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    LRRIQ4 leucine rich repeats and IQ motif containing 4 [ Homo sapiens (human) ]

    Gene ID: 344657, updated on 27-Nov-2024

    Summary

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    Official Symbol
    LRRIQ4provided by HGNC
    Official Full Name
    leucine rich repeats and IQ motif containing 4provided by HGNC
    Primary source
    HGNC:HGNC:34298
    See related
    Ensembl:ENSG00000188306 AllianceGenome:HGNC:34298
    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
    LRRC64
    Summary
    Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 1.1), colon (RPKM 0.3) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See LRRIQ4 in Genome Data Viewer
    Location:
    3q26.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (169812870..169837773)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (172597096..172621997)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (169530658..169555561)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:169490847-169491350 Neighboring gene tRNA-Val (anticodon AAC) 1-1 Neighboring gene myoneurin Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 3:169512145 Neighboring gene leucine rich repeat containing 34 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 3:169524016 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 3:169526272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20787 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20788 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:169564950-169565107 Neighboring gene leucine rich repeat containing 31 Neighboring gene keratin 18 pseudogene 43

    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. Leucine-rich repeat glycoproteins of the extracellular matrix. Hocking AM, et al. Matrix Biol, 1998 Apr. PMID 9628249
    2. Sequence motifs for calmodulin recognition. Rhoads AR, et al. FASEB J, 1997 Apr. PMID 9141499
    3. Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways. Wang T, et al. Neurobiol Aging, 2015 Jan. PMID 25192599
    4. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013
    5. The leucine-rich repeat as a protein recognition motif. Kobe B, et al. Curr Opin Struct Biol, 2001 Dec. PMID 11751054

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    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

    Component Evidence Code Pubs
    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 and IQ domain-containing protein 4
    Names
    leucine rich repeat containing 64

    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_001080460.3 → NP_001073929.1  leucine-rich repeat and IQ domain-containing protein 4

      See identical proteins and their annotated locations for NP_001073929.1

      Status: VALIDATED

      Source sequence(s)
      AC078795
      Consensus CDS
      CCDS46951.1
      UniProtKB/Swiss-Prot
      A6NIV6
      UniProtKB/TrEMBL
      A0A8I5KNZ9
      Related
      ENSP00000342188.6, ENST00000340806.7
      Conserved Domains (3) summary
      cd00116
      Location:117 → 360
      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 ...
      sd00033
      Location:120 → 143
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:234 → 315
      LRR_8; Leucine rich repeat

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      169812870..169837773
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512749.2 → XP_011511051.1  leucine-rich repeat and IQ domain-containing protein 4 isoform X2

      Conserved Domains (3) summary
      cd00116
      Location:117 → 394
      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 ...
      sd00033
      Location:190 → 212
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:234 → 315
      LRR_8; Leucine rich repeat

    2. XM_011512748.2 → XP_011511050.1  leucine-rich repeat and IQ domain-containing protein 4 isoform X1

      See identical proteins and their annotated locations for XP_011511050.1

      UniProtKB/Swiss-Prot
      A6NIV6
      UniProtKB/TrEMBL
      A0A8I5KNZ9
      Conserved Domains (3) summary
      cd00116
      Location:117 → 360
      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 ...
      sd00033
      Location:120 → 143
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:234 → 315
      LRR_8; Leucine rich repeat

    3. XM_006713613.5 → XP_006713676.1  leucine-rich repeat and IQ domain-containing protein 4 isoform X1

      See identical proteins and their annotated locations for XP_006713676.1

      UniProtKB/Swiss-Prot
      A6NIV6
      UniProtKB/TrEMBL
      A0A8I5KNZ9
      Related
      ENSP00000508855.1, ENST00000691416.1
      Conserved Domains (3) summary
      cd00116
      Location:117 → 360
      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 ...
      sd00033
      Location:120 → 143
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:234 → 315
      LRR_8; Leucine rich repeat

    RNA

    1. XR_924128.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      172597096..172621997
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346426.1 → XP_054202401.1  leucine-rich repeat and IQ domain-containing protein 4 isoform X2

    2. XM_054346424.1 → XP_054202399.1  leucine-rich repeat and IQ domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      A6NIV6

    3. XM_054346425.1 → XP_054202400.1  leucine-rich repeat and IQ domain-containing protein 4 isoform X1

      UniProtKB/Swiss-Prot
      A6NIV6

    RNA

    1. XR_008486711.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NIV6.2 GenPept UniProtKB/Swiss-Prot:A6NIV6

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