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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HVCN1 Gene

protein-coding   GIFtS: 44
GCID: GC12M111086

hydrogen voltage-gated channel 1

 Explore 1 disease affiliated with
HVCN1 via our new
 Human Malady Compendium 
Biological research products
for HVCN1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Hydrogen Voltage-Gated Channel 11 2 3     Hv11
VSOP1 2 3     MGC156191
Voltage Sensor Domain-Only Protein2 3     Voltage-Gated Hydrogen Channel 12
HV12 3     

External Ids:    HGNC: 282401   Entrez Gene: 843292   Ensembl: ENSG000001229867   OMIM: 6112275   UniProtKB: Q96D963   

Export aliases for HVCN1 gene to outside databases

Previous GC identifers: GC12M109570 GC12M108104


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HVCN1:
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)

UniProtKB/Swiss-Prot: HVCN1_HUMAN, Q96D96
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

Gene Wiki entry for HVCN1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009775.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HVCN1 gene promoter:
         FOXI1   HFH-3   RFX1   Nkx6-1   FOXD3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): HVCN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for HVCN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HVCN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.11   Ensembl cytogenetic band:  12q24.11   HGNC cytogenetic band: 12q24.11

HVCN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HVCN1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M111086:  view genomic region     (about GC identifiers)

Start:
111,065,646 bp from pter      End:
111,142,755 bp from pter
Size:
77,110 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HVCN1_HUMAN, Q96D96 (See protein sequence)
Recommended Name: Voltage-gated hydrogen channel 1  
Size: 273 amino acids; 31683 Da
Subunit: Homodimer
Subcellular location: Membrane; Multi-pass membrane protein. Note=Associates mainly with intracellular compartment
membranes
Sequence caution: Sequence=AAQ89413.1; Type=Frameshift; Positions=164, 175;
1 PDB 3D structure from and Proteopedia for HVCN1:
3A2A (3D)    
Secondary accessions: A8MQ37 B4DEB3 F8WCH5 Q6UW11 Q96IS5
Alternative splicing: 4 isoforms:  Q96D96-1   Q96D96-2   Q96D96-3   Q96D96-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HVCN1: NX_Q96D96

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96D96

  • HVCN1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001035196.1  NP_001243342.1  NP_115745.2  

    ENSEMBL proteins: 
     ENSP00000449601   ENSP00000242607   ENSP00000349181   ENSP00000412052   ENSP00000450106  
     ENSP00000448379   ENSP00000447227  

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    Uscn Proteins for HVCN1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IDA16554753


    HVCN1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    HVCN1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR005821 Ion_trans_dom

    Graphical View of Domain Structure for InterPro Entry Q96D96

    ProtoNet protein and cluster: Q96D96

    UniProtKB/Swiss-Prot: HVCN1_HUMAN, Q96D96
    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
    Domain: The C-terminal coiled coil region mediates homodimerization and is essential for localization
    Similarity: Belongs to the hydrogen channel family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: HVCN1_HUMAN, Q96D96
    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
    Enzyme regulation: Sensitive to zinc ions and is inhibited by them

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    hsa-miR-3934 hsa-miR-125a-3p hsa-miR-513a-3p hsa-let-7a-2* hsa-miR-764 hsa-miR-493* hsa-miR-1207-3p hsa-let-7g*
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030171voltage-gated proton channel activity ISS16556803


    HVCN1 for ontologies           About GeneDecksing


    Animal Models:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Hvcn1):
     immune system 

    HVCN1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HVCN1

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009268response to pH ISS16556803
    GO:0010043response to zinc ion ISS16556803
    GO:0015992proton transport ISS16556803


    HVCN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HVCN1

    1 HMDB Compound for HVCN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    HydrogenHydrogen cation (see all 7)1333-74-0--
    Search CenterWatch for drugs/clinical trials and news about HVCN1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HVCN1 gene (3 alternative transcripts): 
    NM_001040107.1  NM_001256413.1  NM_032369.3  

    Unigene Cluster for HVCN1:

    Hydrogen voltage-gated channel 1
    Hs.334637  [show with all ESTs]
    Unigene Representative Sequence: BC032672
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000548312(uc001trq.1) ENST00000242607(uc001trs.1 uc001trt.1 uc010syd.1)
    ENST00000356742 ENST00000439744 ENST00000549442 ENST00000547887 ENST00000546713
    ENST00000546425

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    hsa-miR-3934 hsa-miR-125a-3p hsa-miR-513a-3p hsa-let-7a-2* hsa-miR-764 hsa-miR-493* hsa-miR-1207-3p hsa-let-7g*
    SwitchGear 3'UTR luciferase reporter plasmidHVCN1 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HVCN1
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    Additional cDNA sequence: 

    AK293543.1 BC007277.1 BC009731.1 BC032672.2 GU211002.1 

    9 DOTS entries:

    DT.95171711  DT.100029442  DT.218115  DT.97799234  DT.100010992  DT.100029446  DT.91969652  DT.95171712 
    DT.95353702 

    24/107 AceView cDNA sequences (see all 107):

    AI364713 BI834245 AI624251 BQ020897 AI439493 BQ069060 BM543473 BC032672 
    AA902810 AA807519 AA831648 BC007277 BQ707764 BQ052657 NM_032369 BX103110 
    CR596429 AI936701 BP340417 BM564174 AA251601 BM476403 AI819639 BC009731 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HVCN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGAACACTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See HVCN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HVCN1

    SOURCE GeneReport for Unigene cluster: Hs.334637

    UniProtKB/Swiss-Prot: HVCN1_HUMAN, Q96D96
    Tissue specificity: Enriched in immune tissues, such as lymph nodes, B-lymphocytes, monocytes and spleen

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for HVCN1 gene from 3/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves HVCN11 hydrogen voltage-gated channel 1 68.24(n)
    62.66(a)
      416871  NM_001030663.1  NP_001025834.1 
    lizard
    (Anolis carolinensis)
    Reptilia HVCN16
    C15orf276
    --
    60(a)
    6(a)
    1 ↔ 1
    possible ortholog
    GL343423.1(373378-376520)
    AAWZ02041122(1358-4712)
    zebrafish
    (Danio rerio)
    Actinopterygii hvcn11 hydrogen voltage-gated channel 1 54.08(n)
    48.5(a)
      436618  NM_001002346.1  NP_001002346.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HVCN1 gene
    C15orf272  

    HVCN1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/538 NCBI SNPs in HVCN1 are shown (see all 538    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1433811831,2
    --111087502(+) GCCCTA/GGGATG 3 -- int10--------
    rs1123409951,2
    --111087655(+) CAGATG/ATCTTT 3 -- int11Minor allele frequency- A:0.50CSA 2
    rs1914692871,2
    --111087668(+) TTTTTA/GAGACA 3 -- int10--------
    rs2011882041,2
    --111087957(+) CAGATG/TTGTCG 3 -- int10--------
    rs1112773151,2
    C--111087971(+) TTCTTT/ACCTTC 3 -- spd11Minor allele frequency- A:0.00CSA 1
    rs2013139631,2
    F--111087984(+) AGAGCA/CGCTGA 6 G C mis11Minor allele frequency- C:0.00EU 1323
    rs1405506781,2
    C,F,--111088036(+) TGTTTT/AAACCT 6 /L /F mis11Minor allele frequency- A:0.00NA 4550
    rs1452253881,2
    C,--111088061(+) CTGAAC/TGTGTC 6 H R mis11Minor allele frequency- T:0.00NA 4546
    rs1886718521,2
    --111088233(+) GGGAGA/GTCAGG 3 -- int10--------
    rs731918541,2
    --111088439(+) TCCCCA/GTAACA 3 -- int10--------

    HapMap Linkage Disequilibrium report for HVCN1 (111065646 - 111142755 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for HVCN1: --
    Human Gene Mutation Database (HGMD): HVCN1

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    HVCN1 for disorders           About GeneDecksing

    OMIM gene information: 611227    OMIM disorders: --

    1 disease for HVCN1:    About MalaCards
    breast cancer


    Export disorders for HVCN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HVCN1 gene, integrated from 9 sources (see all 33):
    (articles sorted by number of sources associating them with HVCN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Aspartatea88112 is the selectivity filter of the human voltage-gated proton channel. (PubMed id 22020278)1, 3 Musset B....Decoursey T.E. (2011)
    2. pH regulation and beyond: unanticipated functions for the voltage-gated proton channel, HVCN1. (PubMed id 20961760)1, 3 Capasso M....Dyer M.J. (2011)
    3. The role and structure of the carboxyl-terminal domai n of the human voltage-gated proton channel Hv1. (PubMed id 20147290)1, 2 Li S.J....Sun F. (2010)
    4. Detailed comparison of expressed and native voltage-gated proton channel currents. (PubMed id 18356202)1, 3 Musset B....DeCoursey T.E. (2008)
    5. A voltage sensor-domain protein is a voltage-gated proton channel. (PubMed id 16556803)1, 3 Sasaki M....Okamura Y. (2006)
    6. A voltage-gated proton-selective channel lacking the pore domain. (PubMed id 16554753)1, 2 Ramsey I.S.... Clapham D.E. (2006)
    7. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    8. Clinicopathological and biological significance of hum an voltage-gated proton channel Hv1 protein overexpression in breast cancer. (PubMed id 22367212)1 Wang Y....Li Q. (2012)
    9. Do Hv1 proton channels regulate the ionic and redox ho meostasis of phagosomes? (PubMed id 22056415)1 El Chemaly A. and Demaurex N. (2012)
    10. The voltage-gated proton channel Hv1 enhances brain da mage from ischemic stroke. (PubMed id 22388960)1 Wu L.J....Clapham D.E. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84329 HGNC: 28240 AceView: MGC15619 Ensembl:ENSG00000122986 euGenes: HUgn84329
    ECgene: HVCN1 H-InvDB: HVCN1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HVCN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HVCN1 gene:
    Search GeneIP for patents involving HVCN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
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