B4GAT1 | ENSG00000174684 | NCBI 11041

Details for: B4GAT1

Gene ID: 11041

Symbol: B4GAT1

Ensembl ID: ENSG00000174684

Description: beta-1,4-glucuronyltransferase 1

Associated with

Defective large causes mddga6 and mddgb6
(R-HSA-5083627)
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)
Glycosaminoglycan metabolism
(R-HSA-1630316)
Keratan sulfate/keratin metabolism
(R-HSA-1638074)
Keratan sulfate biosynthesis
(R-HSA-2022854)
Metabolism
(R-HSA-1430728)
Metabolism of carbohydrates
(R-HSA-71387)
Metabolism of proteins
(R-HSA-392499)
O-linked glycosylation
(R-HSA-5173105)
Post-translational protein modification
(R-HSA-597592)
Axon guidance
(GO:0007411)
Extracellular exosome
(GO:0070062)
Glucuronosyltransferase activity
(GO:0015020)
Golgi apparatus
(GO:0005794)
Golgi membrane
(GO:0000139)
Keratan sulfate biosynthetic process
(GO:0018146)
Metal ion binding
(GO:0046872)
N-acetyllactosaminide beta-1,3-n-acetylglucosaminyltransferase activity
(GO:0008532)
Poly-n-acetyllactosamine biosynthetic process
(GO:0030311)
Protein binding
(GO:0005515)
Protein o-linked mannosylation
(GO:0035269)

Other Information

Proteins

I-beta-1,3-N-acetylglucosaminyltransferase

Genular Protein ID: 2005590112

Symbol: B4GA1_HUMAN

Name: I-beta-1,3-N-acetylglucosaminyltransferase

UniProtKB Accession Codes:

O43505 Q4TTN0

Database IDs:

Citations:

PubMed ID: 9405606

Title: Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis.

PubMed ID: 9405606

DOI: 10.1073/pnas.94.26.14294

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: 19587235

Title: Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase.

PubMed ID: 19587235

DOI: 10.1073/pnas.0904515106

PubMed ID: 23359570

Title: Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.

PubMed ID: 23359570

DOI: 10.1093/hmg/ddt021

PubMed ID: 23877401

Title: A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome.

PubMed ID: 23877401

DOI: 10.1007/s10048-013-0367-8

PubMed ID: 25279699

Title: The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated alpha-dystroglycan functional glycosylation.

PubMed ID: 25279699

DOI: 10.7554/elife.03941

PubMed ID: 25279697

Title: B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of alpha-dystroglycan.

PubMed ID: 25279697

DOI: 10.7554/elife.03943

Sequence Information:

Length: 415
Mass: 47119
Checksum: 432D00980EFE2B35
Sequence:

MQMSYAIRCA FYQLLLAALM LVAMLQLLYL SLLSGLHGQE EQDQYFEFFP PSPRSVDQVK 
AQLRTALASG GVLDASGDYR VYRGLLKTTM DPNDVILATH ASVDNLLHLS GLLERWEGPL 
SVSVFAATKE EAQLATVLAY ALSSHCPDMR ARVAMHLVCP SRYEAAVPDP REPGEFALLR 
SCQEVFDKLA RVAQPGINYA LGTNVSYPNN LLRNLAREGA NYALVIDVDM VPSEGLWRGL 
REMLDQSNQW GGTALVVPAF EIRRARRMPM NKNELVQLYQ VGEVRPFYYG LCTPCQAPTN 
YSRWVNLPEE SLLRPAYVVP WQDPWEPFYV AGGKVPTFDE RFRQYGFNRI SQACELHVAG 
FDFEVLNEGF LVHKGFKEAL KFHPQKEAEN QHNKILYRQF KQELKAKYPN SPRRC

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: B4GAT1

Associated with

Other Information

Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis. PubMed ID: 9405606

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

Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase. PubMed ID: 19587235

Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. PubMed ID: 23359570

A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. PubMed ID: 23877401

The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated alpha-dystroglycan functional glycosylation. PubMed ID: 25279699

B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of alpha-dystroglycan. PubMed ID: 25279697