UniProt:Q96EU7 C1GALT1C1

chain
  • chain:1-318
checksum 5D766966A872CA84
comment
  • 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).SUBUNIT Associates with core 1 beta-3-galactosyltransferase (C1GALT1), probably not with the soluble active form.INTERACTION 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.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.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.SIMILARITY Belongs to the glycosyltransferase 31 family. Beta3-Gal-T subfamily.CAUTION Was originally (PubMed:12361956) assigned to be a glycosyltransferase. However, it was later shown (Ref.2 and PubMed:12464682) that it has no transferase activity and rather acts as a chaperone.SEQUENCE CAUTION Truncated N-terminus.ONLINE INFORMATION C1GALT1-specific chaperone 1
created [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
crossReference
databaseName UniProt
dbId 220524
description
  • recommendedName: C1GALT1-specific chaperone 1 alternativeName: C38H2-like protein 1 shortName: C38H2-L1 alternativeName: Core 1 beta1,3-galactosyltransferase 2 shortName: C1Gal-T2 shortName: C1GalT2 shortName: Core 1 beta3-Gal-T2 alternativeName: Core 1 beta3-galactosyltransferase-specific molecular chaperone
displayName UniProt:Q96EU7 C1GALT1C1
geneName
  • C1GALT1C1
  • COSMC
  • HSPC067
  • MSTP143
  • UNQ273/PRO310
identifier Q96EU7
isSequenceChanged false
keyword
  • Chaperone
  • Disease variant
  • Hemolytic uremic syndrome
  • Membrane
  • Proteomics identification
  • Reference proteome
  • Signal-anchor
  • Transmembrane
  • Transmembrane helix
modified [InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType Protein
name
  • C1GALT1C1
otherIdentifier
  • 11726618_a_at
  • 11726619_s_at
  • 11743934_a_at
  • 17113774
  • 219283_PM_at
  • 219283_at
  • 29071
  • 4019977
  • 4019978
  • 4019979
  • 4019980
  • 4019981
  • 4019982
  • 4019983
  • 4019984
  • 4019985
  • 4019986
  • 4019987
  • 4019988
  • 4019989
  • 4019990
  • 4019991
  • 64447_at
  • 8174820
  • A_23_P159839
  • GE61283
  • GO:0000139
  • GO:0005515
  • GO:0006486
  • GO:0006493
  • GO:0016020
  • GO:0030168
  • GO:0036344
  • GO:0070062
  • HMNXSV003036063
  • ILMN_1751234
  • ILMN_1753903
  • ILMN_2401730
  • PH_hs_0022529
  • TC0X001327.hg
  • g7661771_3p_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • C1GLC_HUMAN
  • A8K246
  • Q8WWS3
  • Q9NZX1
sequenceLength 318
species [Species:48887] Homo sapiens
stId uniprot:Q96EU7
url http://purl.uniprot.org/uniprot/Q96EU7
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