Reactome | C1GALT1C1 R68* [Golgi membrane]

C1GALT1C1 R68* [Golgi membrane]

Stable Identifier

R-HSA-6785530

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

Golgi membrane

Synonyms

COSMC, C1GALT1-specific chaperone 1, C1GLC_HUMAN

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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 TNPS (Homo sapiens)
        
        Defective C1GALT1C1 does not bind C1GALT1 (Homo sapiens)
        
        C1GALT1:C1GALT1C1 mutants [Golgi membrane] (Homo sapiens)
        
        C1GALT1C1 mutants [Golgi membrane] (Homo sapiens)
        
        C1GALT1C1 R68* [Golgi membrane] (Homo sapiens)

External Reference Information

External Reference

UniProt:Q96EU7 C1GALT1C1

Gene Names

C1GALT1C1, COSMC, HSPC067, MSTP143, UNQ273/PRO310

Chain

chain:1-318

Reference Genes

BioGPS Gene:29071 C1GALT1C1

COSMIC (genes):C1GALT1C1 C1GALT1C1

CTD Gene:29071 C1GALT1C1

dbSNP Gene:29071 C1GALT1C1

ENSEMBL:ENSG00000171155 C1GALT1C1

ENSEMBL:ENSG00000171155.8 C1GALT1C1

ENSEMBL:ENSG00000288368.1 C1GALT1C1

HGNC:24338 C1GALT1C1

KEGG Gene (Homo sapiens):29071 C1GALT1C1

Monarch:29071 C1GALT1C1

NCBI Gene:29071 C1GALT1C1

OMIM:300611 C1GALT1C1

UCSC:Q96EU7 C1GALT1C1

Reference Transcript

Other Identifiers

0006020692

11726618_a_at

11726619_s_at

11743934_a_at

17113774

219283_PM_at

219283_at

29071

4019977

4019978

4019979

4019980

4019981

4019982

4019983

4019984

4019989

4019990

64447_at

8174820

A_23_P159839

GE61283

GO:0000139

GO:0005515

GO:0005576

GO:0005615

GO:0005622

GO:0005737

GO:0005794

GO:0006486

GO:0006493

GO:0016020

GO:0016021

GO:0016263

GO:0016267

GO:0016740

GO:0030154

GO:0030168

GO:0036211

GO:0036344

GO:0042060

GO:0043226

GO:0048856

GO:0070062

GO:0140096

GO:1901135

HMNXSV003036063

ILMN_1751234

ILMN_1753903

ILMN_2401730

PH_hs_0022529

TC0X001327.hg

g7661771_3p_at

Participates

as a member of

C1GALT1C1 mutants [Golgi membrane] (Homo sapiens)

Other forms of this molecule

C1GALT1C1 E152K [Golgi membrane]

C1GALT1C1 M1I [Golgi membrane]

C1GALT1C1 D131E [Golgi membrane]

C1GALT1C1 S193P [Golgi membrane]

C1GALT1C1 [Golgi membrane]

Modified Residues

Name

Nonsense mutation at L-arginine 68

Coordinate

PsiMod

L-arginine removal [MOD:01632]

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

Disease

Name	Identifier	Synonyms
carcinoma	DOID:305	epithelioma, malignant Epithelioma

Cross References

RefSeq

NP_001011551.1, NP_689905.1

OpenTargets

ENSG00000171155

HPA

ENSG00000171155-C1GALT1C1

GeneCards

Q96EU7

Ensembl

ENST00000371313, ENSP00000500561, ENSP00000304364, ENSP00000360363, ENST00000304661, ENST00000673177, ENSP00000500356, ENSG00000288368, ENST00000673568, ENSG00000171155

PRO

Q96EU7

Pharos - Targets

Q96EU7

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