Reviewed, UniProtKB/Swiss-Prot Q9Z1M7 (LARGE_MOUSE)

Names and origin

Protein names

Recommended name:
    Glycosyltransferase-like protein LARGE1
    EC=2.4.-.-
Alternative name(s):
    Acetylglucosaminyltransferase-like 1A

Gene names

Name:	Large
Synonyms:	Kiaa0609, Large1

Organism

Mus musculus (Mouse)

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus

Protein attributes

Sequence length	756 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. 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.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Domain	Coiled coil Signal-anchor Transmembrane
Molecular function	Glycosyltransferase Transferase
PTM	Glycoprotein
Gene Ontology (GO)
Biological process	glycoprotein biosynthetic process Non-traceable author statement. Source: UniProtKB muscle maintenance Ref.4 Inferred from mutant phenotype. 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 Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 756	756	Glycosyltransferase-like protein LARGE1		PRO_0000206061
Regions
	Topological domain	1 – 10	10	Cytoplasmic Potential
	Transmembrane	11 – 31	21	Signal-anchor for type II membrane protein Potential
	Topological domain	32 – 756	725	Lumenal Potential
	Coiled coil	53 – 95	43	Potential
Amino acid modifications
	Glycosylation	97	1	N-linked (GlcNAc...) Potential
	Glycosylation	122	1	N-linked (GlcNAc...) Potential
	Glycosylation	148	1	N-linked (GlcNAc...) Potential
	Glycosylation	272	1	N-linked (GlcNAc...) Potential
Experimental info
	Sequence conflict	269	1	L → S in AAI00400. Ref.3
	Sequence conflict	324	1	L → H in AAI00400. Ref.3
	Sequence conflict	441	1	D → N in AAI00400. Ref.3
	Sequence conflict	748	1	K → E in AAI00400. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q9Z1M7-1 [UniParc]. Last modified May 1, 1999. Version 1. Checksum: 37B32E039AB8895F	FASTA	756	87,964
	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

References

	« Hide 'large scale' referencesShow '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
EMBLGenBankDDBJ	AJ006278 mRNA. Translation: CAA06945.1. AK122328 mRNA. Translation: BAC65610.1. Frameshift. BC061506 mRNA. Translation: AAH61506.1. Different initiation. BC100399 mRNA. Translation: AAI00400.1.
IPI	IPI00130276.
RefSeq	NP_034817.1.
UniGene	Mm.324371 Mm.475159
3D structure databases
ModBase	Search...
Protein family/group databases
CAZy	GT49. Glycosyltransferase Family 49. GT8. Glycosyltransferase Family 8.
PTM databases
PhosphoSite	Q9Z1M7.
Genome annotation databases
Ensembl	ENSMUSG00000004383. Mus musculus. [Contig view]
GeneID	16795.
KEGG	mmu:16795.
Organism-specific databases
MGI	MGI:1342270. Large.
Rouge	Search...
Phylogenomic databases
HOGENOM	Q9Z1M7.
HOVERGEN	Q9Z1M7.
OMA	Q9Z1M7. AHRRGNH.
Gene expression databases
ArrayExpress	Q9Z1M7.
Bgee	Q9Z1M7.
CleanEx	MM_LARGE.
GermOnline	ENSMUSG00000004383. Mus musculus.
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	290662.
SOURCE	Search...

Entry information

Entry name

LARGE_MOUSE

Accession

Primary (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 status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)