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B4GALT7 Gene

protein-coding GIFtS: 59

GC05P176959

xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
B4GAL-T7 ^²
Beta4Gal-T7 ^³
EC 2.4.1.- ^³
XGALT-1 ^¹, ²
XGALT1 ^², ³, ⁵
XGPT1 ^², ⁵
b4Gal-T7 ^³
beta4Gal-T7 ^¹, ²

Descriptions
Beta-1,4-GalTase 7 ^³
UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7 ^³
UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7 ^³
beta-1,4-galactosyltransferase 7 ^²
galactosyltransferase 1 (xylosylprotein 4-beta-galactosyltransferase) ^²
xylosylprotein beta 1,4-galactosyltransferase 7 ^²
xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) ^²

External Ids
HGNC: 930¹
Entrez Gene: 11285²
UniProtKB: Q9UBV7³
Ensembl: ENSG00000027847⁷

Search outside databases for aliases for B4GALT7 gene

Previous GC identifers: GC05P177400 GC05P177868 GC05P177095 GC05P177140

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

EntrezGene summary for B4GALT7:

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. The enzyme encoded by this gene attaches the first galactose in the common

carbohydrate-protein (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) linkage found in

proteoglycans. Manganese is required as a cofactor. This enzyme differs from the other six

beta4GalTs because it lacks the conserved beta4GalT1-beta4GalT6 Cys residues and it is located in

cis-Golgi instead of trans-Golgi. Two single-nucleotide mutations were identified from a patient

with the progeroid type of Ehlers-Danlos syndrome. [provided by RefSeq]

UniProtKB/Swiss-Prot: B4GT7_HUMAN, Q9UBV7

Function: Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans,

especially for small proteoglycans in skin fibroblasts

Gene Wiki entry for B4GALT7

(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 B4GALT7 gene

Entrez Gene cytogenetic band: 5q35.2-q35.3 Ensembl cytogenetic band: 5q35.3 HGNC cytogenetic band: 5q35.1-q35.3

B4GALT7 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 5 GeneLoc Exon Structure

GeneLoc location for GC05P176959: (about GC identifiers)

Start:	176,959,778 bp from pter
End:	176,969,937 bp from pter
Size:	10,160 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000005.8 NT_023133.12

(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: B4GT7_HUMAN, Q9UBV7 (See protein sequence)

Recommended Name: Beta-1,4-galactosyltransferase 7

Size: 327 amino acids; 37406 Da

Cofactor: Manganese

Subcellular location: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein.

Note=Cis cisternae of Golgi stack

Secondary accessions: Q9UHN2

REFSEQ proteins: NP_009186.1

ENSEMBL proteins:

ENSP00000029410

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
	Recombinant Proteins from Abcam (B4GALT7)
	Human Recombinant Proteins from Abnova (B4GALT7)

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

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005794	Golgi apparatus	IDA	10506123
GO:0016020	membrane	IEA	--
GO:0016021	integral to membrane	IDA	10438455

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Antibodies for B4GALT7:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse Antibodies at Sigma-Aldrich
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (B4GALT7), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (B4GALT7)
	Novus Biologicals Antibodies for B4GALT7

Assays for B4GALT7:

	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)
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Graphical View of Domain Structure for InterPro Entry Q9UBV7

ProtoNet protein and cluster: Q9UBV7

1 Blocks protein family: IPB003859 Metazoa galactosyltransferase

UniProtKB/Swiss-Prot: B4GT7_HUMAN, Q9UBV7

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.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (B4GALT7)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_007255

Applied Biosystems Silencer® siRNAs for B4GALT7

Sigma-Aldrich siRNA for B4GALT7

Sigma-Aldrich shRNA for B4GALT7

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for B4GALT7
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_007255
Myc/DDK tagged cDNA clone in CMV expression vector: NM_007255
untagged cDNA clone in CMV expression vector: NM_007255

Primers:

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

OriGene genome-wide validated SYBR primer pairs: NM_007255

UniProtKB/Swiss-Prot: B4GT7_HUMAN, Q9UBV7

Function: Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans,

especially for small proteoglycans in skin fibroblasts

Catalytic activity: UDP-galactose + O-beta-D-xylosylprotein = UDP +

4-beta-D-galactosyl-O-beta-D-xylosylprotein

Enzyme Number (IUBMB): EC 2.4.1.-

Genatlas biochemistry entry for B4GALT7:

UDP-galactose

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008378	galactosyltransferase activity	IMP	16583246
GO:0016757	transferase activity, transferring glycosyl groups	IEA	--
GO:0030145	manganese ion binding	IEA	--
GO:0046525	xylosylprotein 4-beta-galactosyltransferase activity	IDA	10438455
GO:0046872	metal ion binding	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.)
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3 Sigma-Aldrich "Your Favorite Gene" Pathways for B4GALT7 (Your Favorite Gene powered by Ingenuity)

N-Glycan Biosynthesis
Chondroitin Sulfate Biosynthesis
Keratan Sulfate Biosynthesis

GeneDecks B4GALT7 for the pathways selected above

About GeneDecksing

UniProtKB/Swiss-Prot: B4GT7_HUMAN, Q9UBV7

Pathway: Protein modification; protein glycosylation

3 Interacting proteins for B4GALT7 (ENSP00000029410³) via UniProtKB, MINT, and/or STRING

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
XYLT1	ENSP00000261381³	STRING (score=.899)
XYLT2	ENSP00000017003³	STRING (score=.899)
--	ENSP00000322084³	STRING (score=.91)

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5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	IEA	--
GO:0006024	glycosaminoglycan biosynthetic process	IDA	10438455
GO:0006029	proteoglycan metabolic process	IMP	16583246
GO:0006464	protein modification process	TAS	10473568
GO:0043206	fibril organization	IMP	16583246

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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 B4GALT7
2 Novoseek chemical compound relationships for B4GALT7 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
glycosaminoglycan	72.87	5	15859521 (2), 12215432 (1), 18158310 (1)
xylose	48.46	2	12215432 (1)

About this table

(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 (B4GALT7)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_007255

Sigma-Aldrich siRNA for B4GALT7

Sigma-Aldrich shRNA for B4GALT7

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_007255

REFSEQ mRNAs for B4GALT7 gene:

NM_007255.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_007255

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_007255
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_007255
                                 untagged cDNA clone in CMV expression vector: NM_007255

Additional cDNA sequence:

AB028600.1 AF142675.1 AJ005382.1 AK022566.1 AK023506.1 AK095882.1 AK123092.1 AY358578.1

BC007317.2 BC062983.1 BC072403.1 CR594028.1 CR612279.1 CR617329.1 CR618705.1 CR626294.1

11 DOTS entries:

DT.213863 DT.97797729 DT.100816558 DT.100816555 DT.100816559 DT.409072 DT.75175811 DT.120800844

DT.120800846 DT.65285309 DT.95180866

24/166 AceView cDNA sequences (see all 166 ):

BC062983 AA358664 AI031683 AW955905 BU630222 BC007317 BM705211 BM548760

BU623622 BM557587 BM983135 BM719653 BM682941 BU849735 CR612279 BU553027

BC072403 CA425712 AU156288 CA487485 AA281637 AI249349 CR594028 AA365120

highest scoring ESTs for B4GALT7:

AI040029 AA100753 AA125832 AA281637 AA358664 AA358665 AA365120 AA442547 AA477761 AA477870

Unigene Cluster for B4GALT7:

Xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)

Hs.455109 [show with all ESTs]

Unigene Representative Sequence: AK022566

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for B4GALT7 (see all 7 )

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3a	·	3b	^	4a	·	4b	·	4c	·	4d	^	5a	·	5b	^	6	^	7a	·	7b	·	7c	·	7d
SP1:									-		-				-		-						-
SP2:															-		-						-
SP3:									-		-				-		-						-		-
SP4:									-		-				-								-
SP5:											-				-		-

About this scheme

ECgene alternative splicing isoforms for B4GALT7

1 Ensembl transcript including schematic representation:

ENST00000029410

(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 )
About This Section

B4GALT7 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for B4GALT7

¹ / ² / ³

6 probe-sets matching B4GALT7 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
53076_at²^{, 3}	U133-B	1	1.00	1.00	0.27	1.05	AI040029	1.00	1.00	1.00	1
46447_at²^{, 3}	U95-B	1	0.81	1.00	0.85	0.95	AI381513	0.60	1.00	0.82	1
222191_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AK022566	0.80	1.00	0.91	1
53076_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AI040029	1.00	1.00	1.00	1
222191_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
53076_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks B4GALT7 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: CCGGAATGTG

SOURCE GeneReport for Unigene cluster: Hs.455109
UniProtKB/Swiss-Prot: B4GT7_HUMAN, Q9UBV7
Tissue specificity: High expression in heart, pancreas and liver, medium in placenta and kidney,
low in brain, skeletal muscle and lung

(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 B4GALT7 gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	B4GALT7¹	--	xylosylprotein beta 1,4-galactosyltransferase, polypeptide more	90.83(n) 93.85(a)	481445 XM_538566.2 XP_538566.2
chimpanzee (Pan troglodytes)	B4GALT7¹	--	xylosylprotein beta 1,4-galactosyltransferase, polypeptide more	99.39(n) 100(a)	664711 NM_001039964.1 NP_001035053.1
rat (Rattus norvegicus)	B4galt7¹	--	xylosylprotein beta1,4-galactosyltransferase, polypeptide more	88.45(n) 92.94(a)	364675 NM_001031661.1 NP_001026831.1
mouse (Mus musculus)	B4galt7^{1, 5}	13⁵	xylosylprotein beta1,4-galactosyltransferase, polypeptide more^{1, 5}	88.45(n)¹ 92.33(a)¹	218271¹ NM_146045.1¹ NP_666157.1¹ AK050684⁵ AK141739⁵ (see all 9)
chicken (Gallus gallus)	B4GALT7¹	--	xylosylprotein beta 1,4-galactosyltransferase, polypeptide more	78.51(n) 79.25(a)	416359 NM_001039911.1 NP_001035000.1

About this table Species with no ortholog for B4GALT7

ENSEMBL Gene Tree for B4GALT7

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for B4GALT7 gene

B4GALT5² B4GALT6²

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

10/84 NCBI SNPs in B4GALT7 are shown (see all 84 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 41)

AB	SNP ID	Valid	Chr 5 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs13175367^1,2	A,C	176970365(+)	`GTCACC/TGAATG`	1	--	ng3¹		0	--	--	--	--
	rs747861^1,2	A,F	176970003(+)	`GGGGAG/CGGGTG`	1	--	ng3¹		1		MN	184
	rs13175194^1,2	A,C	176970216(+)	`GAGAGC/TGGCTG`	1	--	ng3¹		0	--	--	--	--
--	rs28375402^1,2	C	176958369(+)	`GGGAAA/GAACAA`	1	--	ng5¹		0	--	--	--	--
	rs729459^1,2	A,C,F,H	176968570(+)	`CTGCAC/TGACCC`	1	H/H	syn¹ ese³		10		NA EA MN EU WA	1020
	rs968406^1,2	A,C,F,H	176967664(-)	`AAGTGG/CTTCTT`	1	--	int¹		8		EA NA EU WA	562
	rs11249570^1,2	A,C,F,H	176966400(+)	`TGCCCG/ATTggt`	1	--	int¹		4		EU EA WA	412
	rs3792849^1,2	C,F,H	176967392(-)	`AAGGTG/ACACCT`	1	--	int¹		5		EA EU WA	1904
--	rs6600950^1,2	C,F,H	176966125(+)	`ctaggG/Ccacct`	1	--	int¹		4		EU EA WA	414
--	rs6600953^1,2	C,H	176968649(+)	`GGGACG/AGATAG`	1	--	int¹		4		EU EA WA	384

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HapMap Linkage Disequilibrium images for B4GALT7 (up to first 250kb)

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

OMIM: 604327 disorders: 130070

UniProtKB/Swiss-Prot: B4GT7_HUMAN, Q9UBV7

Defects in B4GALT7 are the cause of progeroid Ehlers-Danlos syndrome (EDS) [MIM:130070].

EDSP is a variant form of Ehlers-Danlos syndrome characterized by progeroid facies, mild mental

retardation, short stature, skin hyperextensibility, moderate skin fragility, joint hypermobility

principally in digits

1 Novoseek disease relationship for B4GALT7 gene

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
ehlers-danlos syndrome	89.81	8	18158310 (2), 12417421 (1), 16583246 (1), 19133250 (1) (see all 6)

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Human Gene Mutation Database: B4GALT7

(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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10/21 PubMed articles for B4GALT7 gene (see all 21 ):

Human homolog of Caenorhabditis elegans sqv-3 gene is galactosyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans. (PubMed id 10438455)^{2, 3, 4} Okajima T.... Furukawa K. (1999)
Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family. (PubMed id 10473568)^{2, 3, 4} Almeida R....Clausen H. (1999)
Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. (PubMed id 10506123)^{1, 3, 4} Okajima T.... Urano T. (1999)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)^{3, 4} Clark H.F....Gray A. (2003)
Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions. (PubMed id 10580128)^{3, 4} Amado M.... Clausen H. (1999)
Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (beta4GalT-7) deficient form of Ehlers-Danlos syndrome. (PubMed id 18158310)^{1, 3} Gotte M....Kiesel L. (2008)
Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7). (PubMed id 16583246)^{1, 3} Seidler D.G....Gotte M. (2006)
Assignment of human xylosylprotein beta-1,4-galactosyltransferase gene (B4GALT7) to human chromosome 5q35.2-->q35.3 by in situ hybridization. (PubMed id 10894925)^{1, 3} Kuroiwa A....Furukawa K. (2000)
Phosphorylation and sulfation of oligosaccharide substrates critically influence the activity of human beta1,4-galactosyltransferase 7 (GalT-I) and beta1,3-glucuronosyltransferase I (GlcAT-I) involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans. (PubMed id 15522873)³ Gulberti S....Fournel-Gigleux S. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 11285	HGNC: 930	AceView: B4GALT7	Ensembl:ENSG00000027847	euGenes: HUgn11285
ECgene: B4GALT7	H-InvDB: B4GALT7

(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
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_442

Licensable Technologies for B4GALT7
(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)
About This Section

Products for B4GALT7:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
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 B4GALT7-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
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Antibodies for B4GALT7

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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

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B4GALT7 Gene at Home site.
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B4GALT7 Gene

protein-coding GIFtS: 59

Aliases &
Descriptions
for B4GALT7

Summaries
for B4GALT7

Genomic Location
for B4GALT7

Proteins
for B4GALT7

Protein Domains/
Families
for B4GALT7

Gene Function
for B4GALT7

Pathways & Interactions
for B4GALT7

Drugs & Compounds
for B4GALT7

Transcripts
for B4GALT7

Expression
for B4GALT7

Orthologs
for B4GALT7

Paralogs
for B4GALT7

SNPs/Variants
for B4GALT7

Disorders & Mutations
for B4GALT7

Medical News
for B4GALT7

Publications
for B4GALT7

Search for B4GALT7

Genome Databases showing B4GALT7

Other Databases showing B4GALT7

Specialized Databases showing B4GALT7

Licensable Technologies
for B4GALT7

Services
for B4GALT7

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

B4GALT7 Gene

protein-coding GIFtS: 59

Aliases & Descriptionsfor B4GALT7

Summariesfor B4GALT7

Genomic Locationfor B4GALT7

Proteinsfor B4GALT7

Protein Domains/Familiesfor B4GALT7

Gene Functionfor B4GALT7

Pathways & Interactionsfor B4GALT7

Drugs & Compoundsfor B4GALT7

Transcriptsfor B4GALT7

Expression for B4GALT7

Orthologsfor B4GALT7

Paralogsfor B4GALT7

SNPs/Variantsfor B4GALT7

Disorders & Mutationsfor B4GALT7

Medical Newsfor B4GALT7

Publicationsfor B4GALT7

Search for B4GALT7

Genome Databases showing B4GALT7

Other Databases showing B4GALT7

Specialized Databases showing B4GALT7

Licensable Technologiesfor B4GALT7

Servicesfor B4GALT7

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 B4GALT7

Summaries
for B4GALT7

Genomic Location
for B4GALT7

Proteins
for B4GALT7

Protein Domains/
Families
for B4GALT7

Gene Function
for B4GALT7

Pathways & Interactions
for B4GALT7

Drugs & Compounds
for B4GALT7

Transcripts
for B4GALT7

Expression
for B4GALT7

Orthologs
for B4GALT7

Paralogs
for B4GALT7

SNPs/Variants
for B4GALT7

Disorders & Mutations
for B4GALT7

Medical News
for B4GALT7

Publications
for B4GALT7

Licensable Technologies
for B4GALT7

Services
for B4GALT7