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 trans... See more...

Aliases for HVCN1 Gene

Aliases for HVCN1 Gene

  • Hydrogen Voltage Gated Channel 1 2 3 5
  • Voltage Sensor Domain-Only Protein 2 3 4
  • VSOP 2 3 4
  • Hydrogen Voltage-Gated Channel 1 2 4
  • Voltage-Gated Hydrogen Channel 1 3 4
  • HV1 3 4
  • MGC15619 2
  • HVCN1 5
  • Hv1 2

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. Diseases associated with HVCN1 include Alzheimer Disease 17 and Tuberculous Empyema. Among its related pathways are Reproduction and Innate Immune System. Gene Ontology (GO) annotations related to this gene include ion channel activity and voltage-gated proton channel activity. An important paralog of this gene is TNS1.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HVCN1 Gene

Genomics for HVCN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HVCN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J110686 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.4 +16.0 16035 5.8 NCOR1 POLR2A ZSCAN16 SIN3A SP2 TAL1 EBF1 CBFB SMARCA5 PRDM10 HSALNG0094005 lnc-PPP1CC-2 HVCN1 TCTN1 FAM216A GLTP piR-57134-041
GH12J110705 Enhancer 0.5 Ensembl 250.7 -0.5 -451 0.4 CEBPA SAP130 CTCF NRF1 CEBPG ARID4B ZNF384 CEBPB HSALNG0094007 HVCN1 HSALNG0094006 lnc-PPP1CC-1 PPP1CC
GH12J110542 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 10.9 +160.0 159978 5 ZNF600 JUND ZNF580 ATF3 ZSCAN16 ZIC2 YY1 CEBPB TRIM22 FEZF1 HVCN1 TCTN1 FAM216A RF00017-1150 piR-48759-069 PPTC7 VPS29
GH12J110604 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 14.1 +99.0 99041 1.9 BCLAF1 POLR2A ZNF10 CTCF TRIM22 IRF2 SMARCA5 SPI1 ELF1 ZNF384 lnc-TCTN1-1 HVCN1 ARPC3 PPTC7 HSALNG0093994 TCTN1
GH12J110667 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.8 +34.4 34367 6.3 BCLAF1 SP1 ZNF207 BCL11A ZNF592 TRIM22 IRF4 ZNF585B EBF1 CBFB ARPC3 ATXN2 IFT81 HVCN1 TCTN1 FAM216A piR-36746-003 HSALNG0094004 lnc-PPP1CC-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HVCN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HVCN1

Top Transcription factor binding sites by QIAGEN in the HVCN1 gene promoter:
  • FOXD3
  • FOXI1
  • HFH-3
  • Nkx6-1
  • RFX1

Genomic Locations for HVCN1 Gene

Latest Assembly
chr12:110,627,841-110,704,950
(GRCh38/hg38)
Size:
77,110 bases
Orientation:
Minus strand

Previous Assembly
chr12:111,086,491-111,127,582
(GRCh37/hg19 by Entrez Gene)
Size:
41,092 bases
Orientation:
Minus strand

chr12:111,065,646-111,142,755
(GRCh37/hg19 by Ensembl)
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; 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

Post-translational modifications for HVCN1 Gene

No data available for DME Specific Peptides for HVCN1 Gene

Domains & Families for HVCN1 Gene

Gene Families for HVCN1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for HVCN1 Gene

Suggested Antigen Peptide Sequences for HVCN1 Gene

GenScript: Design optimal peptide antigens:
  • Hydrogen voltage-gated channel 1 variant 3 (D2KFF9_HUMAN)
  • Voltage sensor domain-only protein (HVCN1_HUMAN)

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 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.
UniProtKB/Swiss-Prot EnzymeRegulation:
The dimers display cooperative channel gating (By similarity). The channel activity is inhibited by zinc ions.

Phenotypes From GWAS Catalog for HVCN1 Gene

Gene Ontology (GO) - Molecular Function for HVCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0022843 voltage-gated cation channel activity EXP 18509058
GO:0030171 voltage-gated proton channel activity IEA,ISS 16556803
GO:0042802 identical protein binding IPI 18509058
genes like me logo Genes that share ontologies with HVCN1: view
genes like me logo Genes that share phenotypes with HVCN1: view

Animal Models for research

  • Taconic Biosciences Mouse Models for HVCN1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HVCN1

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HVCN1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 2
peroxisome 2
nucleus 2
cytosol 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for HVCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane IEA,IDA 22020278
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IDA 16554753
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with HVCN1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HVCN1 Gene

Pathways & Interactions for HVCN1 Gene

PathCards logo

SuperPathways for HVCN1 Gene

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

Pathways by source for HVCN1 Gene

Gene Ontology (GO) - Biological Process for HVCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0009268 response to pH ISS 16556803
GO:0010043 response to zinc ion ISS 16556803
GO:0032930 positive regulation of superoxide anion generation IEA --
GO:0034765 regulation of ion 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

(3) Drugs for HVCN1 Gene - From: DGIdb, IUPHAR, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydrogen Investigational Pharma 0
Cd<sup>2+</sup> Pharma Channel blocker 0
Zn<sup>2+</sup> Pharma Channel blocker 0
genes like me logo Genes that share compounds with HVCN1: view

Transcripts for HVCN1 Gene

mRNA/cDNA for HVCN1 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HVCN1

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

No ASD Table

Relevant External Links for HVCN1 Gene

GeneLoc Exon Structure for
HVCN1

Expression for HVCN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for HVCN1 Gene



Protein tissue co-expression partners for HVCN1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HVCN1

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.

Evidence on tissue expression from TISSUES for HVCN1 Gene

  • Nervous system(4.5)
  • Lung(4.4)
  • Eye(4.2)
  • Blood(2.5)
  • Lymph node(2.3)
  • Intestine(2.3)
  • Spleen(2.2)
genes like me logo Genes that share expression patterns with HVCN1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HVCN1 Gene

Orthologs for HVCN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HVCN1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HVCN1 30
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia HVCN1 29 30
  • 86.35 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HVCN1 29 30
  • 85.45 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Hvcn1 29 16 30
  • 79.93 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hvcn1 29
  • 79.55 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia HVCN1 30
  • 73 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HVCN1 30
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HVCN1 29 30
  • 66.95 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HVCN1 30
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hvcn1 29
  • 58.89 (n)
Zebrafish
(Danio rerio)
Actinopterygii hvcn1 29 30
  • 52.65 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10149 30
  • 25 (a)
OneToOne
Species where no ortholog for HVCN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for HVCN1: view image
Alliance of Genome Resources:
Additional Orthologs for HVCN1

Paralogs for HVCN1 Gene

Paralogs for HVCN1 Gene

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

Variants for HVCN1 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HVCN1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for HVCN1 Gene

Human Gene Mutation Database (HGMD)
HVCN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HVCN1
Leiden Open Variation Database (LOVD)
HVCN1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HVCN1 Gene

Disorders for HVCN1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for HVCN1 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search HVCN1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HVCN1

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

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

Publications for HVCN1 Gene

  1. Aspartate 112 is the selectivity filter of the human voltage-gated proton channel. (PMID: 22020278) Musset B … Decoursey TE (Nature 2011) 2 3 4
  2. pH regulation and beyond: unanticipated functions for the voltage-gated proton channel, HVCN1. (PMID: 20961760) Capasso M … Dyer MJ (Trends in cell biology 2011) 2 3
  3. Identification of Thr29 as a critical phosphorylation site that activates the human proton channel Hvcn1 in leukocytes. (PMID: 20037153) Musset B … DeCoursey TE (The Journal of biological chemistry 2010) 3 4
  4. The role and structure of the carboxyl-terminal domain of the human voltage-gated proton channel Hv1. (PMID: 20147290) Li SJ … Sun F (The Journal of biological chemistry 2010) 3 4
  5. Detailed comparison of expressed and native voltage-gated proton channel currents. (PMID: 18356202) Musset B … DeCoursey TE (The Journal of physiology 2008) 2 3

Products for HVCN1 Gene

Sources for HVCN1 Gene