Gene Gene information from NCBI Gene database.
Entrez ID 26762
Gene name Hepatitis A virus cellular receptor 1
Gene symbol HAVCR1
Synonyms (NCBI Gene)
CD365HAVCRHAVCR-1KIM-1KIM1TIMTIM-1TIM1TIMD-1TIMD1
Chromosome 5
Chromosome location 5q33.3
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 MTTV
miRNA miRNA information provided by mirtarbase database.
323
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606518 17866 ENSG00000113249
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
21
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DERMATITIS, ATOPIC Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 30477800
★☆☆☆☆
Found in Text Mining only
Acute Kidney Insufficiency Acute Kidney Insufficiency CTD_human_DG 20118187, 21259293, 21835770, 22005293, 23052191, 23845967, 24189134, 24361871, 24958931, 28885000
★☆☆☆☆
Found in Text Mining only
Acute Kidney Tubular Necrosis Renal tubular necrosis BEFREE 31623859
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 20232767, 23406933, 23800473
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 31641850
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 29936416
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 16481347
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 11725301, 12618867, 14630400, 14637143, 15153541, 15683615, 15867855, 16938542, 17117951, 17277130, 17570927, 18727494, 19476019, 19494522, 20415862
View all (9 more)
★☆☆☆☆
Found in Text Mining only
Asthma Asthma LHGDN 17570927
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 19476019, 21339644 Associate
★☆☆☆☆
Found in Text Mining only