Reviewed, UniProtKB/Swiss-Prot Q8N3Y3 (LARG2_HUMAN)

Names and origin

Protein names

Recommended name:
    Glycosyltransferase-like protein LARGE2
    EC=2.4.-.-
Alternative name(s):
    Glycosyltransferase-like 1B

Gene names

Name:	GYLTL1B
Synonyms:	LARGE2
ORF Names:	PP5656

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	721 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	Glycosyltransferase which participates in glycosylation of alpha-dystroglycan. May carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. Has a higher activity toward alpha-dystroglycan than LARGE. Ref.6 Ref.8
Subcellular location	Golgi apparatus membrane; Single-pass type II membrane protein By similarity.
Tissue specificity	Widely expressed. Expressed at high level in placenta, pancreas and kidney compared to LARGE. Not expressed in brain. Ref.6 Ref.7
Sequence similarities	Belongs to the glycosyltransferase 8 family.
Sequence caution	The sequence AAG23791.1 differs from that shown. Reason: Frameshift at positions 496, 510 and 674.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal-anchor Transmembrane
Molecular function	Glycosyltransferase Transferase
PTM	Glycoprotein
Gene Ontology (GO)
Biological process	muscle maintenance Inferred from sequence or structural similarity. Source: UniProtKB
Cellular component	Golgi membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	transferase activity, transferring glycosyl groups Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q8N3Y3-1)

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: Q8N3Y3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-288: Missing.
     289-293: TSLAD → MGVSA
     536-562: ASIEQLGLGSRRKAALVVPAFETLRYR → EARAGFNSSSTCGCAHPSHQARWPMVV
     563-721: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 721	721	Glycosyltransferase-like protein LARGE2		PRO_0000226811
Regions
	Topological domain	1 – 8	8	Cytoplasmic Potential
	Transmembrane	9 – 29	21	Signal-anchor for type II membrane protein Potential
	Topological domain	30 – 721	692	Lumenal Potential
Amino acid modifications
	Glycosylation	80	1	N-linked (GlcNAc...) Potential
	Glycosylation	107	1	N-linked (GlcNAc...) Potential
	Glycosylation	231	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	1 – 288	288	Missing in isoform 2.		VSP_017483
	Alternative sequence	289 – 293	5	TSLAD → MGVSA in isoform 2.		VSP_017484
	Alternative sequence	536 – 562	27	ASIEQ…TLRYR → EARAGFNSSSTCGCAHPSHQ ARWPMVV in isoform 2.		VSP_017485
	Alternative sequence	563 – 721	159	Missing in isoform 2.		VSP_017486
	Natural variant	37	1	E → K: dbSNP rs17853729. Ref.4		VAR_031854
	Natural variant	546	1	R → W: dbSNP rs11038713.		VAR_031855
	Natural variant	677	1	R → C: dbSNP rs2271851.		VAR_025518
Experimental info
	Sequence conflict	166	1	Q → R in BAC04675. Ref.1
	Sequence conflict	398	1	E → G in BAC03909. Ref.1
	Sequence conflict	473 – 474	2	HF → IS in AAG23791. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 2007. Version 2. Checksum: 7E9E208AAD872344	FASTA	721	81,787
	10 20 30 40 50 60 MLPRGRPRAL GAAALLLLLL LLGFLLFGGD LGCERREPGG RAGAPGCFPG PLMPRVPPDG 70 80 90 100 110 120 RLRRAAALDG DPGAGPGDHN RSDCGPQPPP PPKCELLHVA IVCAGHNSSR DVITLVKSML 130 140 150 160 170 180 FYRKNPLHLH LVTDAVARNI LETLFHTWMV PAVRVSFYHA DQLKPQVSWI PNKHYSGLYG 190 200 210 220 230 240 LMKLVLPSAL PAELARVIVL DTDVTFASDI SELWALFAHF SDTQAIGLVE NQSDWYLGNL 250 260 270 280 290 300 WKNHRPWPAL GRGFNTGVIL LRLDRLRQAG WEQMWRLTAR RELLSLPATS LADQDIFNAV 310 320 330 340 350 360 IKEHPGLVQR LPCVWNVQLS DHTLAERCYS EASDLKVIHW NSPKKLRVKN KHVEFFRNFY 370 380 390 400 410 420 LTFLEYDGNL LRRELFVCPS QPPPGAEQLQ QALAQLDEED PCFEFRQQQL TVHRVHVTFL 430 440 450 460 470 480 PHEPPPPRPH DVTLVAQLSM DRLQMLEALC RHWPGPMSLA LYLTDAEAQQ FLHFVEASPV 490 500 510 520 530 540 LAARQDVAYH VVYREGPLYP VNQLRNVALA QALTPYVFLS DIDFLPAYSL YDYLRASIEQ 550 560 570 580 590 600 LGLGSRRKAA LVVPAFETLR YRFSFPHSKV ELLALLDAGT LYTFRYHEWP RGHAPTDYAR 610 620 630 640 650 660 WREAQAPYRV QWAANYEPYV VVPRDCPRYD PRFVGFGWNK VAHIVELDAQ EYELLVLPEA 670 680 690 700 710 720 FTIHLPHAPS LDISRFRSSP TYRDCLQALK DEFHQDLSRH HGAAALKYLP ALQQPQSPAR G
	Isoform 2. Checksum: 779513D31C159D45	FASTA	274	31,417
	10 20 30 40 50 60 MGVSAQDIFN AVIKEHPGLV QRLPCVWNVQ LSDHTLAERC YSEASDLKVI HWNSPKKLRV 70 80 90 100 110 120 KNKHVEFFRN FYLTFLEYDG NLLRRELFVC PSQPPPGAEQ LQQALAQLDE EDPCFEFRQQ 130 140 150 160 170 180 QLTVHRVHVT FLPHEPPPPR PHDVTLVAQL SMDRLQMLEA LCRHWPGPMS LALYLTDAEA 190 200 210 220 230 240 QQFLHFVEAS PVLAARQDVA YHVVYREGPL YPVNQLRNVA LAQALTPYVF LSDIDFLPAY 250 260 270 SLYDYLREAR AGFNSSSTCG CAHPSHQARW PMVV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Kidney.
[2]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y. Nature 440:497-500(2006) [PubMed: 16554811] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	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].
[4]	"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] (ISOFORM 1), VARIANT LYS-37. Tissue: Brain.
[5]	"Large-scale cDNA transfection screening for genes related to cancer development and progression." Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X. , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J. Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed: 15498874] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 356-721.
[6]	"LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE." Fujimura K., Sawaki H., Sakai T., Hiruma T., Nakanishi N., Sato T., Ohkura T., Narimatsu H. Biochem. Biophys. Res. Commun. 329:1162-1171(2005) [PubMed: 15752776] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY.
[7]	"Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies." Grewal P.K., McLaughlan J.M., Moore C.J., Browning C.A., Hewitt J.E. Glycobiology 15:912-923(2005) [PubMed: 15958417] [Abstract] Cited for: TISSUE SPECIFICITY.
[8]	"Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy." Brockington M., Torelli S., Prandini P., Boito C., Dolatshad N.F., Longman C., Brown S.C., Muntoni F. Hum. Mol. Genet. 14:657-665(2005) [PubMed: 15661757] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION.

Web resources

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Glycosyltransferase-like protein LARGE2

Cross-references

Sequence databases
EMBLGenBankDDBJ	AK092526 mRNA. Translation: BAC03909.1. AK096021 mRNA. Translation: BAC04675.1. AC068385 Genomic DNA. No translation available. CH471064 Genomic DNA. Translation: EAW68021.1. BC037291 mRNA. Translation: AAH37291.1. AF258588 mRNA. Translation: AAG23791.1. Frameshift.
IPI	IPI00298417. IPI00783334.
RefSeq	NP_689525.3.
UniGene	Hs.100915 Hs.86543
3D structure databases
ModBase	Search...
Protein family/group databases
CAZy	GT49. Glycosyltransferase Family 49. GT8. Glycosyltransferase Family 8.
Proteomic databases
PRIDE	Q8N3Y3.
Genome annotation databases
Ensembl	ENSG00000165905. Homo sapiens. [Contig view]
GeneID	120071.
KEGG	hsa:120071.
Organism-specific databases
GeneCards	GC11P045899.
H-InvDB	HIX0009596.
HGNC	HGNC:16522. GYLTL1B.
MIM	609709. gene.
PharmGKB	PA142671704.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q8N3Y3.
OMA	Q8N3Y3. KHYSGLY.
Gene expression databases
ArrayExpress	Q8N3Y3.
Bgee	Q8N3Y3.
CleanEx	HS_GYLTL1B.
GermOnline	ENSG00000165905. Homo sapiens.
Family and domain databases
InterPro	IPR002495. Glyco_trans_8. [Graphical view]
Pfam	PF01501. Glyco_transf_8. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	80516.
SOURCE	Search...

Entry information

Entry name

LARG2_HUMAN

Accession

Primary (citable) accession number: Q8N3Y3
Secondary accession number(s): A6NN75 , Q8N8Y6, Q8NAK3, Q8WY62

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 7, 2006
Last sequence update:	May 1, 2007
Last modified:	June 16, 2009
This is version 55 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)