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

Gene ID: 84329, updated on 1-Jun-2020

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
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

Genomic context

See HVCN1 in Genome Data Viewer
Location:
12q24.11
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (110648686..110704945, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (111086491..111130276, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene protein phosphatase targeting COQ7 Neighboring gene HNF4 motif-containing MPRA enhancer 250 Neighboring gene RNA, 7SL, cytoplasmic 387, pseudogene Neighboring gene tectonic family member 1 Neighboring gene protein phosphatase 1 catalytic subunit gamma Neighboring gene CRISPRi-validated cis-regulatory element chr12.3641

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Homology

Clone Names

  • MGC15619

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
voltage-gated cation channel activity EXP
Inferred from Experiment
more info
PubMed 
voltage-gated proton channel activity IDA
Inferred from Direct Assay
more info
PubMed 
voltage-gated proton channel activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Process Evidence Code Pubs
cell redox homeostasis TAS
Traceable Author Statement
more info
 
cellular response to pH IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to zinc ion IDA
Inferred from Direct Assay
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
proton transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
proton transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
response to pH ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
response to zinc ion IDA
Inferred from Direct Assay
more info
PubMed 
response to zinc ion ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
sperm-egg recognition TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
phagocytic vesicle membrane TAS
Traceable Author Statement
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
secretory granule membrane TAS
Traceable Author Statement
more info
 
specific granule membrane TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    Q96D96
    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/Swiss-Prot
    Q96D96
    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
    Q96D96
    Related
    ENSP00000242607.8, ENST00000242607.12
    Conserved Domains (1) summary
    pfam16799
    Location:226273
    VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    110648686..110704945 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538846.2XP_011537148.1  voltage-gated hydrogen channel 1 isoform X2

    See identical proteins and their annotated locations for XP_011537148.1

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

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

    See identical proteins and their annotated locations for XP_011537149.1

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

    Conserved Domains (1) summary
    pfam16799
    Location:226273
    VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
  5. XM_011538842.2XP_011537144.1  voltage-gated hydrogen channel 1 isoform X1

    See identical proteins and their annotated locations for XP_011537144.1

    Conserved Domains (1) summary
    pfam16799
    Location:273320
    VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
  6. XM_011538839.2XP_011537141.1  voltage-gated hydrogen channel 1 isoform X1

    See identical proteins and their annotated locations for XP_011537141.1

    Conserved Domains (1) summary
    pfam16799
    Location:273320
    VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
  7. XM_005253948.2XP_005254005.1  voltage-gated hydrogen channel 1 isoform X2

    See identical proteins and their annotated locations for XP_005254005.1

    UniProtKB/Swiss-Prot
    Q96D96
    Conserved Domains (1) summary
    pfam16799
    Location:226273
    VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
  8. XM_011538840.3XP_011537142.1  voltage-gated hydrogen channel 1 isoform X1

    See identical proteins and their annotated locations for XP_011537142.1

    Conserved Domains (1) summary
    pfam16799
    Location:273320
    VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
  9. XM_011538844.2XP_011537146.1  voltage-gated hydrogen channel 1 isoform X1

    See identical proteins and their annotated locations for XP_011537146.1

    Conserved Domains (1) summary
    pfam16799
    Location:273320
    VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
  10. XM_011538841.2XP_011537143.1  voltage-gated hydrogen channel 1 isoform X1

    See identical proteins and their annotated locations for XP_011537143.1

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

    UniProtKB/Swiss-Prot
    Q96D96
    Related
    ENSP00000349181.5, ENST00000356742.9
    Conserved Domains (1) summary
    pfam16799
    Location:226273
    VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
  12. XM_011538845.2XP_011537147.1  voltage-gated hydrogen channel 1 isoform X2

    See identical proteins and their annotated locations for XP_011537147.1

    UniProtKB/Swiss-Prot
    Q96D96
    Related
    ENSP00000449601.1, ENST00000548312.5
    Conserved Domains (1) summary
    pfam16799
    Location:226273
    VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
  13. XM_011538838.2XP_011537140.1  voltage-gated hydrogen channel 1 isoform X1

    See identical proteins and their annotated locations for XP_011537140.1

    Conserved Domains (1) summary
    pfam16799
    Location:273320
    VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
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