HVCN1 (hydrogen voltage gated channel 1)

2011-10-01  

Identity

HGNC
HVCN1
LOCATION
12q24.11
LOCUSID
84329
ALIAS
HV1,VSOP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84329
MIM: 611227
HGNC: 28240
Ensembl: ENSG00000122986

Variants:

dbSNP: 84329
ClinVar: 84329
TCGA: ENSG00000122986
COSMIC: HVCN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122986ENST00000242607Q96D96
ENSG00000122986ENST00000356742Q96D96
ENSG00000122986ENST00000439744Q96D96
ENSG00000122986ENST00000546713F8W0B3
ENSG00000122986ENST00000547887F8VS40
ENSG00000122986ENST00000548312Q96D96
ENSG00000122986ENST00000549442F8VPF7
ENSG00000122986ENST00000620084Q96D96

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
ReproductionREACTOMER-HSA-1474165
FertilizationREACTOMER-HSA-1187000
Sperm Motility And TaxesREACTOMER-HSA-1300642
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
165547532006A voltage-gated proton-selective channel lacking the pore domain.266
201447582010Acid extrusion from human spermatozoa is mediated by flagellar voltage-gated proton channel.124
185090582008Dimeric subunit stoichiometry of the human voltage-dependent proton channel Hv1.88
223889602012The voltage-gated proton channel Hv1 enhances brain damage from ischemic stroke.78
205438282010An aqueous H+ permeation pathway in the voltage-gated proton channel Hv1.71
220202782011Aspartate 112 is the selectivity filter of the human voltage-gated proton channel.70
192332002009Functional reconstitution of purified human Hv1 H+ channels.54
218435032012Water wires in atomistic models of the Hv1 proton channel.43
205480532010Function of the HVCN1 proton channel in airway epithelia and a naturally occurring mutation, M91T.39
223672122012Clinicopathological and biological significance of human voltage-gated proton channel Hv1 protein overexpression in breast cancer.33

Citation

Dessen P

HVCN1 (hydrogen voltage gated channel 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-10-01

Online version: http://atlasgeneticsoncology.org/gene/52468/hvcn1-(hydrogen-voltage-gated-channel-1)