O60909 (B4GT2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Beta-1,4-galactosyltransferase 2
Short name=Beta-1,4-GalTase 2
Short name=Beta4Gal-T2
Short name=b4Gal-T2
EC=2.4.1.-

Alternative name(s):
UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 2
UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 2

Including the following 4 domains:

1. Lactose synthase A protein
   EC=2.4.1.22
2. N-acetyllactosamine synthase
   EC=2.4.1.90
   Alternative name(s):
   Nal synthase
3. Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase
   EC=2.4.1.38
4. Beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase
   EC=2.4.1.-

Gene names

Name:

B4GALT2

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	372 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids. Can produce lactose.
Catalytic activity	UDP-alpha-D-galactose + D-glucose = UDP + lactose. UDP-alpha-D-galactose + N-acetyl-beta-D-glucosaminylglycopeptide = UDP + beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminylglycopeptide. UDP-alpha-D-galactose + N-acetyl-D-glucosamine = UDP + N-acetyllactosamine.
Cofactor	Manganese By similarity.
Pathway	Protein modification; protein glycosylation.
Subcellular location	Golgi apparatus › Golgi stack membrane; Single-pass type II membrane protein. Note: Trans cisternae of Golgi stack.
Tissue specificity	Weakly expressed in various tissues. Highest expression in prostate, testis, ovary, intestine, muscle, and in fetal brain.
Sequence similarities	Belongs to the glycosyltransferase 7 family.
Biophysicochemical properties	Kinetic parameters: KM=71 µM for GlcNAc-B-S-pNP Ref.3

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Ligand	Manganese Metal-binding
Molecular function	Glycosyltransferase Transferase
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	keratan sulfate biosynthetic process Traceable author statement. Source: Reactome post-translational protein modification Traceable author statement. Source: Reactome protein N-linked glycosylation via asparagine Traceable author statement. Source: Reactome
Cellular_component	Golgi cisterna membrane Inferred from electronic annotation. Source: UniProtKB-SubCell Golgi membrane Traceable author statement. Source: Reactome integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	N-acetyllactosamine synthase activity Inferred from electronic annotation. Source: EC beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity Inferred from electronic annotation. Source: EC galactosyltransferase activity Traceable author statement Ref.1. Source: ProtInc lactose synthase activity Inferred from electronic annotation. Source: EC metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O60909-1)

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: O60909-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-118: Missing.
     119-119: E → MPSTQLLAAAAAAATAPGPTPPPLAPGSLRSPVPCPVPRLPRCHPVLTRHLVL

Note: No experimental confirmation available.

Isoform 3 (identifier: O60909-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MAVEVQEQWPCLPAAGCPGPLGGPVAACGM

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 372	372	Beta-1,4-galactosyltransferase 2		PRO_0000080533
Regions
	Topological domain	1 – 15	15	Cytoplasmic Potential
	Transmembrane	16 – 36	21	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	37 – 372	336	Lumenal Potential
Sites
	Metal binding	218	1	Manganese By similarity
	Metal binding	311	1	Manganese By similarity
Amino acid modifications
	Glycosylation	66	1	N-linked (GlcNAc...) Potential
	Glycosylation	71	1	N-linked (GlcNAc...) Potential
	Glycosylation	357	1	N-linked (GlcNAc...) Potential
	Disulfide bond	97 ↔ 139		By similarity
	Disulfide bond	211 ↔ 230		By similarity
Natural variations
	Alternative sequence	1 – 118	118	Missing in isoform 2.		VSP_014103
	Alternative sequence	1	1	M → MAVEVQEQWPCLPAAGCPGP LGGPVAACGM in isoform 3.		VSP_043010
	Alternative sequence	119	1	E → MPSTQLLAAAAAAATAPGPT PPPLAPGSLRSPVPCPVPRL PRCHPVLTRHLVL in isoform 2.		VSP_014104
	Natural variant	122	1	Q → H. Ref.7 Corresponds to variant rs1859728 [ dbSNP | Ensembl ].		VAR_020487
	Natural variant	338	1	G → R. Corresponds to variant rs35904809 [ dbSNP | Ensembl ].		VAR_054021
Experimental info
	Sequence conflict	100	1	S → TS Ref.2
	Sequence conflict	136	1	P → S in AAC39733. Ref.2
	Sequence conflict	177	1	G → C in AAC39733. Ref.2
	Sequence conflict	315 – 316	2	KH → ND in AAC39733. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified August 1, 1998. Version 1. Checksum: A6F7800251AA1E4F	FASTA	372	41,972
	10 20 30 40 50 60 MSRLLGGTLE RVCKAVLLLC LLHFLVAVIL YFDVYAQHLA FFSRFSARGP AHALHPAASS 70 80 90 100 110 120 SSSSSNCSRP NATASSSGLP EVPSALPGPT APTLPPCPDS PPGLVGRLLI EFTSPMPLER 130 140 150 160 170 180 VQRENPGVLM GGRYTPPDCT PAQTVAVIIP FRHREHHLRY WLHYLHPILR RQRLRYGVYV 190 200 210 220 230 240 INQHGEDTFN RAKLLNVGFL EALKEDAAYD CFIFSDVDLV PMDDRNLYRC GDQPRHFAIA 250 260 270 280 290 300 MDKFGFRLPY AGYFGGVSGL SKAQFLRING FPNEYWGWGG EDDDIFNRIS LTGMKISRPD 310 320 330 340 350 360 IRIGRYRMIK HDRDKHNEPN PQRFTKIQNT KLTMKRDGIG SVRYQVLEVS RQPLFTNITV 370 DIGRPPSWPP RG
	Isoform 2 [UniParc]. Checksum: A483868104528A2B	FASTA	306	34,883
	10 20 30 40 50 60 MPSTQLLAAA AAAATAPGPT PPPLAPGSLR SPVPCPVPRL PRCHPVLTRH LVLRVQRENP 70 80 90 100 110 120 GVLMGGRYTP PDCTPAQTVA VIIPFRHREH HLRYWLHYLH PILRRQRLRY GVYVINQHGE 130 140 150 160 170 180 DTFNRAKLLN VGFLEALKED AAYDCFIFSD VDLVPMDDRN LYRCGDQPRH FAIAMDKFGF 190 200 210 220 230 240 RLPYAGYFGG VSGLSKAQFL RINGFPNEYW GWGGEDDDIF NRISLTGMKI SRPDIRIGRY 250 260 270 280 290 300 RMIKHDRDKH NEPNPQRFTK IQNTKLTMKR DGIGSVRYQV LEVSRQPLFT NITVDIGRPP SWPPRG
	Isoform 3 [UniParc]. Checksum: 70B4877C779850C1	FASTA	401	44,764
	10 20 30 40 50 60 MAVEVQEQWP CLPAAGCPGP LGGPVAACGM SRLLGGTLER VCKAVLLLCL LHFLVAVILY 70 80 90 100 110 120 FDVYAQHLAF FSRFSARGPA HALHPAASSS SSSSNCSRPN ATASSSGLPE VPSALPGPTA 130 140 150 160 170 180 PTLPPCPDSP PGLVGRLLIE FTSPMPLERV QRENPGVLMG GRYTPPDCTP AQTVAVIIPF 190 200 210 220 230 240 RHREHHLRYW LHYLHPILRR QRLRYGVYVI NQHGEDTFNR AKLLNVGFLE ALKEDAAYDC 250 260 270 280 290 300 FIFSDVDLVP MDDRNLYRCG DQPRHFAIAM DKFGFRLPYA GYFGGVSGLS KAQFLRINGF 310 320 330 340 350 360 PNEYWGWGGE DDDIFNRISL TGMKISRPDI RIGRYRMIKH DRDKHNEPNP QRFTKIQNTK 370 380 390 400 LTMKRDGIGS VRYQVLEVSR QPLFTNITVD IGRPPSWPPR G

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A family of human beta4-galactosyltransferases. Cloning and expression of two novel UDP-galactose:beta-n-acetylglucosamine beta1, 4-galactosyltransferases, beta4Gal-T2 and beta4Gal-T3." Almeida R., Amado M., David L., Levery S.B., Holmes E.H., Merkx G., van Kessel A.G., Rygaard E., Hassan H., Bennett E., Clausen H. J. Biol. Chem. 272:31979-31991(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"The expanding beta 4-galactosyltransferase gene family: messages from the databanks." Lo N.-W., Shaper J.H., Pevsner J., Shaper N.L. Glycobiology 8:517-526(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]	"Galactosylation of N-linked oligosaccharides by human beta-1,4-galactosyltransferases I, II, III, IV, V, and VI expressed in Sf-9 cells." Guo S., Sato T., Shirane K., Furukawa K. Glycobiology 11:813-820(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), BIOPHYSICOCHEMICAL PROPERTIES. Tissue: Erythroleukemia.
[4]	"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] (ISOFORMS 1 AND 3).
[5]	"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].
[6]	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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"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] (ISOFORM 1), VARIANT HIS-122. Tissue: Chondrosarcoma.
[8]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 149-372 (ISOFORMS 1/2). Tissue: Uterus.
[9]	"Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions." Amado M., Almeida R., Schwientek T., Clausen H. Biochim. Biophys. Acta 1473:35-53(1999) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW.
+	Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Beta-1,4-galactosyltransferase 2

Cross-references

Sequence databases
EMBL GenBank DDBJ	Y12510 mRNA. Translation: CAA73112.1. AF038660 mRNA. Translation: AAC39733.1. AB024434 mRNA. Translation: BAA75819.1. AK095873 mRNA. Translation: BAG53152.1. AK293418 mRNA. Translation: BAG56925.1. AL139220, AL357079 Genomic DNA. Translation: CAI19431.1. AL139220, AL357079 Genomic DNA. Translation: CAI19432.1. AL357079, AL139220 Genomic DNA. Translation: CAI16802.1. AL357079, AL139220 Genomic DNA. Translation: CAI16803.1. CH471059 Genomic DNA. Translation: EAX07062.1. CH471059 Genomic DNA. Translation: EAX07063.1. CH471059 Genomic DNA. Translation: EAX07064.1. CH471059 Genomic DNA. Translation: EAX07065.1. BC096821 mRNA. Translation: AAH96821.1. AL137647 mRNA. Translation: CAB70857.1.
IPI	IPI00033031. IPI00386793. IPI00941315.
PIR	T46511.
RefSeq	NP_001005417.1. NM_001005417.2. NP_003771.1. NM_003780.4. NP_085076.2. NM_030587.2.
UniGene	Hs.632403. Hs.736507.
3D structure databases
ProteinModelPortal	O60909.
ModBase	Search...
Protein-protein interaction databases
IntAct	O60909. 1 interaction.
STRING	9606.ENSP00000349293.
Protein family/group databases
CAZy	GT7. Glycosyltransferase Family 7.
PTM databases
PhosphoSite	O60909.
Proteomic databases
PaxDb	O60909.
PRIDE	O60909.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000309519; ENSP00000310696; ENSG00000117411. ENST00000356836; ENSP00000349293; ENSG00000117411. ENST00000372324; ENSP00000361399; ENSG00000117411. ENST00000434555; ENSP00000407468; ENSG00000117411.
GeneID	8704.
KEGG	hsa:8704.
UCSC	uc001clg.3. human. uc001clh.3. human. uc010okl.2. human.
Organism-specific databases
CTD	8704.
GeneCards	GC01P044444.
HGNC	HGNC:925. B4GALT2.
HPA	HPA047739.
MIM	604013. gene.
neXtProt	NX_O60909.
PharmGKB	PA25224.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG327897.
HOGENOM	HOG000231027.
HOVERGEN	HBG058334.
InParanoid	O60909.
KO	K07967.
OMA	TNCSRPN.
OrthoDB	EOG4B2SXC.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism. REACT_116125. Disease. REACT_17015. Metabolism of proteins.
UniPathway	UPA00378.
Gene expression databases
ArrayExpress	O60909.
Bgee	O60909.
CleanEx	HS_B4GALT2.
Genevestigator	O60909.
GermOnline	ENSG00000117411. Homo sapiens.
Family and domain databases
InterPro	IPR003859. Galactosyl_T_2_met. [Graphical view]
PANTHER	PTHR19300. PTHR19300. 1 hit.
Pfam	PF02709. Glyco_transf_7C. 1 hit. [Graphical view]
PRINTS	PR02050. B14GALTRFASE.
ProtoNet	Search...
Other
DrugBank	DB00141. N-Acetyl-D-glucosamine.
GenomeRNAi	8704.
NextBio	32635.
SOURCE	Search...

Entry information

Entry name

B4GT2_HUMAN

Accession

Primary (citable) accession number: O60909
Secondary accession number(s): B3KTP0 , B4DE14, D3DPY6, D3DPY7, O60511, Q4V9L9, Q5T4X5, Q5T4Y5, Q9BUP6, Q9NSY7

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
Last sequence update:	August 1, 1998
Last modified:	May 29, 2013
This is version 122 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.