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Q9UBV7 (B4GT7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 134. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Beta-1,4-galactosyltransferase 7

Short name=Beta-1,4-GalTase 7
Short name=Beta4Gal-T7
Short name=b4Gal-T7
EC=2.4.1.-
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:

  1. 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 names
Name:B4GALT7
Synonyms:XGALT1
ORF Names:UNQ748/PRO1478
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length327 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts. Ref.8

Catalytic activity

UDP-alpha-D-galactose + O-beta-D-xylosyl-[protein] = UDP + 4-beta-D-galactosyl-O-beta-D-xylosyl-[protein]. Ref.8

Cofactor

Manganese. Ref.8

Pathway

Protein modification; protein glycosylation.

Subcellular location

Golgi apparatusGolgi stack membrane; Single-pass type II membrane protein. Note: Cis cisternae of Golgi stack.

Tissue specificity

High expression in heart, pancreas and liver, medium in placenta and kidney, low in brain, skeletal muscle and lung.

Involvement in disease

Ehlers-Danlos syndrome, progeroid type, 1 (EDSP1) [MIM:130070]: 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Sequence similarities

Belongs to the glycosyltransferase 7 family.

Ontologies

Keywords
   Cellular componentGolgi apparatus
Membrane
   DiseaseDisease mutation
Ehlers-Danlos syndrome
   DomainSignal-anchor
Transmembrane
Transmembrane helix
   LigandManganese
Metal-binding
   Molecular functionGlycosyltransferase
Transferase
   PTMDisulfide bond
Glycoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcarbohydrate metabolic process

Traceable author statement. Source: Reactome

cellular protein modification process

Traceable author statement Ref.1. Source: ProtInc

chondroitin sulfate metabolic process

Traceable author statement. Source: Reactome

extracellular fibril organization

Inferred from mutant phenotype PubMed 16583246. Source: UniProtKB

glycosaminoglycan biosynthetic process

Inferred from direct assay Ref.2. Source: UniProtKB

glycosaminoglycan metabolic process

Traceable author statement. Source: Reactome

negative regulation of fibroblast proliferation

Inferred from mutant phenotype PubMed 16583246. Source: UniProtKB

protein N-linked glycosylation

Inferred from direct assay Ref.8. Source: UniProtKB

proteoglycan metabolic process

Inferred from mutant phenotype PubMed 16583246. Source: UniProtKB

small molecule metabolic process

Traceable author statement. Source: Reactome

   Cellular_componentGolgi apparatus

Inferred from direct assay Ref.9. Source: UniProtKB

Golgi cisterna membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

Golgi membrane

Traceable author statement. Source: Reactome

integral component of membrane

Inferred from direct assay Ref.2. Source: UniProtKB

   Molecular_functionbeta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity

Inferred from direct assay Ref.8. Source: UniProtKB

galactosyltransferase activity

Inferred from direct assay Ref.9. Source: UniProtKB

manganese ion binding

Inferred from direct assay Ref.8. Source: UniProtKB

xylosylprotein 4-beta-galactosyltransferase activity

Inferred from direct assay Ref.2. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 327327Beta-1,4-galactosyltransferase 7
PRO_0000080550

Regions

Topological domain1 – 3030Cytoplasmic Potential
Transmembrane31 – 5121Helical; Signal-anchor for type II membrane protein; Potential
Topological domain52 – 327276Lumenal Potential
Region100 – 1045UDP-alpha-D-galactose binding
Region139 – 1413UDP-alpha-D-galactose binding By similarity
Region164 – 1652UDP-alpha-D-galactose binding
Region226 – 2294N-acetyl-D-glucosamine binding By similarity
Region257 – 2593UDP-alpha-D-galactose binding

Sites

Metal binding1651Manganese
Metal binding2571Manganese; via tele nitrogen
Binding site1941UDP-alpha-D-galactose
Binding site2241UDP-alpha-D-galactose
Binding site2661UDP-alpha-D-galactose

Amino acid modifications

Glycosylation1541N-linked (GlcNAc...) Potential
Disulfide bond316 ↔ 324

Natural variations

Natural variant1861A → D in EDSP1. Ref.9
VAR_010293
Natural variant2061L → P in EDSP1. Ref.9
VAR_010294

Experimental info

Sequence conflict1471V → L in AAF22225. Ref.3

Secondary structure

............................................... 327
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q9UBV7 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: 2EDF51A2F8143135

FASTA32737,406
        10         20         30         40         50         60 
MFPSRRKAAQ LPWEDGRSGL LSGGLPRKCS VFHLFVACLS LGFFSLLWLQ LSCSGDVARA 

        70         80         90        100        110        120 
VRGQGQETSG PPRACPPEPP PEHWEEDASW GPHRLAVLVP FRERFEELLV FVPHMRRFLS 

       130        140        150        160        170        180 
RKKIRHHIYV LNQVDHFRFN RAALINVGFL ESSNSTDYIA MHDVDLLPLN EELDYGFPEA 

       190        200        210        220        230        240 
GPFHVASPEL HPLYHYKTYV GGILLLSKQH YRLCNGMSNR FWGWGREDDE FYRRIKGAGL 

       250        260        270        280        290        300 
QLFRPSGITT GYKTFRHLHD PAWRKRDQKR IAAQKQEQFK VDREGGLNTV KYHVASRTAL 

       310        320 
SVGGAPCTVL NIMLDCDKTA TPWCTFS 

« Hide

References

« Hide 'large scale' references
[1]"Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family."
Almeida R., Levery S.B., Mandel U., Kresse H., Schwientek T., Bennett E.P., Clausen H.
J. Biol. Chem. 274:26165-26171(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"Human homolog of Caenorhabditis elegans sqv-3 gene is galactosyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans."
Okajima T., Yoshida K., Kondo T., Furukawa K.
J. Biol. Chem. 274:22915-22918(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Melanoma.
[3]"Human beta-1,4-galactosyltransferase VII."
Lo N.-W., Shaper N.L., Shaper J.H.
Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[4]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Placenta.
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Pancreas and Skin.
[8]"Crystal structures of beta-1,4-galactosyltransferase 7 enzyme reveal conformational changes and substrate Binding."
Tsutsui Y., Ramakrishnan B., Qasba P.K.
J. Biol. Chem. 288:31963-31970(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF 81-327 IN COMPLEX WITH UDP AND MANGANESE IONS, CATALYTIC ACTIVITY, FUNCTION, COFACTOR.
[9]"Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene."
Okajima T., Fukumoto S., Furukawa K., Urano T.
J. Biol. Chem. 274:28841-28844(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EDSP1 ASP-186 AND PRO-206.
[10]"Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions."
Amado M., Almeida R., Schwientek T., Clausen H.
Biochim. Biophys. Acta 1473:35-53(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
+Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Beta-1,4-galactosyltransferase 7

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_009186.1. NM_007255.2.
UniGeneHs.455109.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
4IRPX-ray2.10A/B81-327[»]
4IRQX-ray2.30A/B/C/D81-327[»]
ProteinModelPortalQ9UBV7.
SMRQ9UBV7. Positions 81-327.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000029410.

Protein family/group databases

CAZyGT7. Glycosyltransferase Family 7.

PTM databases

PhosphoSiteQ9UBV7.

Polymorphism databases

DMDM13123990.

Proteomic databases

PaxDbQ9UBV7.
PRIDEQ9UBV7.

Protocols and materials databases

DNASU11285.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000029410; ENSP00000029410; ENSG00000027847.
GeneID11285.
KEGGhsa:11285.
UCSCuc003mhy.3. human.

Organism-specific databases

CTD11285.
GeneCardsGC05P177027.
HGNCHGNC:930. B4GALT7.
HPAHPA042330.
MIM130070. phenotype.
604327. gene.
neXtProtNX_Q9UBV7.
Orphanet75496. Ehlers-Danlos syndrome, progeroid type.
PharmGKBPA25229.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG305756.
HOGENOMHOG000286021.
HOVERGENHBG050654.
InParanoidQ9UBV7.
KOK00733.
OMAKAATPWC.
OrthoDBEOG7C5M8P.
PhylomeDBQ9UBV7.
TreeFamTF312834.

Enzyme and pathway databases

BioCycMetaCyc:HS00459-MONOMER.
ReactomeREACT_111217. Metabolism.
REACT_116125. Disease.
UniPathwayUPA00378.

Gene expression databases

ArrayExpressQ9UBV7.
BgeeQ9UBV7.
CleanExHS_B4GALT7.
GenevestigatorQ9UBV7.

Family and domain databases

InterProIPR003859. Galactosyl_T.
IPR027791. Galactosyl_T_C.
IPR027995. Galactosyl_T_N.
[Graphical view]
PANTHERPTHR19300. PTHR19300. 1 hit.
PfamPF02709. Glyco_transf_7C. 1 hit.
PF13733. Glyco_transf_7N. 1 hit.
[Graphical view]
PRINTSPR02050. B14GALTRFASE.
ProtoNetSearch...

Other

GeneWikiB4GALT7.
GenomeRNAi11285.
NextBio42963.
PROQ9UBV7.
SOURCESearch...

Entry information

Entry nameB4GT7_HUMAN
AccessionPrimary (citable) accession number: Q9UBV7
Secondary accession number(s): B3KN39, Q9UHN2
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: May 1, 2000
Last modified: April 16, 2014
This is version 134 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM