B4GALT7 - beta-1,4-galactosyltransferase 7 Gene

Homo sapiens

Also known as XGPT; EDSP1; XGPT1; EDSSLA; XGALT1; EDSSPD1

Gene ID: 11285 | Gene type: protein coding

About B4GALT7

Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38): 5:177,600,132-177,610,330 (from NCBI)

This gene has 8 transcripts (splice variants), 205 orthologues, 6 paralogues and is associated with 5 phenotypes. Ubiquitous expression in testis (RPKM 4.7), prostate (RPKM 3.6) and 25 other tissues.

Summary

This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member 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 which then remains uncleaved to function as a transmembrane anchor. The Enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This Enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009]

B4GALT7 Products(1)

mRNA	Protein	Name
NM_007255.3	NP_009186.1	beta-1,4-galactosyltransferase 7

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity	IDA IDA: Inferred from direct assay	24052259	GOA
enables galactosyltransferase activity	IDA IDA: Inferred from direct assay	10506123	GOA
enables galactosyltransferase activity	IMP IMP: Inferred from mutant phenotype	16583246	GOA
enables manganese ion binding	IDA IDA: Inferred from direct assay	24052259	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables xylosylprotein 4-beta-galactosyltransferase activity	IDA IDA: Inferred from direct assay	10438455	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in glycosaminoglycan biosynthetic process	IDA IDA: Inferred from direct assay	10438455	GOA
involved in negative regulation of fibroblast proliferation	IMP IMP: Inferred from mutant phenotype	16583246	GOA
involved in protein N-linked glycosylation	IDA IDA: Inferred from direct assay	24052259	GOA
involved in proteoglycan metabolic process	IMP IMP: Inferred from mutant phenotype	16583246	GOA
involved in supramolecular fiber organization	IMP IMP: Inferred from mutant phenotype	16583246	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	10506123	GOA
located in membrane	IDA IDA: Inferred from direct assay	10438455	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

B4GALT7 Protein Structure

Glyco_transf_7N

Glyco_transf_7C

0
100
200
300
327 a.a.

Protein Preferred Names

Protein Names

beta-1,4-galactosyltransferase 7

UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7

B4GALT7 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	B4GALT7	Q9UBV7	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	B4GALT7	Q9UBV7	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	B4GALT7	Q9UBV7	RABGGTB	Homo sapiens	P53611	Validated Y2H	25416956
Intra	B4GALT7	Q9UBV7	RABGGTB	Homo sapiens	P53611	Y2H Prey Pooling	32296183
Intra	B4GALT7	Q9UBV7	RABGGTB	Homo sapiens	P53611	Y2H Array	32296183
Intra	B4GALT7	Q9UBV7	TMEM14B	Homo sapiens	Q9NUH8	Y2H Prey Pooling	32296183
Intra	B4GALT7	Q9UBV7	TMEM14B	Homo sapiens	Q9NUH8	Y2H Array	32296183
Intra	B4GALT7	Q9UBV7	KRT31	Homo sapiens	Q15323	Y2H Prey Pooling	32296183
Intra	B4GALT7	Q9UBV7	KRT31	Homo sapiens	Q15323	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

Xylosylprotein 4-Beta-Galactosyltransferase Deficiency	Xgpt Deficiency
EDSSPD1	Ehlers-Danlos Syndrome With Short Stature And Limb Anomalies
Edssla	Proteodermatan Sulfate, Defective Biosynthesis Of
Pds, Defective Biosynthesis Of	Dermatan Sulfate Proteoglycan
Galactosyltransferase I Deficiency	Ehlers-Danlos Syndrome Spondylodysplastic Type 1
Spondylodysplastic Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome, Progeroid Type, 1, Formerly
Edsp1, Formerly	Ehlers-Danlos Syndrome, Progeroid Type
Galactosyltransferase 1 Deficiency	Spondylodysplastic Eds
Speds	Defective Biosynthesis Of Pds
Defective Biosynthesis Of Proteodermatan Sulfate	Edsp1
Ehlers-Danlos Syndrome, Progeroid Type, 1	Proteodermatan Sulfate Defective Biosynthesis Of
Ehlers-Danlos, Spondylodysplastic Syndrome	Ehlers-Danlos Syndrome, Progeroid Form

B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

B4galt7-Related Spondylodysplastic Eds	Eds Progeroid Type 1
Eds With Short Stature And Limb Anomalies	Speds-B4galt7

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Ehlers-Danlos Syndrome Progeroid Type	Ehlers-Danlos Syndrome, Progeroid Type, 2
EDSSPD2	Ehlers-Danlos Syndrome Spondylodysplastic Type 2
Ehlers-Danlos Syndrome, Progeroid Type, 2, Formerly	Edsp2, Formerly
Defective Biosynthesis Of Proteodermatan Sulfate	Xgpt Deficiency
Xylosylprotein 4-Beta-Galactosyltransferase Deficiency	B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
B3galt6-Related Speds	B3galt6-Related Spondylodysplastic Eds
Beta3galt6-Deficient Eds	Ehlers-Danlos Syndrome Progeroid Type 2
Speds-B3galt6	Edsp2
Ehlers-Danlos, Spondylodysplastic Syndrome, Type 2	Ehlers-Danlos Syndrome, Progeroid Form

Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations

Spondyloepiphyseal Dysplasia	Chst3-Related Skeletal Dysplasia
Humerospinal Dysostosis	Spondyloepiphyseal Dysplasia, Omani Type
Chondrodysplasia With Multiple Dislocations	SEDCJD
Hsd	Cdmd
Humero-Spinal Dysostosis	Kozlowski Celermajer Tink Syndrome
Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type	Larsen Syndrome, Recessive Type
Humero-Spinal Dysostosis With Congenital Heart Disease	Omani Type
Sed	Chst3 Deficiency
Chst3-Related Dysplasia	Recessive Larsen Syndrome
Autosomal Recessive Larsen Syndrome	Sed With Luxations, Chst3 Type
Sed, Omani Type	Sdcd, Chst3 Type
Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type	Sed Omani Type
Spondyloepiphyseal Dysplasia Omani Type	Larsen Syndrome, Autosomal Recessive
Mucopolysaccharidosis Iv	Spondyloepiphyseal Dysplasia, Congenita

Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects

JDSCD	Larsen Syndrome, Autosomal Recessive, Formerly
Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, With Or Without Congenital Heart Defects	Autosomal Recessive Larsen Syndrome
Larsen-Like Syndrome	Larsen-Like Syndrome B3gat3 Type
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism Without Congenital Heart Defects	Larsen Syndrome, Recessive Type

Larsen-Like Syndrome B3gat3 Type

Larsen-Like Syndrome, B3gat3 Type	Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Congenital Heart Defects	Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects

Ehlers-Danlos Syndrome

Eds	Cutis Hyperelastica
Elastic Skin	Ehlers-Danlos Syndromes
Ed Syndrome	Ehlers Danlos Syndrome
Ehlers Danlos Disease	Eds - [Ehlers-Danlos Syndrome]

Progeroid Syndrome

Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures

SEMDJL1	Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1
Semdjl	Spondyloepimetaphyseal Dysplasia With Joint Laxity, 1, With Or Without Fractures
Semdjl-Beighton Type	Spondyloepimetaphyseal Dysplasia With Joint Laxity Beighton Type

Desbuquois Dysplasia

Desbuquois Syndrome	Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification
Dysplasia, Desbuquois

Stickler Syndrome, Type I

Stickler Syndrome 1	Stickler Syndrome Type 1
STL1	Aom
Stickler Syndrome, Type 1	Stickler Syndrome, Vitreous Type 1
Stickler Syndrome, Membranous Vitreous Type	Arthroophthalmopathy, Hereditary Progressive
Arthro-Ophthalmopathy Hereditary Progressive	Stickler Syndrome Membranous Vitreous Type
Stickler Syndrome Type I	Stickler Syndrome Vitreous Type 1

Larsen Syndrome

LRS	Larsen Syndrome, Dominant Type
Dominant Larsen Syndrome	Autosomal Dominant Larsen Syndrome
Larsens Syndrome

Spondyloepimetaphyseal Dysplasia With Joint Laxity

Dysplasia, Spondyloepimetaphyseal, With Joint Laxity	Semdjl
Spondyloepimetaphyseal Dysplasia Joint Laxity	Semd-Jl
Semdjl1	Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Beighton Type

Radioulnar Synostosis

Radio-Ulnar Synostosis Type 1

Temtamy Preaxial Brachydactyly Syndrome

Preaxial Brachydactyly Syndrome, Temtamy Type	TPBS
Intellectual Disability Syndrome With Preaxial Brachydactyly, Hyperphalangism, Deafness And Orodental Anomalies	Preaxial Brachydactyly Syndrome Temtamy Type

Dyskeratosis Congenita, Autosomal Recessive 2

DKCB2	Autosomal Recessive Dyskeratosis Congenita 2
Dyskeratosis Congenita, Autosomal Recessive, 2	Dyskeratosis Congenita, Autosomal Recessive, Type 2

Boomerang Dysplasia

BOOMD	Boomerang-Like Skeletal Dysplasia
Dwarfism With Short, Bowed, Rigid Limbs And Characteristic Facies	Piepkorn Dysplasia
Dysplasia, Boomerang

Collagen Disease

Collagen Diseases

Collagen Disorder

Caspase 8 Deficiency

Autoimmune Lymphoproliferative Syndrome Type 2b	Caspase-8 Deficiency
Ceds	Alps2b
Autoimmune Lymphoproliferative Syndrome, Type Iib	Alps With Recurrent Viral Infections
Autoimmune Lymphoproliferative Syndrome With Recurrent Viral Infections	Caspase 8 Deficiency Syndrome
Caspase 8 Lymphadenopathy Syndrome	Autoimmune Lymphoproliferative Syndrome Type Iib
Caspase Eight Deficiency State	CASP8D

Vulto-Van Silfhout-De Vries Syndrome

Vulto-Van Silfout-De Vries Syndrome	VSVS
Intellectual Developmental Disorder With Impaired Expressive Speech And Behavioral Abnormalities, With Or Without Seizures	Iddisbas
Mrd24	Mental Retardation, Autosomal Dominant 24
Autosomal Dominant Mental Retardation 24	Autosomal Dominant Non-Syndromic Intellectual Disability 24
Mental Retardation, Autosomal Dominant, Type 24

Hypermobility Syndrome

Benign Joint Hypermobility

Spondyloepimetaphyseal Dysplasia

Dysplasia, Spondyloepimetaphyseal

Geroderma Osteodysplasticum

Gerodermia Osteodysplastica	Geroderma Osteodysplastica
GO	Walt Disney Dwarfism
Type Of Gerodermia Osteodysplastica

Loeys-Dietz Syndrome

Loeys-Dietz Aortic Aneurysm Syndrome	Lds
Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies	Furlong Syndrome

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

Brittle Bone Disorder

Osteogenesis Imperfecta	Brittle Bone Disease
Fragilitas Ossium	Osteopsathyrosis
Lobstein Disease	Oi
Vrolik Disease	Lobstein'S Disease
Lobstein'S Syndrome	Vrolik'S Disease
Porak And Durante Disease	Glass Bone Disease
Osteogenesis Imperfecta, Dominant Perinatal Lethal	Osteogenesis Imperfecta, Recessive Perinatal Lethal
Brittle Bone Syndrome	Oi - [Osteogenesis Imperfecta]
Ossium Fragility	Osteitis Fragilitans
Bony Fragility	Blue Sclera With Fragility Of Bone And Deafness
White Blue Sclera - Fragility Of Bone - Deafness

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01325	B4GALT7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	B4GALT7	VGNC	VGNC:70214
Bos taurus	B4GALT7	VGNC	VGNC:26394
Mus musculus	B4GALT7	MGD	MGI:2384987
Rattus norvegicus	B4GALT7	RGD	RGD:1309214
Canis familiaris	B4GALT7	VGNC	VGNC:82285
Felis catus	B4GALT7	VGNC	VGNC:69008

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