Fkrp (fukutin related protein) - Rat Genome Database

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Gene: Fkrp (fukutin related protein) Rattus norvegicus
Analyze
Symbol: Fkrp
Name: fukutin related protein
RGD ID: 1305852
Description: Predicted to enable several functions, including dystroglycan binding activity; identical protein binding activity; and laminin binding activity. Predicted to be involved in protein O-linked glycosylation via mannose and protein tetramerization. Predicted to act upstream of or within several processes, including monocarboxylic acid metabolic process; nervous system development; and skeletal muscle organ development. Predicted to be located in several cellular components, including Golgi membrane; rough endoplasmic reticulum; and sarcolemma. Predicted to be active in Golgi apparatus and skeletal muscle myofibril. Human ortholog(s) of this gene implicated in dilated cardiomyopathy and muscular dystrophy (multiple). Orthologous to human FKRP (fukutin related protein); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,4-dinitrotoluene; 2,6-dinitrotoluene.
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: fukutin-related protein; LOC308390; MGC116338; ribitol 5-phosphate transferase FKRP
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8186,607,769 - 86,615,045 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl186,595,180 - 86,627,257 (-)EnsemblGRCr8
mRatBN7.2177,479,641 - 77,486,954 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl177,476,084 - 77,486,992 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx182,859,819 - 82,865,434 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0191,423,863 - 91,429,478 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0184,614,910 - 84,620,525 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0178,733,461 - 78,740,803 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl178,733,508 - 78,739,107 (-)Ensemblrn6Rnor6.0
Rnor_5.0179,980,656 - 79,987,961 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4177,133,884 - 77,139,485 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera171,964,734 - 71,970,335 (-)NCBICelera
RGSC_v3.1177,211,994 - 77,217,596 (-)NCBI
Cytogenetic Map1q21NCBI
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adult walking behavior  (ISO)
basement membrane organization  (ISO)
biological_process  (ND)
bone mineralization  (ISO)
brain development  (ISO)
camera-type eye development  (ISO)
central nervous system development  (ISO)
connective tissue development  (ISO)
connective tissue replacement  (ISO)
creatine metabolic process  (ISO)
diaphragm development  (ISO)
extracellular matrix organization  (ISO)
eye development  (ISO)
filtration diaphragm assembly  (ISO)
gene expression  (ISO)
glial cell differentiation  (ISO)
glycolytic process  (ISO)
glycoprotein biosynthetic process  (ISO)
heart development  (ISO)
heart morphogenesis  (ISO)
in utero embryonic development  (ISO)
inflammatory response  (ISO)
intracellular protein localization  (ISO)
lipid metabolic process  (ISO)
localization of cell  (ISO)
maintenance of protein localization in endoplasmic reticulum  (ISO)
muscle cell differentiation  (ISO)
muscle contraction  (ISO)
muscle structure development  (ISO)
neuromuscular process  (ISO)
neuron migration  (ISO)
oxygen metabolic process  (ISO)
pentitol metabolic process  (ISO)
pentose metabolic process  (ISO)
phosphatidylinositol 3-kinase/protein kinase B signal transduction  (ISO)
protein import  (ISO)
protein O-linked glycosylation via mannose  (IBA,ISO)
protein processing  (ISO)
protein tetramerization  (ISO)
reelin-mediated signaling pathway  (ISO)
respiratory system process  (ISO)
response to activity  (ISO)
response to alcohol  (ISO)
response to glucocorticoid  (ISO)
response to xenobiotic stimulus  (ISO)
skeletal muscle fiber differentiation  (ISO)
skeletal muscle organ development  (ISO)
skeletal muscle tissue development  (ISO)
skeletal muscle tissue regeneration  (ISO)
striated muscle cell differentiation  (ISO)

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Brockington M, etal., Am J Hum Genet. 2001 Dec;69(6):1198-209. Epub 2001 Oct 8.
2. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Brockington M, etal., Hum Mol Genet. 2001 Dec 1;10(25):2851-9.
3. Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. Chan YM, etal., Hum Mol Genet. 2010 Oct 15;19(20):3995-4006. doi: 10.1093/hmg/ddq314. Epub 2010 Jul 30.
4. Functional requirements for fukutin-related protein in the Golgi apparatus. Esapa CT, etal., Hum Mol Genet 2002 Dec 15;11(26):3319-31.
5. The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. Frosk P, etal., Hum Mutat. 2005 Jan;25(1):38-44.
6. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
7. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Guglieri M, etal., Hum Mutat. 2008 Feb;29(2):258-66.
8. Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation. Harel T, etal., Eur J Hum Genet. 2004 Jan;12(1):38-43.
9. Asian patients with limb girdle muscular dystrophy 2I (LGMD2I). Hong D, etal., J Clin Neurosci. 2011 Apr;18(4):494-9. doi: 10.1016/j.jocn.2010.08.010. Epub 2011 Feb 5.
10. Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations. Kefi M, etal., Neuropediatrics. 2008 Apr;39(2):113-5. doi: 10.1055/s-2008-1081465.
11. New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. Louhichi N, etal., Neurogenetics 2004 Feb;5(1):27-34. Epub 2003 Dec 2.
12. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
13. Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation. Müller T, etal., Neuromuscul Disord. 2005 May;15(5):372-6.
14. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
15. Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene delivery. Qiao C, etal., Mol Ther. 2014 Nov;22(11):1890-9. doi: 10.1038/mt.2014.141. Epub 2014 Jul 22.
16. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
18. Comprehensive gene review and curation RGD comprehensive gene curation
19. High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. Sveen ML, etal., Ann Neurol. 2006 May;59(5):808-15.
20. Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I. Torelli S, etal., Neuromuscul Disord. 2005 Dec;15(12):836-43. Epub 2005 Nov 8.
21. A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. Van Reeuwijk J, etal., Clin Genet. 2010 Sep;78(3):275-81. doi: 10.1111/j.1399-0004.2010.01384.x. Epub 2010 Feb 11.
22. Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I. Vieira NM, etal., Neuromuscul Disord. 2006 Dec;16(12):870-3. Epub 2006 Nov 20.
23. Post-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected]. Wang CH, etal., Am J Pathol. 2011 Jan;178(1):261-72. doi: 10.1016/j.ajpath.2010.11.020. Epub 2010 Dec 23.
Additional References at PubMed
PMID:12477932   PMID:15213246   PMID:17452335   PMID:19900540   PMID:25279699  


Genomics

Comparative Map Data
Fkrp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8186,607,769 - 86,615,045 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl186,595,180 - 86,627,257 (-)EnsemblGRCr8
mRatBN7.2177,479,641 - 77,486,954 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl177,476,084 - 77,486,992 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx182,859,819 - 82,865,434 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0191,423,863 - 91,429,478 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0184,614,910 - 84,620,525 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0178,733,461 - 78,740,803 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl178,733,508 - 78,739,107 (-)Ensemblrn6Rnor6.0
Rnor_5.0179,980,656 - 79,987,961 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4177,133,884 - 77,139,485 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera171,964,734 - 71,970,335 (-)NCBICelera
RGSC_v3.1177,211,994 - 77,217,596 (-)NCBI
Cytogenetic Map1q21NCBI
FKRP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381946,744,760 - 46,758,575 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1946,746,046 - 46,776,988 (+)Ensemblhg38GRCh38
GRCh371947,249,314 - 47,261,832 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361951,941,143 - 51,953,582 (+)NCBIBuild 36Build 36hg18NCBI36
Build 341951,941,154 - 51,953,581NCBI
Celera1944,052,833 - 44,066,103 (+)NCBICelera
Cytogenetic Map19q13.32NCBI
HuRef1943,674,242 - 43,686,703 (+)NCBIHuRef
CHM1_11947,251,200 - 47,263,719 (+)NCBICHM1_1
T2T-CHM13v2.01949,570,337 - 49,584,398 (+)NCBIT2T-CHM13v2.0
Fkrp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39716,543,192 - 16,550,657 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl716,543,171 - 16,550,657 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm38716,809,267 - 16,816,732 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl716,809,246 - 16,816,732 (-)Ensemblmm10GRCm38
MGSCv37717,394,616 - 17,402,081 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36715,967,789 - 15,975,237 (-)NCBIMGSCv36mm8
Celera714,007,271 - 14,014,735 (-)NCBICelera
Cytogenetic Map7A2NCBI
cM Map79.15NCBI
Fkrp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955574786,758 - 788,348 (+)Ensembl
ChiLan1.0NW_004955574779,672 - 789,621 (+)NCBIChiLan1.0ChiLan1.0
FKRP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22052,895,811 - 52,905,652 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11954,766,677 - 54,776,808 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01943,738,339 - 43,748,250 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11952,268,889 - 52,277,888 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1952,273,546 - 52,276,341 (+)EnsemblpanPan2panpan1.1
FKRP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11109,166,527 - 109,177,393 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1109,168,644 - 109,178,319 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1108,646,333 - 108,657,154 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01109,692,868 - 109,703,829 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1109,693,019 - 109,702,692 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11109,370,001 - 109,380,952 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01109,004,334 - 109,015,149 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01109,872,874 - 109,883,835 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Fkrp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934918,958,974 - 18,968,719 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936664578,126 - 586,795 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_004936664577,109 - 586,848 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FKRP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl652,627,471 - 52,639,253 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1652,627,466 - 52,639,255 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2647,948,142 - 47,957,965 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FKRP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1640,100,399 - 40,128,340 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl640,126,321 - 40,127,808 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366607319,812,461 - 19,825,085 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fkrp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248326,849,005 - 6,857,898 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046248326,849,001 - 6,858,931 (-)NCBIHetGla 1.0HetGla 1.0hetGla2
Fkrp
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v12172,276,410 - 172,283,825 (+)NCBIRrattus_CSIRO_v1

Variants

.
Variants in Fkrp
52 total Variants
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:553
Count of miRNA genes:262
Interacting mature miRNAs:323
Transcripts:ENSRNOT00000021586
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCr8)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1331732Srn4Serum renin concentration QTL 44.467renin activity (VT:0005581)plasma renin activity level (CMO:0000116)14345783787558729Rat
1578649Bmd8Bone mineral density QTL 84.9femur mineral mass (VT:0010011)trabecular volumetric bone mineral density (CMO:0001729)151940904101229020Rat
1358359Sradr1Stress Responsive Adrenal Weight QTL 14.74adrenal gland mass (VT:0010420)both adrenal glands wet weight (CMO:0000164)139728272132889942Rat
4889929Bss87Bone structure and strength QTL 876.7tibia area (VT:1000281)tibia-fibula cortical bone endosteal cross-sectional area (CMO:0001722)14630261591302615Rat
634314Niddm44Non-insulin dependent diabetes mellitus QTL 44blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)151941022208479811Rat
1331792Rf29Renal function QTL 294.589urine potassium amount (VT:0010539)urine potassium level (CMO:0000128)14345783787558729Rat
2313062Bmd73Bone mineral density QTL 733.90.0001tibia mineral mass (VT:1000283)compact volumetric bone mineral density (CMO:0001730)14630261591302615Rat
8552900Pigfal1Plasma insulin-like growth factor 1 level QTL 17.4blood insulin-like growth factor amount (VT:0010479)plasma insulin-like growth factor 1 level (CMO:0001299)14350995288509952Rat
1578654Bss10Bone structure and strength QTL 104femur morphology trait (VT:0000559)femoral neck cortical cross-sectional area (CMO:0001702)151940904168768703Rat
1354643Foco2Food consumption QTL 27.170.0001eating behavior trait (VT:0001431)food intake rate (CMO:0000427)14212296887122968Rat
2313065Bss67Bone structure and strength QTL 673.10.0001tibia area (VT:1000281)tibia total energy absorbed before break (CMO:0001736)14630261591302615Rat
7421628Bp361Blood pressure QTL 3610.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)183019780128019780Rat
2313069Bss68Bone structure and strength QTL 682.90.0001tibia size trait (VT:0100001)tibia total energy absorbed before break (CMO:0001736)14630261591302615Rat
631495Bp96Blood pressure QTL 964.52arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)166404680111404680Rat
70225Bp58Blood pressure QTL 583.3arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)134184556172281316Rat
2313075Bss66Bone structure and strength QTL 663.40.0001tibia length (VT:0004357)tibia length (CMO:0000450)14630261591302615Rat
631512Scl6Serum cholesterol level QTL 69.6blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)18126986099645535Rat
2298545Neuinf8Neuroinflammation QTL 84.6nervous system integrity trait (VT:0010566)spinal cord beta-2 microglobulin mRNA level (CMO:0002125)166009857160501508Rat
10059597Bp377Blood pressure QTL 3773.420.025arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)134565911208798288Rat
1331778Rf28Renal function QTL 284.66urine potassium amount (VT:0010539)urine potassium excretion rate (CMO:0000761)14345783787558729Rat
2313077Bss69Bone structure and strength QTL 693.50.0001tibia strength trait (VT:1000284)bone polar moment of inertia (CMO:0001558)14630261591302615Rat
1302788Scl19Serum cholesterol QTL 194.60.001blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)166400974132889942Rat
1549903Bp267Blood pressure QTL 267arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)184107164115183752Rat
2313402Anxrr24Anxiety related response QTL 24aggression-related behavior trait (VT:0015014)tameness/aggressiveness composite score (CMO:0002136)151511344153680016Rat
1331785Rf27Renal function QTL 274.643urine sodium amount (VT:0006274)urine sodium level (CMO:0000129)13070837587558729Rat
61342Bp27Blood pressure QTL 273.40.0006arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)16540563796805205Rat
4889962Bss94Bone structure and strength QTL 943.8tibia area (VT:1000281)tibia-fibula cortical bone endosteal cross-sectional area (CMO:0001722)15190920691302615Rat
6903308Scl36Serum cholesterol QTL 3620.0125blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)158769992103769992Rat
2313092Bmd72Bone mineral density QTL 722.50.0001tibia mineral mass (VT:1000283)total volumetric bone mineral density (CMO:0001728)14630261591302615Rat
2300164Bmd44Bone mineral density QTL 445.40.0001lumbar vertebra mineral mass (VT:0010511)volumetric bone mineral density (CMO:0001553)166077886111077886Rat
2313097Bss70Bone structure and strength QTL 703.50.0001tibia strength trait (VT:1000284)tibia total energy absorbed before break (CMO:0001736)14630261591302615Rat
9589820Insglur3Insulin/glucose ratio QTL 310.750.001blood insulin amount (VT:0001560)calculated plasma insulin level (CMO:0002170)14350995288509952Rat
152025249Scl82Serum cholesterol level QTL 824.77blood cholesterol amount (VT:0000180)152891222109116986Rat
1354599Bw29Body weight QTL 293.460.001body mass (VT:0001259)body weight (CMO:0000012)14212296887122968Rat
4889919Bss86Bone structure and strength QTL 864.1tibia area (VT:1000281)tibia midshaft total cross-sectional area (CMO:0001715)14630261591302615Rat
8552948Pigfal11Plasma insulin-like growth factor 1 level QTL 114.7blood insulin-like growth factor amount (VT:0010479)plasma insulin-like growth factor 1 level (CMO:0001299)14350995288509952Rat


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
16 12 67 164 91 90 59 92 59 6 356 192 11 143 81 92 31 17 17

Sequence


Ensembl Acc Id: ENSRNOT00000021586   ⟹   ENSRNOP00000021586
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl186,607,707 - 86,614,990 (-)Ensembl
mRatBN7.2 Ensembl177,479,589 - 77,486,105 (-)Ensembl
Rnor_6.0 Ensembl178,733,508 - 78,739,107 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000115713   ⟹   ENSRNOP00000089397
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl186,607,235 - 86,614,188 (-)Ensembl
mRatBN7.2 Ensembl177,476,084 - 77,486,992 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000122349   ⟹   ENSRNOP00000109750
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl186,599,276 - 86,618,885 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000124220   ⟹   ENSRNOP00000107417
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl186,604,299 - 86,627,257 (-)Ensembl
Ensembl Acc Id: ENSRNOT00000138144   ⟹   ENSRNOP00000103969
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl186,595,180 - 86,616,809 (-)Ensembl
RefSeq Acc Id: NM_001025678   ⟹   NP_001020849
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8186,607,769 - 86,613,370 (-)NCBI
mRatBN7.2177,479,672 - 77,485,273 (-)NCBI
Rnor_6.0178,733,506 - 78,739,107 (-)NCBI
Rnor_5.0179,980,656 - 79,987,961 (-)NCBI
RGSC_v3.4177,133,884 - 77,139,485 (-)RGD
Celera171,964,734 - 71,970,335 (-)RGD
Sequence:
RefSeq Acc Id: XM_006228414   ⟹   XP_006228476
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8186,607,775 - 86,615,045 (-)NCBI
mRatBN7.2177,479,641 - 77,486,948 (-)NCBI
Rnor_6.0178,733,461 - 78,740,803 (-)NCBI
Rnor_5.0179,980,656 - 79,987,961 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006228415   ⟹   XP_006228477
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8186,607,775 - 86,615,037 (-)NCBI
mRatBN7.2177,479,641 - 77,486,954 (-)NCBI
Rnor_6.0178,733,461 - 78,740,803 (-)NCBI
Rnor_5.0179,980,656 - 79,987,961 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001020849   ⟸   NM_001025678
- UniProtKB: Q4KLJ4 (UniProtKB/TrEMBL),   A6J8C8 (UniProtKB/TrEMBL),   A0A8I6GI25 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006228476   ⟸   XM_006228414
- Peptide Label: isoform X1
- UniProtKB: Q4KLJ4 (UniProtKB/TrEMBL),   A6J8C8 (UniProtKB/TrEMBL),   A0A8I6GI25 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006228477   ⟸   XM_006228415
- Peptide Label: isoform X1
- UniProtKB: Q4KLJ4 (UniProtKB/TrEMBL),   A6J8C8 (UniProtKB/TrEMBL),   A0A8I6GI25 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000021586   ⟸   ENSRNOT00000021586
Ensembl Acc Id: ENSRNOP00000089397   ⟸   ENSRNOT00000115713
Ensembl Acc Id: ENSRNOP00000109750   ⟸   ENSRNOT00000122349
Ensembl Acc Id: ENSRNOP00000103969   ⟸   ENSRNOT00000138144
Ensembl Acc Id: ENSRNOP00000107417   ⟸   ENSRNOT00000124220
Protein Domains
FKRP stem   LicD/FKTN/FKRP nucleotidyltransferase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q4KLJ4-F1-model_v2 AlphaFold Q4KLJ4 1-494 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1305852 AgrOrtholog
BioCyc Gene G2FUF-60594 BioCyc
BioCyc Pathway PWY-7981 [alpha-dystroglycan glycosylation] BioCyc
BioCyc Pathway Image PWY-7981 BioCyc
Ensembl Genes ENSRNOG00000016055 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000021586 ENTREZGENE
  ENSRNOT00000021586.6 UniProtKB/TrEMBL
  ENSRNOT00000115713.2 UniProtKB/TrEMBL
  ENSRNOT00000122349.1 UniProtKB/TrEMBL
  ENSRNOT00000124220 ENTREZGENE
  ENSRNOT00000124220.1 UniProtKB/TrEMBL
  ENSRNOT00000138144 ENTREZGENE
  ENSRNOT00000138144.1 UniProtKB/TrEMBL
IMAGE_CLONE IMAGE:7382397 IMAGE-MGC_LOAD
InterPro FKRP_N UniProtKB/TrEMBL
  LicD-like UniProtKB/TrEMBL
  LicD_transferase UniProtKB/TrEMBL
KEGG Report rno:308390 UniProtKB/TrEMBL
MGC_CLONE MGC:116338 IMAGE-MGC_LOAD
NCBI Gene 308390 ENTREZGENE
PANTHER FUKUTIN RELATED PROTEIN UniProtKB/TrEMBL
  FUKUTIN-RELATED PROTEIN UniProtKB/TrEMBL
Pfam FKRP_N UniProtKB/TrEMBL
  LicD UniProtKB/TrEMBL
PhenoGen Fkrp PhenoGen
RatGTEx ENSRNOG00000016055 RatGTEx
UniProt A0A8I6GI25 ENTREZGENE, UniProtKB/TrEMBL
  A6J8C8 ENTREZGENE
  Q4KLJ4 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A6J8C8 UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2005-12-06 Fkrp  fukutin related protein  Fkrp_predicted  fukutin related protein (predicted)  Symbol and Name updated 1559027 APPROVED
2005-01-12 Fkrp_predicted  fukutin related protein (predicted)      Symbol and Name status set to approved 70820 APPROVED