Efemp1 (EGF-like fibulin extracellular matrix protein 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: Efemp1 (EGF-like fibulin extracellular matrix protein 1) Rattus norvegicus
Analyze
Symbol: Efemp1
Name: EGF-like fibulin extracellular matrix protein 1 (Ensembl:EGF containing fibulin extracellular matrix protein 1)
RGD ID: 1308528
Description: Predicted to enable epidermal growth factor receptor activity and epidermal growth factor receptor binding activity. Involved in positive regulation of cell population proliferation; regulation of cell projection organization; and regulation of glial cell migration. Located in basement membrane. Human ortholog(s) of this gene implicated in Doyne honeycomb retinal dystrophy and cutis laxa. Orthologous to human EFEMP1 (EGF containing fibulin extracellular matrix protein 1); INTERACTS WITH 17alpha-ethynylestradiol; 2,2',4,4'-Tetrabromodiphenyl ether; 2,3,7,8-tetrachlorodibenzodioxine.
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: EGF containing fibulin extracellular matrix protein 1; EGF-containing fibulin-like extracellular matrix protein 1; epidermal growth factor-containing fibulin-like extracellular matrix protein 1; FIBL-3; fibulin-3; LOC305604; T16
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
GRCr814106,811,769 - 106,890,961 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl14106,802,304 - 106,892,808 (+)EnsemblGRCr8
mRatBN7.214102,610,813 - 102,690,027 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl14102,610,908 - 102,690,018 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx14106,946,350 - 107,025,480 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.014108,182,972 - 108,262,217 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.014104,655,396 - 104,734,632 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.014113,202,382 - 113,294,993 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl14113,202,419 - 113,295,014 (+)Ensemblrn6Rnor6.0
Rnor_5.014112,961,348 - 112,984,803 (+)NCBIRnor_5.0Rnor_5.0rn5
Rnor_5.014112,892,387 - 112,902,495 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.414109,733,625 - 109,828,630 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera14101,510,577 - 101,587,921 (+)NCBICelera
RGSC_v3.114109,759,971 - 109,854,973 (+)NCBI
Cytogenetic Map14q22NCBI
JBrowse:




Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-hydroxypropanoic acid  (ISO)
3,4-dichloroaniline  (ISO)
3,7-dihydropurine-6-thione  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (ISO)
5-fluorouracil  (ISO)
6-propyl-2-thiouracil  (EXP)
6alpha-methylprednisolone  (ISO)
7,12-dimethyltetraphene  (EXP)
acrolein  (ISO)
all-trans-retinoic acid  (ISO)
alpha-pinene  (ISO)
amitrole  (EXP)
ammonium chloride  (EXP)
antirheumatic drug  (ISO)
Archazolid B  (ISO)
aristolochic acid A  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (ISO)
azathioprine  (ISO)
benzo[a]pyrene  (ISO)
beta-naphthoflavone  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bucladesine  (ISO)
butan-1-ol  (ISO)
butanal  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
CGP 52608  (ISO)
chlorohydrocarbon  (EXP)
ciglitazone  (EXP)
cisplatin  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (ISO)
corosolic acid  (ISO)
corticosterone  (EXP)
coumestrol  (ISO)
crocidolite asbestos  (ISO)
CU-O LINKAGE  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (ISO)
diallyl trisulfide  (ISO)
dimethyl sulfoxide  (EXP)
dioxygen  (ISO)
disulfiram  (ISO)
diuron  (EXP)
dorsomorphin  (ISO)
doxorubicin  (ISO)
endosulfan  (EXP)
Enterolactone  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fenamidone  (ISO)
folic acid  (ISO)
furan  (EXP)
hexadecanoic acid  (ISO)
Indeno[1,2,3-cd]pyrene  (ISO)
indometacin  (ISO)
lead diacetate  (ISO)
lucanthone  (ISO)
medroxyprogesterone acetate  (ISO)
mercaptopurine  (EXP)
methimazole  (EXP)
methotrexate  (ISO)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-nitrosodiethylamine  (ISO)
ochratoxin A  (ISO)
okadaic acid  (ISO)
orphenadrine  (EXP)
ozone  (ISO)
paclitaxel  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
pentanal  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (ISO)
PhIP  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
phytoestrogen  (ISO)
potassium dichromate  (ISO)
prednisolone  (ISO)
pregnenolone 16alpha-carbonitrile  (EXP)
progesterone  (ISO)
propanal  (ISO)
purine-6-thiol  (EXP)
quercetin  (ISO)
rac-lactic acid  (ISO)
raloxifene  (ISO)
resveratrol  (ISO)
Rutecarpine  (ISO)
SB 431542  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (ISO)
sodium aurothiomalate  (ISO)
sulfadimethoxine  (EXP)
sunitinib  (ISO)
tamoxifen  (ISO)
temozolomide  (ISO)
tert-butyl hydroperoxide  (ISO)
tetrachloromethane  (ISO)
thiram  (ISO)
titanium dioxide  (ISO)
tributylstannane  (EXP)
trichostatin A  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vorinostat  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. The EFEMP1 gene: a frequent target for epigenetic silencing in multiple human pituitary adenoma subtypes. Duong CV, etal., Neuroendocrinology. 2013;98(3):200-11. doi: 10.1159/000355624. Epub 2013 Nov 6.
2. The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice. Fu L, etal., Hum Mol Genet. 2007 Oct 15;16(20):2411-22. Epub 2007 Jul 30.
3. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
4. Fibulin 3 peptides Fib3-1 and Fib3-2 are potential biomarkers of osteoarthritis. Henrotin Y, etal., Arthritis Rheum. 2012 Jul;64(7):2260-7. doi: 10.1002/art.34392.
5. Fibulin-3 is uniquely upregulated in malignant gliomas and promotes tumor cell motility and invasion. Hu B, etal., Mol Cancer Res. 2009 Nov;7(11):1756-70. doi: 10.1158/1541-7786.MCR-09-0207. Epub 2009 Nov 3.
6. Decrease of fibulin-3 in hepatocellular carcinoma indicates poor prognosis. Luo R, etal., PLoS One. 2013 Aug 1;8(8):e70511. doi: 10.1371/journal.pone.0070511. Print 2013.
7. Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration. Marmorstein LY, etal., Hum Mol Genet. 2007 Oct 15;16(20):2423-32. Epub 2007 Jul 30.
8. Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration. Marmorstein LY, etal., Proc Natl Acad Sci U S A. 2002 Oct 1;99(20):13067-72. Epub 2002 Sep 19.
9. Lack of fibulin-3 causes early aging and herniation, but not macular degeneration in mice. McLaughlin PJ, etal., Hum Mol Genet. 2007 Dec 15;16(24):3059-70. Epub 2007 Sep 13.
10. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. Interaction of DA41, a DAN-binding protein, with the epidermal growth factor-like protein, S(1-5). Ozaki T, etal., Biochem Biophys Res Commun. 1997 Aug 18;237(2):245-50.
13. GOA pipeline RGD automated data pipeline
14. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. Comprehensive gene review and curation RGD comprehensive gene curation
17. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Stone EM, etal., Nat Genet. 1999 Jun;22(2):199-202.
18. The glycoprotein fibulin-3 regulates morphology and motility of olfactory ensheathing cells in vitro. Vukovic J, etal., Glia. 2009 Mar;57(4):424-43. doi: 10.1002/glia.20771.
Additional References at PubMed
PMID:12477932   PMID:16502470   PMID:19804359   PMID:20005202   PMID:20551380   PMID:23376485   PMID:23533145   PMID:24006456   PMID:25406291   PMID:27035767   PMID:27068509   PMID:29366335  
PMID:30102696   PMID:31599437   PMID:33381589  


Genomics

Comparative Map Data
Efemp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr814106,811,769 - 106,890,961 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl14106,802,304 - 106,892,808 (+)EnsemblGRCr8
mRatBN7.214102,610,813 - 102,690,027 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl14102,610,908 - 102,690,018 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx14106,946,350 - 107,025,480 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.014108,182,972 - 108,262,217 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.014104,655,396 - 104,734,632 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.014113,202,382 - 113,294,993 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl14113,202,419 - 113,295,014 (+)Ensemblrn6Rnor6.0
Rnor_5.014112,961,348 - 112,984,803 (+)NCBIRnor_5.0Rnor_5.0rn5
Rnor_5.014112,892,387 - 112,902,495 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.414109,733,625 - 109,828,630 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera14101,510,577 - 101,587,921 (+)NCBICelera
RGSC_v3.114109,759,971 - 109,854,973 (+)NCBI
Cytogenetic Map14q22NCBI
EFEMP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38255,865,967 - 55,923,782 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl255,865,962 - 55,924,271 (-)Ensemblhg38GRCh38
GRCh37256,093,102 - 56,150,917 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36255,946,606 - 56,004,436 (-)NCBIBuild 36Build 36hg18NCBI36
Build 34256,004,748 - 56,060,856NCBI
Celera255,933,455 - 55,991,286 (-)NCBICelera
Cytogenetic Map2p16.1NCBI
HuRef255,828,195 - 55,886,081 (-)NCBIHuRef
CHM1_1256,023,033 - 56,081,234 (-)NCBICHM1_1
T2T-CHM13v2.0255,862,877 - 55,920,674 (-)NCBIT2T-CHM13v2.0
Efemp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391128,803,154 - 28,876,743 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1128,803,204 - 28,876,743 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm381128,853,154 - 28,926,743 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1128,853,204 - 28,926,743 (+)Ensemblmm10GRCm38
MGSCv371128,753,205 - 28,826,743 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361128,767,773 - 28,826,737 (+)NCBIMGSCv36mm8
Celera1131,227,166 - 31,304,265 (+)NCBICelera
Cytogenetic Map11A3.3NCBI
cM Map1116.32NCBI
Efemp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542427,181,099 - 27,240,446 (+)Ensembl
ChiLan1.0NW_00495542427,181,717 - 27,240,067 (+)NCBIChiLan1.0ChiLan1.0
EFEMP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21270,407,006 - 70,464,773 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A70,410,928 - 70,468,816 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A56,017,678 - 56,076,059 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A57,155,000 - 57,212,500 (-)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A57,155,000 - 57,212,500 (-)EnsemblpanPan2panpan1.1
EFEMP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11056,632,801 - 56,694,872 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1056,579,899 - 56,787,187 (-)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha1056,589,822 - 56,651,875 (-)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.01057,637,641 - 57,699,724 (-)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1057,637,642 - 57,699,051 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11057,338,037 - 57,400,109 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01057,617,689 - 57,679,576 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01057,909,175 - 57,970,591 (-)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Efemp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629226,356,792 - 26,411,638 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364912,159,096 - 2,214,677 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049364912,159,654 - 2,214,480 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EFEMP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl385,407,677 - 85,473,252 (+)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1385,407,677 - 85,473,251 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2390,132,118 - 90,197,711 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EFEMP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11450,989,553 - 51,048,149 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1450,989,795 - 51,048,708 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366604560,671,542 - 60,729,463 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Efemp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248335,654,016 - 5,723,519 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046248335,654,805 - 5,722,185 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
Efemp1
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v11196,427,124 - 96,494,746 (-)NCBIRrattus_CSIRO_v1

miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:242
Count of miRNA genes:156
Interacting mature miRNAs:176
Transcripts:ENSRNOT00000004764
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
634328Hc5Hypercalciuria QTL 52.3urine calcium amount (VT:0002985)urine calcium excretion rate (CMO:0000763)1462398852107398852Rat
1641900Alcrsp11Alcohol response QTL 11alcohol metabolism trait (VT:0015089)blood ethanol level (CMO:0000535)1474255551109089856Rat
1582259Gluco23Glucose level QTL 233.10.0008blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)1474255551109089856Rat

Markers in Region
RH128749  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.214102,689,721 - 102,689,926 (+)MAPPERmRatBN7.2
Rnor_6.014113,294,688 - 113,294,892NCBIRnor6.0
Rnor_5.014112,984,501 - 112,984,705UniSTSRnor5.0
RGSC_v3.414109,828,328 - 109,828,532UniSTSRGSC3.4
Celera14101,587,619 - 101,587,823UniSTS
Cytogenetic Map14q22UniSTS
AU049307  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.214102,649,263 - 102,649,455 (+)MAPPERmRatBN7.2
Rnor_6.014113,254,247 - 113,254,438NCBIRnor6.0
Rnor_5.014112,944,060 - 112,944,251UniSTSRnor5.0
RGSC_v3.414109,787,887 - 109,788,078UniSTSRGSC3.4
Celera14101,547,225 - 101,547,416UniSTS
Cytogenetic Map14q22UniSTS


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
15 12 67 163 91 90 59 35 59 6 298 135 11 142 81 92 31 17 17

Sequence


Ensembl Acc Id: ENSRNOT00000004764   ⟹   ENSRNOP00000004764
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl14106,811,810 - 106,892,808 (+)Ensembl
mRatBN7.2 Ensembl14102,610,908 - 102,690,018 (+)Ensembl
Rnor_6.0 Ensembl14113,202,419 - 113,295,014 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000100871   ⟹   ENSRNOP00000086654
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl14106,812,844 - 106,892,808 (+)Ensembl
mRatBN7.2 Ensembl14102,611,873 - 102,690,018 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000101622   ⟹   ENSRNOP00000088163
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl14106,802,304 - 106,892,808 (+)Ensembl
mRatBN7.2 Ensembl14102,611,053 - 102,690,018 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000142978   ⟹   ENSRNOP00000111750
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl14106,811,850 - 106,892,808 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000157765   ⟹   ENSRNOP00000104855
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8 Ensembl14106,811,818 - 106,892,808 (+)Ensembl
RefSeq Acc Id: NM_001012039   ⟹   NP_001012039
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr814106,811,864 - 106,890,961 (+)NCBI
mRatBN7.214102,610,908 - 102,690,024 (+)NCBI
Rnor_6.014113,202,445 - 113,294,990 (+)NCBI
Rnor_5.014112,892,387 - 112,902,495 (+)NCBI
Rnor_5.014112,961,348 - 112,984,803 (+)NCBI
RGSC_v3.414109,733,625 - 109,828,630 (+)RGD
Celera14101,510,577 - 101,587,921 (+)RGD
Sequence:
RefSeq Acc Id: XM_008770456   ⟹   XP_008768678
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr814106,811,783 - 106,890,961 (+)NCBI
mRatBN7.214102,610,828 - 102,690,027 (+)NCBI
Rnor_6.014113,202,382 - 113,294,993 (+)NCBI
Sequence:
RefSeq Acc Id: XM_008770457   ⟹   XP_008768679
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr814106,811,769 - 106,890,961 (+)NCBI
mRatBN7.214102,610,813 - 102,690,027 (+)NCBI
Rnor_6.014113,202,382 - 113,294,993 (+)NCBI
Sequence:
RefSeq Acc Id: XM_039092115   ⟹   XP_038948043
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr814106,812,078 - 106,890,961 (+)NCBI
mRatBN7.214102,611,054 - 102,690,027 (+)NCBI
RefSeq Acc Id: XM_039092117   ⟹   XP_038948045
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr814106,811,799 - 106,890,961 (+)NCBI
mRatBN7.214102,610,844 - 102,690,027 (+)NCBI
RefSeq Acc Id: XM_063273282   ⟹   XP_063129352
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr814106,811,854 - 106,890,961 (+)NCBI
RefSeq Acc Id: XM_063273283   ⟹   XP_063129353
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr814106,811,769 - 106,890,961 (+)NCBI
RefSeq Acc Id: NP_001012039   ⟸   NM_001012039
- Peptide Label: precursor
- UniProtKB: O35568 (UniProtKB/Swiss-Prot),   Q6AXN2 (UniProtKB/TrEMBL),   D4A080 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_008768678   ⟸   XM_008770456
- Peptide Label: isoform X1
- UniProtKB: O35568 (UniProtKB/Swiss-Prot),   Q6AXN2 (UniProtKB/TrEMBL),   D4A080 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_008768679   ⟸   XM_008770457
- Peptide Label: isoform X1
- UniProtKB: O35568 (UniProtKB/Swiss-Prot),   Q6AXN2 (UniProtKB/TrEMBL),   D4A080 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000004764   ⟸   ENSRNOT00000004764
RefSeq Acc Id: XP_038948045   ⟸   XM_039092117
- Peptide Label: isoform X2
- UniProtKB: O35568 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_038948043   ⟸   XM_039092115
- Peptide Label: isoform X1
- UniProtKB: O35568 (UniProtKB/Swiss-Prot),   D4A080 (UniProtKB/TrEMBL),   Q6AXN2 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSRNOP00000086654   ⟸   ENSRNOT00000100871
Ensembl Acc Id: ENSRNOP00000088163   ⟸   ENSRNOT00000101622
RefSeq Acc Id: XP_063129353   ⟸   XM_063273283
- Peptide Label: isoform X2
- UniProtKB: O35568 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_063129352   ⟸   XM_063273282
- Peptide Label: isoform X1
- UniProtKB: O35568 (UniProtKB/Swiss-Prot),   D4A080 (UniProtKB/TrEMBL),   Q6AXN2 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSRNOP00000104855   ⟸   ENSRNOT00000157765
Ensembl Acc Id: ENSRNOP00000111750   ⟸   ENSRNOT00000142978
Protein Domains
EGF-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O35568-F1-model_v2 AlphaFold O35568 1-493 view protein structure

Transcriptome

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

Promoters
RGD ID:13699529
Promoter ID:EPDNEW_R10053
Type:initiation region
Name:Efemp1_1
Description:EGF containing fibulin extracellular matrix protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.014113,202,430 - 113,202,490EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1308528 AgrOrtholog
BioCyc Gene G2FUF-14683 BioCyc
Ensembl Genes ENSRNOG00000003553 Ensembl, ENTREZGENE
Ensembl Transcript ENSRNOT00000004764 ENTREZGENE
  ENSRNOT00000142978 ENTREZGENE
  ENSRNOT00000157765 ENTREZGENE
Gene3D-CATH Laminin UniProtKB/Swiss-Prot
IMAGE_CLONE IMAGE:7121509 IMAGE-MGC_LOAD
InterPro cEGF UniProtKB/Swiss-Prot
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot
  EGF-like_dom UniProtKB/Swiss-Prot
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot
  Fibulin_C UniProtKB/Swiss-Prot
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot
  Nephronectin_domain UniProtKB/Swiss-Prot
  NOTCH1_EGF-like UniProtKB/Swiss-Prot
MGC_CLONE MGC:95010 IMAGE-MGC_LOAD
NCBI Gene 305604 ENTREZGENE
PANTHER PA14 DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot
  UROMODULIN-LIKE UniProtKB/Swiss-Prot
Pfam cEGF UniProtKB/Swiss-Prot
  EGF_CA UniProtKB/Swiss-Prot
  Fibulin_C UniProtKB/Swiss-Prot
PhenoGen Efemp1 PhenoGen
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot
  EGF_2 UniProtKB/Swiss-Prot
  EGF_3 UniProtKB/Swiss-Prot
  EGF_CA UniProtKB/Swiss-Prot
RatGTEx ENSRNOG00000003553 RatGTEx
SMART EGF UniProtKB/Swiss-Prot
  EGF_CA UniProtKB/Swiss-Prot
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot
  SSF57184 UniProtKB/Swiss-Prot
UniProt A0A8I6A1M7_RAT UniProtKB/TrEMBL
  A0A8I6A7G5_RAT UniProtKB/TrEMBL
  A0ABK0LMG7_RAT UniProtKB/TrEMBL
  A0ABK0LYY7_RAT UniProtKB/TrEMBL
  A0ABZ3NN87_RAT UniProtKB/TrEMBL
  D4A080 ENTREZGENE
  FBLN3_RAT UniProtKB/Swiss-Prot, ENTREZGENE
  Q6AXN2 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2025-11-13 Efemp1  EGF-like fibulin extracellular matrix protein 1  Efemp1  EGF containing fibulin extracellular matrix protein 1  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2017-10-19 Efemp1  EGF containing fibulin extracellular matrix protein 1  Efemp1  EGF-containing fibulin-like extracellular matrix protein 1  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2008-10-17 Efemp1  EGF-containing fibulin-like extracellular matrix protein 1  Efemp1  epidermal growth factor-containing fibulin-like extracellular matrix protein 1  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2005-12-06 Efemp1  epidermal growth factor-containing fibulin-like extracellular matrix protein 1  Efemp1_predicted  epidermal growth factor-containing fibulin-like extracellular matrix protein 1 (predicted)  Symbol and Name updated 1559027 APPROVED
2005-01-12 Efemp1_predicted  epidermal growth factor-containing fibulin-like extracellular matrix protein 1 (predicted)      Symbol and Name status set to approved 70820 APPROVED