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ATP6V1C2 ATPase H+ transporting V1 subunit C2 [ Homo sapiens (human) ]

Gene ID: 245973, updated on 13-Mar-2020

Summary

Official Symbol
ATP6V1C2provided by HGNC
Official Full Name
ATPase H+ transporting V1 subunit C2provided by HGNC
Primary source
HGNC:HGNC:18264
See related
Ensembl:ENSG00000143882 MIM:618070
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
VMA5; ATP6C2
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,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 47.0), skin (RPKM 40.5) and 25 other tissues See more
Orthologs

Genomic context

See ATP6V1C2 in Genome Data Viewer
Location:
2p25.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (10720973..10785110)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (10861775..10925236)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene nucleolar protein 10 Neighboring gene RNA, 7SL, cytoplasmic 832, pseudogene Neighboring gene RNA, U7 small nuclear 138 pseudogene Neighboring gene uncharacterized LOC105373428 Neighboring gene protein disulfide isomerase family A member 6 Neighboring gene RNA, U7 small nuclear 176 pseudogene Neighboring gene long intergenic non-protein coding RNA 1954

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

Phenotypes

NHGRI GWAS Catalog

Description
Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical 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 
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
 
positive regulation of Wnt signaling pathway 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
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
lysosomal membrane HDA 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 2
Names
ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2
V-ATPase C2 subunit
vacuolar proton pump subunit C 2
NP_001034451.1
NP_653184.2
XP_011508641.1
XP_011508642.1
XP_011508643.1
XP_016859234.1

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.

Genomic

  1. NG_050575.1 RefSeqGene

    Range
    5657..69137
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001039362.2NP_001034451.1  V-type proton ATPase subunit C 2 isoform a

    See identical proteins and their annotated locations for NP_001034451.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC092687, AY039759, BC012142, BX358022, DB230703
    Consensus CDS
    CCDS42653.1
    UniProtKB/Swiss-Prot
    Q8NEY4
    Related
    ENSP00000272238.4, ENST00000272238.9
    Conserved Domains (2) summary
    cd14785
    Location:5575
    V-ATPase_C; 3-helical coiled coil [structural motif]
    pfam03223
    Location:5417
    V-ATPase_C; V-ATPase subunit C
  2. NM_144583.4NP_653184.2  V-type proton ATPase subunit C 2 isoform b

    See identical proteins and their annotated locations for NP_653184.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
    Source sequence(s)
    AC092687, AY039759, BC012142, BX358022, DB230703
    Consensus CDS
    CCDS1674.1
    UniProtKB/Swiss-Prot
    Q8NEY4
    Related
    ENSP00000371077.3, ENST00000381661.3
    Conserved Domains (2) summary
    cd14785
    Location:5575
    V-ATPase_C; 3-helical coiled coil [structural motif]
    pfam03223
    Location:5371
    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_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    10720973..10785110
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003745.2XP_016859234.1  V-type proton ATPase subunit C 2 isoform X2

    UniProtKB/Swiss-Prot
    Q8NEY4
    Related
    ENSP00000497038.1, ENST00000648362.1
    Conserved Domains (2) summary
    cd14785
    Location:5575
    V-ATPase_C; 3-helical coiled coil [structural motif]
    pfam03223
    Location:5417
    V-ATPase_C; V-ATPase subunit C
  2. XM_011510339.3XP_011508641.1  V-type proton ATPase subunit C 2 isoform X1

    See identical proteins and their annotated locations for XP_011508641.1

    UniProtKB/TrEMBL
    A0A0U1RR16
    Related
    ENSP00000489280.1, ENST00000635370.1
    Conserved Domains (2) summary
    cd14785
    Location:5575
    V-ATPase_C; 3-helical coiled coil [structural motif]
    pfam03223
    Location:5427
    V-ATPase_C; V-ATPase subunit C
  3. XM_011510340.3XP_011508642.1  V-type proton ATPase subunit C 2 isoform X3

    See identical proteins and their annotated locations for XP_011508642.1

    Conserved Domains (2) summary
    cd14785
    Location:5575
    V-ATPase_C; 3-helical coiled coil [structural motif]
    pfam03223
    Location:5381
    V-ATPase_C; V-ATPase subunit C
  4. XM_011510341.2XP_011508643.1  V-type proton ATPase subunit C 2 isoform X4

    Conserved Domains (2) summary
    cd14785
    Location:5575
    V-ATPase_C; 3-helical coiled coil [structural motif]
    pfam03223
    Location:5222
    V-ATPase_C; V-ATPase subunit C

RNA

  1. XR_922658.3 RNA Sequence

  2. XR_922662.3 RNA Sequence

  3. XR_922657.3 RNA Sequence

  4. XR_922661.1 RNA Sequence

  5. XR_922663.3 RNA Sequence

  6. XR_922664.3 RNA Sequence

  7. XR_002959251.1 RNA Sequence

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