C1GALT1C1
entrez
29071
canonical
uniprot
Q96EU7
canonical
ensembl
ENSG00000171155
resolver
ensembl
ENSG00000288368
resolver
ensp
ENSP00000304364
resolver
ensp
ENSP00000360363
resolver
ensp
ENSP00000500356
resolver
ensp
ENSP00000500561
resolver
ensp
ENSP00000569516
resolver
ensp
ENSP00000633112
resolver
enst
ENST00000304661
resolver
enst
ENST00000371313
resolver
enst
ENST00000673177
resolver
enst
ENST00000673568
resolver
enst
ENST00000899457
resolver
enst
ENST00000963053
resolver
genesymbol
C1GALT1C1
resolver
genesymbol_syn
COSMC
resolver
hgnc
HGNC:24338
resolver
uniprot
A8K246
resolver
uniprot
Q8WWS3
resolver
uniprot
Q9NZX1
resolver
uniprot_entry
C1GLC_HUMAN
resolver
uniprot_sec
A8K246
resolver
uniprot_sec
Q8WWS3
resolver
uniprot_sec
Q9NZX1
resolver
amino_acid_sequence
MLSESSSFLKGVMLGSIFCALITMLGHIRIGHGNRMHHHEHHHLQAPNKEDILKISEDERMELSKSFRVYCIILVKPKDVSLWAAVKETWTKHCDKAEFFSSENVKVFESINMDTNDMWLMMRKAYKYAFDKYRDQYNWFFLARPTTFAIIENLKYFLLKKDPSQPFYLGHTIKSGDLEYVGMEGGIVLSVESMKRLNSLLNIPEKCPEQGGMIWKISEDKQLAVCLKYAGVFAENAEDADGKDVFNTKSVGLSIKEAMTYHPNQVVEGCCSDMAVTFNGLTPNQMHVMMYGVYRLRAFGHIFNDALVFLPPNGSDND
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:16251947, ECO:0000269|PubMed:18537974}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature (AHUS8) [MIM:301110]: An 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. {ECO:0000269|PubMed:36599939, ECO:0000269|PubMed:37216524}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
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). {ECO:0000269|PubMed:12464682, ECO:0000269|PubMed:37216524}.
uniprot
proteins
mass_dalton
36382
uniprot
proteins
protein_family
Beta3-Gal-T subfamily
uniprot
proteins
protein_family
Glycosyltransferase 31 family
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
12361956
uniprot
proteins
pubmed
12464682
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16251947
uniprot
proteins
pubmed
17038624
uniprot
proteins
pubmed
18537974
uniprot
proteins
pubmed
36599939
uniprot
proteins
pubmed
37216524
uniprot
proteins
sequence_length
318
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 7..26; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins