Large
Gene Detail

Symbol Name ID

Large like-glycosyltransferase MGI:1342270

Synonyms

BPFD#36, enr, fg, froggy, mKIAA0609

Feature Type

protein coding gene

Genetic Map

Chromosome 8

35.08 cM, cytoband C1
Detailed Genetic Map ± 1 cM


Mapping data(17)

Sequence Map

Chr8:72814599-73353540 bp, - strand From VEGA annotation of GRCm38   538942 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:7810  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Large

Human homologs

Human Homolog		LARGE, like-glycosyltransferase
NCBI Gene ID		9215
neXtProt AC		NX_O95461
Human Synonyms		MDC1D, MDDGA6, MDDGB6
Human Chr (Location)		22q12.3; chr22:33669062-34316416 (-)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human LARGE

Alleles and phenotypes

All alleles(9) : Gene trapped(5) Transgenic(1) Spontaneous(2) Chemically induced(1)
 

Homozygotes exhibit a progressive myopathy, abnormal posture, thoracic kyphosis, calcium deposits in muscle, loss of Schwann cells and myelin, eye and CNS defects, deafness, reduced growth, and death around 4 months.

 
Human Diseases Modeled Using Mouse Large (3)    Alleles Annotated to Human Diseases(3)    Phenotype Images(2)

Gene Ontology (GO) classifications

All GO classifications: (8 annotations)

Process	glycoprotein biosynthetic process, muscle cell homeostasis
Component	Golgi apparatus, integral to membrane, ...
Function	protein binding, transferase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (5 records)
Data Summary: Results (31)    Tissues (9)    Images (19)
Theiler Stages: 23, 28

Assay Type	Results
RNA in situ	31

cDNA source data(70)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(77) Genomic(3) cDNA(73) Other(1)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000030306 (Evidence)
Ensembl Gene Model	ENSMUSG00000004383 (Evidence)
Entrez Gene	16795 (Evidence)
UniGene	324371
DFCI	TC1578304, TC1612245, TC1770883
DoTS	DT.481431, DT.91330323, DT.94138642, DT.94295107
NIA Mouse Gene Index	U043860
EC	2.4.-.-
Consensus CDS Project	CCDS22420.1
International Mouse Knockout Project Status	Large

Sequences

Length	Strain/Species
genomic	OTTMUSG00000030306	VEGA Gene Model | MGI Sequence Detail	538942	C57BL/6J
transcript	OTTMUST00000075036	VEGA | MGI Sequence Detail	4647	Not Applicable
polypeptide	OTTMUSP00000039267	VEGA | MGI Sequence Detail	756	Not Applicable

All sequences(37) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(1638 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR002495	Glycosyl transferase, family 8
Protein Ontology	PR:000009667	glycosyltransferase-like protein LARGE1

References

(Earliest) J:64437 Lane PW, Froggy (fg) renamed myd - myodystrophy. Mouse News Lett. 1969;40:30
(Latest) J:191192 Gumerson JD, et al., Muscle-specific expression of LARGE restores neuromuscular transmission deficits in dystrophic LARGEmyd mice. Hum Mol Genet. 2013 Feb 15;22(4):757-68
All references(85)

Other accession IDs

MGD-MRK-12127, MGD-MRK-12128, MGD-MRK-12737, MGD-MRK-9759, MGI:1196289, MGI:96926, MGI:97251