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    LDLRAD4 low density lipoprotein receptor class A domain containing 4 [ Homo sapiens (human) ]

    Gene ID: 753, updated on 10-Dec-2024

    Summary

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    Official Symbol
    LDLRAD4provided by HGNC
    Official Full Name
    low density lipoprotein receptor class A domain containing 4provided by HGNC
    Primary source
    HGNC:HGNC:1224
    See related
    Ensembl:ENSG00000168675 MIM:606571; AllianceGenome:HGNC:1224
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C18orf1
    Summary
    Enables R-SMAD binding activity. Involved in negative regulation of cell migration; negative regulation of epithelial to mesenchymal transition; and negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway. Located in early endosome membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 2.9), prostate (RPKM 1.4) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LDLRAD4 in Genome Data Viewer
    Location:
    18p11.21
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (13217682..13652754)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (13380438..13815606)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (13217681..13652753)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904254 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:13165229-13165802 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:13165803-13166374 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:13180459-13181093 Neighboring gene uncharacterized LOC124904255 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9332 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9333 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13239687-13240321 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:13262681-13263619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13265910-13266472 Neighboring gene Sharpr-MPRA regulatory region 6698 Neighboring gene chromosome 18 putative open reading frame 15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13272589-13273088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13114 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:13280210-13280710 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:13280711-13281211 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:13286315-13286868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13291758-13292268 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:13302309-13302494 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13303607-13304108 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13304109-13304608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13318811-13319312 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:13320779-13321278 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr18:13366195-13366842 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:13375117-13376316 Neighboring gene Sharpr-MPRA regulatory region 1453 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13379815-13380316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13380317-13380816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13381508-13382132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13425961-13426523 Neighboring gene LDLRAD4 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:13447027-13447730 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:13446323-13447026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13454951-13455594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13455595-13456240 Neighboring gene Sharpr-MPRA regulatory region 5399 Neighboring gene uncharacterized LOC124904256 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13474023-13474524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13474525-13475024 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:13493407-13493936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:13493937-13494464 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:13500239-13500896 Neighboring gene microRNA 5190 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13541887-13542410 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13542411-13542932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13548044-13548993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13550257-13550758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13119 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13566667-13567294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13121 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13122 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13125 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13613273-13613792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13613793-13614310 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13126 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13127 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13616337-13616838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13623209-13623708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13626114-13626614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13649057-13649558 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:13649559-13650058 Neighboring gene microRNA 4526 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:13672949-13674148 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:13675367-13676566 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:13688247-13688792 Neighboring gene family with sequence similarity 210 member A Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:13725735-13726660 Neighboring gene RNA, 7SL, cytoplasmic 362, pseudogene Neighboring gene RNA guanine-7 methyltransferase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of low-density lipoprotein receptor class A domain containing 4 (LDLRAD4) as a prognostic indicator in primary gastrointestinal stromal tumors. Xie W, et al. Curr Probl Cancer, 2020 Dec. PMID 32507364
    2. Analysis of a t(18;21)(p11.1;p11.1) translocation in a family with schizophrenia. Meerabux JM, et al. J Hum Genet, 2009 Jul. PMID 19461657
    3. C18orf1 located on chromosome 18p11.2 may confer susceptibility to schizophrenia. Kikuchi M, et al. J Med Dent Sci, 2003 Sep. PMID 15074360
    4. An integrated physical map of 18p11.2: a susceptibility region for bipolar disorder. Esterling LE, et al. Mol Psychiatry, 1997 Oct-Nov. PMID 9399696
    5. Multiple transcriptional variants and RNA editing in C18orf1, a novel gene with LDLRA and transmembrane domains on 18p11.2. Yoshikawa T, et al. Genomics, 1998 Jan 15. PMID 9479497

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification of low-density lipoprotein receptor class A domain containing 4 (LDLRAD4) as a prognostic indicator in primary gastrointestinal stromal tumors.
      Title: Identification of low-density lipoprotein receptor class A domain containing 4 (LDLRAD4) as a prognostic indicator in primary gastrointestinal stromal tumors.
    2. Depletion of LDLRAD4 in HepG2 liver cancer cells inhibited tumorigenesis in nude mice. These results reveal an oncogenic role of LDLRAD4 in tumorigenesis through its association with Nedd4.
      Title: Low density lipoprotein receptor class A domain containing 4 (LDLRAD4) promotes tumorigenesis of hepatic cancer cells.
    3. Data suggest that C18ORF1 acts as a gatekeeper that abrogates excessive TGF-beta signaling.
      Title: C18 ORF1, a novel negative regulator of transforming growth factor-β signaling.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.
    6. Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association study of blood pressure and hypertension.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of survival in patients with pancreatic adenocarcinoma.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables R-SMAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables R-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of epithelial to mesenchymal transition IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in early endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in early endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    low-density lipoprotein receptor class A domain-containing protein 4
    Names
    clone 22

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001003674.3 → NP_001003674.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform gamma 1

      See identical proteins and their annotated locations for NP_001003674.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon, differs in its 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant a1. The encoded isoform (gamma 1) is shorter and has a distinct N-terminus, compared to isoform alpha 1.
      Source sequence(s)
      AF009426, AI668861, AI878844, AK055028, AP001010, DA321390, DA391326, DA412541, HY309264
      Consensus CDS
      CCDS32795.1
      UniProtKB/TrEMBL
      A8K6A9
      Related
      ENSP00000466178.1, ENST00000587757.5

    2. NM_001003675.3 → NP_001003675.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform gamma 2

      See identical proteins and their annotated locations for NP_001003675.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' terminal exon, differs in its 5' UTR, lacks a portion of the 5' coding region, initiates translation at an alternate start codon, and lacks an alternate in-frame exon in the central coding region, compared to variant a1. The encoded isoform (gamma 2) is shorter and has a distinct N-terminus, compared to isoform alpha 1.
      Source sequence(s)
      AF009424, AI878844, AP001010, BC047093, BC066971, BM991627, BX114947, DA126127, DA246476, DA276009, HY115972
      Consensus CDS
      CCDS42415.1
      UniProtKB/TrEMBL
      A0A7I2V2E6
      Related
      ENSP00000474783.1, ENST00000586765.1

    3. NM_001276249.1 → NP_001263178.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform delta 1

      See identical proteins and their annotated locations for NP_001263178.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate 5' terminal exon, differs in its 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant a1. The encoded isoform (delta 1) is shorter at the N-terminus, compared to isoform alpha 1.
      Source sequence(s)
      AF009426, AI878844, AK291574, AP001010, BC030199, BC066971, BM715555, BM805426, DA418068, DC327672, DC328561
      Consensus CDS
      CCDS62392.1
      UniProtKB/TrEMBL
      A8K6A9
      Related
      ENSP00000466772.1, ENST00000585931.5

    4. NM_001276251.2 → NP_001263180.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform epsilon 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) contains an alternate 5' terminal exon, differs in its 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant a1. The encoded isoform (epsilon 1) is shorter and has a distinct N-terminus, compared to isoform alpha 1.
      Source sequence(s)
      AF009424, AI878844, AP001010, BC029958, BC066971, HY309264, N63974
      UniProtKB/TrEMBL
      A8K6A9

    5. NM_001378098.1 → NP_001365027.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform alpha 1

      Status: VALIDATED

      Source sequence(s)
      AP001010, AP002439, AP002505
      Consensus CDS
      CCDS32793.1
      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3
      Conserved Domains (1) summary
      cd00112
      Location:16 → 47
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    6. NM_001378099.1 → NP_001365028.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform alpha 1

      Status: VALIDATED

      Source sequence(s)
      AP001010, AP002439, AP002505
      Consensus CDS
      CCDS32793.1
      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3
      Related
      ENSP00000503185.1, ENST00000679091.1
      Conserved Domains (1) summary
      cd00112
      Location:16 → 47
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    7. NM_001378100.1 → NP_001365029.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform alpha 1

      Status: VALIDATED

      Source sequence(s)
      AP001010, AP002439, AP002505
      Consensus CDS
      CCDS32793.1
      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3
      Related
      ENSP00000352420.5, ENST00000359446.11
      Conserved Domains (1) summary
      cd00112
      Location:16 → 47
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    8. NM_001378101.1 → NP_001365030.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform alpha 2

      Status: VALIDATED

      Source sequence(s)
      AP001010, AP002439, AP002505
      Consensus CDS
      CCDS32794.1
      Conserved Domains (1) summary
      cd00112
      Location:16 → 47
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    9. NM_001394662.1 → NP_001381591.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform alpha 1

      Status: VALIDATED

      Source sequence(s)
      AP001010, AP002439, AP002505
      Consensus CDS
      CCDS32793.1
      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3
      Conserved Domains (1) summary
      cd00112
      Location:16 → 47
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    10. NM_001394663.1 → NP_001381592.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform alpha 1

      Status: VALIDATED

      Source sequence(s)
      AP001010, AP002439, AP002505
      Consensus CDS
      CCDS32793.1
      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3
      Conserved Domains (1) summary
      cd00112
      Location:16 → 47
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    11. NM_001394664.1 → NP_001381593.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform alpha 2

      Status: VALIDATED

      Source sequence(s)
      AP001010, AP002439, AP002505
      Consensus CDS
      CCDS32794.1
      Conserved Domains (1) summary
      cd00112
      Location:16 → 47
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    12. NM_001394665.1 → NP_001381594.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform alpha 2

      Status: VALIDATED

      Source sequence(s)
      AP001010, AP002439, AP002505
      Consensus CDS
      CCDS32794.1
      Conserved Domains (1) summary
      cd00112
      Location:16 → 47
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    13. NM_001394666.1 → NP_001381595.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform 15

      Status: VALIDATED

      Source sequence(s)
      AP001010, AP002439, AP002505
      Consensus CDS
      CCDS92439.1
      UniProtKB/TrEMBL
      A0A7I2V575, A8K6A9
      Related
      ENSP00000504217.1, ENST00000679177.1

    14. NM_001394667.1 → NP_001381596.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform 15

      Status: VALIDATED

      Source sequence(s)
      AP001010, AP002439, AP002505
      Consensus CDS
      CCDS92439.1
      UniProtKB/TrEMBL
      A0A7I2V575, A8K6A9
      Related
      ENSP00000504651.1, ENST00000679167.1

    15. NM_181481.5 → NP_852146.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform alpha 1

      See identical proteins and their annotated locations for NP_852146.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (alpha 1).
      Source sequence(s)
      AP001010, AP002439, AP002505
      Consensus CDS
      CCDS32793.1
      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3
      Conserved Domains (1) summary
      cd00112
      Location:16 → 47
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    16. NM_181482.5 → NP_852147.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform alpha 2

      See identical proteins and their annotated locations for NP_852147.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in its 5' UTR and lacks an alternate in-frame exon in the central coding region, compared to variant a1, resulting in an isoform (alpha 2) that is shorter than isoform alpha 1.
      Source sequence(s)
      AF009424, AI878844, AP001010, BC030199, BM715555, DB107684, DB272592
      Consensus CDS
      CCDS32794.1
      UniProtKB/Swiss-Prot
      O15165
      Related
      ENSP00000382741.2, ENST00000399848.7
      Conserved Domains (1) summary
      cd00112
      Location:16 → 47
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    RNA

    1. NR_172142.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP001010, AP002439, AP002505, AP005131

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      13217682..13652754
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437773.1 → XP_047293729.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3

    2. XM_047437776.1 → XP_047293732.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X2

    3. XM_024451260.2 → XP_024307028.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X5

      UniProtKB/TrEMBL
      A0A7I2V2E6

    4. XM_047437785.1 → XP_047293741.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X5

      UniProtKB/TrEMBL
      A0A7I2V2E6

    5. XM_047437774.1 → XP_047293730.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X2

    6. XM_047437779.1 → XP_047293735.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X4

      UniProtKB/TrEMBL
      A0A7I2V575, A8K6A9

    7. XM_047437783.1 → XP_047293739.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X5

      UniProtKB/TrEMBL
      A0A7I2V2E6

    8. XM_047437772.1 → XP_047293728.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3

    9. XM_047437778.1 → XP_047293734.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X3

    10. XM_024451250.2 → XP_024307018.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3
      Conserved Domains (1) summary
      cd00112
      Location:16 → 47
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    11. XM_047437775.1 → XP_047293731.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X2

    12. XM_047437784.1 → XP_047293740.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X5

      UniProtKB/TrEMBL
      A0A7I2V2E6

    13. XM_047437786.1 → XP_047293742.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X6

      UniProtKB/TrEMBL
      A8K6A9

    14. XM_047437787.1 → XP_047293743.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X6

      UniProtKB/TrEMBL
      A8K6A9

    15. XM_047437788.1 → XP_047293744.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X6

      UniProtKB/TrEMBL
      A8K6A9

    16. XM_006722353.2 → XP_006722416.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

      See identical proteins and their annotated locations for XP_006722416.1

      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3
      Conserved Domains (1) summary
      cd00112
      Location:16 → 47
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    17. XM_047437777.1 → XP_047293733.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X3

    18. XM_047437791.1 → XP_047293747.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X6

      UniProtKB/TrEMBL
      A8K6A9

    19. XM_047437780.1 → XP_047293736.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X4

      UniProtKB/TrEMBL
      A0A7I2V575, A8K6A9

    20. XM_017025961.2 → XP_016881450.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X2

    21. XM_011525737.2 → XP_011524039.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X4

      UniProtKB/TrEMBL
      A0A7I2V575, A8K6A9
      Related
      ENSP00000504396.1, ENST00000677055.1

    22. XM_047437782.1 → XP_047293738.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X5

      UniProtKB/TrEMBL
      A0A7I2V2E6

    23. XM_024451254.2 → XP_024307022.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3
      Conserved Domains (1) summary
      cd00112
      Location:16 → 47
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    24. XM_024451256.2 → XP_024307024.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3
      Conserved Domains (1) summary
      cd00112
      Location:16 → 47
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    25. XM_024451252.2 → XP_024307020.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3
      Conserved Domains (1) summary
      cd00112
      Location:16 → 47
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    26. XM_024451251.2 → XP_024307019.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3
      Conserved Domains (1) summary
      cd00112
      Location:16 → 47
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    27. XM_024451255.2 → XP_024307023.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3
      Conserved Domains (1) summary
      cd00112
      Location:16 → 47
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    28. XM_047437781.1 → XP_047293737.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X4

      UniProtKB/TrEMBL
      A0A7I2V575, A8K6A9

    29. XM_024451258.2 → XP_024307026.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3
      Conserved Domains (1) summary
      cd00112
      Location:16 → 47
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    30. XM_006722354.2 → XP_006722417.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

      See identical proteins and their annotated locations for XP_006722417.1

      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3
      Conserved Domains (1) summary
      cd00112
      Location:16 → 47
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    31. XM_047437790.1 → XP_047293746.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X6

      UniProtKB/TrEMBL
      A8K6A9

    32. XM_017025970.2 → XP_016881459.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X6

      UniProtKB/TrEMBL
      A8K6A9
      Conserved Domains (1) summary
      cl21455
      Location:97 → 155
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    33. XM_047437792.1 → XP_047293748.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X6

      UniProtKB/TrEMBL
      A8K6A9

    34. XM_047437789.1 → XP_047293745.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X6

      UniProtKB/TrEMBL
      A8K6A9

    35. XM_017025969.2 → XP_016881458.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X6

      UniProtKB/TrEMBL
      A8K6A9
      Related
      ENSP00000504022.1, ENST00000677744.1
      Conserved Domains (1) summary
      cl21455
      Location:97 → 155
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      13380438..13815606
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319055.1 → XP_054175030.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3

    2. XM_054319065.1 → XP_054175040.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X2

    3. XM_054319076.1 → XP_054175051.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X5

      UniProtKB/TrEMBL
      A0A7I2V2E6

    4. XM_054319075.1 → XP_054175050.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X5

      UniProtKB/TrEMBL
      A0A7I2V2E6

    5. XM_054319069.1 → XP_054175044.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X4

      UniProtKB/TrEMBL
      A0A7I2V575, A8K6A9

    6. XM_054319073.1 → XP_054175048.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X5

      UniProtKB/TrEMBL
      A0A7I2V2E6

    7. XM_054319054.1 → XP_054175029.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3

    8. XM_054319067.1 → XP_054175042.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X3

    9. XM_054319052.1 → XP_054175027.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3

    10. XM_054319064.1 → XP_054175039.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X2

    11. XM_054319074.1 → XP_054175049.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X5

      UniProtKB/TrEMBL
      A0A7I2V2E6

    12. XM_054319058.1 → XP_054175033.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3

    13. XM_054319077.1 → XP_054175052.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X6

      UniProtKB/TrEMBL
      A8K6A9

    14. XM_054319078.1 → XP_054175053.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X6

      UniProtKB/TrEMBL
      A8K6A9

    15. XM_054319079.1 → XP_054175054.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X6

      UniProtKB/TrEMBL
      A8K6A9

    16. XM_054319057.1 → XP_054175032.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3

    17. XM_054319066.1 → XP_054175041.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X3

    18. XM_054319084.1 → XP_054175059.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X6

      UniProtKB/TrEMBL
      A8K6A9

    19. XM_054319070.1 → XP_054175045.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X4

      UniProtKB/TrEMBL
      A0A7I2V575, A8K6A9

    20. XM_054319068.1 → XP_054175043.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X4

      UniProtKB/TrEMBL
      A0A7I2V575, A8K6A9

    21. XM_054319072.1 → XP_054175047.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X5

      UniProtKB/TrEMBL
      A0A7I2V2E6

    22. XM_054319061.1 → XP_054175036.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3

    23. XM_054319053.1 → XP_054175028.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3

    24. XM_054319059.1 → XP_054175034.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3

    25. XM_054319060.1 → XP_054175035.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3

    26. XM_054319071.1 → XP_054175046.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X4

      UniProtKB/TrEMBL
      A0A7I2V575, A8K6A9

    27. XM_054319062.1 → XP_054175037.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3

    28. XM_054319056.1 → XP_054175031.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      B3KNT9, E9PAY9, K7EN38, O15165, O15166, O15167, O15168, Q5U646, Q6NXP3

    29. XM_054319082.1 → XP_054175057.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X6

      UniProtKB/TrEMBL
      A8K6A9

    30. XM_054319083.1 → XP_054175058.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X6

      UniProtKB/TrEMBL
      A8K6A9

    31. XM_054319086.1 → XP_054175061.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X6

      UniProtKB/TrEMBL
      A8K6A9

    32. XM_054319085.1 → XP_054175060.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X6

      UniProtKB/TrEMBL
      A8K6A9

    33. XM_054319081.1 → XP_054175056.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X6

      UniProtKB/TrEMBL
      A8K6A9

    34. XM_054319080.1 → XP_054175055.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X6

      UniProtKB/TrEMBL
      A8K6A9

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_004338.3: Suppressed sequence

      Description
      NM_004338.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    2. NM_181483.3: Suppressed sequence

      Description
      NM_181483.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15165.1 GenPept UniProtKB/Swiss-Prot:O15165

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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