Fkrp
Gene Detail

Symbol Name ID

Fkrp fukutin related protein MGI:2447586

Synonyms

A830029B19Rik, LGMD1I, MDC1C

Feature Type

protein coding gene

Genetic Map

Chromosome 7

9.15 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr7:16809270-16816732 bp, - strand From Ensembl annotation of GRCm38   7463 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:11513  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 2 zebrafish

Gene Tree: Fkrp

Human homologs

Human Homolog		FKRP, fukutin related protein
NCBI Gene ID		79147
neXtProt AC		NX_Q9H9S5
Human Synonyms		LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5
Human Chr (Location)		19q13.32; chr19:47249303-47261832 (+)  GRCh37.p10
Disease Associations		(4) Diseases Associated with Human FKRP

Alleles and phenotypes

All alleles(6) : Targeted(5) Gene trapped(1)
 

Mice homozygous for a knock-out allele die by E10.5. Mice homozygous for a knock-in allele exhibit a progressive muscular dystrophy phenotype, abnormal brain morphology, defecting neuron migration, reduced body weight, and abnormal eye morphology.

 
Human Diseases Modeled Using Mouse Fkrp (3)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (16 annotations)

Process	glycoprotein biosynthetic process, protein processing
Component	dystrophin-associated glycoprotein complex, endoplasmic reticulum, ...
Function	transferase activity

External Resources: FuncBase

Expression

Literature Summary: (1 records)
cDNA source data(9)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(9) cDNA(9)
Microarray probesets(6)

Other database links

Ensembl Gene Model	ENSMUSG00000048920 (Evidence)
Entrez Gene	243853 (Evidence)
DFCI	TC1574685, TC1625287
DoTS	DT.528690, DT.55246275
NIA Mouse Gene Index	U028191
EC	2.-.-.-
Consensus CDS Project	CCDS20853.1
International Mouse Knockout Project Status	Fkrp

Sequences

Length	Strain/Species
genomic	ENSMUSG00000048920	Ensembl Gene Model | MGI Sequence Detail	7463	C57BL/6J
transcript	ENSMUST00000061390	Ensembl | MGI Sequence Detail	2803	Not Applicable
polypeptide	ENSMUSP00000059091	Ensembl | MGI Sequence Detail	494	Not Applicable

All sequences(37) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(40 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR007074	LicD
Protein Ontology	PR:000007547	fukutin-related protein

References

(Earliest) J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
(Latest) J:183288 Kuga A, et al., Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of alpha-dystroglycan. J Biol Chem. 2012 Mar 16;287(12):9560-7
All references(37)

Other accession IDs

MGI:2142041, MGI:2142045