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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
Icon
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 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_homo_sapiens_GENE:ENSG00000171155.8 C1GALT1C1
ENSEMBL_homo_sapiens_GENE: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
RefSeq:NM_152692.4 C1GALT1C1
RefSeq:NM_001011551.2 C1GALT1C1
Other Identifiers
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:0003824
GO:0005515
GO:0005576
GO:0005615
GO:0005794
GO:0006486
GO:0006493
GO:0016020
GO:0016263
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
68
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_689905.1
,
NP_001011551.1
OpenTargets
ENSG00000171155
HPA
ENSG00000171155-C1GALT1C1
GeneCards
Q96EU7
Ensembl
ENSG00000171155
,
ENST00000673177
,
ENST00000304661
,
ENST00000371313
,
ENSP00000500561
,
ENSP00000304364
,
ENSP00000360363
,
ENSG00000288368
,
ENST00000673568
,
ENSP00000500356
PRO
Q96EU7
Pharos - Targets
Q96EU7
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