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Q8NCR0

- B3GL2_HUMAN

UniProt

Q8NCR0 - B3GL2_HUMAN

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Protein

UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2

Gene

B3GALNT2

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

Functioni

Beta-1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAc-beta-1-3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyl transferase activity toward any acceptor substrate. Involved in alpha-dystroglycan (DAG1) glycosylation: acts coordinately with GTDC2/POMGnT2 to synthesize a GalNAc-beta3-GlcNAc-beta-terminus at the 4-position of protein O-mannose in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan, which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.3 Publications

Catalytic activityi

UDP-N-acetyl-alpha-D-galactosamine + N-acetyl-beta-D-glucosaminyl-(1->4)-O-alpha-D-mannosylprotein = UDP + N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-O-alpha-D-mannosylprotein.1 Publication

Kineticsi

  1. KM=5.4 µM for UDP-GalNAc1 Publication
  2. KM=11 mM for GlcNAc-beta-Bn1 Publication

Pathwayi

GO - Molecular functioni

  1. acetylgalactosaminyltransferase activity Source: UniProtKB
  2. acetylglucosaminyltransferase activity Source: UniProtKB
  3. galactosyltransferase activity Source: InterPro

GO - Biological processi

  1. protein glycosylation Source: UniProtKB
  2. protein O-linked glycosylation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Enzyme and pathway databases

SABIO-RKQ8NCR0.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT31. Glycosyltransferase Family 31.

Names & Taxonomyi

Protein namesi
Recommended name:
UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 (EC:2.4.1.-)
Short name:
Beta-1,3-GalNAc-T2
Alternative name(s):
Beta-1,3-N-acetylgalactosaminyltransferase II
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:28596. B3GALNT2.

Subcellular locationi

Golgi apparatus membrane By similarity; Single-pass type II membrane protein By similarity. Endoplasmic reticulum 1 Publication

GO - Cellular componenti

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

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti247 – 2471G → E in MDDGA11; affects subcellular localization. 1 Publication
VAR_069638
Natural varianti252 – 2521V → G in MDDGA11. 1 Publication
VAR_069639
Natural varianti268 – 2681V → M in MDDGA11; affects subcellular localization. 1 Publication
VAR_069640
Natural varianti292 – 2921R → P in MDDGA11; does not affect subcellular localization. 1 Publication
VAR_069641

Keywords - Diseasei

Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Lissencephaly

Organism-specific databases

MIMi615181. phenotype.
Orphaneti588. Muscle-eye-brain disease.
899. Walker-Warburg syndrome.
PharmGKBiPA142672567.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 500500UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2PRO_0000248362Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi116 – 1161N-linked (GlcNAc...)Sequence Analysis
Glycosylationi174 – 1741N-linked (GlcNAc...)Sequence Analysis

Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ8NCR0.
PaxDbiQ8NCR0.
PRIDEiQ8NCR0.

PTM databases

PhosphoSiteiQ8NCR0.

Expressioni

Tissue specificityi

Expressed in all tissues examined, but at highest levels in testis, adipose tissue, skeletal muscle and ovary.1 Publication

Gene expression databases

BgeeiQ8NCR0.
CleanExiHS_B3GALNT2.
ExpressionAtlasiQ8NCR0. baseline and differential.
GenevestigatoriQ8NCR0.

Organism-specific databases

HPAiHPA012502.

Interactioni

Protein-protein interaction databases

BioGridi127169. 9 interactions.
STRINGi9606.ENSP00000355559.

Structurei

3D structure databases

ProteinModelPortaliQ8NCR0.
SMRiQ8NCR0. Positions 51-77.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 66CytoplasmicSequence Analysis
Topological domaini24 – 500477LumenalSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei7 – 2317Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 31 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG274138.
GeneTreeiENSGT00530000063810.
HOGENOMiHOG000293391.
HOVERGENiHBG080884.
InParanoidiQ8NCR0.
KOiK09654.
OMAiFYRWTVE.
OrthoDBiEOG7PK8Z9.
PhylomeDBiQ8NCR0.
TreeFamiTF314311.

Family and domain databases

InterProiIPR002659. Glyco_trans_31.
[Graphical view]
PANTHERiPTHR11214. PTHR11214. 1 hit.
PfamiPF01762. Galactosyl_T. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8NCR0-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRNWLVLLCP CVLGAALHLW LRLRSPPPAC ASGAGPADQL ALFPQWKSTH
60 70 80 90 100
YDVVVGVLSA RNNHELRNVI RSTWMRHLLQ HPTLSQRVLV KFIIGAHGCE
110 120 130 140 150
VPVEDREDPY SCKLLNITNP VLNQEIEAFS LSEDTSSGLP EDRVVSVSFR
160 170 180 190 200
VLYPIVITSL GVFYDANDVG FQRNITVKLY QAEQEEALFI ARFSPPSCGV
210 220 230 240 250
QVNKLWYKPV EQFILPESFE GTIVWESQDL HGLVSRNLHK VTVNDGGGVL
260 270 280 290 300
RVITAGEGAL PHEFLEGVEG VAGGFIYTIQ EGDALLHNLH SRPQRLIDHI
310 320 330 340 350
RNLHEEDALL KEESSIYDDI VFVDVVDTYR NVPAKLLNFY RWTVETTSFN
360 370 380 390 400
LLLKTDDDCY IDLEAVFNRI VQKNLDGPNF WWGNFRLNWA VDRTGKWQEL
410 420 430 440 450
EYPSPAYPAF ACGSGYVISK DIVKWLASNS GRLKTYQGED VSMGIWMAAI
460 470 480 490 500
GPKRYQDSLW LCEKTCETGM LSSPQYSPWE LTELWKLKER CGDPCRCQAR
Length:500
Mass (Da):56,704
Last modified:October 1, 2002 - v1
Checksum:iF346C95857886026
GO
Isoform 2 (identifier: Q8NCR0-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     37-37: A → AGGVSLLLPRLECNGAVSAHPNLHLPGSRDSPASASQVAGIT
     281-285: EGDAL → GKFAS
     286-500: Missing.

Note: No experimental confirmation available.

Show »
Length:326
Mass (Da):35,649
Checksum:iDF1129745F801D9D
GO

Sequence cautioni

The sequence AAH16974.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti203 – 2031N → S in a breast cancer sample; somatic mutation. 1 Publication
VAR_035860
Natural varianti247 – 2471G → E in MDDGA11; affects subcellular localization. 1 Publication
VAR_069638
Natural varianti252 – 2521V → G in MDDGA11. 1 Publication
VAR_069639
Natural varianti268 – 2681V → M in MDDGA11; affects subcellular localization. 1 Publication
VAR_069640
Natural varianti292 – 2921R → P in MDDGA11; does not affect subcellular localization. 1 Publication
VAR_069641

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei37 – 371A → AGGVSLLLPRLECNGAVSAH PNLHLPGSRDSPASASQVAG IT in isoform 2. 1 PublicationVSP_020250
Alternative sequencei281 – 2855EGDAL → GKFAS in isoform 2. 1 PublicationVSP_020251
Alternative sequencei286 – 500215Missing in isoform 2. 1 PublicationVSP_020252Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AL135928 Genomic DNA. Translation: CAI21727.1.
AL135928 Genomic DNA. Translation: CAI21728.1.
BC016974 mRNA. Translation: AAH16974.1. Different initiation.
BC029564 mRNA. Translation: AAH29564.1.
AB209046 mRNA. Translation: BAD92283.1.
CCDSiCCDS1606.1. [Q8NCR0-1]
CCDS60453.1. [Q8NCR0-2]
RefSeqiNP_001264084.1. NM_001277155.2. [Q8NCR0-2]
NP_689703.1. NM_152490.4. [Q8NCR0-1]
UniGeneiHs.498143.

Genome annotation databases

EnsembliENST00000313984; ENSP00000315678; ENSG00000162885. [Q8NCR0-2]
ENST00000366600; ENSP00000355559; ENSG00000162885. [Q8NCR0-1]
GeneIDi148789.
KEGGihsa:148789.
UCSCiuc001hxc.3. human. [Q8NCR0-1]
uc001hxd.2. human. [Q8NCR0-2]

Polymorphism databases

DMDMi74751196.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

GGDB

GlycoGene database

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AL135928 Genomic DNA. Translation: CAI21727.1 .
AL135928 Genomic DNA. Translation: CAI21728.1 .
BC016974 mRNA. Translation: AAH16974.1 . Different initiation.
BC029564 mRNA. Translation: AAH29564.1 .
AB209046 mRNA. Translation: BAD92283.1 .
CCDSi CCDS1606.1. [Q8NCR0-1 ]
CCDS60453.1. [Q8NCR0-2 ]
RefSeqi NP_001264084.1. NM_001277155.2. [Q8NCR0-2 ]
NP_689703.1. NM_152490.4. [Q8NCR0-1 ]
UniGenei Hs.498143.

3D structure databases

ProteinModelPortali Q8NCR0.
SMRi Q8NCR0. Positions 51-77.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127169. 9 interactions.
STRINGi 9606.ENSP00000355559.

Protein family/group databases

CAZyi GT31. Glycosyltransferase Family 31.

PTM databases

PhosphoSitei Q8NCR0.

Polymorphism databases

DMDMi 74751196.

Proteomic databases

MaxQBi Q8NCR0.
PaxDbi Q8NCR0.
PRIDEi Q8NCR0.

Protocols and materials databases

DNASUi 148789.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000313984 ; ENSP00000315678 ; ENSG00000162885 . [Q8NCR0-2 ]
ENST00000366600 ; ENSP00000355559 ; ENSG00000162885 . [Q8NCR0-1 ]
GeneIDi 148789.
KEGGi hsa:148789.
UCSCi uc001hxc.3. human. [Q8NCR0-1 ]
uc001hxd.2. human. [Q8NCR0-2 ]

Organism-specific databases

CTDi 148789.
GeneCardsi GC01M235613.
HGNCi HGNC:28596. B3GALNT2.
HPAi HPA012502.
MIMi 610194. gene.
615181. phenotype.
neXtProti NX_Q8NCR0.
Orphaneti 588. Muscle-eye-brain disease.
899. Walker-Warburg syndrome.
PharmGKBi PA142672567.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG274138.
GeneTreei ENSGT00530000063810.
HOGENOMi HOG000293391.
HOVERGENi HBG080884.
InParanoidi Q8NCR0.
KOi K09654.
OMAi FYRWTVE.
OrthoDBi EOG7PK8Z9.
PhylomeDBi Q8NCR0.
TreeFami TF314311.

Enzyme and pathway databases

UniPathwayi UPA00378 .
SABIO-RK Q8NCR0.

Miscellaneous databases

GenomeRNAii 148789.
NextBioi 86001.
PROi Q8NCR0.
SOURCEi Search...

Gene expression databases

Bgeei Q8NCR0.
CleanExi HS_B3GALNT2.
ExpressionAtlasi Q8NCR0. baseline and differential.
Genevestigatori Q8NCR0.

Family and domain databases

InterProi IPR002659. Glyco_trans_31.
[Graphical view ]
PANTHERi PTHR11214. PTHR11214. 1 hit.
Pfami PF01762. Galactosyl_T. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "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] (ISOFORMS 1 AND 2).
    Tissue: Mammary gland and Testis.
  3. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
    Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 74-500 (ISOFORM 1).
    Tissue: Brain.
  4. "A novel human beta1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAcbeta1-3GlcNAc."
    Hiruma T., Togayachi A., Okamura K., Sato T., Kikuchi N., Kwon Y.D., Nakamura A., Fujimura K., Gotoh M., Tachibana K., Ishizuka Y., Noce T., Nakanishi H., Narimatsu H.
    J. Biol. Chem. 279:14087-14095(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES, GLYCOSYLATION, TISSUE SPECIFICITY.
  5. Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANTS MDDGA11 GLU-247; GLY-252; MET-268 AND PRO-292, CHARACTERIZATION OF VARIANTS MDDGA11 GLU-247; MET-268 AND PRO-292.
  6. "SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function."
    Yoshida-Moriguchi T., Willer T., Anderson M.E., Venzke D., Whyte T., Muntoni F., Lee H., Nelson S.F., Yu L., Campbell K.P.
    Science 341:896-899(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, CATALYTIC ACTIVITY.
  7. Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-203.

Entry informationi

Entry nameiB3GL2_HUMAN
AccessioniPrimary (citable) accession number: Q8NCR0
Secondary accession number(s): Q59GR3, Q5TCI3, Q96AL7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: October 1, 2002
Last modified: October 29, 2014
This is version 98 of the entry and version 1 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 1
    Human chromosome 1: 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