InnateDB Protein
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IDBP-84602.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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C1GALT1C1
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Protein Name
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C1GALT1-specific chaperone 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000360363
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InnateDB Gene
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IDBG-84600 (C1GALT1C1)
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Protein Structure
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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). {ECO:0000269PubMed:12464682}.
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Subcellular Localization |
Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
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Disease Associations |
Tn polyagglutination syndrome (TNPS) [MIM:300622]: A 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. {ECO:0000269PubMed:16251947, ECO:0000269PubMed:18537974}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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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. {ECO:0000269PubMed:12361956}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
3
[view]
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Protein-Protein |
3
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0004653
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polypeptide N-acetylgalactosaminyltransferase activity
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GO:0005515
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protein binding
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q96EU7
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PhosphoSite |
PhosphoSite-Q96EU7
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
29071
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UniGene |
Hs.713843
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RefSeq |
NP_689905
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HUGO |
HGNC:24338
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OMIM |
300611
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CCDS |
CCDS14602
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HPRD |
06462
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IMGT |
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EMBL |
AB084170
AC011890
AF161552
AF177284
AJ238398
AK290111
AY159319
AY358642
BC011930
BC050441
CH471107
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GenPept |
AAF29039
AAH11930
AAH50441
AAN78129
AAQ13670
AAQ89005
BAC41493
BAF82800
CAC80277
EAX11873
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