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

Gene ID: 10086, updated on 28-Oct-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, Oct 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (132061480..132111157, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (133184384..133234063, complement)
RS_2024_09 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 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_2024_08

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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