Q8NCR0 (B3GL2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2
Short name=Beta-1,3-GalNAc-T2
EC=2.4.1.-

Alternative name(s):
Beta-1,3-N-acetylgalactosaminyltransferase II

Gene names

Name:

B3GALNT2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	500 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Beta-1,3-N-acetylgalactosaminyltransferase active in synthesizing a unique carbohydrate structure, GalNAc-beta-1-3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyl transferase activity toward any acceptor substrate. Ref.4
Pathway	Protein modification; protein glycosylation.
Subcellular location	Golgi apparatus membrane; Single-pass type II membrane protein By similarity.
Tissue specificity	Expressed in all tissues examined, but at highest levels in testis, adipose tissue, skeletal muscle and ovary. Ref.4
Post-translational modification	N-glycosylated Probable. Ref.4
Sequence similarities	Belongs to the glycosyltransferase 31 family.
Biophysicochemical properties	Kinetic parameters: KM=5.4 µM for UDP-GalNAc Ref.4 KM=11 mM for GlcNAc-beta-Bn
Sequence caution	The sequence AAH16974.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	protein glycosylation Inferred from electronic annotation. Source: InterPro
Cellular component	Golgi membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	galactosyltransferase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8NCR0-1)

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.

Isoform 2 (identifier: Q8NCR0-2)

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.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 500	500	UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2		PRO_0000248362
Regions
	Topological domain	1 – 6	6	Cytoplasmic Potential
	Transmembrane	7 – 23	17	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	24 – 500	477	Lumenal Potential
Amino acid modifications
	Glycosylation	116	1	N-linked (GlcNAc...) Potential
	Glycosylation	174	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	37	1	A → AGGVSLLLPRLECNGAVSAH PNLHLPGSRDSPASASQVAG IT in isoform 2.		VSP_020250
	Alternative sequence	281 – 285	5	EGDAL → GKFAS in isoform 2.		VSP_020251
	Alternative sequence	286 – 500	215	Missing in isoform 2.		VSP_020252
	Natural variant	203	1	N → S in a breast cancer sample; somatic mutation. Ref.5		VAR_035860

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: F346C95857886026	FASTA	500	56,704
	10 20 30 40 50 60 MRNWLVLLCP CVLGAALHLW LRLRSPPPAC ASGAGPADQL ALFPQWKSTH YDVVVGVLSA 70 80 90 100 110 120 RNNHELRNVI RSTWMRHLLQ HPTLSQRVLV KFIIGAHGCE VPVEDREDPY SCKLLNITNP 130 140 150 160 170 180 VLNQEIEAFS LSEDTSSGLP EDRVVSVSFR VLYPIVITSL GVFYDANDVG FQRNITVKLY 190 200 210 220 230 240 QAEQEEALFI ARFSPPSCGV QVNKLWYKPV EQFILPESFE GTIVWESQDL HGLVSRNLHK 250 260 270 280 290 300 VTVNDGGGVL RVITAGEGAL PHEFLEGVEG VAGGFIYTIQ EGDALLHNLH SRPQRLIDHI 310 320 330 340 350 360 RNLHEEDALL KEESSIYDDI VFVDVVDTYR NVPAKLLNFY RWTVETTSFN LLLKTDDDCY 370 380 390 400 410 420 IDLEAVFNRI VQKNLDGPNF WWGNFRLNWA VDRTGKWQEL EYPSPAYPAF ACGSGYVISK 430 440 450 460 470 480 DIVKWLASNS GRLKTYQGED VSMGIWMAAI GPKRYQDSLW LCEKTCETGM LSSPQYSPWE 490 500 LTELWKLKER CGDPCRCQAR
	Isoform 2 [UniParc]. Checksum: DF1129745F801D9D	FASTA	326	35,649
	10 20 30 40 50 60 MRNWLVLLCP CVLGAALHLW LRLRSPPPAC ASGAGPAGGV SLLLPRLECN GAVSAHPNLH 70 80 90 100 110 120 LPGSRDSPAS ASQVAGITDQ LALFPQWKST HYDVVVGVLS ARNNHELRNV IRSTWMRHLL 130 140 150 160 170 180 QHPTLSQRVL VKFIIGAHGC EVPVEDREDP YSCKLLNITN PVLNQEIEAF SLSEDTSSGL 190 200 210 220 230 240 PEDRVVSVSF RVLYPIVITS LGVFYDANDV GFQRNITVKL YQAEQEEALF IARFSPPSCG 250 260 270 280 290 300 VQVNKLWYKP VEQFILPESF EGTIVWESQD LHGLVSRNLH KVTVNDGGGV LRVITAGEGA 310 320 LPHEFLEGVE GVAGGFIYTI QGKFAS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 16710414] [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: 15489334] [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: 14724282] [Abstract] Cited for: FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES, GLYCOSYLATION, TISSUE SPECIFICITY.
[5]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-203.

Web resources

GGDB

GlycoGene database

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00171501. IPI00744286.
RefSeq	NP_689703.1. NM_152490.2.
UniGene	Hs.498143.
3D structure databases
ProteinModelPortal	Q8NCR0.
ModBase	Search...
Protein-protein interaction databases
STRING	Q8NCR0.
Protein family/group databases
CAZy	GT31. Glycosyltransferase Family 31.
Polymorphism databases
DMDM	74751196.
Proteomic databases
PRIDE	Q8NCR0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000366600; ENSP00000355559; ENSG00000162885.
GeneID	148789.
KEGG	hsa:148789.
UCSC	uc001hxc.1. human. uc001hxd.1. human.
Organism-specific databases
CTD	148789.
GeneCards	GC01M235613.
H-InvDB	HIX0001716.
HGNC	HGNC:28596. B3GALNT2.
HPA	HPA012502.
MIM	610194. gene.
neXtProt	NX_Q8NCR0.
PharmGKB	PA142672567.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG10186.
GeneTree	ENSGT00530000063810.
HOVERGEN	HBG080884.
PhylomeDB	Q8NCR0.
Gene expression databases
ArrayExpress	Q8NCR0.
Bgee	Q8NCR0.
CleanEx	HS_B3GALNT2.
Genevestigator	Q8NCR0.
GermOnline	ENSG00000162885. Homo sapiens.
Family and domain databases
InterPro	IPR002659. Glyco_trans_31. [Graphical view]
KO	K09654.
PANTHER	PTHR11214. Glyco_trans_31. 1 hit.
Pfam	PF01762. Galactosyl_T. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	86001.
SOURCE	Search...

Entry information

Entry name

B3GL2_HUMAN

Accession

Primary (citable) accession number: Q8NCR0
Secondary accession number(s): Q59GR3, Q5TCI3, Q96AL7

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 5, 2006
Last sequence update:	October 1, 2002
Last modified:	January 25, 2012
This is version 73 of the entry and version 1 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.