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Q6Y288

- B3GLT_HUMAN

UniProt

Q6Y288 - B3GLT_HUMAN

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Protein

Beta-1,3-glucosyltransferase

Gene

B3GALTL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

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.1 Publication

Pathwayi

GO - Molecular functioni

  1. transferase activity, transferring glycosyl groups Source: UniProtKB-KW

GO - Biological processi

  1. fucose metabolic process Source: UniProtKB-KW
  2. protein glycosylation Source: UniProtKB-UniPathway
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Biological processi

Carbohydrate metabolism, Fucose metabolism

Enzyme and pathway databases

ReactomeiREACT_200626. O-glycosylation of TSR domain-containing proteins.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT31. Glycosyltransferase Family 31.

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-1,3-glucosyltransferase (EC:2.4.1.-)
Short name:
Beta3Glc-T
Alternative name(s):
Beta-3-glycosyltransferase-like
Gene namesi
Name:B3GALTL
Synonyms:B3GTL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 13

Organism-specific databases

HGNCiHGNC:20207. B3GALTL.

Subcellular locationi

Endoplasmic reticulum membrane 1 PublicationPROSITE-ProRule annotation; Single-pass type II membrane protein 1 Publication

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB-KW
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi495 – 4984Missing: Abolishes endoplasmic reticulum localization. 1 Publication

Keywords - Diseasei

Congenital disorder of glycosylation

Organism-specific databases

MIMi261540. phenotype.
Orphaneti709. Peters plus syndrome.
PharmGKBiPA144596515.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 498498Beta-1,3-glucosyltransferasePRO_0000252399Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi336 – 3361N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ6Y288.
PaxDbiQ6Y288.
PRIDEiQ6Y288.

PTM databases

PhosphoSiteiQ6Y288.

Expressioni

Tissue specificityi

Widely expressed, with highest levels in testis and uterus.2 Publications

Gene expression databases

BgeeiQ6Y288.
CleanExiHS_B3GALTL.
GenevestigatoriQ6Y288.

Organism-specific databases

HPAiHPA017664.

Interactioni

Protein-protein interaction databases

BioGridi126890. 8 interactions.
STRINGi9606.ENSP00000343002.

Structurei

3D structure databases

ProteinModelPortaliQ6Y288.
SMRiQ6Y288. Positions 268-442.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 66CytoplasmicSequence Analysis
Topological domaini28 – 498471LumenalSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei7 – 2721Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi495 – 4984Prevents secretion from ER

Sequence similaritiesi

Belongs to the glycosyltransferase 31 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG150034.
GeneTreeiENSGT00390000000060.
HOGENOMiHOG000007375.
HOVERGENiHBG059386.
InParanoidiQ6Y288.
KOiK13675.
OMAiTGGYSYV.
OrthoDBiEOG75XGMG.
PhylomeDBiQ6Y288.
TreeFamiTF313496.

Family and domain databases

InterProiIPR003378. Fringe-like.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamiPF02434. Fringe. 2 hits.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.
PROSITEiPS00014. ER_TARGET. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q6Y288-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MRPPACWWLL APPALLALLT CSLAFGLASE DTKKEVKQSQ DLEKSGISRK
60 70 80 90 100
NDIDLKGIVF VIQSQSNSFH AKRAEQLKKS ILKQAADLTQ ELPSVLLLHQ
110 120 130 140 150
LAKQEGAWTI LPLLPHFSVT YSRNSSWIFF CEEETRIQIP KLLETLRRYD
160 170 180 190 200
PSKEWFLGKA LHDEEATIIH HYAFSENPTV FKYPDFAAGW ALSIPLVNKL
210 220 230 240 250
TKRLKSESLK SDFTIDLKHE IALYIWDKGG GPPLTPVPEF CTNDVDFYCA
260 270 280 290 300
TTFHSFLPLC RKPVKKKDIF VAVKTCKKFH GDRIPIVKQT WESQASLIEY
310 320 330 340 350
YSDYTENSIP TVDLGIPNTD RGHCGKTFAI LERFLNRSQD KTAWLVIVDD
360 370 380 390 400
DTLISISRLQ HLLSCYDSGE PVFLGERYGY GLGTGGYSYI TGGGGMVFSR
410 420 430 440 450
EAVRRLLASK CRCYSNDAPD DMVLGMCFSG LGIPVTHSPL FHQARPVDYP
460 470 480 490
KDYLSHQVPI SFHKHWNIDP VKVYFTWLAP SDEDKARQET QKGFREEL
Length:498
Mass (Da):56,564
Last modified:October 17, 2006 - v2
Checksum:iCDC6A479A1564D48
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti284 – 2841I → M in AAH68595. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti370 – 3701E → K.4 Publications
Corresponds to variant rs1041073 [ dbSNP | Ensembl ].
VAR_027849

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS9341.1.
RefSeqiNP_919299.3. NM_194318.3.
UniGeneiHs.13205.

Genome annotation databases

EnsembliENST00000343307; ENSP00000343002; ENSG00000187676.
GeneIDi145173.
KEGGihsa:145173.
UCSCiuc010aaz.3. human.

Polymorphism databases

DMDMi116243011.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS9341.1.
RefSeqi NP_919299.3. NM_194318.3.
UniGenei Hs.13205.

3D structure databases

ProteinModelPortali Q6Y288.
SMRi Q6Y288. Positions 268-442.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126890. 8 interactions.
STRINGi 9606.ENSP00000343002.

Protein family/group databases

CAZyi GT31. Glycosyltransferase Family 31.

PTM databases

PhosphoSitei Q6Y288.

Polymorphism databases

DMDMi 116243011.

Proteomic databases

MaxQBi Q6Y288.
PaxDbi Q6Y288.
PRIDEi Q6Y288.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000343307 ; ENSP00000343002 ; ENSG00000187676 .
GeneIDi 145173.
KEGGi hsa:145173.
UCSCi uc010aaz.3. human.

Organism-specific databases

CTDi 145173.
GeneCardsi GC13P031774.
GeneReviewsi B3GALTL.
H-InvDB HIX0011217.
HGNCi HGNC:20207. B3GALTL.
HPAi HPA017664.
MIMi 261540. phenotype.
610308. gene.
neXtProti NX_Q6Y288.
Orphaneti 709. Peters plus syndrome.
PharmGKBi PA144596515.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG150034.
GeneTreei ENSGT00390000000060.
HOGENOMi HOG000007375.
HOVERGENi HBG059386.
InParanoidi Q6Y288.
KOi K13675.
OMAi TGGYSYV.
OrthoDBi EOG75XGMG.
PhylomeDBi Q6Y288.
TreeFami TF313496.

Enzyme and pathway databases

UniPathwayi UPA00378 .
Reactomei REACT_200626. O-glycosylation of TSR domain-containing proteins.

Miscellaneous databases

GeneWikii B3GALTL.
GenomeRNAii 145173.
NextBioi 85032.
PROi Q6Y288.
SOURCEi Search...

Gene expression databases

Bgeei Q6Y288.
CleanExi HS_B3GALTL.
Genevestigatori Q6Y288.

Family and domain databases

InterProi IPR003378. Fringe-like.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view ]
Pfami PF02434. Fringe. 2 hits.
[Graphical view ]
SUPFAMi SSF53448. SSF53448. 1 hit.
PROSITEi PS00014. ER_TARGET. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.

Entry informationi

Entry nameiB3GLT_HUMAN
AccessioniPrimary (citable) accession number: Q6Y288
Secondary accession number(s): A8K5F8, Q5W0H2, Q6NUI3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: October 17, 2006
Last modified: October 29, 2014
This is version 89 of the entry and version 2 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3