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Protein

Beta-1,4-galactosyltransferase 7

Gene

B4GALT7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.1 Publication

Catalytic activityi

UDP-alpha-D-galactose + O-beta-D-xylosyl-[protein] = UDP + 4-beta-D-galactosyl-O-beta-D-xylosyl-[protein].1 Publication

Cofactori

Mn2+1 Publication

Pathwayi: protein glycosylation

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 keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi165ManganeseCombined sources1 Publication1
Binding sitei194UDP-alpha-D-galactoseCombined sources1 Publication1
Binding sitei224UDP-alpha-D-galactoseCombined sources1 Publication1
Metal bindingi257Manganese; via tele nitrogenCombined sources1 Publication1
Binding sitei266UDP-alpha-D-galactoseCombined sources1 Publication1

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 functionGlycosyltransferase, Transferase
LigandManganese, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS00459-MONOMER
BRENDAi2.4.1.133 2681
ReactomeiR-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis
R-HSA-3560783 Defective B4GALT7 causes EDS, progeroid type
UniPathwayiUPA00378

Protein family/group databases

CAZyiGT7 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):
UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7
UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7
Including the following 1 domains:
Xylosylprotein 4-beta-galactosyltransferase (EC:2.4.1.133)
Alternative name(s):
Proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I
UDP-galactose:beta-xylose beta-1,4-galactosyltransferase
XGPT
XGalT-1
Xylosylprotein beta-1,4-galactosyltransferase
Gene namesi
Name:B4GALT7
Synonyms:XGALT1
ORF Names:UNQ748/PRO1478
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000027847.13
HGNCiHGNC:930 B4GALT7
MIMi604327 gene
neXtProtiNX_Q9UBV7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 30CytoplasmicSequence analysisAdd BLAST30
Transmembranei31 – 51Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini52 – 327LumenalSequence analysisAdd BLAST276

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Ehlers-Danlos syndrome with short stature and limb anomalies (EDSSLA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA variant form of Ehlers-Danlos syndrome characterized by short stature, skin hyperextensibility, moderate skin fragility, joint hypermobility principally in digits, developmental anomalies of the forearm bones and elbow, and bowing of extremities.
See also OMIM:130070
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010293186A → D in EDSSLA. 1 PublicationCorresponds to variant dbSNP:rs121917817EnsemblClinVar.1
Natural variantiVAR_010294206L → P in EDSSLA. 1 PublicationCorresponds to variant dbSNP:rs121917818EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Ehlers-Danlos syndrome

Organism-specific databases

DisGeNETi11285
MalaCardsiB4GALT7
MIMi130070 phenotype
OpenTargetsiENSG00000027847
Orphaneti75496 Ehlers-Danlos syndrome, progeroid type
294049 Reunion Island's Larsen syndrome
PharmGKBiPA25229

Polymorphism and mutation databases

BioMutaiB4GALT7
DMDMi13123990

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000805501 – 327Beta-1,4-galactosyltransferase 7Add BLAST327

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi154N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi316 ↔ 324

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ9UBV7
MaxQBiQ9UBV7
PaxDbiQ9UBV7
PeptideAtlasiQ9UBV7
PRIDEiQ9UBV7
ProteomicsDBi84081

PTM databases

SwissPalmiQ9UBV7

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

BgeeiENSG00000027847
CleanExiHS_B4GALT7
ExpressionAtlasiQ9UBV7 baseline and differential
GenevisibleiQ9UBV7 HS

Organism-specific databases

HPAiHPA042330

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi116441, 36 interactors
IntActiQ9UBV7, 19 interactors
STRINGi9606.ENSP00000029410

Structurei

Secondary structure

1327
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi82 – 84Combined sources3
Helixi88 – 90Combined sources3
Beta strandi95 – 103Combined sources9
Helixi105 – 121Combined sources17
Beta strandi126 – 133Combined sources8
Beta strandi135 – 137Combined sources3
Helixi141 – 151Combined sources11
Beta strandi158 – 162Combined sources5
Beta strandi166 – 168Combined sources3
Beta strandi183 – 186Combined sources4
Turni188 – 190Combined sources3
Beta strandi191 – 193Combined sources3
Beta strandi202 – 207Combined sources6
Helixi208 – 213Combined sources6
Beta strandi223 – 226Combined sources4
Helixi227 – 237Combined sources11
Helixi251 – 253Combined sources3
Beta strandi254 – 257Combined sources4
Turni261 – 263Combined sources3
Helixi274 – 277Combined sources4
Turni287 – 289Combined sources3
Beta strandi292 – 302Combined sources11
Beta strandi305 – 314Combined sources10
Turni318 – 320Combined sources3
Helixi322 – 325Combined sources4

3D structure databases

ProteinModelPortaliQ9UBV7
SMRiQ9UBV7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni100 – 104UDP-alpha-D-galactose bindingCombined sources1 Publication5
Regioni139 – 141UDP-alpha-D-galactose binding1 Publication3
Regioni164 – 165UDP-alpha-D-galactose bindingCombined sources1 Publication2
Regioni226 – 229N-acetyl-D-glucosamine bindingCurated4
Regioni257 – 259UDP-alpha-D-galactose bindingCombined sources1 Publication3

Sequence similaritiesi

Belongs to the glycosyltransferase 7 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3917 Eukaryota
ENOG410Z0TP LUCA
GeneTreeiENSGT00760000119140
HOGENOMiHOG000286021
HOVERGENiHBG050654
InParanoidiQ9UBV7
KOiK00733
OMAiKAATPWC
OrthoDBiEOG091G0HCH
PhylomeDBiQ9UBV7
TreeFamiTF312834

Family and domain databases

Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR003859 Galactosyl_T
IPR027791 Galactosyl_T_C
IPR027995 Galactosyl_T_N
IPR029044 Nucleotide-diphossugar_trans
PANTHERiPTHR19300 PTHR19300, 1 hit
PfamiView protein in Pfam
PF02709 Glyco_transf_7C, 1 hit
PF13733 Glyco_transf_7N, 1 hit
PRINTSiPR02050 B14GALTRFASE
SUPFAMiSSF53448 SSF53448, 1 hit

Sequencei

Sequence statusi: Complete.

Q9UBV7-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:327
Mass (Da):37,406
Last modified:May 1, 2000 - v1
Checksum:i2EDF51A2F8143135
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti147V → L in AAF22225 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010293186A → D in EDSSLA. 1 PublicationCorresponds to variant dbSNP:rs121917817EnsemblClinVar.1
Natural variantiVAR_010294206L → P in EDSSLA. 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
CCDSiCCDS4429.1
RefSeqiNP_009186.1, NM_007255.2
UniGeneiHs.455109

Genome annotation databases

EnsembliENST00000029410; ENSP00000029410; ENSG00000027847
GeneIDi11285
KEGGihsa:11285
UCSCiuc003mhy.4 human

Similar proteinsi

Entry informationi

Entry nameiB4GT7_HUMAN
AccessioniPrimary (citable) accession number: Q9UBV7
Secondary accession number(s): B3KN39, Q9UHN2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: May 1, 2000
Last modified: July 18, 2018
This is version 173 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

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