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Aliases for HVCN1 Gene

Aliases for HVCN1 Gene

  • Hydrogen Voltage Gated Channel 1 2 3 5
  • Voltage Sensor Domain-Only Protein 2 3 4
  • Hydrogen Voltage-Gated Channel 1 2 3 4
  • VSOP 3 4
  • HV1 3 4

External Ids for HVCN1 Gene

Previous GeneCards Identifiers for HVCN1 Gene

  • GC12M109570
  • GC12M111086
  • GC12M108104

Summaries for HVCN1 Gene

Entrez Gene Summary for HVCN1 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 production. This same channel protein, however, can also regulate functions in other cells including spermatozoa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

GeneCards Summary for HVCN1 Gene

HVCN1 (Hydrogen Voltage Gated Channel 1) is a Protein Coding gene. Among its related pathways are Reproduction. GO annotations related to this gene include ion channel activity and voltage-gated proton channel activity. An important paralog of this gene is TMEM266.

UniProtKB/Swiss-Prot for HVCN1 Gene

  • Mediates the voltage-dependent proton permeability of excitable membranes. Forms a proton-selective channel through which protons may pass in accordance with their electrochemical gradient. Proton efflux, accompanied by membrane depolarization, facilitates acute production of reactive oxygen species in phagocytosis.

Gene Wiki entry for HVCN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HVCN1 Gene

Genomics for HVCN1 Gene

Regulatory Elements for HVCN1 Gene

Enhancers for HVCN1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HVCN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HVCN1 Gene

Chromosome:
12
Start:
110,627,841 bp from pter
End:
110,704,950 bp from pter
Size:
77,110 bases
Orientation:
Minus strand

Genomic View for HVCN1 Gene

Genes around HVCN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HVCN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HVCN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HVCN1 Gene

Proteins for HVCN1 Gene

  • Protein details for HVCN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96D96-HVCN1_HUMAN
    Recommended name:
    Voltage-gated hydrogen channel 1
    Protein Accession:
    Q96D96
    Secondary Accessions:
    • A8MQ37
    • B4DEB3
    • F8WCH5
    • Q6UW11
    • Q96IS5

    Protein attributes for HVCN1 Gene

    Size:
    273 amino acids
    Molecular mass:
    31683 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAQ89413.1; Type=Frameshift; Positions=164, 175; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HVCN1 Gene

    Alternative splice isoforms for HVCN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HVCN1 Gene

Proteomics data for HVCN1 Gene at MOPED

Post-translational modifications for HVCN1 Gene

Antibody Products

No data available for DME Specific Peptides for HVCN1 Gene

Domains & Families for HVCN1 Gene

Gene Families for HVCN1 Gene

Protein Domains for HVCN1 Gene

Suggested Antigen Peptide Sequences for HVCN1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96D96

UniProtKB/Swiss-Prot:

HVCN1_HUMAN :
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Unlike other voltage-gated ion channels it lacks the pore domain.
  • Belongs to the hydrogen channel family.
Domain:
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Unlike other voltage-gated ion channels it lacks the pore domain.
  • The C-terminal coiled coil region mediates homodimerization and cooperative channel gating. It is essential for normal subcellular localization.
Family:
  • Belongs to the hydrogen channel family.
genes like me logo Genes that share domains with HVCN1: view

Function for HVCN1 Gene

Molecular function for HVCN1 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
The dimers display cooperative channel gating (By similarity). The channel activity is inhibited by zinc ions.
UniProtKB/Swiss-Prot Function:
Mediates the voltage-dependent proton permeability of excitable membranes. Forms a proton-selective channel through which protons may pass in accordance with their electrochemical gradient. Proton efflux, accompanied by membrane depolarization, facilitates acute production of reactive oxygen species in phagocytosis.

Phenotypes for HVCN1 Gene

genes like me logo Genes that share phenotypes with HVCN1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for HVCN1

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HVCN1 Gene

Localization for HVCN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HVCN1 Gene

Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Note=Detected mainly at intracellular membranes upon overexpression in HeLa cells (PuMed:20147290), but not in other cell types.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HVCN1 Gene COMPARTMENTS Subcellular localization image for HVCN1 gene
Compartment Confidence
plasma membrane 5
mitochondrion 2
peroxisome 2
cytosol 1
extracellular 1
golgi apparatus 1
nucleus 1

Gene Ontology (GO) - Cellular Components for HVCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with HVCN1: view

Pathways & Interactions for HVCN1 Gene

SuperPathways for HVCN1 Gene

Superpath Contained pathways
1 Reproduction
genes like me logo Genes that share pathways with HVCN1: view

Pathways by source for HVCN1 Gene

3 Reactome pathways for HVCN1 Gene

Interacting Proteins for HVCN1 Gene

Gene Ontology (GO) - Biological Process for HVCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007338 single fertilization TAS --
GO:0009268 response to pH ISS 16556803
GO:0015992 proton transport ISS 16556803
GO:0034220 ion transmembrane transport IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with HVCN1: view

No data available for SIGNOR curated interactions for HVCN1 Gene

Drugs & Compounds for HVCN1 Gene

(2) Drugs for HVCN1 Gene - From: DGIdb and IUPHAR

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cd<sup>2+</sup> Pharma Channel blocker 0
Zn<sup>2+</sup> Pharma Positive, Allosteric regulator 0

(1) Additional Compounds for HVCN1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
hydrogen
  • Dihydrogen
  • Hydrogen gas
1333-74-0
genes like me logo Genes that share compounds with HVCN1: view

Transcripts for HVCN1 Gene

Unigene Clusters for HVCN1 Gene

Hydrogen voltage-gated channel 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HVCN1 Gene

No ASD Table

Relevant External Links for HVCN1 Gene

GeneLoc Exon Structure for
HVCN1
ECgene alternative splicing isoforms for
HVCN1

Expression for HVCN1 Gene

mRNA expression in normal human tissues for HVCN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HVCN1 Gene

This gene is overexpressed in Whole Blood (x5.1).

Protein differential expression in normal tissues from HIPED for HVCN1 Gene

This gene is overexpressed in Nasal epithelium (39.3) and Blymphocyte (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HVCN1 Gene



SOURCE GeneReport for Unigene cluster for HVCN1 Gene Hs.334637

mRNA Expression by UniProt/SwissProt for HVCN1 Gene

Q96D96-HVCN1_HUMAN
Tissue specificity: Enriched in immune tissues, such as lymph nodes, B-lymphocytes, monocytes and spleen.
genes like me logo Genes that share expression patterns with HVCN1: view

Protein tissue co-expression partners for HVCN1 Gene

Primer Products

In Situ Assay Products

Orthologs for HVCN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HVCN1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HVCN1 35
  • 86.35 (n)
  • 86.35 (a)
HVCN1 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HVCN1 35
  • 85.45 (n)
  • 85.45 (a)
HVCN1 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hvcn1 35
  • 79.93 (n)
  • 78.81 (a)
Hvcn1 16
Hvcn1 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hvcn1 35
  • 79.55 (n)
  • 75.84 (a)
oppossum
(Monodelphis domestica)
Mammalia HVCN1 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HVCN1 36
  • 73 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HVCN1 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves HVCN1 35
  • 66.95 (n)
  • 62.23 (a)
HVCN1 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HVCN1 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hvcn1 35
  • 58.89 (n)
  • 54.71 (a)
zebrafish
(Danio rerio)
Actinopterygii hvcn1 35
  • 52.65 (n)
  • 46.78 (a)
hvcn1 36
  • 46 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10149 36
  • 25 (a)
OneToOne
Species with no ortholog for HVCN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HVCN1 Gene

ENSEMBL:
Gene Tree for HVCN1 (if available)
TreeFam:
Gene Tree for HVCN1 (if available)

Paralogs for HVCN1 Gene

Paralogs for HVCN1 Gene

genes like me logo Genes that share paralogs with HVCN1: view

Variants for HVCN1 Gene

Sequence variations from dbSNP and Humsavar for HVCN1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs10849903 -- 110,674,514(+) GTGTC(C/T)CCACC intron-variant
rs10849904 -- 110,702,741(+) CCTCC(A/G)CCTCC intron-variant
rs12818974 -- 110,660,231(+) attag(C/T)caggc intron-variant
rs12825286 -- 110,678,569(+) cctca(A/G)cccag intron-variant
rs12827429 -- 110,678,440(+) ATTTC(C/T)ttttt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HVCN1 Gene

Variant ID Type Subtype PubMed ID
esv2746356 CNV Deletion 23290073

Variation tolerance for HVCN1 Gene

Residual Variation Intolerance Score: 73.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.88; 18.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HVCN1 Gene

HapMap Linkage Disequilibrium report
HVCN1
Human Gene Mutation Database (HGMD)
HVCN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HVCN1 Gene

Disorders for HVCN1 Gene

Relevant External Links for HVCN1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HVCN1

No disorders were found for HVCN1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HVCN1 Gene

Publications for HVCN1 Gene

  1. Aspartatea88112 is the selectivity filter of the human voltage-gated proton channel. (PMID: 22020278) Musset B. … Decoursey T.E. (Nature 2011) 2 3 4 67
  2. pH regulation and beyond: unanticipated functions for the voltage-gated proton channel, HVCN1. (PMID: 20961760) Capasso M. … Dyer M.J. (Trends Cell Biol. 2011) 2 3
  3. Detailed comparison of expressed and native voltage-gated proton channel currents. (PMID: 18356202) Musset B. … DeCoursey T.E. (J. Physiol. (Lond.) 2008) 2 3
  4. A voltage sensor-domain protein is a voltage-gated proton channel. (PMID: 16556803) Sasaki M. … Okamura Y. (Science 2006) 2 3
  5. The pH-sensitive structure of the C-terminal domain of voltage-gated proton channel and the thermodynamic characteristics of ZnA^a8_ binding to this domain. (PMID: 25446125) Zhao Q. … Li S.J. (Biochem. Biophys. Res. Commun. 2015) 3

Products for HVCN1 Gene

Sources for HVCN1 Gene

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