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    LRRC37A3 leucine rich repeat containing 37 member A3 [ Homo sapiens (human) ]

    Gene ID: 374819, updated on 27-Nov-2024

    Summary

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    Official Symbol
    LRRC37A3provided by HGNC
    Official Full Name
    leucine rich repeat containing 37 member A3provided by HGNC
    Primary source
    HGNC:HGNC:32427
    See related
    Ensembl:ENSG00000176809 MIM:616557; AllianceGenome:HGNC:32427
    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
    LRRC37; LRRC37A
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 11.0), thyroid (RPKM 2.4) and 22 other tissues See more
    Orthologs
    all
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    Genomic context

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    See LRRC37A3 in Genome Data Viewer
    Location:
    17q24.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (64854130..64919478, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (65723888..65789435, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (62850248..62915596, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene pleckstrin homology and RUN domain containing M1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:62821718-62822218 Neighboring gene RNA, U7 small nuclear 115 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8852 Neighboring gene uncharacterized LOC105371860 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12601 Neighboring gene uncharacterized LOC105376844 Neighboring gene ARF like GTPase 17A pseudogene Neighboring gene RNA, 7SL, cytoplasmic 404, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8853 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:62915421-62915921 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:62915997-62916498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:62916499-62916998 Neighboring gene RDM1 pseudogene 4 Neighboring gene Sharpr-MPRA regulatory region 3243 Neighboring gene uncharacterized LOC107985000 Neighboring gene SLC16A6 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12602 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:62962191-62962354 Neighboring gene Sharpr-MPRA regulatory region 14154 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8856 Neighboring gene AMZ2 pseudogene 1

    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. Primate segmental duplication creates novel promoters for the LRRC37 gene family within the 17q21.31 inversion polymorphism region. Bekpen C, et al. Genome Res, 2012 Jun. PMID 22419166, Free PMC Article
    2. Evolutionary dynamism of the primate LRRC37 gene family. Giannuzzi G, et al. Genome Res, 2013 Jan. PMID 23064749, Free PMC Article
    3. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. Nagase T, et al. DNA Res, 1998 Feb 28. PMID 9628581
    4. TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile. Dendoncker K, et al. Proc Natl Acad Sci U S A, 2019 Jun 25. PMID 31182584, Free PMC Article
    5. Mammalian APE1 controls miRNA processing and its interactome is linked to cancer RNA metabolism. Antoniali G, et al. Nat Commun, 2017 Oct 6. PMID 28986522, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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

    Clone Names

    • FLJ34306, FLJ42521, KIAA0563, MGC41826, MGC57168

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 37A3

    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.

    Genomic

    1. NG_054749.1 RefSeqGene

      Range
      51751..117099
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001303255.3 → NP_001290184.1  leucine-rich repeat-containing protein 37A3 isoform 2

      See identical proteins and their annotated locations for NP_001290184.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks four exons in the 5' region and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC103810, AK294371, AK315945, BI560889
      Consensus CDS
      CCDS77091.1
      UniProtKB/TrEMBL
      B4DG20, J3QTJ5
      Related
      ENSP00000344298.5, ENST00000339474.9
      Conserved Domains (3) summary
      sd00031
      Location:60 → 83
      LRR_1; leucine-rich repeat [structural motif]
      pfam13855
      Location:61 → 113
      LRR_8; Leucine rich repeat
      pfam14914
      Location:586 → 708
      LRRC37AB_C; LRRC37A/B like protein 1 C-terminal domain

    2. NM_199340.5 → NP_955372.2  leucine-rich repeat-containing protein 37A3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_955372.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB011135, AC103810, AK294371, AK315945, BI560889
      Consensus CDS
      CCDS32708.1
      UniProtKB/Swiss-Prot
      O60309, Q49A01, Q49A80, Q8NB33
      UniProtKB/TrEMBL
      A0A0G2JRB3
      Related
      ENSP00000464535.1, ENST00000584306.6
      Conserved Domains (5) summary
      sd00031
      Location:891 → 914
      LRR_1; leucine-rich repeat [structural motif]
      pfam12799
      Location:892 → 929
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:892 → 949
      LRR_8; Leucine rich repeat
      pfam14914
      Location:1468 → 1590
      LRRC37AB_C; LRRC37A/B like protein 1 C-terminal domain
      pfam15779
      Location:561 → 629
      LRRC37; Leucine-rich repeat-containing protein 37 family

    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
      64854130..64919478 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_167251.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1233078..1569269
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187663.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      197796..287327 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      65723888..65789435 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60309.2 GenPept UniProtKB/Swiss-Prot:O60309

    Gene LinkOut

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

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