Reactome | LARGE W495R [Golgi membrane]

LARGE W495R [Golgi membrane]

Stable Identifier

R-HSA-6785683

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

Golgi membrane

Synonyms

Glycosyltransferase-like protein LARGE1 ecNumber2.4.-.-/ecNumber, LARGE_HUMAN

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External Reference Information

External Reference

UniProt:O95461 LARGE1

Gene Names

LARGE1, KIAA0609, LARGE

Chain

chain:1-756

Reference Genes

BioGPS Gene:9215 LARGE1

COSMIC (genes):LARGE1 LARGE1

CTD Gene:9215 LARGE1

dbSNP Gene:9215 LARGE1

ENSEMBL:ENSG00000133424.22 LARGE1

HGNC:6511 LARGE1

KEGG Gene (Homo sapiens):9215 LARGE1

Monarch:9215 LARGE1

NCBI Gene:9215 LARGE1

OMIM:603590 LARGE1

UCSC:O95461 LARGE1

Reference Transcript

Other Identifiers

0002320750

0005690373

0103170280

11719245_a_at

11749690_a_at

16934308

204414_PM_at

204414_at

215543_PM_s_at

215543_s_at

3958659

3958660

3958661

3958662

3958665

3958666

3958672

3958673

3958678

3958696

3958697

3958712

3958742

3958750

3958753

3958757

3958775

3958776

3958790

3958806

3958807

3958810

3958811

3958821

41346_at

8075637

9215

A_23_P91697

GE55179

GE904762

GO:0000139

GO:0003824

GO:0005622

GO:0005737

GO:0005794

GO:0006044

GO:0006486

GO:0006493

GO:0006629

GO:0006688

GO:0008152

GO:0008375

GO:0009101

GO:0015020

GO:0016020

GO:0016021

GO:0016740

GO:0016757

GO:0016758

GO:0030145

GO:0030173

GO:0035252

GO:0035269

GO:0036211

GO:0042285

GO:0043226

GO:0043231

GO:0043403

GO:0046716

GO:0046872

GO:0048856

GO:0060538

GO:1901135

HMNXSV003055247

HMNXSV003055661

Hs.25220.1.S1_3p_a_at

ILMN_1662038

ILMN_1803412

ILMN_2408430

PH_hs_0002216

Participates

as a member of

LARGE mutants [Golgi membrane] (Homo sapiens)

Other forms of this molecule

LARGE S331F [Golgi membrane]

LARGE E509K [Golgi membrane]

LARGE E669Gfs*26 [Golgi membrane]

LARGE [Golgi membrane]

Modified Residues

Name

L-tryptophan 495 replaced with L-arginine

Coordinate

495

PsiMod

L-arginine residue [MOD:00011]

A protein modification that effectively converts a source amino acid residue to an L-arginine.

L-tryptophan removal [MOD:01648]

A protein modification that effectively removes or replaces an L-tryptophan.

Disease

Name	Identifier	Synonyms
congenital muscular dystrophy	DOID:0050557

Cross References

RefSeq

NP_004728.1, NP_598397.1, XP_005261888.1, XP_005261889.1, XP_011528812.1

OpenTargets

ENSG00000133424

GeneCards

O95461

HPA

ENSG00000133424-LARGE1

Ensembl

ENSP00000502826, ENST00000397394, ENSP00000415546, ENST00000402320, ENSP00000347088, ENSP00000502152, ENST00000676132, ENST00000413114, ENST00000676070, ENSP00000380549, ENST00000354992, ENST00000676370, ENSP00000385223, ENSG00000133424, ENST00000675416, ENSP00000502238, ENSP00000501854

PRO

O95461

Pharos - Targets

O95461

Orphanet

16338

Interactors (1)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q6VN20 RANBP10	1	RANBP10 [cytosol] (R-HSA-8851865)	0.508	2