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ATP6V1D ATPase H+ transporting V1 subunit D [ Homo sapiens (human) ]

Gene ID: 51382, updated on 21-Dec-2019

Summary

Official Symbol
ATP6V1Dprovided by HGNC
Official Full Name
ATPase H+ transporting V1 subunit Dprovided by HGNC
Primary source
HGNC:HGNC:13527
See related
Ensembl:ENSG00000100554 MIM:609398
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VATD; VMA8; ATP6M
Summary
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the V1 domain D subunit protein. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in adrenal (RPKM 49.7), brain (RPKM 46.5) and 25 other tissues See more
Orthologs

Genomic context

See ATP6V1D in Genome Data Viewer
Location:
14q23.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (67337872..67359804, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (67804581..67826720, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene gephyrin Neighboring gene splicing factor 3b, subunit 4 pseudogene 1 Neighboring gene family with sequence similarity 71 member D Neighboring gene membrane palmitoylated protein 5 Neighboring gene eukaryotic translation initiation factor 2 subunit alpha Neighboring gene pleckstrin 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
proton-transporting ATPase activity, rotational mechanism IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
insulin receptor signaling pathway TAS
Traceable Author Statement
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
phagosome acidification TAS
Traceable Author Statement
more info
 
protein localization to cilium IMP
Inferred from Mutant Phenotype
more info
PubMed 
proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of macroautophagy NAS
Non-traceable Author Statement
more info
PubMed 
transferrin transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with centrosome IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with cilium IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
lysosomal membrane HDA PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
proton-transporting V-type ATPase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proton-transporting V-type ATPase complex IDA
Inferred from Direct Assay
more info
PubMed 
specific granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
V-type proton ATPase subunit D
Names
ATPase, H+ transporting lysosomal, member M
ATPase, H+ transporting, lysosomal (vacuolar proton pump)
ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D
H(+)-transporting two-sector ATPase, subunit M
V-ATPase 28 kDa accessory protein
V-ATPase D subunit
V-ATPase subunit D
vacuolar ATP synthase subunit D
vacuolar H-ATPase subunit D
vacuolar proton pump D subunit
vacuolar proton pump delta polypeptide
vacuolar proton pump subunit D
vacuolar proton-ATPase subunit D
NP_057078.1

NCBI Reference Sequences (RefSeq)

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)

  1. NM_015994.4NP_057078.1  V-type proton ATPase subunit D

    See identical proteins and their annotated locations for NP_057078.1

    Status: REVIEWED

    Source sequence(s)
    AL139785, BC001411, BU726615, DB039102
    Consensus CDS
    CCDS9780.1
    UniProtKB/Swiss-Prot
    Q9Y5K8
    UniProtKB/TrEMBL
    A0A024R683
    Related
    ENSP00000216442.7, ENST00000216442.12
    Conserved Domains (1) summary
    pfam01813
    Location:15207
    ATP-synt_D; ATP synthase subunit D

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    67337872..67359804 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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