• Gene id: 84329

Gene Summary

• Gene Symbol: HVCN1   Gene   UCSC   Ensembl
• Aliases: HV1, VSOP
• Gene name: hydrogen voltage gated channel 1
• Alternate names: voltage-gated hydrogen channel 1, voltage sensor domain-only protein,
• Gene location: 12q24.11 (110704944: 110648685)     Exons: 16     NC_000012.12
• Gene summary(Entrez): 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 pro
• OMIM: 611227

Protein Summary

• Protein general information: Q96D96  
  • Name: Voltage gated hydrogen channel 1 (Hydrogen voltage gated channel 1) (HV1) (Voltage sensor domain only protein)
  • Length: 273  
  • Mass: 31683
  • Tissue specificity: Enriched in immune tissues, such as lymph nodes, B-lymphocytes, monocytes and spleen. {ECO
• Sequence:

  MATWDEKAVTRRAKVAPAERMSKFLRHFTVVGDDYHAWNINYKKWENEEEEEEEEQPPPTPVSGEEGRAAAPDVA
  PAPGPAPRAPLDFRGMLRKLFSSHRFQVIIICLVVLDALLVLAELILDLKIIQPDKNNYAAMVFHYMSITILVFF
  MMEIIFKLFVFRLEFFHHKFEILDAVVVVVSFILDIVLLFQEHQFEALGLLILLRLWRVARIINGIIISVKTRSE
  RQLLRLKQMNVQLAAKIQHLEFSCSEKEQEIERLNKLLRQHGLLGEVN

• Structural information:
  • Interpro: IPR031846  IPR005821  IPR031844  IPR027359  
  • PDB: 3A2A 5OQK
  • PDBsum: 3A2A 5OQK
  • DIP: 46112
  • STRING: ENSP00000349181
• Other Databases: GeneCards:  HVCN1  Malacards:  HVCN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030171	voltage-gated proton channel activity	IDA	molecular function
GO:0010043	response to zinc ion	IDA	biological process
GO:0009268	response to pH	ISS	biological process
GO:1902600	proton transmembrane transport	ISS	biological process
GO:0030171	voltage-gated proton channel activity	ISS	molecular function
GO:0010043	response to zinc ion	ISS	biological process
GO:0016021	integral component of membrane	IDA	cellular component
GO:1902600	proton transmembrane transport	IDA	biological process
GO:0071467	cellular response to pH	IDA	biological process
GO:0071294	cellular response to zinc ion	IDA	biological process
GO:0030171	voltage-gated proton channel activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0005216	ion channel activity	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030171	voltage-gated proton channel activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0005244	voltage-gated ion channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0022843	voltage-gated cation channel activity	EXP	molecular function
GO:0022843	voltage-gated cation channel activity	EXP	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030667	secretory granule membrane	TAS	cellular component
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0035036	sperm-egg recognition	TAS	biological process
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0045454	cell redox homeostasis	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0010043	response to zinc ion	IEA	biological process
GO:0009268	response to pH	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0030171	voltage-gated proton channel activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray