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Q6Y288 (B3GLT_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 86. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | 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-1,3-glucosyltransferase

Short name=Beta3Glc-T
EC=2.4.1.-
Alternative name(s):
Beta-3-glycosyltransferase-like
Gene names
Name:B3GALTL
Synonyms:B3GTL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length498 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 498498Beta-1,3-glucosyltransferase
PRO_0000252399

Regions

Topological domain1 – 66Cytoplasmic Potential
Transmembrane7 – 2721Helical; Signal-anchor for type II membrane protein; Potential
Topological domain28 – 498471Lumenal Potential
Motif495 – 4984Prevents secretion from ER

Amino acid modifications

Glycosylation3361N-linked (GlcNAc...) Potential

Natural variations

Natural variant3701E → K. Ref.1 Ref.2 Ref.3 Ref.5
Corresponds to variant rs1041073 [ dbSNP | Ensembl ].
VAR_027849

Experimental info

Mutagenesis495 – 4984Missing: Abolishes endoplasmic reticulum localization. Ref.2
Sequence conflict2841I → M in AAH68595. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Q6Y288 [UniParc].

Last modified October 17, 2006. Version 2.
Checksum: CDC6A479A1564D48

FASTA49856,564
        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 

« Hide

References

« Hide '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. 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], 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. expand/collapse author list , 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. 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], 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

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.
CCDSCCDS9341.1.
RefSeqNP_919299.3. NM_194318.3.
UniGeneHs.13205.

3D structure databases

ProteinModelPortalQ6Y288.
SMRQ6Y288. Positions 268-442.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126890. 1 interaction.
STRING9606.ENSP00000343002.

Protein family/group databases

CAZyGT31. Glycosyltransferase Family 31.

PTM databases

PhosphoSiteQ6Y288.

Polymorphism databases

DMDM116243011.

Proteomic databases

MaxQBQ6Y288.
PaxDbQ6Y288.
PRIDEQ6Y288.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000343307; ENSP00000343002; ENSG00000187676.
GeneID145173.
KEGGhsa:145173.
UCSCuc010aaz.3. human.

Organism-specific databases

CTD145173.
GeneCardsGC13P031774.
GeneReviewsB3GALTL.
H-InvDBHIX0011217.
HGNCHGNC:20207. B3GALTL.
HPAHPA017664.
MIM261540. phenotype.
610308. gene.
neXtProtNX_Q6Y288.
Orphanet709. Peters-plus syndrome.
PharmGKBPA144596515.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG150034.
HOGENOMHOG000007375.
HOVERGENHBG059386.
InParanoidQ6Y288.
KOK13675.
OMATGGYSYV.
OrthoDBEOG75XGMG.
PhylomeDBQ6Y288.
TreeFamTF313496.

Enzyme and pathway databases

ReactomeREACT_17015. Metabolism of proteins.
UniPathwayUPA00378.

Gene expression databases

BgeeQ6Y288.
CleanExHS_B3GALTL.
GenevestigatorQ6Y288.

Family and domain databases

InterProIPR003378. Fringe-like.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamPF02434. Fringe. 2 hits.
[Graphical view]
SUPFAMSSF53448. SSF53448. 1 hit.
PROSITEPS00014. ER_TARGET. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiB3GALTL.
GenomeRNAi145173.
NextBio85032.
PROQ6Y288.
SOURCESearch...

Entry information

Entry nameB3GLT_HUMAN
AccessionPrimary (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: July 9, 2014
This is version 86 of the entry and version 2 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

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 13

Human chromosome 13: entries, gene names and cross-references to MIM