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B4GALT1 Gene

protein-coding GIFtS: 63

GC09M033100

UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: GGTB2)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
B4GAL-T1 ^²
Beta4Gal-T1 ^³
DKFZp686N19253 ^²
EC 2.4.1.- ^³
GGTB2 ^², ³, ⁵
GT1 ^², ⁵
GTB ^², ⁵
MGC50983 ^²
OTTHUMP00000021196 ^²
b4Gal-T1 ^³
beta4Gal-T1 ^¹, ²

Descriptions
Beta-1,4-GalTase 1 ^³
UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1 ^³
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase 1, membrane-bound form ^²
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 ^²
UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1 ^³
glycoprotein-4-beta-galactosyltransferase 2 ^²
lactose synthase A protein ^²

External Ids
HGNC: 924¹
Entrez Gene: 2683²
UniProtKB: P15291³
Ensembl: ENSG00000086062⁷

Search outside databases for aliases for B4GALT1 gene

Previous GC identifers: GC09M033422 GC09M033280 GC09M033094

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for B4GALT1:

This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II

membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate

UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc,

Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different

glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal

hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains

uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four

groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and

beta4GalT7. This gene is unique among the beta4GalT genes because it encodes an enzyme that

participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme

adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing

ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary

tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose +

D-glucose <

UniProtKB/Swiss-Prot: B4GT1_HUMAN, P15291

Function: The cell surface form functions as a recognition molecule during a variety of cell to

cell and cell to matrix interactions, as those occurring during development and egg fertilization,

by binding to specific oligosaccharide ligands on opposing cells or in the extracellular matrix

Gene Wiki entry for B4GALT1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the B4GALT1 gene

Entrez Gene cytogenetic band: 9p13 Ensembl cytogenetic band: 9p13.3 HGNC cytogenetic band: 9p13

B4GALT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M033100: (about GC identifiers)

Start:	33,100,642 bp from pter
End:	33,157,236 bp from pter
Size:	56,595 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000009.10 NT_008413.17

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: B4GT1_HUMAN, P15291 (See protein sequence)

Recommended Name: Beta-1,4-galactosyltransferase 1

Size: 398 amino acids; 43920 Da

Cofactor: Manganese (By similarity)

Subunit: Homodimer; and heterodimer with alpha-lactabulmin to form lactose synthase

Subcellular location: Isoform Long: Golgi apparatus, Golgi stack membrane; Single-pass type II

membrane protein. Cell membrane; Single-pass type II membrane protein. Cell surface. Note=Found in

trans cisternae of Golgi

Subcellular location: Isoform Short: Golgi apparatus, Golgi stack membrane; Single-pass type II

membrane protein. Note=Found in trans cisternae of Golgi

Subcellular location: Processed beta-1,4-galactosyltransferase 1: Secreted. Note=Soluble form found

in body fluids

PDB structures from and Proteopedia :

2AE7 (3D)

2AEC (3D)

2AES (3D)

2AGD (3D)

2AH9 (3D)

2FY7 (3D)

2FYA (3D)

2FYB (3D)

3EE5 (3D)

Secondary accessions: Q12909 Q12910 Q12911 Q14456 Q14509 Q14523

Alternative initiation: 2 isoforms: P15291-1 P15291-2

Post-translational modifications:

The soluble form derives from the membrane forms by proteolytic processing¹

REFSEQ proteins: NP_001488.2

ENSEMBL proteins:

ENSP00000369055

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse Abcam for Recombinant Proteins
	Human Recombinant Proteins from Abnova (B4GALT1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5/11 Gene Ontology (GO) cellular component terms (links to tree view) (see all 11 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000138	Golgi trans cisterna	IDA	6121819
GO:0005576	extracellular region	IEA	--
GO:0005737	cytoplasm	IDA	18029348
GO:0005794	Golgi apparatus	IDA	10900002
GO:0005886	plasma membrane	IEA	--

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Antibodies for B4GALT1:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for B4GALT1
	R&D Systems Antibodies for B4GALT1
	Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for B4GALT1

Assays for B4GALT1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P15291

ProtoNet protein and cluster: P15291

1 Blocks protein family: IPB003859 Metazoa galactosyltransferase

UniProtKB/Swiss-Prot: B4GT1_HUMAN, P15291

Similarity: Belongs to the glycosyltransferase 7 family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (B4GALT1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (B4GALT1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001497

Applied Biosystems Silencer® siRNAs for B4GALT1

Sigma-Aldrich siRNA and siRNA Panels for B4GALT1

Sigma-Aldrich shRNA Panels and shRNA for B4GALT1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_001497
Myc/DDK tagged cDNA clone in CMV expression vector: NM_001497
untagged cDNA clone in CMV expression vector: NM_001497

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001497

UniProtKB/Swiss-Prot: B4GT1_HUMAN, P15291

Function: The Golgi complex form catalyzes the production of lactose in the lactating mammary gland

and could also be responsible for the synthesis of complex-type N-linked oligosaccharides in many

glycoproteins as well as the carbohydrate moieties of glycolipids

Function: The cell surface form functions as a recognition molecule during a variety of cell to

cell and cell to matrix interactions, as those occurring during development and egg fertilization,

by binding to specific oligosaccharide ligands on opposing cells or in the extracellular matrix

Catalytic activity: UDP-galactose + D-glucose = UDP + lactose

Catalytic activity: UDP-galactose + N-acetyl-beta-D-glucosaminylglycopeptide = UDP +

beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminylglycopeptide

Catalytic activity: UDP-galactose + N-acetyl-D-glucosamine = UDP + N-acetyllactosamine

Enzyme Number (IUBMB): EC 2.4.1.-

Genatlas biochemistry entry for B4GALT1:

UDP galactose

15/16 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for B4galt1) (see all 16 ):

	adipose tissue	cellular	digestive/alimentary	endocrine/exocrine gland
growth/size	hematopoietic system	homeostasis/metabolism	immune system	lethality-postnatal
lethality-prenatal/perinatal	life span-post-weaning/aging	nervous system	reproductive system	respiratory system

5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003831	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	IDA	33805
GO:0003945	N-acetyllactosamine synthase activity	IDA	33805 2120039
GO:0004461	lactose synthase activity	IDA	33805
GO:0008092	cytoskeletal protein binding	IEA	--
GO:0016757	transferase activity, transferring glycosyl groups	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

3 Sigma-Aldrich "Your Favorite Gene" Pathways for B4GALT1 (Your Favorite Gene powered by Ingenuity)

Keratan Sulfate Biosynthesis
Galactose Metabolism
N-Glycan Biosynthesis

GeneDecks B4GALT1 for the pathways selected above

About GeneDecksing

UniProtKB/Swiss-Prot: B4GT1_HUMAN, P15291

Pathway: Protein modification; protein glycosylation

Gene Network Central^TM Interacting Genes and Proteins Network for B4GALT1

5/31 Interacting proteins for B4GALT1 (ENSP00000369055³) via UniProtKB, MINT, and/or STRING (see all 31 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
LALBA	ENSP00000301046³	STRING (score=.997)
FUT6	ENSP00000344210³	STRING (score=.961)
FUT5	ENSP00000252675³	STRING (score=.933)
FUT3	ENSP00000305603³	STRING (score=.931)
B3GNT1	ENSP00000305595³	STRING (score=.899)

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5/22 Gene Ontology (GO) biological process terms (links to tree view) (see all 22 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002064	epithelial cell development	IEA	--
GO:0002526	acute inflammatory response	IEA	--
GO:0005975	carbohydrate metabolic process	IEA	--
GO:0005989	lactose biosynthetic process	IEA	--
GO:0006012	galactose metabolic process	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for B4GALT1
3 Novoseek chemical compound relationships for B4GALT1 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
udpglucose	72.81	3	12667057 (1), 16157350 (1), 11488931 (1)
galactose	71.65	10	9858643 (2), 17370997 (1), 12667057 (1), 16157350 (1) (see all 7)
n-acetylglucosamine	64.00	4	12667057 (1), 19261593 (1), 16157350 (1), 11488931 (1)

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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (B4GALT1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (B4GALT1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001497

Sigma-Aldrich siRNA and siRNA Panels for B4GALT1

Sigma-Aldrich shRNA Panels and shRNA for B4GALT1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001497

REFSEQ mRNAs for B4GALT1 gene:

NM_001497.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001497

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001497
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_001497
                                 untagged cDNA clone in CMV expression vector: NM_001497

Additional cDNA sequence:

AK296928.1 AK297541.1 AK312797.1 AK316294.1 AY864848.1 BC034244.1 BC035442.1 BC045773.1

BX648438.1 CR605922.1 D29805.1 M13701.1 M22921.1 U10472.1 U10473.1 U10474.1

X13223.1 X14085.1 X55415.1

20 DOTS entries:

DT.121173829 DT.95089742 DT.219288 DT.101979287 DT.100815702 DT.40211585 DT.100790115 DT.92437322

DT.121173860 DT.40117036 DT.92031765 DT.121173861 DT.87016500 DT.91788853 DT.92000769 DT.121173823

DT.121173851 DT.92437309 DT.92437321 DT.121173847

24/608 AceView cDNA sequences (see all 608 ):

BU076050 AA399357 BU072057 CR605019 BU538031 AU141245 AK001732 BQ002021

AI801488 AA599183 AW575684 CB241604 BQ639290 AW269519 BQ356499 AW024326

BE156676 BU184731 CR605922 BF115171 BM971747 CA455316 AI354774 NM_018225

highest scoring ESTs for B4GALT1:

M22921 U10473 AA284292 AI091561 AI123067 AI206485 AI275059 AI492393 AW024326 AW140000

Unigene Cluster for B4GALT1:

UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1

Hs.272011 [show with all ESTs]

Unigene Representative Sequence: NM_001497

GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:

ENST00000379731

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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B4GALT1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for B4GALT1

¹ / ² / ³

10 probe-sets matching B4GALT1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
40960_at²^{, 3}	U95-A	1	1.00	1.00	0.91	1.45	M22921	1.00	1.00	1.00	1
32772_s_at²^{, 3}	U95-A	1	1.00	1.00	0.74	0.56	U10473	1.00	1.00	1.00	1
211631_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	M22921	1.00	1.00	1.00	1
201883_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	D29805	0.80	1.00	0.91	1
201882_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AI492393	0.80	1.00	0.91	1
216627_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	U10473	1.00	1.00	1.00	1
211631_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
201883_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
201882_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
216627_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks B4GALT1 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TCCCAGAGAC

SOURCE GeneReport for Unigene cluster: Hs.272011
Expression variation in blood from EXPOLDB for B4GALT1
UniProtKB/Swiss-Prot: B4GT1_HUMAN, P15291
Tissue specificity: Ubiquitously expressed, but at very low levels in fetal and adult brain

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for B4GALT1 gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	B4GALT1¹	--	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, more	88.95(n) 87.17(a)	481579 XM_538701.2 XP_538701.2
cow (Bos taurus)	B4GALT1¹	--	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, more	87.19(n) 84.92(a)	281781 NM_177512.2 NP_803478.1
rat (Rattus norvegicus)	B4galt1¹	--	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, more	86.82(n) 88.16(a)	24390 XM_342820.3 XP_342821.1
mouse (Mus musculus)	B4galt1^{1, 5}	4 (18.60 cM)⁵	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, more^{1, 5}	86.65(n)¹ 86.9(a)¹	14595¹ NM_022305.3¹ NP_071641.1¹ AA407245⁵ AK131721⁵ (see all 27)
chicken (Gallus gallus)	B4GALT1¹	--	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, more	68.55(n) 71.19(a)	396121 NM_205202.1 NP_990533.1

About this table Species with no ortholog for B4GALT1

ENSEMBL Gene Tree for B4GALT1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for B4GALT1 gene

B4GALT2² B4GALT4² B4GALT3²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/405 NCBI SNPs in B4GALT1 are shown (see all 405 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 164)

AB	SNP ID	Valid	Chr 9 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs7019896^1,2	A,C,F,H	33103196(+)	`ACTCTT/GGGGTG`	1	--	ut3¹ ese³		7	NA EU EA WA	538
	rs7019909^1,2	A,C,F,H	33103322(+)	`GCCATC/TTGAAT`	1	--	ut3¹ ese³		11	EU EA WA NA	968
	rs869^1,2	A,C,F,H	33103121(-)	`ATTGTC/TGTGAA`	1	--	ut3¹		10	MN EA NA EU WA	1008
	rs10971412^1,2	A,C,F,H	33103066(+)	`TCTCCG/AAATTT`	1	--	ut3¹ ese³		11	NA EU EA WA	978
	rs17326497^1,2	C,F,H	33101686(+)	`GGTCCG/ACCACG`	1	--	ut3¹ ese³		7	NA EU EA WA	558
	rs10412^1,2	A,C,F	33100839(+)	`GCCCCC/TGCCCC`	1	--	ut3¹ ese³		4	EA NA MN	242
	rs12554628^1,2	A,C,H	33158188(+)	`CTTTCC/TTAAGA`	1	--	ng3¹		4	EU EA WA	418
	rs16918998^1,2	C,F,H	33101788(+)	`TTGTGT/CCATCT`	1	--	ut3¹ ese³		7	NA EU EA WA	544
	rs17247945^1,2	C,F,H	33101714(+)	`TGGGAT/GTAGGC`	1	--	ut3¹ ese³		11	NA EU EA WA	978
	rs17326539^1,2	C,F,H	33101764(+)	`AAGGCG/ACTCAG`	1	--	ut3¹		7	NA EU EA WA	558

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HapMap Linkage Disequilibrium images for B4GALT1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 137060 disorders: 607091

UniProtKB/Swiss-Prot: B4GT1_HUMAN, P15291

Defects in B4GALT1 are the cause of congenital disorder of glycosylation type 2D (CDG2D)

[MIM:607091]. CDGs are a family of severe inherited diseases caused by a defect in protein

N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem

disorders present with a wide variety of clinical features, such as disorders of the nervous

system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation

disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of

N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions

1 PharmGKB disease relationship for B4GALT1 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute, L1	FA GN	12086872

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GeneTests: B4GALT1

Congenital Disorders of Glycosylation

Human Gene Mutation Database: B4GALT1
Human Genome Epidemiology Navigator: B4GALT1 (1 document)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/57 PubMed articles for B4GALT1 gene (see all 57 ):

DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)^{3, 4} Humphray S.J.... Dunham I. (2004)
Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions. (PubMed id 10580128)^{3, 4} Amado M.... Clausen H. (1999)
The expanding beta 4-galactosyltransferase gene family: messages from the databanks. (PubMed id 9597550)^{2, 3} Lo N.W....Shaper N.L. (1998)
Golgi retention mechanism of beta-1,4-galactosyltransferase. Membrane-spanning domain-dependent homodimerization and association with alpha- and beta-tubulins. (PubMed id 7744867)^{3, 4} Yamaguchi N. and Fukuda M.N. (1995)
The beta 1, 4-galactosyltransferase gene is post-transcriptionally regulated during differentiation of mouse F9 teratocarcinoma cells. (PubMed id 7579794)^{3, 4} Kudo T. and Narimatsu H. (1995)
Analysis of the sequences of human beta-1,4-galactosyltransferase cDNA clones. (PubMed id 7540104)^{3, 4} Chatterjee S.K.... Tripathi P.K. (1995)
Complementary DNA cloning for galactosyltransferase associated with tumor and determination of antigenic epitopes recognized by specific monoclonal antibodies. (PubMed id 1384956)^{3, 4} Uejima T.... Narimatsu H. (1992)
Genomic structure and expression of human beta-1,4- galactosyltransferase. (PubMed id 1903938)^{3, 4} Mengle-Gaw L.... Tiemeier D.C. (1991)
Evidence for a molecular distinction between Golgi and cell surface forms of beta 1,4-galactosyltransferase. (PubMed id 1714903)^{3, 4} Lopez L.C.... Shur B.D. (1991)
Analysis of the substrate binding sites of human galactosyltransferase by protein engineering. (PubMed id 2120039)^{3, 4} Aoki D.... Fukuda M.N. (1990)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 2683	HGNC: 924	AceView: B4GALT1andSMU1andLOC401500	Ensembl:ENSG00000086062	euGenes: HUgn2683
ECgene: B4GALT1	H-InvDB: B4GALT1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
GeneReviews	http://www.genetests.org/query?gene=B4GALT1
GGDB	http://riodb.ibase.aist.go.jp/rcmg/ggdb/
Functional Glycomics Gateway - GTase	http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_436

Licensable Technologies for B4GALT1
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for B4GALT1:

TaqMan ® Gene Expression Assays

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Free SNP selection tool

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Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for B4GALT1-related products

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B4GALT1 Gene

protein-coding GIFtS: 63

Aliases &
Descriptions
for B4GALT1

Summaries
for B4GALT1

Genomic Location
for B4GALT1

Proteins
for B4GALT1

Protein Domains/
Families
for B4GALT1

Gene Function
for B4GALT1

Pathways & Interactions
for B4GALT1

Drugs & Compounds
for B4GALT1

Transcripts
for B4GALT1

Expression
for B4GALT1

Orthologs
for B4GALT1

Paralogs
for B4GALT1

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for B4GALT1

Disorders & Mutations
for B4GALT1

Medical News
for B4GALT1

Publications
for B4GALT1

Search for B4GALT1

Genome Databases showing B4GALT1

Other Databases showing B4GALT1

Specialized Databases showing B4GALT1

Licensable Technologies
for B4GALT1

Services
for B4GALT1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

B4GALT1 Gene

protein-coding GIFtS: 63

Aliases & Descriptionsfor B4GALT1

Summariesfor B4GALT1

Genomic Locationfor B4GALT1

Proteinsfor B4GALT1

Protein Domains/Familiesfor B4GALT1

Gene Functionfor B4GALT1

Pathways & Interactionsfor B4GALT1

Drugs & Compoundsfor B4GALT1

Transcriptsfor B4GALT1

Expression for B4GALT1

Orthologsfor B4GALT1

Paralogsfor B4GALT1

SNPs/Variantsfor B4GALT1

Disorders & Mutationsfor B4GALT1

Medical Newsfor B4GALT1

Publicationsfor B4GALT1

Search for B4GALT1

Genome Databases showing B4GALT1

Other Databases showing B4GALT1

Specialized Databases showing B4GALT1

Licensable Technologiesfor B4GALT1

Servicesfor B4GALT1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for B4GALT1

Summaries
for B4GALT1

Genomic Location
for B4GALT1

Proteins
for B4GALT1

Protein Domains/
Families
for B4GALT1

Gene Function
for B4GALT1

Pathways & Interactions
for B4GALT1

Drugs & Compounds
for B4GALT1

Transcripts
for B4GALT1

Expression
for B4GALT1

Orthologs
for B4GALT1

Paralogs
for B4GALT1

SNPs/Variants
for B4GALT1

Disorders & Mutations
for B4GALT1

Medical News
for B4GALT1

Publications
for B4GALT1

Licensable Technologies
for B4GALT1

Services
for B4GALT1