Tbio C1GALT1C1 C1GALT1-specific chaperone 1

Protein Summary

Description

Probable chaperone required for the generation of 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Probably acts as a specific molecular chaperone assisting the folding/stability of core 1 beta-3-galactosyltransferase (C1GALT1). This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009]

Uniprot Accession IDs

• Q96EU7
• A8K246
• Q8WWS3
• Q9NZX1

Gene Name

• C1GALT1C1

Ensembl ID

• ENST00000304661
• ENSP00000304364
• ENSG00000171155
• ENST00000371313
• ENSP00000360363

Symbol

• COSMC
• TNPS
• COSMC
• MST143
• C1GALT2
• HSPC067
• C38H2-L1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
transcription factor perturbation	0.91
histone modification site profile	0.87
kinase perturbation	0.81
disease perturbation	0.79
tissue sample	0.72

Related Tools

GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

Go To Tool

GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

Go To Tool

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 92.22   (req: < 5)

Gene RIFs: 32   (req: <= 3)

Antibodies: 70   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 92.22   (req: >= 5)

Gene RIFs: 32   (req: > 3)

Antibodies: 70   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 5

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Orthologs (13)

1 – 5 of 13

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	C1GALT1 specific chaperone 1	VGNC:1404	465837
Macaque	C1GALT1 specific chaperone 1		696662
Mouse	C1GALT1-specific chaperone 1	MGI:1913493	59048
Rat	C1GALT1-specific chaperone 1	RGD:1311230	302499
Dog	C1GALT1 specific chaperone 1	VGNC:38575	100685864

Species	Name	OMA	EggNOG	Inparanoid
Chimp	C1GALT1 specific chaperone 1
Macaque	C1GALT1 specific chaperone 1
Mouse	C1GALT1-specific chaperone 1
Rat	C1GALT1-specific chaperone 1
Dog	C1GALT1 specific chaperone 1

Protein Structure (0 Structures, 1 AlphaFold Model)

tutorial

Representation

  axes   backbone   ball+stick   cartoon   rocket   rope   spacefill

Color Scheme

  target   atomindex   bfactor   chainname   electrostatic   element   hydrophobicity   resname   sstruc

AF-Q96EU7-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (10)

Reactome (8)

KEGG (2)

Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS) (R-HSA-5083632)

Click on a row in the table to change the structure displayed.

Find Similar Targets

Items per page:

5

1 – 5 of 8

Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS)	20 targets	R-HSA-5083632
Reactome	Disease	1105 targets	R-HSA-1643685
Reactome	Diseases associated with O-glycosylation of proteins	71 targets	R-HSA-3906995
Reactome	Diseases of glycosylation	146 targets	R-HSA-3781865
Reactome	Metabolism of proteins	2050 targets	R-HSA-392499

Name	Explore in Pharos	Explore in Source
Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS)	20 targets	R-HSA-5083632
Disease	1105 targets	R-HSA-1643685
Diseases associated with O-glycosylation of proteins	71 targets	R-HSA-3906995
Diseases of glycosylation	146 targets	R-HSA-3781865
Metabolism of proteins	2050 targets	R-HSA-392499

Gene Ontology Terms (8)

Functions (1)

Components (3)

Processes (4)

Find Similar Targets

Items per page:

10

1 – 1 of 1

GO Term	Evidence	Assigned by
glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central

Protein-Protein Interactions (101)

Explore Interacting Targets

1 – 10 of 101

• See Interactions on String-DB

B3GNT2

Tbio

Family:  Enzyme

Novelty:  0.02724566

p_int:  0.997098763

p_ni:  0.002901237

Score:  0.635

Data Source:  BioPlex,STRINGDB

IL17F

Tbio

Novelty:  0.00223549

p_int:  0.994814556

p_ni:  0.005185444

Data Source:  BioPlex

SLC39A8

Tbio

Family:  Transporter

Novelty:  0.00923197

p_int:  0.984693758

p_ni:  0.015301277

p_wrong:  0.000004965

Score:  0.183

Data Source:  BioPlex,STRINGDB

TOR1A

Tbio

Novelty:  0.00056274

p_int:  0.943258637

p_ni:  0.056741357

p_wrong:  6e-9

Score:  0.23

Data Source:  BioPlex,STRINGDB

HTR3A

Tclin

Family:  IC

Novelty:  0.00217443

p_int:  0.84148308

p_ni:  0.158516916

p_wrong:  4e-9

Data Source:  BioPlex

ADPGK

Tbio

Family:  Kinase

Novelty:  0.0552414

p_int:  0.827959019

p_ni:  0.172040874

p_wrong:  1.07e-7

Score:  0.177

Data Source:  BioPlex,STRINGDB

ST3GAL4

Tbio

Family:  Enzyme

Novelty:  0.00419433

p_int:  0.781958383

p_ni:  0.218040874

p_wrong:  7.43e-7

Score:  0.605

Data Source:  BioPlex,STRINGDB

SLC39A5

Tbio

Family:  Transporter

Novelty:  0.05205571

p_int:  0.770203716

p_ni:  0.22979628

p_wrong:  3e-9

Data Source:  BioPlex

ST3GAL1

Tchem

Family:  Enzyme

Novelty:  0.01236776

Score:  0.972

Data Source:  STRINGDB

ST6GALNAC1

Tbio

Family:  Enzyme

Novelty:  0.00453853

Score:  0.969

Data Source:  STRINGDB

Publication Statistics

PubMed Score  92.22

PubMed score by year

Reset Zoom

PubTator Score  54.4

PubTator score by year

Reset Zoom

Amino Acid Sequence

Residue Counts

Protein Sequence

Show Full Sequence

ProtVista Viewer

Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
Chaperone
Complete proteome
Disease mutation
Membrane
Polymorphism
Reference proteome
Signal-anchor
Transmembrane
Transmembrane helix

MGI Phenotype Find Similar Targets

No Header	No Header
cardiovascular system phenotype
embryo phenotype
growth/size/body region phenotype
mortality/aging
nervous system phenotype