Description
mucolipin 1 [Source:HGNC Symbol;Acc:13356]
Gene Synonyms
MG-2, ML4, MLIV, MST080, MSTP080, TRP-ML1, TRPM-L1, TRPML1
Location
Chromosome 19: 7,587,512-7,598,895 forward strand.
GRCh37:CM000681.1
About this gene
This gene has 10 transcripts (splice variants), 2 paralogues and is associated with 4 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000264079.6 | MCOLN1-001 | 2082 | 580aa | ENSP00000264079.5 | Protein coding | CCDS12180 | B4DFZ1 Q9GZU1 | NM_020533.2 | Ensembl Canonical, GENCODE basic, |
ENST00000601003.1 | MCOLN1-006 | 666 | 200aa | ENSP00000469074.1 | Protein coding | M0QXD0 | - | CDS 3' incomplete, | |
ENST00000599334.1 | MCOLN1-009 | 666 | 182aa | ENSP00000472176.1 | Protein coding | - | - | CDS 5' incomplete, | |
ENST00000394321.5 | MCOLN1-002 | 2253 | No protein | - | Retained intron | - | - | - | |
ENST00000596390.1 | MCOLN1-003 | 1178 | No protein | - | Retained intron | - | - | - | |
ENST00000596008.1 | MCOLN1-005 | 772 | No protein | - | Retained intron | - | - | - | |
ENST00000595860.1 | MCOLN1-007 | 758 | No protein | - | Retained intron | - | - | - | |
ENST00000598406.1 | MCOLN1-004 | 644 | No protein | - | Retained intron | - | - | - | |
ENST00000602227.1 | MCOLN1-010 | 492 | No protein | - | Retained intron | - | - | - | |
ENST00000594692.1 | MCOLN1-008 | 470 | No protein | - | Retained intron | - | - | - |