Gene: MCOLN1 ENSG00000090674

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

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000264079.6	MCOLN1-001	2082	580aa	ENSP00000264079.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12180	B4DFZ1 Q9GZU1	NM_020533.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000601003.1	MCOLN1-006	666	200aa	ENSP00000469074.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		M0QXD0	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000599334.1	MCOLN1-009	666	182aa	ENSP00000472176.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000394321.5	MCOLN1-002	2253	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000596390.1	MCOLN1-003	1178	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000596008.1	MCOLN1-005	772	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000595860.1	MCOLN1-007	758	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000598406.1	MCOLN1-004	644	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000602227.1	MCOLN1-010	492	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000594692.1	MCOLN1-008	470	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Gene: MCOLN1 ENSG00000090674

Summary