UniProtKB - Q9UBV7 (B4GT7_HUMAN)
Protein
Beta-1,4-galactosyltransferase 7
Gene
B4GALT7
Organism
Homo sapiens (Human)
Status
Functioni
Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.1 Publication
Catalytic activityi
- 3-O-(β-D-xylosyl)-L-seryl-[protein] + UDP-α-D-galactose = 3-O-(β-D-galactosyl-(1→4)-β-D-xylosyl)-L-seryl-[protein] + H+ + UDP1 PublicationEC:2.4.1.1331 Publication
Cofactori
Mn2+1 Publication
: protein glycosylation Pathwayi
This protein is involved in the pathway protein glycosylation, which is part of Protein modification.View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 165 | ManganeseCombined sources1 Publication | 1 | |
Binding sitei | 194 | UDP-alpha-D-galactoseCombined sources1 Publication | 1 | |
Binding sitei | 224 | UDP-alpha-D-galactoseCombined sources1 Publication | 1 | |
Metal bindingi | 257 | Manganese; via tele nitrogenCombined sources1 Publication | 1 | |
Binding sitei | 266 | UDP-alpha-D-galactoseCombined sources1 Publication | 1 |
GO - Molecular functioni
- beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity Source: UniProtKB
- galactosyltransferase activity Source: UniProtKB
- manganese ion binding Source: UniProtKB
- xylosylprotein 4-beta-galactosyltransferase activity Source: UniProtKB
GO - Biological processi
- carbohydrate metabolic process Source: InterPro
- cellular protein modification process Source: ProtInc
- glycosaminoglycan biosynthetic process Source: UniProtKB
- glycosaminoglycan metabolic process Source: Reactome
- negative regulation of fibroblast proliferation Source: UniProtKB
- protein N-linked glycosylation Source: UniProtKB
- proteoglycan metabolic process Source: UniProtKB
- supramolecular fiber organization Source: UniProtKB
Keywordsi
Molecular function | Glycosyltransferase, Transferase |
Ligand | Manganese, Metal-binding |
Enzyme and pathway databases
BioCyci | MetaCyc:HS00459-MONOMER |
BRENDAi | 2.4.1.133, 2681 |
PathwayCommonsi | Q9UBV7 |
Reactomei | R-HSA-1971475, A tetrasaccharide linker sequence is required for GAG synthesis R-HSA-3560783, Defective B4GALT7 causes EDS, progeroid type |
UniPathwayi | UPA00378 |
Protein family/group databases
CAZyi | GT7, Glycosyltransferase Family 7 |
Names & Taxonomyi
Protein namesi | Recommended name: Beta-1,4-galactosyltransferase 7 (EC:2.4.1.-)Short name: Beta-1,4-GalTase 7 Short name: Beta4Gal-T7 Short name: b4Gal-T7 Alternative name(s): Proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7 UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7 UDP-galactose:beta-xylose beta-1,4-galactosyltransferase XGPT XGalT-1 Xylosylprotein 4-beta-galactosyltransferase (EC:2.4.1.133) Xylosylprotein beta-1,4-galactosyltransferase |
Gene namesi | Name:B4GALT7 Synonyms:XGALT1 ORF Names:UNQ748/PRO1478 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:930, B4GALT7 |
MIMi | 604327, gene |
neXtProti | NX_Q9UBV7 |
VEuPathDBi | HostDB:ENSG00000027847.13 |
Subcellular locationi
Golgi apparatus
Note: Cis cisternae of Golgi stack.
Golgi apparatus
- Golgi apparatus Source: UniProtKB
- Golgi cisterna membrane Source: UniProtKB-SubCell
- Golgi membrane Source: Reactome
Other locations
- integral component of membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 30 | CytoplasmicSequence analysisAdd BLAST | 30 | |
Transmembranei | 31 – 51 | Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST | 21 | |
Topological domaini | 52 – 327 | LumenalSequence analysisAdd BLAST | 276 |
Keywords - Cellular componenti
Golgi apparatus, MembranePathology & Biotechi
Involvement in diseasei
Ehlers-Danlos syndrome, spondylodysplastic type, 1 (EDSSPD1)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD1 is an autosomal recessive form characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic features of Ehlers-Danlos syndrome.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010293 | 186 | A → D in EDSSPD1. 1 PublicationCorresponds to variant dbSNP:rs121917817EnsemblClinVar. | 1 | |
Natural variantiVAR_010294 | 206 | L → P in EDSSPD1. 1 PublicationCorresponds to variant dbSNP:rs121917818EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Dwarfism, Ehlers-Danlos syndromeOrganism-specific databases
DisGeNETi | 11285 |
MalaCardsi | B4GALT7 |
MIMi | 130070, phenotype |
OpenTargetsi | ENSG00000027847 |
Orphaneti | 75496, B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome 294049, Reunion Island Larsen-like syndrome |
PharmGKBi | PA25229 |
Miscellaneous databases
Pharosi | Q9UBV7, Tbio |
Genetic variation databases
BioMutai | B4GALT7 |
DMDMi | 13123990 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000080550 | 1 – 327 | Beta-1,4-galactosyltransferase 7Add BLAST | 327 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 154 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 316 ↔ 324 |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
EPDi | Q9UBV7 |
jPOSTi | Q9UBV7 |
MassIVEi | Q9UBV7 |
MaxQBi | Q9UBV7 |
PaxDbi | Q9UBV7 |
PeptideAtlasi | Q9UBV7 |
PRIDEi | Q9UBV7 |
ProteomicsDBi | 84081 |
PTM databases
GlyGeni | Q9UBV7, 1 site |
iPTMneti | Q9UBV7 |
SwissPalmi | Q9UBV7 |
Expressioni
Tissue specificityi
High expression in heart, pancreas and liver, medium in placenta and kidney, low in brain, skeletal muscle and lung.
Gene expression databases
Bgeei | ENSG00000027847, Expressed in left adrenal gland and 216 other tissues |
ExpressionAtlasi | Q9UBV7, baseline and differential |
Genevisiblei | Q9UBV7, HS |
Organism-specific databases
HPAi | ENSG00000027847, Low tissue specificity |
Interactioni
Binary interactionsi
Hide detailsQ9UBV7
Protein-protein interaction databases
BioGRIDi | 116441, 43 interactors |
IntActi | Q9UBV7, 31 interactors |
STRINGi | 9606.ENSP00000029410 |
Miscellaneous databases
RNActi | Q9UBV7, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q9UBV7 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 100 – 104 | UDP-alpha-D-galactose bindingCombined sources1 Publication | 5 | |
Regioni | 139 – 141 | UDP-alpha-D-galactose binding1 Publication | 3 | |
Regioni | 164 – 165 | UDP-alpha-D-galactose bindingCombined sources1 Publication | 2 | |
Regioni | 226 – 229 | N-acetyl-D-glucosamine bindingCurated | 4 | |
Regioni | 257 – 259 | UDP-alpha-D-galactose bindingCombined sources1 Publication | 3 |
Sequence similaritiesi
Belongs to the glycosyltransferase 7 family.Curated
Keywords - Domaini
Signal-anchor, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3917, Eukaryota |
GeneTreei | ENSGT00940000157712 |
HOGENOMi | CLU_044391_5_1_1 |
InParanoidi | Q9UBV7 |
OMAi | FSHIHNR |
OrthoDBi | 1201618at2759 |
PhylomeDBi | Q9UBV7 |
TreeFami | TF312834 |
Family and domain databases
Gene3Di | 3.90.550.10, 1 hit |
InterProi | View protein in InterPro IPR003859, Galactosyl_T IPR027791, Galactosyl_T_C IPR027995, Galactosyl_T_N IPR029044, Nucleotide-diphossugar_trans |
PANTHERi | PTHR19300, PTHR19300, 1 hit |
Pfami | View protein in Pfam PF02709, Glyco_transf_7C, 1 hit PF13733, Glyco_transf_7N, 1 hit |
PRINTSi | PR02050, B14GALTRFASE |
SUPFAMi | SSF53448, SSF53448, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All
Q9UBV7-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MFPSRRKAAQ LPWEDGRSGL LSGGLPRKCS VFHLFVACLS LGFFSLLWLQ
60 70 80 90 100
LSCSGDVARA VRGQGQETSG PPRACPPEPP PEHWEEDASW GPHRLAVLVP
110 120 130 140 150
FRERFEELLV FVPHMRRFLS RKKIRHHIYV LNQVDHFRFN RAALINVGFL
160 170 180 190 200
ESSNSTDYIA MHDVDLLPLN EELDYGFPEA GPFHVASPEL HPLYHYKTYV
210 220 230 240 250
GGILLLSKQH YRLCNGMSNR FWGWGREDDE FYRRIKGAGL QLFRPSGITT
260 270 280 290 300
GYKTFRHLHD PAWRKRDQKR IAAQKQEQFK VDREGGLNTV KYHVASRTAL
310 320
SVGGAPCTVL NIMLDCDKTA TPWCTFS
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketD6RJI5 | D6RJI5_HUMAN | Beta-1,4-galactosyltransferase 7 | B4GALT7 | 170 | Annotation score: | ||
H0Y9D6 | H0Y9D6_HUMAN | Beta-1,4-galactosyltransferase 7 | B4GALT7 | 77 | Annotation score: | ||
D6RA33 | D6RA33_HUMAN | Beta-1,4-galactosyltransferase 7 | B4GALT7 | 42 | Annotation score: | ||
D6RDJ8 | D6RDJ8_HUMAN | Beta-1,4-galactosyltransferase 7 | B4GALT7 | 36 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 147 | V → L in AAF22225 (Ref. 3) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010293 | 186 | A → D in EDSSPD1. 1 PublicationCorresponds to variant dbSNP:rs121917817EnsemblClinVar. | 1 | |
Natural variantiVAR_010294 | 206 | L → P in EDSSPD1. 1 PublicationCorresponds to variant dbSNP:rs121917818EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ005382 mRNA Translation: CAB56424.1 AB028600 mRNA Translation: BAA83414.1 AF142675 mRNA Translation: AAF22225.1 AY358578 mRNA Translation: AAQ88941.1 AK023506 mRNA Translation: BAG51201.1 CH471195 Genomic DNA Translation: EAW84965.1 BC007317 mRNA Translation: AAH07317.1 BC062983 mRNA Translation: AAH62983.1 BC072403 mRNA Translation: AAH72403.1 |
CCDSi | CCDS4429.1 |
RefSeqi | NP_009186.1, NM_007255.2 |
Genome annotation databases
Ensembli | ENST00000029410; ENSP00000029410; ENSG00000027847 |
GeneIDi | 11285 |
KEGGi | hsa:11285 |
UCSCi | uc003mhy.4, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Functional Glycomics Gateway - GTase Beta-1,4-galactosyltransferase 7 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ005382 mRNA Translation: CAB56424.1 AB028600 mRNA Translation: BAA83414.1 AF142675 mRNA Translation: AAF22225.1 AY358578 mRNA Translation: AAQ88941.1 AK023506 mRNA Translation: BAG51201.1 CH471195 Genomic DNA Translation: EAW84965.1 BC007317 mRNA Translation: AAH07317.1 BC062983 mRNA Translation: AAH62983.1 BC072403 mRNA Translation: AAH72403.1 |
CCDSi | CCDS4429.1 |
RefSeqi | NP_009186.1, NM_007255.2 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4IRP | X-ray | 2.10 | A/B | 81-327 | [»] | |
4IRQ | X-ray | 2.30 | A/B/C/D | 81-327 | [»] | |
SMRi | Q9UBV7 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 116441, 43 interactors |
IntActi | Q9UBV7, 31 interactors |
STRINGi | 9606.ENSP00000029410 |
Protein family/group databases
CAZyi | GT7, Glycosyltransferase Family 7 |
PTM databases
GlyGeni | Q9UBV7, 1 site |
iPTMneti | Q9UBV7 |
SwissPalmi | Q9UBV7 |
Genetic variation databases
BioMutai | B4GALT7 |
DMDMi | 13123990 |
Proteomic databases
EPDi | Q9UBV7 |
jPOSTi | Q9UBV7 |
MassIVEi | Q9UBV7 |
MaxQBi | Q9UBV7 |
PaxDbi | Q9UBV7 |
PeptideAtlasi | Q9UBV7 |
PRIDEi | Q9UBV7 |
ProteomicsDBi | 84081 |
Protocols and materials databases
Antibodypediai | 29347, 114 antibodies |
DNASUi | 11285 |
Genome annotation databases
Ensembli | ENST00000029410; ENSP00000029410; ENSG00000027847 |
GeneIDi | 11285 |
KEGGi | hsa:11285 |
UCSCi | uc003mhy.4, human |
Organism-specific databases
CTDi | 11285 |
DisGeNETi | 11285 |
GeneCardsi | B4GALT7 |
HGNCi | HGNC:930, B4GALT7 |
HPAi | ENSG00000027847, Low tissue specificity |
MalaCardsi | B4GALT7 |
MIMi | 130070, phenotype 604327, gene |
neXtProti | NX_Q9UBV7 |
OpenTargetsi | ENSG00000027847 |
Orphaneti | 75496, B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome 294049, Reunion Island Larsen-like syndrome |
PharmGKBi | PA25229 |
VEuPathDBi | HostDB:ENSG00000027847.13 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3917, Eukaryota |
GeneTreei | ENSGT00940000157712 |
HOGENOMi | CLU_044391_5_1_1 |
InParanoidi | Q9UBV7 |
OMAi | FSHIHNR |
OrthoDBi | 1201618at2759 |
PhylomeDBi | Q9UBV7 |
TreeFami | TF312834 |
Enzyme and pathway databases
UniPathwayi | UPA00378 |
BioCyci | MetaCyc:HS00459-MONOMER |
BRENDAi | 2.4.1.133, 2681 |
PathwayCommonsi | Q9UBV7 |
Reactomei | R-HSA-1971475, A tetrasaccharide linker sequence is required for GAG synthesis R-HSA-3560783, Defective B4GALT7 causes EDS, progeroid type |
Miscellaneous databases
BioGRID-ORCSi | 11285, 23 hits in 874 CRISPR screens |
GeneWikii | B4GALT7 |
GenomeRNAii | 11285 |
Pharosi | Q9UBV7, Tbio |
PROi | PR:Q9UBV7 |
RNActi | Q9UBV7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000027847, Expressed in left adrenal gland and 216 other tissues |
ExpressionAtlasi | Q9UBV7, baseline and differential |
Genevisiblei | Q9UBV7, HS |
Family and domain databases
Gene3Di | 3.90.550.10, 1 hit |
InterProi | View protein in InterPro IPR003859, Galactosyl_T IPR027791, Galactosyl_T_C IPR027995, Galactosyl_T_N IPR029044, Nucleotide-diphossugar_trans |
PANTHERi | PTHR19300, PTHR19300, 1 hit |
Pfami | View protein in Pfam PF02709, Glyco_transf_7C, 1 hit PF13733, Glyco_transf_7N, 1 hit |
PRINTSi | PR02050, B14GALTRFASE |
SUPFAMi | SSF53448, SSF53448, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | B4GT7_HUMAN | |
Accessioni | Q9UBV7Primary (citable) accession number: Q9UBV7 Secondary accession number(s): B3KN39, Q9UHN2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 21, 2001 |
Last sequence update: | May 1, 2000 | |
Last modified: | February 10, 2021 | |
This is version 191 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants