Q96EU7 · C1GLC_HUMAN
- ProteinC1GALT1-specific chaperone 1
- GeneC1GALT1C1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids318 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
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).
Miscellaneous
Defects in C1GALT1C1 in Ag104A cell line create a tumor-specific glycopeptidic neo-epitope. This epitope induces a high-affinity, highly specific, syngeneic monoclonal antibody. This is caused by the abolition of function of a glycosyltransferase, disrupting O-glycan Core 1 synthesis.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Aspect | Term | |
---|---|---|
Cellular Component | extracellular exosome | |
Cellular Component | Golgi membrane | |
Molecular Function | glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity | |
Biological Process | platelet activation | |
Biological Process | platelet morphogenesis | |
Biological Process | protein O-linked glycosylation |
Keywords
- Molecular function
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameC1GALT1-specific chaperone 1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ96EU7
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Membrane ; Single-pass type II membrane protein
Features
Showing features for topological domain, transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Topological domain | 1-6 | Cytoplasmic | ||||
Sequence: MLSESS | ||||||
Transmembrane | 7-26 | Helical; Signal-anchor for type II membrane protein | ||||
Sequence: SFLKGVMLGSIFCALITMLG | ||||||
Topological domain | 27-318 | Lumenal | ||||
Sequence: HIRIGHGNRMHHHEHHHLQAPNKEDILKISEDERMELSKSFRVYCIILVKPKDVSLWAAVKETWTKHCDKAEFFSSENVKVFESINMDTNDMWLMMRKAYKYAFDKYRDQYNWFFLARPTTFAIIENLKYFLLKKDPSQPFYLGHTIKSGDLEYVGMEGGIVLSVESMKRLNSLLNIPEKCPEQGGMIWKISEDKQLAVCLKYAGVFAENAEDADGKDVFNTKSVGLSIKEAMTYHPNQVVEGCCSDMAVTFNGLTPNQMHVMMYGVYRLRAFGHIFNDALVFLPPNGSDND |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Tn polyagglutination syndrome (TNPS)
- Note
- DescriptionA clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia. However, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders.
- See alsoMIM:300622
Natural variants in TNPS
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_031911 | 152 | E>K | in TNPS; loss capacity to promote Tn synthase activity; dbSNP:rs137853599 | |
VAR_069275 | 193 | S>P | in TNPS; dbSNP:rs397514537 |
Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature (AHUS8)
- Note
- DescriptionAn X-linked, atypical form of hemolytic uremic syndrome, characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. AHUS8 patients have short stature with short limbs, in addition to acute renal dysfunction with proteinuria, thrombotic microangiopathy, anemia, thrombocytopenia, increased serum lactate dehydrogenase, and schistocytes on peripheral blood smear. More variable features include immunodeficiency with recurrent infections, developmental delay, and dysmorphic features. The age at onset of renal symptoms is variable, ranging from infancy to the early twenties. Female carriers may be mildly affected.
- See alsoMIM:301110
Natural variants in AHUS8
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_088735 | 20 | A>D | in AHUS8; likely pathogenic; decreased function in protein O-linked glycosylation; decreased protein abundance in patient lymphoblastoid cells; increased protein degradation by the proteasome-dependent pathway | |
VAR_088736 | 89 | T>I | in AHUS8; likely pathogenic |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_088735 | 20 | in AHUS8; likely pathogenic; decreased function in protein O-linked glycosylation; decreased protein abundance in patient lymphoblastoid cells; increased protein degradation by the proteasome-dependent pathway | |||
Sequence: A → D | ||||||
Natural variant | VAR_088736 | 89 | in AHUS8; likely pathogenic | |||
Sequence: T → I | ||||||
Natural variant | VAR_031910 | 131 | retains capacity to promote Tn synthase activity; dbSNP:rs17261572 | |||
Sequence: D → E | ||||||
Natural variant | VAR_069274 | 143 | in dbSNP:rs45557031 | |||
Sequence: A → V | ||||||
Natural variant | VAR_031911 | 152 | in TNPS; loss capacity to promote Tn synthase activity; dbSNP:rs137853599 | |||
Sequence: E → K | ||||||
Natural variant | VAR_069275 | 193 | in TNPS; dbSNP:rs397514537 | |||
Sequence: S → P | ||||||
Natural variant | VAR_069276 | 222 | in dbSNP:rs200973382 | |||
Sequence: Q → H |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 408 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000285074 | 1-318 | C1GALT1-specific chaperone 1 | |||
Sequence: MLSESSSFLKGVMLGSIFCALITMLGHIRIGHGNRMHHHEHHHLQAPNKEDILKISEDERMELSKSFRVYCIILVKPKDVSLWAAVKETWTKHCDKAEFFSSENVKVFESINMDTNDMWLMMRKAYKYAFDKYRDQYNWFFLARPTTFAIIENLKYFLLKKDPSQPFYLGHTIKSGDLEYVGMEGGIVLSVESMKRLNSLLNIPEKCPEQGGMIWKISEDKQLAVCLKYAGVFAENAEDADGKDVFNTKSVGLSIKEAMTYHPNQVVEGCCSDMAVTFNGLTPNQMHVMMYGVYRLRAFGHIFNDALVFLPPNGSDND |
Proteomic databases
PTM databases
Expression
Tissue specificity
Ubiquitously expressed. Abundantly expressed in salivary gland, stomach, small intestine, kidney, and testis and at intermediate levels in whole brain, cerebellum, spinal cord, thymus, spleen, trachea, lung, pancreas, ovary, and uterus.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Associates with core 1 beta-3-galactosyltransferase (C1GALT1), probably not with the soluble active form.
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q96EU7 | C1GALT1 Q9NS00 | 4 | EBI-2837343, EBI-8628584 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Sequence similarities
Belongs to the glycosyltransferase 31 family. Beta3-Gal-T subfamily.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length318
- Mass (Da)36,382
- Last updated2001-12-01 v1
- Checksum5D766966A872CA84
Sequence caution
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 76 | in Ref. 4; CAC80277 | ||||
Sequence: K → E | ||||||
Sequence conflict | 107 | in Ref. 5; AAF29039 | ||||
Sequence: V → E | ||||||
Sequence conflict | 108 | in Ref. 4; CAC80277 | ||||
Sequence: F → L |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AB084170 EMBL· GenBank· DDBJ | BAC41493.1 EMBL· GenBank· DDBJ | mRNA | ||
AY159319 EMBL· GenBank· DDBJ | AAN78129.1 EMBL· GenBank· DDBJ | mRNA | ||
AJ238398 EMBL· GenBank· DDBJ | CAC80277.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AF161552 EMBL· GenBank· DDBJ | AAF29039.1 EMBL· GenBank· DDBJ | mRNA | Frameshift | |
AF177284 EMBL· GenBank· DDBJ | AAQ13670.1 EMBL· GenBank· DDBJ | mRNA | ||
AY358642 EMBL· GenBank· DDBJ | AAQ89005.1 EMBL· GenBank· DDBJ | mRNA | ||
AC011890 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AK290111 EMBL· GenBank· DDBJ | BAF82800.1 EMBL· GenBank· DDBJ | mRNA | ||
CH471107 EMBL· GenBank· DDBJ | EAX11873.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC011930 EMBL· GenBank· DDBJ | AAH11930.1 EMBL· GenBank· DDBJ | mRNA | ||
BC050441 EMBL· GenBank· DDBJ | AAH50441.1 EMBL· GenBank· DDBJ | mRNA |