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

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: mouse all
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Genomic context

Location:: 12q24.11

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (110648686..110704952, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (110626380..110682642, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (111086491..111127582, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Trp207 regulation of voltage-dependent activation of human Hv1 proton channel.
Title: Trp207 regulation of voltage-dependent activation of human H(v)1 proton channel.
Arachidonic acid reverses cholesterol and zinc inhibition of human voltage-gated proton channels.
Title: Arachidonic acid reverses cholesterol and zinc inhibition of human voltage-gated proton channels.
Genetic variation of staphylococcal LukAB toxin determines receptor tropism.
Title: Genetic variation of staphylococcal LukAB toxin determines receptor tropism.
Direct activation of the proton channel by albumin leads to human sperm capacitation and sustained release of inflammatory mediators by neutrophils.
Title: Direct activation of the proton channel by albumin leads to human sperm capacitation and sustained release of inflammatory mediators by neutrophils.
Regulation of Neutrophil Functions by Hv1/VSOP Voltage-Gated Proton Channels.
Title: Regulation of Neutrophil Functions by Hv1/VSOP Voltage-Gated Proton Channels.
Insights on small molecule binding to the Hv1 proton channel from free energy calculations with molecular dynamics simulations.
Title: Insights on small molecule binding to the Hv1 proton channel from free energy calculations with molecular dynamics simulations.
The voltage-gated proton channel hHv1 is functionally expressed in human chorion-derived mesenchymal stem cells.
Title: The voltage-gated proton channel hHv1 is functionally expressed in human chorion-derived mesenchymal stem cells.
Dimer interaction in the Hv1 proton channel.
Title: Dimer interaction in the Hv1 proton channel.
Voltage-gated proton channels exist in the plasma membrane of human oocytes.
Title: Voltage-gated proton channels exist in the plasma membrane of human oocytes.
The limited growth thus appears to be independent of oxidant production by NADPH oxidase molecules and to be mediated by cell adhesion molecules. Although HV1 KO and KD affect certain cellular mechanisms differently, both implicate HV1-mediated pathways for control of tumor growth in the MDA-MB-231 cell line
Title: Expression and function of voltage gated proton channels (Hv1) in MDA-MB-231 cells.

Submit: New GeneRIF Correction See all GeneRIFs (50)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical 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

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Preferred Names: voltage-gated hydrogen channel 1

Names: voltage sensor domain-only protein

NCBI Reference Sequences (RefSeq)

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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)

NM_001040107.2 → NP_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:226 → 273

VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
NM_001256413.2 → NP_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:206 → 253

VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
NM_032369.4 → NP_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:226 → 273

VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

110648686..110704952 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011538846.3 → XP_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:226 → 273

VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
XM_017020026.3 → XP_016875515.1 voltage-gated hydrogen channel 1 isoform X1

UniProtKB/TrEMBL

D2KFF9

Conserved Domains (1) summary

pfam16799
Location:273 → 320

VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
XM_011538847.2 → XP_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:226 → 273

VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
XM_024449225.2 → XP_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:226 → 273

VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
XM_011538842.3 → XP_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:273 → 320

VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
XM_011538839.3 → XP_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:273 → 320

VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
XM_005253948.3 → XP_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:226 → 273

VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
XM_011538840.4 → XP_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:273 → 320

VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
XM_017020027.2 → XP_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:226 → 273

VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
XM_011538844.3 → XP_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:273 → 320

VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
XM_011538845.3 → XP_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:226 → 273

VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
XM_011538841.3 → XP_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:273 → 320

VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
XM_011538838.3 → XP_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:273 → 320

VGPC1_C; C-terminal membrane-localization domain of ion-channel, VCN1
XM_047429670.1 → XP_047285626.1 voltage-gated hydrogen channel 1 isoform X2

UniProtKB/Swiss-Prot

A8MQ37, B4DEB3, F8WCH5, Q6UW11, Q96D96, Q96IS5
XM_047429669.1 → XP_047285625.1 voltage-gated hydrogen channel 1 isoform X1