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Q9Z1M7 (LARGE_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified November 16, 2011. Version 92. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
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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 lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length756 AA.
Sequence statusComplete.
Protein existenceEvidence at protein 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.

Subunit structure

Interacts with DAG1 (via the N-terminal domain of alpha-DAG1); the interaction increases binding of DAG1 to laminin. Ref.5

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.6

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

Note=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 AAH61506.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

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 – 3121Helical; Signal-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 [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]"Molecular recognition by LARGE is essential for expression of functional dystroglycan."
Kanagawa M., Saito F., Kunz S., Yoshida-Moriguchi T., Barresi R., Kobayashi Y.M., Muschler J., Dumanski J.P., Michele D.E., Oldstone M.B., Campbell K.P.
Cell 117:953-964(2004) [PubMed: 15210115] [Abstract]
Cited for: INTERACTION WITH DAG1.
[6]"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

EMBL
GenBank
DDBJ
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. NM_010687.1.
UniGeneMm.324371.

3D structure databases

ProteinModelPortalQ9Z1M7.
ModBaseSearch...

Protein-protein interaction databases

STRINGQ9Z1M7.

Protein family/group databases

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

PTM databases

PhosphoSiteQ9Z1M7.

Proteomic databases

PRIDEQ9Z1M7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000004497; ENSMUSP00000004497; ENSMUSG00000004383.
ENSMUST00000119826; ENSMUSP00000112617; ENSMUSG00000004383.
GeneID16795.
KEGGmmu:16795.

Organism-specific databases

CTD9215.
MGIMGI:1342270. Large.
RougeSearch...

Phylogenomic databases

GeneTreeENSGT00530000063165.
HOGENOMHBG387493.
HOVERGENHBG052308.
InParanoidQ9Z1M7.
OMAPHSPRYT.
OrthoDBEOG4KKZ2K.
PhylomeDBQ9Z1M7.

Gene expression databases

ArrayExpressQ9Z1M7.
BgeeQ9Z1M7.
CleanExMM_LARGE.
GenevestigatorQ9Z1M7.
GermOnlineENSMUSG00000004383. Mus musculus.

Family and domain databases

InterProIPR002495. Glyco_trans_8.
[Graphical view]
KOK09668.
PfamPF01501. Glyco_transf_8. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

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: November 16, 2011
This is version 92 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

MGD cross-references

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

SIMILARITY comments

Index of protein domains and families