ATP6V1D (ATPase H+ transporting V1 subunit D)

2014-11-01 Affiliation

Identity

HGNC

ATP6V1D

LOCATION

14q23.3

LOCUSID

51382

ALIAS

ATP6M,VATD,VMA8

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: 51382
MIM: 609398
HGNC: 13527
Ensembl: ENSG00000100554

Variants:

dbSNP: 51382
ClinVar: 51382
TCGA: ENSG00000100554
COSMIC: ATP6V1D

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000100554	ENST00000216442	Q9Y5K8
ENSG00000100554	ENST00000216442	A0A024R683
ENSG00000100554	ENST00000553408	H0YJ55
ENSG00000100554	ENST00000553687	G3V5S7
ENSG00000100554	ENST00000554087	Q9Y5K8
ENSG00000100554	ENST00000554087	A0A024R683
ENSG00000100554	ENST00000554236	G3V559
ENSG00000100554	ENST00000555012	G3V341
ENSG00000100554	ENST00000555431	G3V2S6
ENSG00000100554	ENST00000555474	G3V2V6
ENSG00000100554	ENST00000555625	H0YJH8
ENSG00000100554	ENST00000555723	H0YJS0
ENSG00000100554	ENST00000556058	G3V3T8

Expression (GTEx)

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
Metabolic pathways	KEGG	hsa01100
Collecting duct acid secretion	KEGG	ko04966
Collecting duct acid secretion	KEGG	hsa04966
Phagosome	KEGG	ko04145
Phagosome	KEGG	hsa04145
Rheumatoid arthritis	KEGG	ko05323
Rheumatoid arthritis	KEGG	hsa05323
Synaptic vesicle cycle	KEGG	ko04721
Synaptic vesicle cycle	KEGG	hsa04721
V-type ATPase, eukaryotes	KEGG	hsa_M00160
V-type ATPase, eukaryotes	KEGG	M00160
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
Neutrophil degranulation	REACTOME	R-HSA-6798695

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
25006744	2014	Genome-wide association identifies regulatory Loci associated with distinct local histogram emphysema patterns.	41
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11

Citation

Dessen P

ATP6V1D (ATPase H+ transporting V1 subunit D)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60644/atp6v1d