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    LRRC75A leucine rich repeat containing 75A [ Homo sapiens (human) ]

    Gene ID: 388341, updated on 27-Dec-2024

    Summary

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    Official Symbol
    LRRC75Aprovided by HGNC
    Official Full Name
    leucine rich repeat containing 75Aprovided by HGNC
    Primary source
    HGNC:HGNC:32403
    See related
    Ensembl:ENSG00000181350 AllianceGenome:HGNC:32403
    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
    FAM211A; C17orf76
    Summary
    Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be part of Cul2-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in urinary bladder (RPKM 22.4), thyroid (RPKM 17.1) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRC75A in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (16441577..16492193, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (16343882..16394482, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (16344891..16395507, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16342605-16343506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16347109-16348008 Neighboring gene small nucleolar RNA, C/D box 49A Neighboring gene small nucleolar RNA host gene 29 Neighboring gene small nucleolar RNA, C/D box 65 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16351973-16352474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16352475-16352974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16359695-16360196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:16360197-16360696 Neighboring gene Sharpr-MPRA regulatory regions 7543 and 3494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16369025-16369816 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16379787-16380698 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16380699-16381609 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16386369-16387185 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16387442-16388368 Neighboring gene uncharacterized LOC124903936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16389294-16390219 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:16390220-16391144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8225 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8227 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:16400945-16401445 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:16419598-16420797 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11767 Neighboring gene uncharacterized LOC124903940 Neighboring gene uncharacterized LOC124903941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11768 Neighboring gene uncharacterized LOC105371554

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Single-Cell RNA-Seq Reveals LRRC75A-Expressing Cell Population Involved in VEGF Secretion of Multipotent Mesenchymal Stromal/Stem Cells Under Ischemia. Miura T, et al. Stem Cells Transl Med, 2023 Jun 15. PMID 37263619, Free PMC Article
    2. Identification and analysis of intermediate size noncoding RNAs in the human fetal brain. Yan D, et al. PLoS One, 2011. PMID 21789175, Free PMC Article
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Single-Cell RNA-Seq Reveals LRRC75A-Expressing Cell Population Involved in VEGF Secretion of Multipotent Mesenchymal Stromal/Stem Cells Under Ischemia.
      Title: Single-Cell RNA-Seq Reveals LRRC75A-Expressing Cell Population Involved in VEGF Secretion of Multipotent Mesenchymal Stromal/Stem Cells Under Ischemia.
    2. 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.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ35696

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ubiquitin-like ligase-substrate adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of Cul2-RING ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 75A
    Names
    family with sequence similarity 211, member A
    leucine-rich repeat-containing protein C17orf76
    leucine-rich repeat-containing protein FAM211A

    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_001113567.3 → NP_001107039.1  leucine-rich repeat-containing protein 75A isoform 1

      See identical proteins and their annotated locations for NP_001107039.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC093484, AC127540, AI298465, BC144381, DB460063
      Consensus CDS
      CCDS45620.1
      UniProtKB/Swiss-Prot
      Q8NAA5
      UniProtKB/TrEMBL
      B7ZMA3
      Related
      ENSP00000419502.1, ENST00000470794.2
      Conserved Domains (2) summary
      cd00116
      Location:169 → 265
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00031
      Location:193 → 216
      LRR_1; leucine-rich repeat [structural motif]

    2. NM_207387.4 → NP_997270.2  leucine-rich repeat-containing protein 75A isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 3' coding region which results in a frameshift and premature stop codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC093484, AC127540, AI298465, AK093015, DB460063
      Consensus CDS
      CCDS11178.2
      UniProtKB/Swiss-Prot
      Q8NAA5
      Related
      ENSP00000386504.3, ENST00000409083.7

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      16441577..16492193 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024620.2 → XP_016880109.1  leucine-rich repeat-containing protein 75A isoform X2

      UniProtKB/TrEMBL
      B7ZMA3

    2. XM_047435961.1 → XP_047291917.1  leucine-rich repeat-containing protein 75A isoform X3

      UniProtKB/TrEMBL
      B7ZMA3

    3. XM_017024619.2 → XP_016880108.1  leucine-rich repeat-containing protein 75A isoform X1

    4. XM_047435962.1 → XP_047291918.1  leucine-rich repeat-containing protein 75A isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      16343882..16394482 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316035.1 → XP_054172010.1  leucine-rich repeat-containing protein 75A isoform X5

    2. XM_054316033.1 → XP_054172008.1  leucine-rich repeat-containing protein 75A isoform X2

      UniProtKB/TrEMBL
      B7ZMA3

    3. XM_054316034.1 → XP_054172009.1  leucine-rich repeat-containing protein 75A isoform X3

      UniProtKB/TrEMBL
      B7ZMA3

    4. XM_054316032.1 → XP_054172007.1  leucine-rich repeat-containing protein 75A isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NAA5.2 GenPept UniProtKB/Swiss-Prot:Q8NAA5

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