Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84329
Gene name Gene Name - the full gene name approved by the HGNC.
Hydrogen voltage gated channel 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HVCN1
Synonyms (NCBI Gene) Gene synonyms aliases
HV1, VSOP
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.11
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a voltage-gated protein channel protein expressed more highly in certain cells of the immune system. Phagocytic cells produce superoxide anions which require this channel protein, and in B cells this same process facilitates antibody pro
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1057710 hsa-miR-101 CLIP-seq
MIRT1057711 hsa-miR-1183 CLIP-seq
MIRT1057712 hsa-miR-1227 CLIP-seq
MIRT1057713 hsa-miR-144 CLIP-seq
MIRT1057714 hsa-miR-186 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005515 Function Protein binding IPI 32814053
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 20144758, 22020278
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611227 28240 ENSG00000122986
Protein
UniProt ID Q96D96
Protein name Voltage-gated hydrogen channel 1 (Hydrogen voltage-gated channel 1) (HV1) (Voltage sensor domain-only protein)
Protein function Voltage-gated proton-selective channel that conducts outward proton currents in response to intracellular acidification. Lacks a canonical ion-channel pore domain and mediates proton permeability via its voltage sensor domain (PubMed:16554753, P
PDB 3A2A , 5OQK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00520 Ion_trans 98 231 Ion transport protein Family
PF16799 VGPC1_C 226 273 C-terminal membrane-localisation domain of ion-channel, VCN1 Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Enriched in immune tissues, such as lymph nodes, B-lymphocytes, monocytes and spleen (PubMed:16554753). Expressed in spermatozoa (PubMed:37669933). Expressed in respiratory epithelial cells (PubMed:20548053). {ECO:0000269|PubMed:165547
Sequence
MATWDEKAVTRRAKVAPAERMSKFLRHFTVVGDDYHAWNINYKKWENEEEEEEEEQPPPT
PVSGEEGRAAAPDVAPAPGPAPRAPLDFRGMLRKLFSSHRFQVIIICLVVLDALLVLAEL
ILDLKIIQPDKNNYAAMVFHYMSITILVFFMMEIIFKLFVFRLEFFHHKFEILDAVVVVV
SFILDIVLLFQEHQFEALGLLILLRLWRVARIINGIIISVKTRSE
RQLLRLKQMNVQLAA
KIQHLEFSCSEKEQEIERLNKLLRQHGLLGEVN
Sequence length 273
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    ROS and RNS production in phagocytes
Sperm Motility And Taxes
Neutrophil degranulation
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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
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 23940591
alpha 1 Antitrypsin Deficiency Inhibit 34441020
Brain Damage Chronic Associate 32461356
Cerebral Infarction Associate 32461356, 34228044
Colorectal Neoplasms Associate 23940591
Colorectal Neoplasms Stimulate 24621823
Crohn Disease Associate 23437289, 33936061
Inflammatory Bowel Diseases Associate 23437289
Lymphoma Follicular Associate 28064239, 30126979
Neoplasms Associate 23940591, 32461356, 34228044, 40001460