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ATP6V1C1 ATPase H+ transporting V1 subunit C1 [ Homo sapiens (human) ]

Gene ID: 528, updated on 13-Mar-2020

Summary

Official Symbol
ATP6V1C1provided by HGNC
Official Full Name
ATPase H+ transporting V1 subunit C1provided by HGNC
Primary source
HGNC:HGNC:856
See related
Ensembl:ENSG00000155097 MIM:603097
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
VATC; Vma5; ATP6C; ATP6D
Summary
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent 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 is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in brain (RPKM 32.3), thyroid (RPKM 16.6) and 24 other tissues See more
Orthologs

Genomic context

See ATP6V1C1 in Genome Data Viewer
Location:
8q22.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (103021083..103073051)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (104033248..104085285)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene macrophage interferon regulatory lncRNA Neighboring gene ribosomal protein L5 pseudogene 24 Neighboring gene nucleophosmin 1 pseudogene 52 Neighboring gene MT-ND2 pseudogene 10 Neighboring gene MT-ND1 pseudogene 5

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

Clone Names

  • FLJ20057

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
proton-exporting ATPase activity, phosphorylative mechanism IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proton-transporting ATPase activity, rotational mechanism IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transporter activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
insulin receptor signaling pathway TAS
Traceable Author Statement
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
phagosome acidification TAS
Traceable Author Statement
more info
 
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
apical part of cell IEA
Inferred from Electronic Annotation
more info
 
cell IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
lysosomal membrane HDA PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
proton-transporting two-sector ATPase complex TAS
Traceable Author Statement
more info
PubMed 
vacuolar proton-transporting V-type ATPase, V1 domain IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
V-type proton ATPase subunit C 1
Names
ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1
H(+)-transporting two-sector ATPase, subunit C
H+ -ATPase C subunit
H+-transporting ATPase chain C, vacuolar
V-ATPase C subunit
V-ATPase subunit C 1
subunit C of vacuolar proton-ATPase V1 domain
testicular tissue protein Li 223
vacuolar ATP synthase subunit C
vacuolar proton pump C subunit
vacuolar proton pump subunit C 1
vacuolar proton pump, 42-kD subunit
vacuolar proton-ATPase, subunit C, VI domain
NP_001686.1

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_001695.5NP_001686.1  V-type proton ATPase subunit C 1

    See identical proteins and their annotated locations for NP_001686.1

    Status: REVIEWED

    Source sequence(s)
    AP003550, X69151
    Consensus CDS
    CCDS6296.1
    UniProtKB/Swiss-Prot
    P21283
    UniProtKB/TrEMBL
    A0A024R9I0
    Related
    ENSP00000430282.1, ENST00000518738.2
    Conserved Domains (2) summary
    cd14785
    Location:5676
    V-ATPase_C; 3-helical coiled coil [structural motif]
    pfam03223
    Location:5370
    V-ATPase_C; V-ATPase subunit C

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    103021083..103073051
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001007254.1: Suppressed sequence

    Description
    NM_001007254.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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