C1GALT1 | ENSG00000106392 | NCBI 56913

Details for: C1GALT1

Gene ID: 56913

Symbol: C1GALT1

Ensembl ID: ENSG00000106392

Description: core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1

Associated with

Defective c1galt1c1 causes tnps
(R-HSA-5083632)
Disease
(R-HSA-1643685)
Diseases associated with o-glycosylation of proteins
(R-HSA-3906995)
Diseases of glycosylation
(R-HSA-3781865)
Diseases of metabolism
(R-HSA-5668914)
Metabolism of proteins
(R-HSA-392499)
O-linked glycosylation
(R-HSA-5173105)
O-linked glycosylation of mucins
(R-HSA-913709)
Post-translational protein modification
(R-HSA-597592)
Angiogenesis
(GO:0001525)
Glycoprotein-n-acetylgalactosamine 3-beta-galactosyltransferase activity
(GO:0016263)
Golgi membrane
(GO:0000139)
Intestinal epithelial cell development
(GO:0060576)
Kidney development
(GO:0001822)
Membrane
(GO:0016020)
Metal ion binding
(GO:0046872)
O-glycan processing, core 1
(GO:0016267)
Protein binding
(GO:0005515)
Protein o-linked glycosylation
(GO:0006493)

Other Information

Proteins

Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1

Genular Protein ID: 2737711414

Symbol: C1GLT_HUMAN

Name: Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1

UniProtKB Accession Codes:

Q9NS00 Q96QH4 Q9BTU1

Database IDs:

Citations:

PubMed ID: 11677243

Title: Cloning and expression of human core 1 beta1,3-galactosyltransferase.

PubMed ID: 11677243

DOI: 10.1074/jbc.m109060200

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 12690205

Title: Human chromosome 7: DNA sequence and biology.

PubMed ID: 12690205

DOI: 10.1126/science.1083423

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12464682

Title: A unique molecular chaperone Cosmc required for activity of the mammalian core 1 beta 3-galactosyltransferase.

PubMed ID: 12464682

DOI: 10.1073/pnas.262438199

PubMed ID: 17228361

Title: Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy.

PubMed ID: 17228361

DOI: 10.1038/sj.ki.5002088

PubMed ID: 19357720

Title: Interaction between variants of two glycosyltransferase genes in IgA nephropathy.

PubMed ID: 19357720

DOI: 10.1038/ki.2009.99

Sequence Information:

Length: 363
Mass: 42203
Checksum: 01F472B55C5F526F
Sequence:

MASKSWLNFL TFLCGSAIGF LLCSQLFSIL LGEKVDTQPN VLHNDPHARH SDDNGQNHLE 
GQMNFNADSS QHKDENTDIA ENLYQKVRIL CWVMTGPQNL EKKAKHVKAT WAQRCNKVLF 
MSSEENKDFP AVGLKTKEGR DQLYWKTIKA FQYVHEHYLE DADWFLKADD DTYVILDNLR 
WLLSKYDPEE PIYFGRRFKP YVKQGYMSGG AGYVLSKEAL KRFVDAFKTD KCTHSSSIED 
LALGRCMEIM NVEAGDSRDT IGKETFHPFV PEHHLIKGYL PRTFWYWNYN YYPPVEGPGC 
CSDLAVSFHY VDSTTMYELE YLVYHLRPYG YLYRYQPTLP ERILKEISQA NKNEDTKVKL 
GNP

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: C1GALT1

Associated with

Other Information

Cloning and expression of human core 1 beta1,3-galactosyltransferase. PubMed ID: 11677243

The DNA sequence of human chromosome 7. PubMed ID: 12853948

Human chromosome 7: DNA sequence and biology. PubMed ID: 12690205

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

A unique molecular chaperone Cosmc required for activity of the mammalian core 1 beta 3-galactosyltransferase. PubMed ID: 12464682

Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy. PubMed ID: 17228361

Interaction between variants of two glycosyltransferase genes in IgA nephropathy. PubMed ID: 19357720