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    HVCN1 hydrogen voltage gated channel 1 [ Homo sapiens (human) ]

    Gene ID: 84329, updated on 28-Oct-2024

    Summary

    Official Symbol
    HVCN1provided by HGNC
    Official Full Name
    hydrogen voltage gated channel 1provided by HGNC
    Primary source
    HGNC:HGNC:28240
    See related
    Ensembl:ENSG00000122986 MIM:611227; AllianceGenome:HGNC:28240
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HV1; VSOP
    Summary
    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]
    Expression
    Broad expression in lymph node (RPKM 18.5), testis (RPKM 16.2) and 21 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HVCN1 in Genome Data Viewer
    Location:
    12q24.11
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (110648686..110704952, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (110626380..110682642, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (111086491..111127582, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RAD9 checkpoint clamp component B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110978258-110978758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110978759-110979259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7008 Neighboring gene protein phosphatase targeting COQ7 Neighboring gene HNF4 motif-containing MPRA enhancer 250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4857 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7013 Neighboring gene RNA, 7SL, cytoplasmic 387, pseudogene Neighboring gene tectonic family member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7014 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:111099215-111099717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7016 Neighboring gene uncharacterized LOC124903017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7020 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7021 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:111124990-111125818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4859 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4860 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4861 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7026 Neighboring gene protein phosphatase 1 catalytic subunit gamma Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:111180421-111180929 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:111181691-111182275 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7027 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:111218408-111218569 Neighboring gene CRISPRi-validated cis-regulatory element chr12.3641 Neighboring gene NANOG hESC enhancer GRCh37_chr12:111246997-111247498 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:111251419-111251918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7028 Neighboring gene ribosomal protein L29 pseudogene 25

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC15619

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables voltage-gated monoatomic cation channel activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables voltage-gated proton channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables voltage-gated proton channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables voltage-gated proton channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables voltage-gated proton channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell redox homeostasis TAS
    Traceable Author Statement
    more info
     
    involved_in cellular response to pH IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to zinc ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of superoxide anion generation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proton transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proton transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proton transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in regulation of acrosome reaction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of intracellular pH IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of intracellular pH ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of reactive oxygen species biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to pH ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in response to zinc ion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to zinc ion ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in single fertilization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of monoatomic ion channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in phagocytic vesicle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in phagocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in secretory granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    voltage-gated hydrogen channel 1
    Names
    voltage sensor domain-only protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001040107.2NP_001035196.1  voltage-gated hydrogen channel 1 isoform 1

      See identical proteins and their annotated locations for NP_001035196.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the shorter protein (isoform 1). Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC144522, BP375483, DB310328
      Consensus CDS
      CCDS31900.1
      UniProtKB/Swiss-Prot
      A8MQ37, B4DEB3, F8WCH5, Q6UW11, Q96D96, Q96IS5
      UniProtKB/TrEMBL
      D2KFF9
      Conserved Domains (1) summary
      pfam16799
      Location:226273
      VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
    2. NM_001256413.2NP_001243342.1  voltage-gated hydrogen channel 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC144522, AK293543
      Consensus CDS
      CCDS58278.1
      UniProtKB/TrEMBL
      D2KFF9
      Related
      ENSP00000412052.2, ENST00000439744.6
      Conserved Domains (1) summary
      pfam16799
      Location:206253
      VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
    3. NM_032369.4NP_115745.2  voltage-gated hydrogen channel 1 isoform 1

      See identical proteins and their annotated locations for NP_115745.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC009731, BP369986, DB310328
      Consensus CDS
      CCDS31900.1
      UniProtKB/Swiss-Prot
      A8MQ37, B4DEB3, F8WCH5, Q6UW11, Q96D96, Q96IS5
      UniProtKB/TrEMBL
      D2KFF9
      Related
      ENSP00000242607.8, ENST00000242607.13
      Conserved Domains (1) summary
      pfam16799
      Location:226273
      VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      110648686..110704952 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538846.3XP_011537148.1  voltage-gated hydrogen channel 1 isoform X2

      See identical proteins and their annotated locations for XP_011537148.1

      UniProtKB/Swiss-Prot
      A8MQ37, B4DEB3, F8WCH5, Q6UW11, Q96D96, Q96IS5
      UniProtKB/TrEMBL
      D2KFF9
      Conserved Domains (1) summary
      pfam16799
      Location:226273
      VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
    2. XM_017020026.3XP_016875515.1  voltage-gated hydrogen channel 1 isoform X1

      UniProtKB/TrEMBL
      D2KFF9
      Conserved Domains (1) summary
      pfam16799
      Location:273320
      VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
    3. XM_011538847.2XP_011537149.1  voltage-gated hydrogen channel 1 isoform X2

      See identical proteins and their annotated locations for XP_011537149.1

      UniProtKB/Swiss-Prot
      A8MQ37, B4DEB3, F8WCH5, Q6UW11, Q96D96, Q96IS5
      UniProtKB/TrEMBL
      D2KFF9
      Conserved Domains (1) summary
      pfam16799
      Location:226273
      VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
    4. XM_024449225.2XP_024304993.1  voltage-gated hydrogen channel 1 isoform X2

      UniProtKB/Swiss-Prot
      A8MQ37, B4DEB3, F8WCH5, Q6UW11, Q96D96, Q96IS5
      UniProtKB/TrEMBL
      D2KFF9
      Conserved Domains (1) summary
      pfam16799
      Location:226273
      VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
    5. XM_011538842.3XP_011537144.1  voltage-gated hydrogen channel 1 isoform X1

      See identical proteins and their annotated locations for XP_011537144.1

      UniProtKB/TrEMBL
      D2KFF9
      Conserved Domains (1) summary
      pfam16799
      Location:273320
      VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
    6. XM_011538839.3XP_011537141.1  voltage-gated hydrogen channel 1 isoform X1

      See identical proteins and their annotated locations for XP_011537141.1

      UniProtKB/TrEMBL
      D2KFF9
      Conserved Domains (1) summary
      pfam16799
      Location:273320
      VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
    7. XM_005253948.3XP_005254005.1  voltage-gated hydrogen channel 1 isoform X2

      See identical proteins and their annotated locations for XP_005254005.1

      UniProtKB/Swiss-Prot
      A8MQ37, B4DEB3, F8WCH5, Q6UW11, Q96D96, Q96IS5
      UniProtKB/TrEMBL
      D2KFF9
      Conserved Domains (1) summary
      pfam16799
      Location:226273
      VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
    8. XM_011538840.4XP_011537142.1  voltage-gated hydrogen channel 1 isoform X1

      See identical proteins and their annotated locations for XP_011537142.1

      UniProtKB/TrEMBL
      D2KFF9
      Conserved Domains (1) summary
      pfam16799
      Location:273320
      VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
    9. XM_017020027.2XP_016875516.1  voltage-gated hydrogen channel 1 isoform X2

      UniProtKB/Swiss-Prot
      A8MQ37, B4DEB3, F8WCH5, Q6UW11, Q96D96, Q96IS5
      UniProtKB/TrEMBL
      D2KFF9
      Conserved Domains (1) summary
      pfam16799
      Location:226273
      VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
    10. XM_011538844.3XP_011537146.1  voltage-gated hydrogen channel 1 isoform X1

      See identical proteins and their annotated locations for XP_011537146.1

      UniProtKB/TrEMBL
      D2KFF9
      Conserved Domains (1) summary
      pfam16799
      Location:273320
      VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
    11. XM_011538845.3XP_011537147.1  voltage-gated hydrogen channel 1 isoform X2

      See identical proteins and their annotated locations for XP_011537147.1

      UniProtKB/Swiss-Prot
      A8MQ37, B4DEB3, F8WCH5, Q6UW11, Q96D96, Q96IS5
      UniProtKB/TrEMBL
      D2KFF9
      Related
      ENSP00000449601.1, ENST00000548312.5
      Conserved Domains (1) summary
      pfam16799
      Location:226273
      VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
    12. XM_011538841.3XP_011537143.1  voltage-gated hydrogen channel 1 isoform X1

      See identical proteins and their annotated locations for XP_011537143.1

      UniProtKB/TrEMBL
      D2KFF9
      Conserved Domains (1) summary
      pfam16799
      Location:273320
      VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
    13. XM_011538838.3XP_011537140.1  voltage-gated hydrogen channel 1 isoform X1

      See identical proteins and their annotated locations for XP_011537140.1

      UniProtKB/TrEMBL
      D2KFF9
      Conserved Domains (1) summary
      pfam16799
      Location:273320
      VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
    14. XM_047429670.1XP_047285626.1  voltage-gated hydrogen channel 1 isoform X2

      UniProtKB/Swiss-Prot
      A8MQ37, B4DEB3, F8WCH5, Q6UW11, Q96D96, Q96IS5
    15. XM_047429669.1XP_047285625.1  voltage-gated hydrogen channel 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      110626380..110682642 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373483.1XP_054229458.1  voltage-gated hydrogen channel 1 isoform X2

      UniProtKB/Swiss-Prot
      A8MQ37, B4DEB3, F8WCH5, Q6UW11, Q96D96, Q96IS5
    2. XM_054373476.1XP_054229451.1  voltage-gated hydrogen channel 1 isoform X1

    3. XM_054373479.1XP_054229454.1  voltage-gated hydrogen channel 1 isoform X2

      UniProtKB/Swiss-Prot
      A8MQ37, B4DEB3, F8WCH5, Q6UW11, Q96D96, Q96IS5
    4. XM_054373482.1XP_054229457.1  voltage-gated hydrogen channel 1 isoform X2

      UniProtKB/Swiss-Prot
      A8MQ37, B4DEB3, F8WCH5, Q6UW11, Q96D96, Q96IS5
    5. XM_054373475.1XP_054229450.1  voltage-gated hydrogen channel 1 isoform X1

    6. XM_054373471.1XP_054229446.1  voltage-gated hydrogen channel 1 isoform X1

    7. XM_054373481.1XP_054229456.1  voltage-gated hydrogen channel 1 isoform X2

      UniProtKB/Swiss-Prot
      A8MQ37, B4DEB3, F8WCH5, Q6UW11, Q96D96, Q96IS5
    8. XM_054373474.1XP_054229449.1  voltage-gated hydrogen channel 1 isoform X1

    9. XM_054373477.1XP_054229452.1  voltage-gated hydrogen channel 1 isoform X2

      UniProtKB/Swiss-Prot
      A8MQ37, B4DEB3, F8WCH5, Q6UW11, Q96D96, Q96IS5
    10. XM_054373472.1XP_054229447.1  voltage-gated hydrogen channel 1 isoform X1

    11. XM_054373478.1XP_054229453.1  voltage-gated hydrogen channel 1 isoform X2

      UniProtKB/Swiss-Prot
      A8MQ37, B4DEB3, F8WCH5, Q6UW11, Q96D96, Q96IS5
    12. XM_054373473.1XP_054229448.1  voltage-gated hydrogen channel 1 isoform X1

    13. XM_054373470.1XP_054229445.1  voltage-gated hydrogen channel 1 isoform X1

    14. XM_054373480.1XP_054229455.1  voltage-gated hydrogen channel 1 isoform X2

      UniProtKB/Swiss-Prot
      A8MQ37, B4DEB3, F8WCH5, Q6UW11, Q96D96, Q96IS5