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Gene: FKRP (fukutin related protein) Homo sapiens
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Symbol: FKRP
Name: fukutin related protein
Description: Predicted to have dystroglycan binding activity and transferase activity. Involved in protein O-linked mannosylation. Localizes to several cellular components, including the Golgi apparatus; nucleoplasm; and rough endoplasmic reticulum. Implicated in dilated cardiomyopathy and muscular dystrophy (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FKTR; FLJ12576; fukutin-related protein; LGMD2I; LGMDR9; MDC1C; MDDGA5; MDDGB5; MDDGC5; MGC2991; ribitol-5-phosphate transferase
Orthologs:
Mus musculus (house mouse) : Fkrp (fukutin related protein)  MGI  Alliance
Rattus norvegicus (Norway rat) : Fkrp (fukutin related protein)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Fkrp (fukutin related protein)
Pan paniscus (bonobo/pygmy chimpanzee) : FKRP (fukutin related protein)
Canis lupus familiaris (dog) : FKRP (fukutin related protein)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Fkrp (fukutin related protein)
Sus scrofa (pig) : FKRP (fukutin related protein)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1946,746,046 - 46,776,988 (+)Ensembl
GRCh381946,746,015 - 46,758,575 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371947,249,303 - 47,261,832 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361951,941,143 - 51,953,582 (+)NCBINCBI36hg18NCBI36
Build 341951,941,154 - 51,953,581NCBI
Celera1944,052,833 - 44,066,103 (+)NCBI
Cytogenetic Map19q13.32NCBI
HuRef1943,674,242 - 43,686,703 (+)NCBIHuRef
CHM1_11947,251,200 - 47,263,719 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on FKRP
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1314133
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-12-25
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.