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Reviewed, UniProtKB/Swiss-Prot Q9Z1M7 (LARGE_MOUSE)

Last modified June 16, 2009. Version 67. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Glycosyltransferase-like protein LARGE1
    EC=2.4.-.-
Alternative name(s):
    Acetylglucosaminyltransferase-like 1A
Gene names
Name: Large
Synonyms: Kiaa0609, Large1
OrganismMus musculus (Mouse)
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMus

Protein attributes

Sequence length756 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
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. May be involved in the addition of a repeated disaccharide unit By similarity.

Subcellular location

Golgi apparatus membrane; Single-pass type II membrane protein By similarity.

Tissue specificity

Ubiquitous. Highest expression in heart, diaphragm and brain, where it is especially found in cerebral cortex, hippocampus, and trigeminal ganglion. Ref.5

Developmental stage

Ubiquitously found at 14.5 dpc with strong expression in heart, central nervous system structures such as cerebral cortex, hippocampus, olfactory lobe, trigeminal ganglion and spinal cord. Also expressed in diaphragm and duodenum.

Involvement in disease

Defects in Large may be a cause of myodystrophy (myd), an autosomal recessive neuromuscular phenotype, probably due to abnormal post-translational modification of alpha-dystroglycan. Ref.4

Sequence similarities

Belongs to the glycosyltransferase 8 family.

Sequence caution

The sequence BAC65610.1 differs from that shown. Reason: Frameshift at position 48.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 756756Glycosyltransferase-like protein LARGE1
PRO_0000206061

Regions

Topological domain1 – 1010Cytoplasmic Potential
Transmembrane11 – 3121Signal-anchor for type II membrane protein Potential
Topological domain32 – 756725Lumenal Potential
Coiled coil53 – 9543 Potential

Amino acid modifications

Glycosylation971N-linked (GlcNAc...) Potential
Glycosylation1221N-linked (GlcNAc...) Potential
Glycosylation1481N-linked (GlcNAc...) Potential
Glycosylation2721N-linked (GlcNAc...) Potential

Experimental info

Sequence conflict2691L → S in AAI00400. Ref.3
Sequence conflict3241L → H in AAI00400. Ref.3
Sequence conflict4411D → N in AAI00400. Ref.3
Sequence conflict7481K → E in AAI00400. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q9Z1M7-1 [UniParc].

Last modified May 1, 1999. Version 1.
Checksum: 37B32E039AB8895F

FASTA75687,964
        10         20         30         40         50         60 
MLGICRGRRK FLAASLTLLC IPAITWIYLF AGSFEDGKPV SLSPLESQAH SPRYTASSQR 

        70         80         90        100        110        120 
ERESLEVRVR EVEEENRALR RQLSLAQGQS PAHHRGNHSK TYSMEEGTGD SENLRAGIVA 

       130        140        150        160        170        180 
GNSSECGQQP AVEKCETIHV AIVCAGYNAS RDVVTLVKSV LFHRRNPLHF HLIADSIAEQ 

       190        200        210        220        230        240 
ILATLFQTWM VPAVRVDFYN ADELKSEVSW IPNKHYSGIY GLMKLVLTKT LPANLERVIV 

       250        260        270        280        290        300 
LDTDITFATD IAELWAVFHK FKGQQVLGLV ENQSDWYLGN LWKNHRPWPA LGRGYNTGVI 

       310        320        330        340        350        360 
LLLLDKLRKM KWEQMWRLTA ERELMGMLST SLADQDIFNA VIKQNPFLVY QLPCFWNVQL 

       370        380        390        400        410        420 
SDHTRSEQCY RDVSDLKVIH WNSPKKLRVK NKHVEFFRNL YLTFLEYDGN LLRRELFGCP 

       430        440        450        460        470        480 
SETDVNNENL QKQLSELDED DLCYEFRRER FTVHRTHLYF LHYEFEPSAD NTDVTLVAQL 

       490        500        510        520        530        540 
SMDRLQMLEA ICKHWEGPIS LALYLSDAEA QQFLRYAQGS EVLMSRQNVG YHIVYKEGQF 

       550        560        570        580        590        600 
YPVNLLRNVA MKHISTPYMF LSDIDFLPMY GLYEYLRKSV IQLDLANTKK AMIVPAFETL 

       610        620        630        640        650        660 
RYRLSFPKSK AELLSMLDMG TLFTFRYHVW TKGHAPTNFA KWRTATTPYQ VEWEADFEPY 

       670        680        690        700        710        720 
VVVRRDCPEY DRRFVGFGWN KVAHIMELDA QEYEFTVLPN AYMIHMPHAP SFDITKFRSN 

       730        740        750 
KQYRICLKTL KEEFQQDMSR RYGFAALKYL TAENNS 

« Hide

References

« Hide 'large scale' references
[1]"The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family."
Peyrard M., Seroussi E., Sandberg-Nordqvist A.-C., Xie Y.-G., Han F.-Y., Fransson I., Collins J.E., Dunham I., Kost-Alimova M., Imreh S., Dumanski J.P.
Proc. Natl. Acad. Sci. U.S.A. 96:598-603(1999) [PubMed: 9892679] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
Tissue: Brain and Embryo.
[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].
Strain: FVB/N-3.
Tissue: Embryonic stem cell and Mammary tumor.
[3]"Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries."
Okazaki N., Kikuno R., Ohara R., Inamoto S., Aizawa H., Yuasa S., Nakajima D., Nagase T., Ohara O., Koga H.
DNA Res. 10:35-48(2003) [PubMed: 12693553] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]"Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse."
Grewal P.K., Holzfeind P.J., Bittner R.E., Hewitt J.E.
Nat. Genet. 28:151-154(2001) [PubMed: 11381262] [Abstract]
Cited for: DISEASE.
[5]"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.
+Additional computationally mapped references.

Web resources

Functional Glycomics Gateway - GTase

Large like-glycosyltransferase

Cross-references

Sequence databases

AJ006278 mRNA. Translation: CAA06945.1.
AK122328 mRNA. Translation: BAC65610.1. Frameshift.
BC061506 mRNA. Translation: AAH61506.1. Different initiation.
BC100399 mRNA. Translation: AAI00400.1.
IPIIPI00130276.
RefSeqNP_034817.1.
UniGeneMm.324371
Mm.475159

3D structure databases

ModBaseSearch...

Protein family/group databases

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

PTM databases

PhosphoSiteQ9Z1M7.

Genome annotation databases

EnsemblENSMUSG00000004383. Mus musculus. [Contig view]
GeneID16795.
KEGGmmu:16795.

Organism-specific databases

MGIMGI:1342270. Large.
RougeSearch...

Phylogenomic databases

HOGENOMQ9Z1M7.
HOVERGENQ9Z1M7.
OMAQ9Z1M7. AHRRGNH.

Gene expression databases

ArrayExpressQ9Z1M7.
BgeeQ9Z1M7.
CleanExMM_LARGE.
GermOnlineENSMUSG00000004383. Mus musculus.

Family and domain databases

InterProIPR002495. Glyco_trans_8.
[Graphical view]
PfamPF01501. Glyco_transf_8. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio290662.
SOURCESearch...

Entry information

Entry nameLARGE_MOUSE
AccessionPrimary (citable) accession number: Q9Z1M7
Secondary accession number(s): Q497S9, Q6P7U2, Q80TW0
Entry history
Integrated into UniProtKB/Swiss-Prot: July 26, 2002
Last sequence update: May 1, 1999
Last modified: June 16, 2009
This is version 67 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

Relevant documents

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents