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HAVCR1 hepatitis A virus cellular receptor 1 [ Homo sapiens (human) ]

Gene ID: 26762, updated on 22-Dec-2014
Official Symbol
HAVCR1provided by HGNC
Official Full Name
hepatitis A virus cellular receptor 1provided by HGNC
Primary source
HGNC:HGNC:17866
See related
Ensembl:ENSG00000113249; HPRD:09404; MIM:606518; Vega:OTTHUMG00000163466
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TIM; KIM1; TIM1; HAVCR; KIM-1; TIM-1; TIMD1; TIMD-1; HAVCR-1
Summary
The protein encoded by this gene is a membrane receptor for both human hepatitis A virus (HHAV) and TIMD4. The encoded protein may be involved in the moderation of asthma and allergic diseases. The reference genome represents an allele that retains a MTTVP amino acid segment that confers protection against atopy in HHAV seropositive individuals. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]
See HAVCR1 in Epigenomics, MapViewer
Location:
5q33.2
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 5 NC_000005.10 (157028978..157058959, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (156455989..156486130, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 Neighboring gene T-cell immunoglobulin and mucin domain containing 4 Neighboring gene apolipoprotein O pseudogene 1 Neighboring gene hepatitis A virus cellular receptor 2 Neighboring gene mediator complex subunit 7

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Ige responsiveness, atopic
MedGen: C1840253 OMIM: 147050 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Common variants at 30 loci contribute to polygenic dyslipidemia.
NHGRI GWA Catalog
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Gene Ontology Provided by GOA

Function Evidence Code Pubs
virus receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
response to virus IEA
Inferred from Electronic Annotation
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
hepatitis A virus cellular receptor 1
Names
hepatitis A virus cellular receptor 1
kidney injury molecule 1
T-cell membrane protein 1
T-cell immunoglobulin mucin receptor 1
T-cell immunoglobulin mucin family member 1
T cell immunoglobin domain and mucin domain protein 1

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_017001.1 

    Range
    5001..34440
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001099414.1NP_001092884.1  hepatitis A virus cellular receptor 1 precursor

    See proteins identical to NP_001092884.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    BC013325, DA378449, DA384612
    Consensus CDS
    CCDS43392.1
    UniProtKB/Swiss-Prot
    Q96D42
    Conserved Domains (2) summary
    smart00410
    Location:21108
    IG_like; Immunoglobulin like
    cl11960
    Location:29124
    Ig; Immunoglobulin domain
  2. NM_001173393.1NP_001166864.1  hepatitis A virus cellular receptor 1 precursor

    See proteins identical to NP_001166864.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All three variants encode the same protein.
    Source sequence(s)
    AF043724, BC013325
    Consensus CDS
    CCDS43392.1
    UniProtKB/Swiss-Prot
    Q96D42
    Related
    ENSP00000427898, OTTHUMP00000224005, ENST00000523175, OTTHUMT00000373592
    Conserved Domains (2) summary
    smart00410
    Location:21108
    IG_like; Immunoglobulin like
    cl11960
    Location:29124
    Ig; Immunoglobulin domain
  3. NM_012206.2NP_036338.2  hepatitis A virus cellular receptor 1 precursor

    See proteins identical to NP_036338.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein.
    Source sequence(s)
    AW604297, BC013325, DA378449
    Consensus CDS
    CCDS43392.1
    UniProtKB/Swiss-Prot
    Q96D42
    Related
    ENSP00000344844, OTTHUMP00000224053, ENST00000339252, OTTHUMT00000373698
    Conserved Domains (2) summary
    smart00410
    Location:21108
    IG_like; Immunoglobulin like
    cl11960
    Location:29124
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

    Range
    157028978..157058959
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714840.1XP_006714903.1  

    UniProtKB/TrEMBL
    E9PFX0
    Conserved Domains (2) summary
    smart00410
    Location:21108
    IG_like; Immunoglobulin like
    cl11960
    Location:29124
    Ig; Immunoglobulin domain

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 

    Range
    155888935..155918725
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000137.1 

    Range
    151544985..151574299
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)