Description
ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A [Source:HGNC Symbol;Acc:851]
Gene Synonyms
ATP6A1, ATP6V1A1, HO68, VA68, VPP2, Vma1
Location
Chromosome 3: 113,465,866-113,530,903 forward strand.
GRCh37:CM000665.1
About this gene
This gene has 7 transcripts (splice variants) and is associated with 6 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000273398.3 | ATP6V1A-001 | 4591 | 617aa | ENSP00000273398.3 | Protein coding | CCDS2976 | B7Z1R5 B7Z2V6 C9JA17 C9JVW8 P38606 | NM_001690.3 | GENCODE basic, |
ENST00000538620.1 | ATP6V1A-201 | 2266 | 584aa | ENSP00000439874.1 | Protein coding | B7Z1R5 B7Z2V6 C9JA17 | - | GENCODE basic, | |
ENST00000475322.1 | ATP6V1A-005 | 754 | 221aa | ENSP00000419294.1 | Protein coding | C9JA17 C9JVW8 | - | CDS 3' incomplete, | |
ENST00000496747.1 | ATP6V1A-006 | 710 | 184aa | ENSP00000417545.1 | Protein coding | C9JA17 | - | CDS 3' incomplete, | |
ENST00000470455.1 | ATP6V1A-002 | 2266 | 49aa | ENSP00000420146.1 | Nonsense mediated decay | F8WDJ3 | - | - | |
ENST00000461496.1 | ATP6V1A-007 | 542 | No protein | - | Processed transcript | - | - | - | |
ENST00000462855.1 | ATP6V1A-004 | 509 | No protein | - | Retained intron | - | - | - |