Q6Y288 (B3GLT_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Beta-1,3-glucosyltransferase
Short name=Beta3Glc-T
EC=2.4.1.-

Alternative name(s):
Beta-3-glycosyltransferase-like

Gene names

Name:	B3GALTL
Synonyms:	B3GTL

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	498 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	O-fucosyltransferase that transfers glucose toward fucose with a beta-1,3 linkage. Specifically glucosylates O-linked fucosylglycan on TSP type-1 domains of proteins, thereby contributing to elongation of O-fucosylglycan. Ref.2
Pathway	Protein modification; protein glycosylation.
Subcellular location	Endoplasmic reticulum membrane; Single-pass type II membrane protein Ref.2.
Tissue specificity	Widely expressed, with highest levels in testis and uterus. Ref.1 Ref.2
Involvement in disease	Peters-plus syndrome (PpS) [MIM:261540]: Autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate. Note: The disease is caused by mutations affecting the gene represented in this entry.
Sequence similarities	Belongs to the glycosyltransferase 31 family.

Ontologies

Keywords
Biological process	Carbohydrate metabolism Fucose metabolism
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Polymorphism
Disease	Congenital disorder of glycosylation
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	fucose metabolic process Inferred from electronic annotation. Source: UniProtKB-KW protein glycosylation Inferred from electronic annotation. Source: UniProtKB-UniPathway
Cellular_component	endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	transferase activity, transferring glycosyl groups Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 498	498	Beta-1,3-glucosyltransferase		PRO_0000252399
Regions
	Topological domain	1 – 6	6	Cytoplasmic Potential
	Transmembrane	7 – 27	21	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	28 – 498	471	Lumenal Potential
	Motif	495 – 498	4	Prevents secretion from ER
Amino acid modifications
	Glycosylation	336	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	370	1	E → K. Ref.1 Ref.2 Ref.3 Ref.5 Corresponds to variant rs1041073 [ dbSNP | Ensembl ].		VAR_027849
Experimental info
	Mutagenesis	495 – 498	4	Missing: Abolishes endoplasmic reticulum localization. Ref.2
	Sequence conflict	284	1	I → M in AAH68595. Ref.6

Sequences

	Sequence		Length	Mass (Da)
	Q6Y288 [UniParc]. Last modified October 17, 2006. Version 2. Checksum: CDC6A479A1564D48	FASTA	498	56,564
	10 20 30 40 50 60 MRPPACWWLL APPALLALLT CSLAFGLASE DTKKEVKQSQ DLEKSGISRK NDIDLKGIVF 70 80 90 100 110 120 VIQSQSNSFH AKRAEQLKKS ILKQAADLTQ ELPSVLLLHQ LAKQEGAWTI LPLLPHFSVT 130 140 150 160 170 180 YSRNSSWIFF CEEETRIQIP KLLETLRRYD PSKEWFLGKA LHDEEATIIH HYAFSENPTV 190 200 210 220 230 240 FKYPDFAAGW ALSIPLVNKL TKRLKSESLK SDFTIDLKHE IALYIWDKGG GPPLTPVPEF 250 260 270 280 290 300 CTNDVDFYCA TTFHSFLPLC RKPVKKKDIF VAVKTCKKFH GDRIPIVKQT WESQASLIEY 310 320 330 340 350 360 YSDYTENSIP TVDLGIPNTD RGHCGKTFAI LERFLNRSQD KTAWLVIVDD DTLISISRLQ 370 380 390 400 410 420 HLLSCYDSGE PVFLGERYGY GLGTGGYSYI TGGGGMVFSR EAVRRLLASK CRCYSNDAPD 430 440 450 460 470 480 DMVLGMCFSG LGIPVTHSPL FHQARPVDYP KDYLSHQVPI SFHKHWNIDP VKVYFTWLAP 490 SDEDKARQET QKGFREEL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A novel human glycosyltransferase: primary structure and characterization of the gene and transcripts." Heinonen T.Y.K., Pasternack L., Lindfors K., Breton C., Gastinel L.N., Maeki M., Kainulainen H. Biochem. Biophys. Res. Commun. 309:166-174(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANT LYS-370.
[2]	"Molecular cloning and characterization of a novel human beta1,3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain." Sato T., Sato M., Kiyohara K., Sogabe M., Shikanai T., Kikuchi N., Togayachi A., Ishida H., Ito H., Kameyama A., Gotoh M., Narimatsu H. Glycobiology 16:1194-1206(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, ENZYME ACTIVITY, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF 495-ARG--LEU-498, VARIANT LYS-370.
[3]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT LYS-370.
[4]	"The DNA sequence and analysis of human chromosome 13." Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T. Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	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], VARIANT LYS-370.
[6]	"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: Testis.
[7]	"Peters plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase." Lesnik Oberstein S.A., Kriek M., White S.J., Kalf M.E., Szuhai K., den Dunnen J.T., Breuning M.H., Hennekam R.C.M. Am. J. Hum. Genet. 79:562-566(2006) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN PPS.
+	Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY190526 mRNA. Translation: AAO37647.1. AB101481 mRNA. Translation: BAD13528.1. AK291273 mRNA. Translation: BAF83962.1. AL137142, AL138965 Genomic DNA. Translation: CAI12432.2. AL138965, AL137142 Genomic DNA. Translation: CAH73049.2. CH471075 Genomic DNA. Translation: EAX08483.1. BC068595 mRNA. Translation: AAH68595.1.
IPI	IPI00375600.
RefSeq	NP_919299.3. NM_194318.3.
UniGene	Hs.13205.
3D structure databases
ProteinModelPortal	Q6Y288.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000343002.
Protein family/group databases
CAZy	GT31. Glycosyltransferase Family 31.
PTM databases
PhosphoSite	Q6Y288.
Polymorphism databases
DMDM	116243011.
Proteomic databases
PaxDb	Q6Y288.
PRIDE	Q6Y288.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000343307; ENSP00000343002; ENSG00000187676.
GeneID	145173.
KEGG	hsa:145173.
UCSC	uc010aaz.3. human.
Organism-specific databases
CTD	145173.
GeneCards	GC13P031774.
H-InvDB	HIX0011217.
HGNC	HGNC:20207. B3GALTL.
HPA	HPA017664.
MIM	261540. phenotype. 610308. gene.
neXtProt	NX_Q6Y288.
Orphanet	709. Peters-plus syndrome.
PharmGKB	PA144596515.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG150034.
HOGENOM	HOG000007375.
HOVERGEN	HBG059386.
InParanoid	Q6Y288.
KO	K13675.
OMA	GGYSYVT.
OrthoDB	EOG4Q2DFR.
PhylomeDB	Q6Y288.
Enzyme and pathway databases
UniPathway	UPA00378.
Gene expression databases
Bgee	Q6Y288.
CleanEx	HS_B3GALTL.
Genevestigator	Q6Y288.
GermOnline	ENSG00000187676. Homo sapiens.
Family and domain databases
InterPro	IPR003378. Fringe-like. [Graphical view]
Pfam	PF02434. Fringe. 2 hits. [Graphical view]
PROSITE	PS00014. ER_TARGET. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	145173.
NextBio	85032.
SOURCE	Search...

Entry information

Entry name

B3GLT_HUMAN

Accession

Primary (citable) accession number: Q6Y288
Secondary accession number(s): A8K5F8, Q5W0H2, Q6NUI3

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 17, 2006
Last sequence update:	October 17, 2006
Last modified:	May 1, 2013
This is version 76 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.