Description
charged multivesicular body protein 1A [Source:HGNC Symbol;Acc:8740]
Gene Synonyms
CHMP1, KIAA0047, PCH8, PCOLN3, PRSM1, VPS46-1, VPS46A, Vps46A
Location
Chromosome 16: 89,710,839-89,724,253 reverse strand.
GRCh37:CM000678.1
About this gene
This gene has 11 transcripts (splice variants), 1 paralogue and is associated with 4 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000397901.3 | CHMP1A-001 | 2483 | 196aa | ENSP00000380998.3 | Protein coding | CCDS45552 | F5H875 Q9HD42 | NM_002768.4 | Ensembl Canonical, GENCODE Basic, |
ENST00000253475.5 | CHMP1A-201 | 2332 | 240aa | ENSP00000253475.5 | Protein coding | A6NG32 | NM_001083314.3 | GENCODE Basic, | |
ENST00000535997.2 | CHMP1A-002 | 2295 | 132aa | ENSP00000442120.2 | Protein coding | F5H875 | - | GENCODE Basic, | |
ENST00000550102.1 | CHMP1A-011 | 803 | 187aa | ENSP00000449243.1 | Protein coding | F8VVT7 | - | GENCODE Basic, | |
ENST00000549328.1 | CHMP1A-009 | 1003 | 181aa | ENSP00000447899.1 | Nonsense mediated decay | F8VUA2 | - | - | |
ENST00000547614.1 | CHMP1A-010 | 653 | No protein | - | Processed transcript | - | - | - | |
ENST00000547687.1 | CHMP1A-004 | 2007 | No protein | - | Retained intron | - | - | - | |
ENST00000549139.1 | CHMP1A-008 | 812 | No protein | - | Retained intron | - | - | - | |
ENST00000551981.1 | CHMP1A-006 | 689 | No protein | - | Retained intron | - | - | - | |
ENST00000548650.1 | CHMP1A-007 | 566 | No protein | - | Retained intron | - | - | - | |
ENST00000550872.1 | CHMP1A-005 | 533 | No protein | - | Retained intron | - | - | - |