Reactome | C1GALT1 [Golgi membrane]

C1GALT1 [Golgi membrane]

Stable Identifier

R-HSA-1964509

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

Golgi membrane

Synonyms

Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1, C1GLT_HUMAN

Locations in the PathwayBrowser

Expand all

Disease (Homo sapiens)

- Diseases of metabolism (Homo sapiens)
  - Diseases of glycosylation (Homo sapiens)
    - Diseases associated with O-glycosylation of proteins (Homo sapiens)
      - Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) (Homo sapiens)
        
        Defective C1GALT1C1 does not bind C1GALT1 (Homo sapiens)
        
        C1GALT1:C1GALT1C1 mutants [Golgi membrane] (Homo sapiens)
        
        C1GALT1 [Golgi membrane] (Homo sapiens)

External Reference Information

External Reference

UniProt:Q9NS00 C1GALT1

Gene Names

C1GALT1

Chain

chain:1-363

Reference Genes

BioGPS Gene:56913 C1GALT1

COSMIC (genes):C1GALT1 C1GALT1

CTD Gene:56913 C1GALT1

dbSNP Gene:56913 C1GALT1

ENSEMBL:ENSG00000106392 C1GALT1

HGNC:24337 C1GALT1

KEGG Gene (Homo sapiens):56913 C1GALT1

Monarch:56913 C1GALT1

NCBI Gene:56913 C1GALT1

OMIM:610555 C1GALT1

UCSC:Q9NS00 C1GALT1

Reference Transcript

Other Identifiers

0004060152

0102630471

11758562_s_at

17043529

219439_at

226105_at

226107_at

2810138

2989426

2989427

2989428

2989441

2989442

2989443

2989444

2989445

2989446

2989447

2989448

2989449

2989450

45624_at

47956_at

56913

59146_s_at

8131475

A_14_P111605

A_19_P00805702

A_23_P252145

A_24_P911259

A_33_P3251227

GE61759

GE85242

GE88316

GO:0000139

GO:0001525

GO:0001822

GO:0003674

GO:0005515

GO:0005575

GO:0005622

GO:0005737

GO:0005794

GO:0006464

GO:0006486

GO:0006493

GO:0007275

GO:0008150

GO:0009058

GO:0016020

GO:0016021

GO:0016263

GO:0016266

GO:0016267

GO:0016740

GO:0016757

GO:0030154

GO:0043167

GO:0043226

GO:0046872

GO:0048646

GO:0048856

GO:0060576

Hs.239666.0.S1_3p_at

Hs.239666.0.S2_3p_at

ILMN_1662578

PH_hs_0028016

PH_hs_0039108

TC07002132.hg

g9910143_3p_at

Participant Of

hasComponent

Inferred To

si:dkey-202e17.1 [Golgi membrane] (Danio rerio)

CG13904 [Golgi membrane] (Drosophila melanogaster)

CG33999 [Golgi membrane] (Drosophila melanogaster)

Dmel\CG34451 [Golgi membrane] (Drosophila melanogaster)

C1galt1 [Golgi membrane] (Mus musculus)

C1galt1 [Golgi membrane] (Rattus norvegicus)

bus-4 [Golgi membrane] (Caenorhabditis elegans)

Dmel\CG2975 [Golgi membrane] (Drosophila melanogaster)

Dmel\CG2983 [Golgi membrane] (Drosophila melanogaster)

C1GALT1 [Golgi membrane] (Bos taurus)

C1GALT1 [Golgi membrane] (Caenorhabditis elegans)

C1GALT1 [Golgi membrane] (Canis familiaris)

C1GALT1 [Golgi membrane] (Gallus gallus)

C1GALT1 [Golgi membrane] (Sus scrofa)

Homologues of C1GALT1 [Golgi membrane] (Caenorhabditis elegans)

Homologues of C1GALT1 [Golgi membrane] (Drosophila melanogaster)

dC1GalT7 [Golgi membrane] (Drosophila melanogaster)

tgy [Golgi membrane] (Drosophila melanogaster)

C1GalTA [Golgi membrane] (Drosophila melanogaster)

Dmel\CG8708 [Golgi membrane] (Drosophila melanogaster)

dC1GalT6 [Golgi membrane] (Drosophila melanogaster)

Dmel\CG18558 [Golgi membrane] (Drosophila melanogaster)

c1galt1 [Golgi membrane] (Xenopus tropicalis)

Cross References

RefSeq

NP_064541.1, XP_016867935.1, XP_016867931.1, XP_016867937.1, XP_016867933.1, XP_011513755.1, XP_011513758.1, XP_011513757.1, XP_016867934.1, XP_016867936.1, XP_016867932.1

OpenTargets

ENSG00000106392

GeneCards

Q9NS00

HPA

ENSG00000106392-C1GALT1

Ensembl

ENSP00000223122, ENST00000436587, ENSP00000384550, ENSP00000389176, ENST00000402468, ENST00000223122, ENSG00000106392

PRO

Q9NS00

HMDB Protein

HMDBP06975

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