Reviewed, UniProtKB/Swiss-Prot Q9UBV7 (B4GT7_HUMAN)

Names and origin

Protein names

Recommended 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-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7
    UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7
Including the following 1 domains:
    1- Recommended name:
            Xylosylprotein 4-beta-galactosyltransferase
              EC=2.4.1.133
        Alternative name(s):
            UDP-galactose:beta-xylose beta-1,4-galactosyltransferase
            Xylosylprotein beta-1,4-galactosyltransferase
            XGPT
            Proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I
            XGalT-1

Gene names

Name:	B4GALT7
Synonyms:	XGALT1
ORF Names:	UNQ748/PRO1478

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	327 AA.
Sequence status	Complete.
Protein existence	Evidence 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.
Catalytic activity	UDP-galactose + O-beta-D-xylosylprotein = UDP + 4-beta-D-galactosyl-O-beta-D-xylosylprotein.
Cofactor	Manganese.
Pathway	Protein modification; protein glycosylation.
Subcellular location	Golgi apparatus › Golgi 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	Defects in B4GALT7 are the cause of Ehlers-Danlos syndrome progeroid type (EDSP) [MIM:130070]. EDSP is 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. Ref.8
Sequence similarities	Belongs to the glycosyltransferase 7 family.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Disease	Disease mutation Ehlers-Danlos syndrome
Domain	Signal-anchor Transmembrane
Ligand	Manganese Metal-binding
Molecular function	Glycosyltransferase Transferase
PTM	Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	fibril organization Inferred from mutant phenotype. Source: UniProtKB glycosaminoglycan biosynthetic process Ref.2 Inferred from direct assay. Source: UniProtKB negative regulation of fibroblast proliferation Inferred from mutant phenotype. Source: UniProtKB protein modification process Ref.1 Traceable author statement. Source: ProtInc proteoglycan metabolic process Ref.1 Inferred from mutant phenotype. Source: UniProtKB
Cellular component	Golgi apparatus Ref.8 Inferred from direct assay. Source: UniProtKB integral to membrane Ref.2 Inferred from direct assay. Source: UniProtKB
Molecular function	manganese ion binding Inferred from electronic annotation. Source: UniProtKB-KW xylosylprotein 4-beta-galactosyltransferase activity Ref.2 Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 327	327	Beta-1,4-galactosyltransferase 7		PRO_0000080550
Regions
	Topological domain	1 – 30	30	Cytoplasmic Potential
	Transmembrane	31 – 51	21	Signal-anchor for type II membrane protein Potential
	Topological domain	52 – 327	276	Lumenal Potential
Sites
	Metal binding	165	1	Manganese By similarity
	Metal binding	257	1	Manganese By similarity
Amino acid modifications
	Glycosylation	154	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	186	1	A → D in EDSP. Ref.8		VAR_010293
	Natural variant	206	1	L → P in EDSP. Ref.8		VAR_010294
Experimental info
	Sequence conflict	147	1	V → L in AAF22225. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q9UBV7-1 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 2EDF51A2F8143135	FASTA	327	37,406
	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

References

	« Hide 'large scale' referencesShow '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: 10473568] [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: 10438455] [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. , 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: 12975309] [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. , 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: 14702039] [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. , 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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Pancreas and Skin.
[8]	"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: 10506123] [Abstract] Cited for: VARIANTS EDSP ASP-186 AND PRO-206.
[9]	"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: 10580128] [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.
IPI	IPI00002792.
RefSeq	NP_009186.1.
UniGene	Hs.455109
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q9UBV7.
Protein family/group databases
CAZy	GT7. Glycosyltransferase Family 7.
Proteomic databases
PRIDE	Q9UBV7.
Genome annotation databases
Ensembl	ENST00000029410; ENSP00000029410; ENSG00000027847; Homo sapiens. [Genome view]
GeneID	11285.
KEGG	hsa:11285.
UCSC	uc003mhy.1. human.
Organism-specific databases
CTD	11285.
GeneCards	GC05P176959.
H-InvDB	HIX0005471.
HGNC	HGNC:930. B4GALT7.
MIM	130070. phenotype. 604327. gene.
Orphanet	75496. Ehlers-Danlos syndrome, progeroid type.
PharmGKB	PA25229.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG19403.
HOGENOM	HBG315803.
HOVERGEN	Q9UBV7.
InParanoid	Q9UBV7.
OMA	GWGLEDD.
OrthoDB	EOG9BZQNC.
PhylomeDB	Q9UBV7.
Enzyme and pathway databases
BRENDA	2.4.1.133. 247.
Gene expression databases
ArrayExpress	Q9UBV7.
Bgee	Q9UBV7.
CleanEx	HS_B4GALT7.
Genevestigator	Q9UBV7.
GermOnline	ENSG00000027847. Homo sapiens.
Family and domain databases
InterPro	IPR003859. Galactosyl_T_2. [Graphical view]
PANTHER	PTHR19300. Galactosyl_T_2. 1 hit.
ProtoNet	Search...
Other Resources
NextBio	42963.
SOURCE	Search...

Entry information

Entry name

B4GT7_HUMAN

Accession

Primary (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:	February 9, 2010
This is version 92 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.