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    HHLA1 HHLA1 neighbor of OC90 [ Homo sapiens (human) ]

    Gene ID: 10086, updated on 5-Mar-2024

    Summary

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    Official Symbol
    HHLA1provided by HGNC
    Official Full Name
    HHLA1 neighbor of OC90provided by HGNC
    Primary source
    HGNC:HGNC:4904
    See related
    Ensembl:ENSG00000132297 MIM:604109; AllianceGenome:HGNC:4904
    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
    PLA2L
    Summary
    Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See HHLA1 in Genome Data Viewer
    Location:
    8q24.22
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (132061480..132111157, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (133184384..133234063, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (133073727..133123404, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27991 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19557 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:132964728-132965406 Neighboring gene EFR3 homolog A Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:133036851-133038050 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:133057119-133057670 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:133066195-133066695 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:133070122-133070699 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:133070700-133071276 Neighboring gene Sharpr-MPRA regulatory region 9765 Neighboring gene otoconin 90 Neighboring gene Sharpr-MPRA regulatory region 9796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:133141080-133141580 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:133141581-133142081 Neighboring gene potassium voltage-gated channel subfamily Q member 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:133358485-133359684 Neighboring gene NANOG hESC enhancer GRCh37_chr8:133405895-133406396 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:133406347-133406528 Neighboring gene VISTA enhancer hs2563 Neighboring gene uncharacterized LOC105375765

    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. Intergenic splicing between a HERV-H endogenous retrovirus and two adjacent human genes. Kowalski PE, et al. Genomics, 1999 May 1. PMID 10329003
    2. Splicing of a human endogenous retrovirus to a novel phospholipase A2 related gene. Feuchter-Murthy AE, et al. Nucleic Acids Res, 1993 Jan 11. PMID 8382789, Free PMC Article
    3. Web-based, participant-driven studies yield novel genetic associations for common traits. Eriksson N, et al. PLoS Genet, 2010 Jun 24. PMID 20585627, Free PMC Article
    4. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Capalbo L, et al. Nat Commun, 2019 Oct 4. PMID 31586073, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    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

    EBI GWAS Catalog

    Description
    Web-based, participant-driven studies yield novel genetic associations for common traits.
    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)

    Genotypes

    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
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    HERV-H LTR-associating protein 1
    Names
    HERV-H LTR-associating 1

    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_001145095.3 → NP_001138567.1  HERV-H LTR-associating protein 1 precursor

      See identical proteins and their annotated locations for NP_001138567.1

      Status: VALIDATED

      Source sequence(s)
      AC100868, AC131042
      UniProtKB/Swiss-Prot
      C9JL84
      UniProtKB/TrEMBL
      A0A5F9ZHM0
      Related
      ENSP00000388322.1, ENST00000414222.2
      Conserved Domains (1) summary
      PHA03247
      Location:218 → 443
      PHA03247; large tegument protein UL36; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      132061480..132111157 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      133184384..133234063 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_005712.1: Suppressed sequence

      Description
      NM_005712.1: This RefSeq was permanently suppressed because it was based on a sequence that is found only in tumorigenic tissues and cells.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    C9JL84.1 GenPept UniProtKB/Swiss-Prot:C9JL84

    Gene LinkOut

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

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