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Q8N3Y3 (LARG2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 97. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Glycosyltransferase-like protein LARGE2

EC=2.4.-.-
Alternative name(s):
Glycosyltransferase-like 1B
Gene names
Name:GYLTL1B
Synonyms:LARGE2
ORF Names:PP5656
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length721 AA.
Sequence statusComplete.
Protein existenceEvidence 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 Ref.8.

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.

The sequence BAC03909.1 differs from that shown. Reason: Probable cloning artifact.

Ontologies

Keywords
   Cellular componentGolgi apparatus
Membrane
   Coding sequence diversityPolymorphism
   DomainSignal-anchor
Transmembrane
Transmembrane helix
   Molecular functionGlycosyltransferase
Transferase
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processmuscle cell cellular homeostasis

Inferred from sequence or structural similarity. Source: UniProtKB

   Cellular_componentGolgi membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functiontransferase activity, transferring glycosyl groups

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 721721Glycosyltransferase-like protein LARGE2
PRO_0000226811

Regions

Topological domain1 – 88Cytoplasmic Potential
Transmembrane9 – 2921Helical; Signal-anchor for type II membrane protein; Potential
Topological domain30 – 721692Lumenal Potential

Amino acid modifications

Glycosylation801N-linked (GlcNAc...) Potential
Glycosylation1071N-linked (GlcNAc...) Potential
Glycosylation2311N-linked (GlcNAc...) Potential

Natural variations

Natural variant371E → K. Ref.4
Corresponds to variant rs17853729 [ dbSNP | Ensembl ].
VAR_031854
Natural variant5461R → W.
Corresponds to variant rs11038713 [ dbSNP | Ensembl ].
VAR_031855
Natural variant6771R → C.
Corresponds to variant rs2271851 [ dbSNP | Ensembl ].
VAR_025518

Experimental info

Sequence conflict1661Q → R in BAC04675. Ref.1
Sequence conflict3981E → G in BAC03909. Ref.1
Sequence conflict473 – 4742HF → IS in AAG23791. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Q8N3Y3 [UniParc].

Last modified May 1, 2007. Version 2.
Checksum: 7E9E208AAD872344

FASTA72181,787
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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].
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. expand/collapse author list , 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] [Europe PMC] [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. expand/collapse author list , 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], 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. expand/collapse author list , 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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
+Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Glycosyltransferase-like protein LARGE2

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK092526 mRNA. Translation: BAC03909.1. Sequence problems.
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.
CCDSCCDS31473.1.
RefSeqNP_689525.3. NM_152312.3.
XP_005252842.1. XM_005252785.1.
UniGeneHs.86543.

3D structure databases

ProteinModelPortalQ8N3Y3.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

DIPDIP-48923N.
IntActQ8N3Y3. 1 interaction.
STRING9606.ENSP00000324570.

Protein family/group databases

CAZyGT49. Glycosyltransferase Family 49.
GT8. Glycosyltransferase Family 8.

PTM databases

PhosphoSiteQ8N3Y3.

Polymorphism databases

DMDM146345450.

Proteomic databases

MaxQBQ8N3Y3.
PaxDbQ8N3Y3.
PRIDEQ8N3Y3.

Protocols and materials databases

DNASU120071.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000325468; ENSP00000324570; ENSG00000165905.
ENST00000401752; ENSP00000385235; ENSG00000165905.
ENST00000531526; ENSP00000432869; ENSG00000165905.
GeneID120071.
KEGGhsa:120071.
UCSCuc001nbv.1. human.

Organism-specific databases

CTD120071.
GeneCardsGC11P045943.
H-InvDBHIX0009596.
HGNCHGNC:16522. GYLTL1B.
HPAHPA056621.
MIM609709. gene.
neXtProtNX_Q8N3Y3.
PharmGKBPA142671704.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG279004.
HOGENOMHOG000231467.
HOVERGENHBG052308.
InParanoidQ8N3Y3.
KOK09668.
OMALPCIWNV.
OrthoDBEOG7RJPQV.
PhylomeDBQ8N3Y3.
TreeFamTF319168.

Gene expression databases

ArrayExpressQ8N3Y3.
BgeeQ8N3Y3.
CleanExHS_GYLTL1B.
GenevestigatorQ8N3Y3.

Family and domain databases

Gene3D3.90.550.10. 1 hit.
InterProIPR002495. Glyco_trans_8.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamPF01501. Glyco_transf_8. 1 hit.
[Graphical view]
SUPFAMSSF53448. SSF53448. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi120071.
NextBio80516.
PROQ8N3Y3.
SOURCESearch...

Entry information

Entry nameLARG2_HUMAN
AccessionPrimary (citable) accession number: Q8N3Y3
Secondary accession number(s): A6NN75 expand/collapse secondary AC list , Q8N8Y6, Q8NAK3, Q8WY62
Entry history
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: May 1, 2007
Last modified: July 9, 2014
This is version 97 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM