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Q9Z1M7

- LARGE_MOUSE

UniProt

Q9Z1M7 - LARGE_MOUSE

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Protein

Glycosyltransferase-like protein LARGE1

Gene

Large

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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).By similarity

GO - Molecular functioni

  1. transferase activity, transferring glycosyl groups Source: UniProtKB

GO - Biological processi

  1. glycoprotein biosynthetic process Source: UniProtKB
  2. muscle cell cellular homeostasis Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Protein family/group databases

CAZyiGT49. Glycosyltransferase Family 49.
GT8. Glycosyltransferase Family 8.

Names & Taxonomyi

Protein namesi
Recommended name:
Glycosyltransferase-like protein LARGE1 (EC:2.4.-.-)
Alternative name(s):
Acetylglucosaminyltransferase-like 1A
Gene namesi
Name:Large
Synonyms:Kiaa0609, Large1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 8

Organism-specific databases

MGIiMGI:1342270. Large.

Subcellular locationi

GO - Cellular componenti

  1. Golgi apparatus Source: UniProtKB-KW
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 756756Glycosyltransferase-like protein LARGE1PRO_0000206061Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi97 – 971N-linked (GlcNAc...)Sequence Analysis
Glycosylationi122 – 1221N-linked (GlcNAc...)Sequence Analysis
Glycosylationi148 – 1481N-linked (GlcNAc...)Sequence Analysis
Glycosylationi272 – 2721N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ9Z1M7.
PaxDbiQ9Z1M7.
PRIDEiQ9Z1M7.

PTM databases

PhosphoSiteiQ9Z1M7.

Expressioni

Tissue specificityi

Ubiquitous. Highest expression in heart, diaphragm and brain, where it is especially found in cerebral cortex, hippocampus, and trigeminal ganglion.1 Publication

Developmental stagei

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.

Gene expression databases

BgeeiQ9Z1M7.
CleanExiMM_LARGE.
ExpressionAtlasiQ9Z1M7. baseline and differential.
GenevestigatoriQ9Z1M7.

Interactioni

Subunit structurei

Interacts with DAG1 (via the N-terminal domain of alpha-DAG1); the interaction increases binding of DAG1 to laminin.1 Publication

Protein-protein interaction databases

STRINGi10090.ENSMUSP00000112617.

Structurei

3D structure databases

ProteinModelPortaliQ9Z1M7.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1010CytoplasmicSequence Analysis
Topological domaini32 – 756725LumenalSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei11 – 3121Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili53 – 9543Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the glycosyltransferase 8 family.Curated

Keywords - Domaini

Coiled coil, Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG279004.
GeneTreeiENSGT00530000063165.
HOGENOMiHOG000231467.
HOVERGENiHBG052308.
InParanoidiQ9Z1M7.
KOiK09668.
OMAiLESQPHS.
OrthoDBiEOG7RJPQV.
PhylomeDBiQ9Z1M7.
TreeFamiTF319168.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR002495. Glyco_trans_8.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamiPF01501. Glyco_transf_8. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9Z1M7-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MLGICRGRRK FLAASLTLLC IPAITWIYLF AGSFEDGKPV SLSPLESQAH
60 70 80 90 100
SPRYTASSQR ERESLEVRVR EVEEENRALR RQLSLAQGQS PAHHRGNHSK
110 120 130 140 150
TYSMEEGTGD SENLRAGIVA GNSSECGQQP AVEKCETIHV AIVCAGYNAS
160 170 180 190 200
RDVVTLVKSV LFHRRNPLHF HLIADSIAEQ ILATLFQTWM VPAVRVDFYN
210 220 230 240 250
ADELKSEVSW IPNKHYSGIY GLMKLVLTKT LPANLERVIV LDTDITFATD
260 270 280 290 300
IAELWAVFHK FKGQQVLGLV ENQSDWYLGN LWKNHRPWPA LGRGYNTGVI
310 320 330 340 350
LLLLDKLRKM KWEQMWRLTA ERELMGMLST SLADQDIFNA VIKQNPFLVY
360 370 380 390 400
QLPCFWNVQL SDHTRSEQCY RDVSDLKVIH WNSPKKLRVK NKHVEFFRNL
410 420 430 440 450
YLTFLEYDGN LLRRELFGCP SETDVNNENL QKQLSELDED DLCYEFRRER
460 470 480 490 500
FTVHRTHLYF LHYEFEPSAD NTDVTLVAQL SMDRLQMLEA ICKHWEGPIS
510 520 530 540 550
LALYLSDAEA QQFLRYAQGS EVLMSRQNVG YHIVYKEGQF YPVNLLRNVA
560 570 580 590 600
MKHISTPYMF LSDIDFLPMY GLYEYLRKSV IQLDLANTKK AMIVPAFETL
610 620 630 640 650
RYRLSFPKSK AELLSMLDMG TLFTFRYHVW TKGHAPTNFA KWRTATTPYQ
660 670 680 690 700
VEWEADFEPY VVVRRDCPEY DRRFVGFGWN KVAHIMELDA QEYEFTVLPN
710 720 730 740 750
AYMIHMPHAP SFDITKFRSN KQYRICLKTL KEEFQQDMSR RYGFAALKYL

TAENNS
Length:756
Mass (Da):87,964
Last modified:May 1, 1999 - v1
Checksum:i37B32E039AB8895F
GO

Sequence cautioni

The sequence BAC65610.1 differs from that shown. Reason: Frameshift at position 48.
The sequence AAH61506.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti269 – 2691L → S in AAI00400. (PubMed:12693553)Curated
Sequence conflicti324 – 3241L → H in AAI00400. (PubMed:12693553)Curated
Sequence conflicti441 – 4411D → N in AAI00400. (PubMed:12693553)Curated
Sequence conflicti748 – 7481K → E in AAI00400. (PubMed:12693553)Curated

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ006278 mRNA. Translation: CAA06945.1.
AK122328 mRNA. Translation: BAC65610.1. Frameshift.
BC061506 mRNA. Translation: AAH61506.1. Different initiation.
BC100399 mRNA. Translation: AAI00400.1.
CCDSiCCDS22420.1.
RefSeqiNP_034817.1. NM_010687.1.
UniGeneiMm.324371.

Genome annotation databases

EnsembliENSMUST00000004497; ENSMUSP00000004497; ENSMUSG00000004383.
ENSMUST00000119826; ENSMUSP00000112617; ENSMUSG00000004383.
GeneIDi16795.
KEGGimmu:16795.
UCSCiuc009mgs.1. mouse.

Cross-referencesi

Web resourcesi

Functional Glycomics Gateway - GTase

Large like-glycosyltransferase

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ006278 mRNA. Translation: CAA06945.1 .
AK122328 mRNA. Translation: BAC65610.1 . Frameshift.
BC061506 mRNA. Translation: AAH61506.1 . Different initiation.
BC100399 mRNA. Translation: AAI00400.1 .
CCDSi CCDS22420.1.
RefSeqi NP_034817.1. NM_010687.1.
UniGenei Mm.324371.

3D structure databases

ProteinModelPortali Q9Z1M7.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 10090.ENSMUSP00000112617.

Protein family/group databases

CAZyi GT49. Glycosyltransferase Family 49.
GT8. Glycosyltransferase Family 8.

PTM databases

PhosphoSitei Q9Z1M7.

Proteomic databases

MaxQBi Q9Z1M7.
PaxDbi Q9Z1M7.
PRIDEi Q9Z1M7.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000004497 ; ENSMUSP00000004497 ; ENSMUSG00000004383 .
ENSMUST00000119826 ; ENSMUSP00000112617 ; ENSMUSG00000004383 .
GeneIDi 16795.
KEGGi mmu:16795.
UCSCi uc009mgs.1. mouse.

Organism-specific databases

CTDi 9215.
MGIi MGI:1342270. Large.
Rougei Search...

Phylogenomic databases

eggNOGi NOG279004.
GeneTreei ENSGT00530000063165.
HOGENOMi HOG000231467.
HOVERGENi HBG052308.
InParanoidi Q9Z1M7.
KOi K09668.
OMAi LESQPHS.
OrthoDBi EOG7RJPQV.
PhylomeDBi Q9Z1M7.
TreeFami TF319168.

Miscellaneous databases

NextBioi 290662.
PROi Q9Z1M7.
SOURCEi Search...

Gene expression databases

Bgeei Q9Z1M7.
CleanExi MM_LARGE.
ExpressionAtlasi Q9Z1M7. baseline and differential.
Genevestigatori Q9Z1M7.

Family and domain databases

Gene3Di 3.90.550.10. 1 hit.
InterProi IPR002495. Glyco_trans_8.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view ]
Pfami PF01501. Glyco_transf_8. 1 hit.
[Graphical view ]
SUPFAMi SSF53448. SSF53448. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: DISEASE.
  5. 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] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.

Entry informationi

Entry nameiLARGE_MOUSE
AccessioniPrimary (citable) accession number: Q9Z1M7
Secondary accession number(s): Q497S9, Q6P7U2, Q80TW0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 26, 2002
Last sequence update: May 1, 1999
Last modified: October 29, 2014
This is version 109 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3