Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26762
Gene name Gene Name - the full gene name approved by the HGNC.
Hepatitis A virus cellular receptor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HAVCR1
Synonyms (NCBI Gene) Gene synonyms aliases
CD365, HAVCR, HAVCR-1, KIM-1, KIM1, TIM, TIM-1, TIM1, TIMD-1, TIMD1
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q33.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 MTTV
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018340 hsa-miR-335-5p Microarray 18185580
MIRT019312 hsa-miR-148b-3p Microarray 17612493
MIRT683557 hsa-miR-490-3p HITS-CLIP 23313552
MIRT683556 hsa-miR-7851-3p HITS-CLIP 23313552
MIRT683555 hsa-miR-3192-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001618 Function Virus receptor activity IBA
GO:0001618 Function Virus receptor activity IDA 21536871
GO:0001618 Function Virus receptor activity IEA
GO:0001786 Function Phosphatidylserine binding IBA
GO:0005515 Function Protein binding IPI 32995803, 33493263
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606518 17866 ENSG00000113249
Protein
UniProt ID Q96D42
Protein name Hepatitis A virus cellular receptor 1 (HAVcr-1) (Kidney injury molecule 1) (KIM-1) (T-cell immunoglobulin and mucin domain-containing protein 1) (TIMD-1) (T-cell immunoglobulin mucin receptor 1) (TIM) (TIM-1) (T-cell membrane protein 1) (CD antigen CD365)
Protein function Phosphatidylserine receptor that plays an important functional role in regulatory B-cells homeostasis including generation, expansion and suppressor functions (By similarity). As P-selectin/SELPLG ligand, plays a specialized role in activated bu
PDB 5DZO , 5F70
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 20 124 Immunoglobulin V-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest levels in kidney and testis. Expressed by activated CD4+ T-cells during the development of helper T-cells responses. {ECO:0000269|PubMed:9658108}.
Sequence
MHPQVVILSLILHLADSVAGSVKVGGEAGPSVTLPCHYSGAVTSMCWNRGSCSLFTCQNG
IVWTNGTHVTYRKDTRYKLLGDLSRRDVSLTIENTAVSDSGVYCCRVEHRGWFNDMKITV
SLEI
VPPKVTTTPIVTTVPTVTTVRTSTTVPTTTTVPMTTVPTTTVPTTMSIPTTTTVLT
TMTVSTTTSVPTTTSIPTTTSVPVTTTVSTFVPPMPLPRQNHEPVATSPSSPQPAETHPT
TLQGAIRREPTSSPLYSYTTDGNDTVTESSDGLWNNNQTQLFLEHSLLTANTTKGIYAGV
CISVLVLLALLGVIIAKKYFFKKEVQQLSVSFSSLQIKALQNAVEKEVQAEDNIYIENSL
YATD
Sequence length 364
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Virion - Flavivirus and Alphavirus
Efferocytosis
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dementia Dementia N/A N/A GWAS
Hyperlipidemia Hyperlipidemia, Familial combined hyperlipidemia defined by Brunzell criteria N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 20671224, 20827258, 24180435, 27122240, 28640195, 29693725, 30909833, 35334494, 36385130
Acute Kidney Injury Stimulate 22418979, 23317940, 34112226
Adenocarcinoma Associate 20019169, 25860248, 25921719, 28819999, 30110569, 31063013
Adenocarcinoma of Lung Associate 34323652
Adenoma Associate 23988168, 26317775
Albuminuria Associate 35577796
Aphasia Broca Associate 36818472
Asthma Associate 19476019, 21339644
Atrophy Associate 25884518
Autoimmune Diseases Associate 22190394