B4GALT7 - beta-1,4-galactosyltransferase 7 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 11285

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-E70138	β-1,4-Galactosyltransferase 7		/	Unkown
HY-RS01325	B4GALT7 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	B4GALT7	NCBI