Reactome | MCOLN1 [endosome membrane]

MCOLN1 [endosome membrane]

Stable Identifier

R-HSA-917803

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endosome membrane

Synonyms

Mucolipin-1

Locations in the PathwayBrowser

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External Reference Information

External Reference

UniProt:Q9GZU1 MCOLN1

Gene Names

MCOLN1, ML4, TRPML1, MSTP080

Chain

chain:1-580

Reference Genes

BioGPS Gene:57192 MCOLN1

COSMIC (genes):MCOLN1 MCOLN1

CTD Gene:57192 MCOLN1

dbSNP Gene:57192 MCOLN1

ENSEMBL:ENSG00000090674 MCOLN1

ENSEMBL_homo_sapiens_GENE:ENSG00000090674.16 MCOLN1

HGNC:13356 MCOLN1

KEGG Gene (Homo sapiens):57192 MCOLN1

Monarch:57192 MCOLN1

NCBI Gene:57192 MCOLN1

OMIM:605248 MCOLN1

UCSC:Q9GZU1 MCOLN1

Reference Transcript

RefSeq:NM_020533.2 MCOLN1

Other Identifiers

11718554_a_at

11748969_a_at

16857612

219952_PM_s_at

219952_s_at

3818861

3818862

3818864

3818866

3818867

3818869

3818874

3818876

3818878

3818880

3818882

3818885

3818886

3818887

3818890

3818892

3818893

3818894

3818896

3818898

57192

63374_at

8025183

A_23_P27571

GE80875

GO:0001891

GO:0002250

GO:0002376

GO:0005215

GO:0005261

GO:0005262

GO:0005381

GO:0005515

GO:0005634

GO:0005654

GO:0005764

GO:0005765

GO:0005768

GO:0005770

GO:0005773

GO:0005794

GO:0005886

GO:0006811

GO:0006812

GO:0006816

GO:0006914

GO:0007040

GO:0008289

GO:0010008

GO:0016020

GO:0019722

GO:0023052

GO:0030659

GO:0030670

GO:0031410

GO:0031902

GO:0033572

GO:0034220

GO:0034755

GO:0042802

GO:0042995

GO:0043226

GO:0043231

GO:0043235

GO:0051179

GO:0051209

GO:0051289

GO:0055065

GO:0055085

GO:0065003

GO:0070588

GO:0071277

GO:0071467

GO:0072345

GO:0090382

GO:0097352

GO:0097682

GO:0098655

GO:0099604

GO:1901660

GO:1905673

HMNXSV003054758

ILMN_1764383

TC19000128.hg

g10092596_3p_s_at

Other forms of this molecule

MCOLN1 [plasma membrane]

Inferred To

cup-5 [endosome membrane] (Caenorhabditis elegans)

Mcoln1 [endosome membrane] (Mus musculus)

Mcoln1 [endosome membrane] (Rattus norvegicus)

Trpml [endosome membrane] (Drosophila melanogaster)

mcoln1b [endosome membrane] (Danio rerio)

MCOLN1 [endosome membrane] (Bos taurus)

MCOLN1 [endosome membrane] (Canis familiaris)

MCOLN1 [endosome membrane] (Dictyostelium discoideum)

MCOLN1 [endosome membrane] (Gallus gallus)

MCOLN1 [endosome membrane] (Sus scrofa)

mcoln1 [endosome membrane] (Xenopus tropicalis)

Cross References

RefSeq

NP_065394.1

Guide to Pharmacology - Targets

501

OpenTargets

ENSG00000090674

HPA

ENSG00000090674-MCOLN1

GeneCards

Q9GZU1

Ensembl

ENSP00000264079, ENST00000264079, ENSG00000090674

PRO

Q9GZU1

Pharos - Targets

Q9GZU1

Orphanet

16386

PDB

6E7P, 5TJC, 5WJ9, 5TJA, 7MGL, 6E7Y, 5WJ5, 6E7Z, 5TJB

Interactors (7)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q9GZU1 MCOLN1	2	MCOLN1 [plasma membrane] (R-HSA-3211764) MCOLN1 [endosome membrane] (R-HSA-917803)	0.606	3
UniProt:Q96IW7 SEC22A	3	SEC22A [endoplasmic reticulum membrane] (R-HSA-5216111) SEC22A [endoplasmic reticulum-Golgi intermediate compartment membrane] (R-HSA-5688562) SEC22A [ER to Golgi transport vesicle membrane] (R-HSA-5688560)	0.556	3
UniProt:Q92624 APBP2			0.556	3
UniProt:Q8IZK6 MCOLN2	1	MCOLN2 [plasma membrane] (R-HSA-3211766)	0.527	2
UniProt:Q8TDD5 MCOLN3	1	MCOLN3 [plasma membrane] (R-HSA-3211773)	0.527	3
UniProt:Q8N6G5 CSGALNACT2	1	CSGALNACT2 [Golgi membrane] (R-HSA-1971506)	0.527	2
UniProt:P0DTC3 3a	9	O-glycosyl 3a [virion membrane] (R-COV-9694395) O-glycosyl 3a [endocytic vesicle membrane] (R-COV-9694729) O-glycosyl 3a [endoplasmic reticulum-Golgi intermediate compartment membrane] (R-COV-9694386) GalNAc-O-3a [endoplasmic reticulum-Golgi intermediate compartment] (R-COV-9694658) 3a [endoplasmic reticulum-Golgi intermediate compartment] (R-COV-9694716) 3a [endoplasmic reticulum lumen] (R-COV-9694584) O-glycosyl 3a [endolysosome membrane] (R-COV-9754541) O-glycosyl 3a [plasma membrane] (R-COV-9694433) O-glycosyl 3a [extracellular region] (R-COV-9694387)	0.463	2

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