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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
  • Voltage-Gated Hydrogen Channel 1 3 4
  • Hydrogen Voltage-Gated Channel 1 2 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. Diseases associated with HVCN1 include Acute Retinal Necrosis Syndrome. Among its related pathways are Innate Immune System and Fertilization. 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 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

Additional gene information for HVCN1 Gene

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

Genomics for HVCN1 Gene

GeneHancer (GH) Regulatory Elements for HVCN1 Gene

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 EPDnew Ensembl ENCODE dbSUPER 600.4 +16.2 16235 6.2 ZFX CBFA2T2 ZNF687 MLLT1 IKZF1 GLIS2 POLR2A ZBTB33 PRDM10 BACH1 HVCN1 TCTN1 FAM216A GLTP RN7SL387P
GH12J110705 Enhancer 0.6 Ensembl 600.7 -0.8 -751 1 CEBPG ZNF384 CEBPA CTCF SAP130 NRF1 ARID4B KDM1A HVCN1 GC12M110712
GH12J110604 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 14.1 +99.0 99041 1.9 ZNF687 MLLT1 IKZF1 POLR2A IKZF2 TRIM22 ZNF10 RUNX3 BCLAF1 ELF1 HVCN1 ARPC3 PPTC7 TCTN1
GH12J110542 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.9 +160.7 160749 7.2 NKRF ZNF121 ZNF687 ZSCAN21 SP7 SP1 PRDM1 MLLT1 MZF1 IKZF1 ARPC3 FAM216A HVCN1 TCTN1 PPTC7 VPS29
GH12J110666 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.8 +35.0 34994 7.5 SP1 ZNF687 RELA CREM MLLT1 ZBED1 IKZF1 POLR2A ZBTB33 IKZF2 ARPC3 ATXN2 IFT81 HVCN1 TCTN1 FAM216A RN7SL387P
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for HVCN1 Gene

Genomic Locations for HVCN1 Gene
chr12:110,627,841-110,704,950
(GRCh38/hg38)
Size:
77,110 bases
Orientation:
Minus strand
chr12:111,065,646-111,142,755
(GRCh37/hg19)
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

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:0005244 voltage-gated ion channel activity IEA --
GO:0022843 voltage-gated cation channel activity EXP 18509058
GO:0030171 voltage-gated proton channel activity 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 Model Products

  • Taconic Biosciences Mouse Models for HVCN1

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for HVCN1 - Now 50% OFF >
  • * HVCN1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * HVCN1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids 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
mitochondrion 2
peroxisome 2
extracellular 1
nucleus 1
cytosol 0
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for HVCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 22020278
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IDA 16554753
GO:0030667 secretory granule membrane TAS --
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:0034765 regulation of ion transmembrane transport IEA --
GO:0035036 sperm-egg recognition TAS --
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, Antagonist, Pore Blocker 0
Zn<sup>2+</sup> Pharma Positive, Allosteric regulator, Channel blocker, Inhibition, Potentiation, Agonist, Antagonist, Pore Blocker 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:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for HVCN1 - Now 50% OFF >
  • * HVCN1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * HVCN1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids 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
ECgene alternative splicing isoforms for
HVCN1

Expression for HVCN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of HVCN1 Gene:

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(4.3)
  • Eye(4.2)
  • Blood(2.4)
  • Lymph node(2.1)
  • Spleen(2)
genes like me logo Genes that share expression patterns with HVCN1: view

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 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HVCN1 35 34
  • 86.35 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HVCN1 35 34
  • 85.45 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hvcn1 17 35 34
  • 79.93 (n)
rat
(Rattus norvegicus)
Mammalia Hvcn1 34
  • 79.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HVCN1 35
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HVCN1 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves HVCN1 35 34
  • 66.95 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HVCN1 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hvcn1 34
  • 58.89 (n)
zebrafish
(Danio rerio)
Actinopterygii hvcn1 35 34
  • 52.65 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10149 35
  • 25 (a)
OneToOne
Species where no ortholog for HVCN1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for HVCN1: view image

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 Variation AA Info Type
rs1000095775 -- 110,668,414(-) A/C intron_variant
rs1000208336 -- 110,702,006(-) C/A/T genic_upstream_transcript_variant, intron_variant
rs1000245191 -- 110,706,483(-) A/T upstream_transcript_variant
rs1000332917 -- 110,682,112(-) T/C intron_variant
rs1000422694 -- 110,688,608(-) A/T 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)

Additional Variant Information for HVCN1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for HVCN1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HVCN1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
acute retinal necrosis syndrome
  • acute retinal necrosis
- 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 58
  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 58
  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 58
  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 58
  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 58

Products for HVCN1 Gene

Sources for HVCN1 Gene

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