ATP6V1H (ATPase H+ transporting V1 subunit H)

2014-11-01 Affiliation

Identity

HGNC

ATP6V1H

LOCATION

8q11.23

LOCUSID

51606

ALIAS

CGI-11,MSTP042,NBP1,SFD,SFDalpha,SFDbeta,VMA13

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 51606
MIM: 608861
HGNC: 18303
Ensembl: ENSG00000047249

Variants:

dbSNP: 51606
ClinVar: 51606
TCGA: ENSG00000047249
COSMIC: ATP6V1H

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000047249	ENST00000355221	Q9UI12
ENSG00000047249	ENST00000355221	A0A024R7X3
ENSG00000047249	ENST00000359530	Q9UI12
ENSG00000047249	ENST00000359530	A0A024R7U9
ENSG00000047249	ENST00000396774	Q9UI12
ENSG00000047249	ENST00000396774	A0A024R7U9
ENSG00000047249	ENST00000519588	E5RK31
ENSG00000047249	ENST00000520188	G3V126
ENSG00000047249	ENST00000521275	E5RHH0
ENSG00000047249	ENST00000522849	H0YB41
ENSG00000047249	ENST00000524164	E5RJG1
ENSG00000047249	ENST00000524234	E5RG49

Expression (GTEx)

100

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

Pathway	Source	External ID
Oxidative phosphorylation	KEGG	ko00190
mTOR signaling pathway	KEGG	ko04150
Vibrio cholerae infection	KEGG	ko05110
Epithelial cell signaling in Helicobacter pylori infection	KEGG	ko05120
Oxidative phosphorylation	KEGG	hsa00190
mTOR signaling pathway	KEGG	hsa04150
Vibrio cholerae infection	KEGG	hsa05110
Epithelial cell signaling in Helicobacter pylori infection	KEGG	hsa05120
Lysosome	KEGG	ko04142
Lysosome	KEGG	hsa04142
Metabolic pathways	KEGG	hsa01100
Phagosome	KEGG	ko04145
Phagosome	KEGG	hsa04145
Rheumatoid arthritis	KEGG	ko05323
Rheumatoid arthritis	KEGG	hsa05323
Tuberculosis	KEGG	ko05152
Tuberculosis	KEGG	hsa05152
Synaptic vesicle cycle	KEGG	ko04721
Synaptic vesicle cycle	KEGG	hsa04721
V-type ATPase, eukaryotes	KEGG	hsa_M00160
V-type ATPase, eukaryotes	KEGG	M00160
Disease	REACTOME	R-HSA-1643685
Infectious disease	REACTOME	R-HSA-5663205
HIV Infection	REACTOME	R-HSA-162906
Host Interactions of HIV factors	REACTOME	R-HSA-162909
The role of Nef in HIV-1 replication and disease pathogenesis	REACTOME	R-HSA-164952
Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters	REACTOME	R-HSA-164938
Nef Mediated CD4 Down-regulation	REACTOME	R-HSA-167590
Nef Mediated CD8 Down-regulation	REACTOME	R-HSA-182218
ROS, RNS production in phagocytes	REACTOME	R-HSA-1222556
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Signal Transduction	REACTOME	R-HSA-162582
Signaling by Insulin receptor	REACTOME	R-HSA-74752
Insulin receptor recycling	REACTOME	R-HSA-77387
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
Iron uptake and transport	REACTOME	R-HSA-917937
Transferrin endocytosis and recycling	REACTOME	R-HSA-917977
Ion channel transport	REACTOME	R-HSA-983712

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19815536	2010	The Mycobacterium bovis bacille Calmette-Guerin phagosome proteome.	27
22360420	2012	Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.	18
28158191	2017	ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.	13
18368028	2008	The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction.	11
27924156	2016	Deficiency of ATP6V1H Causes Bone Loss by Inhibiting Bone Resorption and Bone Formation through the TGF-β1 Pathway.	10
21871445	2011	Decreased expression of ATP6V1H in type 2 diabetes: a pilot report on the diabetes risk study in Mexican Americans.	6
29751835	2018	Genome-wide association study identified ATP6V1H locus influencing cerebrospinal fluid BACE activity.	2

Citation

Dessen P

ATP6V1H (ATPase H+ transporting V1 subunit H)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60650/atp6v1h-(atpase-h+-transporting-v1-subunit-h)