Efemp1 (epidermal growth factor-containing fibulin-like extracellular matrix protein 1) - Rat Genome Database

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Gene: Efemp1 (epidermal growth factor-containing fibulin-like extracellular matrix protein 1) Mus musculus
Analyze
Symbol: Efemp1
Name: epidermal growth factor-containing fibulin-like extracellular matrix protein 1
RGD ID: 1318352
MGI Page MGI
Description: Predicted to enable epidermal growth factor receptor activity and epidermal growth factor receptor binding activity. Predicted to be involved in several processes, including epidermal growth factor receptor signaling pathway; negative regulation of chondrocyte differentiation; and regulation of cell projection organization. Located in collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including alimentary system; brain; embryo mesenchyme; male reproductive gland or organ; and skeleton. Used to study Doyne honeycomb retinal dystrophy. Human ortholog(s) of this gene implicated in Doyne honeycomb retinal dystrophy. Orthologous to human EFEMP1 (EGF containing fibulin extracellular matrix protein 1).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: EGF-containing fibulin-like extracellular matrix protein 1; FIBL-3; fibulin-3; MGC37612
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391128,803,154 - 28,876,743 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1128,803,204 - 28,876,743 (+)EnsemblGRCm39 Ensembl
GRCm381128,853,154 - 28,926,743 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1128,853,204 - 28,926,743 (+)EnsemblGRCm38mm10GRCm38
MGSCv371128,753,205 - 28,826,743 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361128,767,773 - 28,826,737 (+)NCBIMGSCv36mm8
Celera1131,227,166 - 31,304,265 (+)NCBICelera
Cytogenetic Map11A3.3NCBI
cM Map1116.32NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
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. 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.
4. 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.
5. 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.
6. 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.
7. 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.
8. 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.
9. MGDs mouse GO annotations MGD data from the GO Consortium
10. MGD IEA MGD IEA
11. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
12. Mouse MP Annotation Import Pipeline RGD automated import pipeline
13. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
15. 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.
Additional References at PubMed
PMID:8889548   PMID:10349636   PMID:11042159   PMID:11076861   PMID:11217851   PMID:11741941   PMID:12466851   PMID:12477932   PMID:12915309   PMID:16141072   PMID:16141073   PMID:16602821  
PMID:17324935   PMID:19095964   PMID:19520159   PMID:20595023   PMID:21267068   PMID:21677750   PMID:22159717   PMID:22417325   PMID:22665518   PMID:23470560   PMID:23943789   PMID:24006456  
PMID:24194600   PMID:24887312   PMID:24952961   PMID:26816005   PMID:27626380   PMID:28071719   PMID:28264101   PMID:28383766   PMID:28622396   PMID:30146751   PMID:30550785   PMID:31095679  
PMID:34001980   PMID:35943778   PMID:37062520   PMID:37696945   PMID:38083999  


Genomics

Comparative Map Data
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 Ensembl
GRCm381128,853,154 - 28,926,743 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1128,853,204 - 28,926,743 (+)EnsemblGRCm38mm10GRCm38
MGSCv371128,753,205 - 28,826,743 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361128,767,773 - 28,826,737 (+)NCBIMGSCv36mm8
Celera1131,227,166 - 31,304,265 (+)NCBICelera
Cytogenetic Map11A3.3NCBI
cM Map1116.32NCBI
EFEMP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38255,865,967 - 55,923,782 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl255,865,967 - 55,924,139 (-)EnsemblGRCh38hg38GRCh38
GRCh37256,093,102 - 56,150,917 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36255,946,606 - 56,004,436 (-)NCBINCBI36Build 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
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr814106,811,769 - 106,890,961 (+)NCBIGRCr8
mRatBN7.214102,610,813 - 102,690,027 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl14102,610,908 - 102,690,018 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx14106,946,350 - 107,025,480 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.014108,182,972 - 108,262,217 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.014104,655,396 - 104,734,632 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.014113,202,382 - 113,294,993 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl14113,202,419 - 113,295,014 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.014112,892,387 - 112,902,495 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.014112,961,348 - 112,984,803 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.414109,733,625 - 109,828,630 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.114109,759,971 - 109,854,973 (+)NCBI
Celera14101,510,577 - 101,587,921 (+)NCBICelera
Cytogenetic Map14q22NCBI
Efemp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542427,181,099 - 27,240,446 (+)EnsemblChiLan1.0
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 (-)Ensemblpanpan1.1panPan2
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 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1056,589,822 - 56,651,875 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01057,637,641 - 57,699,724 (-)NCBIROS_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_1.0
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 (-)EnsemblSpeTri2.0SpeTri2.0 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 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
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 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
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_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248335,654,805 - 5,722,185 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Efemp1
2570 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:397
Count of miRNA genes:235
Interacting mature miRNAs:255
Transcripts:ENSMUST00000020759, ENSMUST00000124103, ENSMUST00000139713
Prediction methods: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 (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
10044008Hbnr15_mHeligmosomoides bakeri nematode resistance 15 (mouse)Not determined1122705234227232Mouse
1300599Cocrb11_mcocaine related behavior 11 (mouse)Not determined11267035536671472Mouse
27095904Scvln12_msacral vertebrae length 2, 10 week (mouse)11325000034495048Mouse
27095909Scvln6_msacral vertebrae length 2, 5 week (mouse)11325000044090827Mouse
27226798Scvln18_msacral vertebrae length 2, 16 week (mouse)11325000060690826Mouse
26884446Sklq10_mskull length QTL 10, 10 week (mouse)11325000062890826Mouse
26884453Sklq16_mskull length QTL 16, 16 week (mouse)11325000072690826Mouse
13208559Wght10_mweight 10 (mouse)11395000088890826Mouse
13208558Lgth12_mbody length 12 (mouse)11395000094890826Mouse
27226741Metcl5_mmetatarsal-calcaneal length 5, 5 week (mouse)11465000046290827Mouse
27226735Metcl16_mmetatarsal-calcaneal length 16, 16 week (mouse)11525000035090827Mouse
1357518Tgyl1_mtriglyceride level 1 (mouse)Not determined11688027733916219Mouse
1300905Scc6_mcolon tumor susceptibility 6 (mouse)Not determined11688027789019734Mouse
1300990Bits3_mbitterness sensitivity 3 (mouse)Not determined11837212142372260Mouse
27226738Metcl11_mmetatarsal-calcaneal length 11, 10 week (mouse)11885000061390826Mouse
1302171Pgia28_mproteoglycan induced arthritis 28 (mouse)Not determined11890609742906218Mouse
4141047Nilac1_mnicotine induced locomotor activity 1 (mouse)Not determined11901178043011942Mouse
13524844Ppiq9_mprepulse inhibition QTL 9 (mouse)11904999735077325Mouse
13463472Mcvq15_mmean corpuscular volume QTL 15 (mouse)111095123244951464Mouse
13463479Mchq19_mmean corpuscular hemoglobin QTL 19 (mouse)111095123244951464Mouse
26884401Huml4_mhumerus length 4, 10 week (mouse)111155000068490826Mouse
27226762Feml21_mfemur length 21, 16 week (mouse)111175000065990826Mouse
10412216Eae44_mexperimental allergic encephalomyelitis susceptibility 44 (mouse)Not determined111226863739950840Mouse
1357640Orq2_movulation rate QTL 2 (mouse)Not determined111226863768500330Mouse
4141127W3q4_mweight 3 weeks QTL 4 (mouse)Not determined1226863768500330Mouse
4141470Egq4_mearly growth QTL 4 (mouse)Not determined1226863768500330Mouse
4142109W10q2_mweight 10 weeks QTL 2 (mouse)Not determined1226863768500330Mouse
4141582Lgaq1_mlate growth adjusted QTL 1 (mouse)Not determined1226863768500330Mouse
4142308W6q3_mweight 6 weeks QTL 3 (mouse)Not determined111226863768500330Mouse
4142216Lgq1_mlate growth QTL 1 (mouse)Not determined1226863768500330Mouse
4141966Tailq1_mtail length QTL 1 (mouse)Not determined1226863768500330Mouse
1357851Scfq3_msubcutaneous fat pad weight QTL 3 (mouse)Not determined111226863768500330Mouse
1357720Kidpq1_mkidney weight percentage QTL 1 (mouse)Not determined111226863768500330Mouse
1357437Epfq4_mepididymal fat pad weight QTL 4 (mouse)Not determined111226863768500330Mouse
1559002Lmrq4_mLeishmania major resistance QTL 4 (mouse)Not determined111226863769684947Mouse
39128214Lwq20_mliver weight QTL 20 (mouse)1112268637118022724Mouse
1558945Orgwq8_morgan weight QTL 8 (mouse)Not determined111705617567078411Mouse
10053687Eae6_msusceptibility to experimental allergic encephalomyelitis 6 (mouse)Not determined111778196668500330Mouse
12801459Leuf1_mleukocyte filtration 1 (mouse)111857861652578716Mouse
12801460Intim2_mintima modifier 2 (mouse)111857861652578716Mouse
12801457Intmrm2_mintima/media ratio modifier 2 (mouse)111857861652578716Mouse
1300938Bulb3_mbulb size 3 (mouse)Not determined111857861652578716Mouse
4141894Nidd6k_mNidd6 on KK-A (mouse)Not determined1912420496897826Mouse
1300579Thypr1_mthymocyte proliferative response 1 (mouse)Not determined111928257753282715Mouse
14746971Manh70_mmandible shape 70 (mouse)111990589053905890Mouse
4141398Tgq22_mtriglyceride QTL 22 (mouse)Not determined2116340655163406Mouse
10412246Dfs2_mdental fluorosis suseptibility 2 (mouse)Not determined112180736495881231Mouse
1300607Tnbs2_mtri-nitrobenzene sulfonic acid susceptible 2 (mouse)Not determined112489805235126680Mouse
10044006Hbnr13_mHeligmosomoides bakeri nematode resistance 13 (mouse)Not determined112577262659772741Mouse
1301814Bbaa7_mB.burgdorferi-associated arthritis 7 (mouse)Not determined112601178044264695Mouse
12910801Pwbwq14_mpost-weaning body weight QTL 14 (mouse)112719805750636094Mouse
12910804Pwbwq16_mpost-weaning body weight QTL 16 (mouse)112719805750636094Mouse
12910806Pwbwq15_mpost-weaning body weight QTL 15 (mouse)112719805750636094Mouse
12910817Pwgrq20_mpost-weaning growth rate QTL 20 (mouse)112719805750636094Mouse
12910818Ogrq5_moverall growth rate QTL 5 (mouse)112719805750636094Mouse
1357844Si5lq5_mserum IGFBP-5 level QTL 5 (mouse)Not determined112816587362165976Mouse
13524848Ppiq7_mprepulse inhibition QTL 7 (mouse)112856914762569147Mouse
1301426Desp2_mdespair 2 (mouse)Not determined112870858162708700Mouse

Markers in Region
D11Mit172  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381128,852,602 - 28,852,751UniSTSGRCm38
MGSCv371128,752,602 - 28,752,751UniSTSGRCm37
Celera1131,226,555 - 31,226,712UniSTS
Cytogenetic Map11A4UniSTS
cM Map1116.0UniSTS
Whitehead Genetic1113.1UniSTS
Whitehead_YAC11 UniSTS


Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENSMUST00000020759   ⟹   ENSMUSP00000020759
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1128,803,204 - 28,876,743 (+)Ensembl
GRCm38.p6 Ensembl1128,853,204 - 28,926,743 (+)Ensembl
RefSeq Acc Id: ENSMUST00000124103
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1128,803,244 - 28,871,526 (+)Ensembl
GRCm38.p6 Ensembl1128,853,244 - 28,921,526 (+)Ensembl
RefSeq Acc Id: ENSMUST00000139713   ⟹   ENSMUSP00000114757
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1128,865,667 - 28,876,743 (+)Ensembl
GRCm38.p6 Ensembl1128,915,667 - 28,926,743 (+)Ensembl
RefSeq Acc Id: NM_146015   ⟹   NP_666127
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391128,803,205 - 28,876,743 (+)NCBI
GRCm381128,853,205 - 28,926,743 (+)ENTREZGENE
MGSCv371128,753,205 - 28,826,743 (+)RGD
Celera1131,227,166 - 31,304,265 (+)RGD
cM Map11 ENTREZGENE
Sequence:
RefSeq Acc Id: XM_006514660   ⟹   XP_006514723
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391128,803,814 - 28,876,743 (+)NCBI
GRCm381128,853,814 - 28,926,743 (+)NCBI
Sequence:
RefSeq Acc Id: XM_030245798   ⟹   XP_030101658
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391128,803,154 - 28,876,740 (+)NCBI
GRCm381128,853,154 - 28,926,740 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_666127   ⟸   NM_146015
- Peptide Label: precursor
- UniProtKB: Q6Y3N6 (UniProtKB/Swiss-Prot),   Q8BPB5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006514723   ⟸   XM_006514660
- Peptide Label: isoform X1
- UniProtKB: Q6Y3N6 (UniProtKB/Swiss-Prot),   Q8BPB5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_030101658   ⟸   XM_030245798
- Peptide Label: isoform X2
RefSeq Acc Id: ENSMUSP00000114757   ⟸   ENSMUST00000139713
RefSeq Acc Id: ENSMUSP00000020759   ⟸   ENSMUST00000020759
Protein Domains
EGF-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8BPB5-F1-model_v2 AlphaFold Q8BPB5 1-493 view protein structure

Promoters
RGD ID:8674156
Promoter ID:EPDNEW_M15109
Type:initiation region
Name:Efemp1_1
Description:Mus musculus epidermal growth factor-containing fibulin-likeextracellular matrix protein 1 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M15110  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381128,853,252 - 28,853,312EPDNEW
RGD ID:8674158
Promoter ID:EPDNEW_M15110
Type:single initiation site
Name:Efemp1_2
Description:Mus musculus epidermal growth factor-containing fibulin-likeextracellular matrix protein 1 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M15109  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381128,854,301 - 28,854,361EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:1339998 AgrOrtholog
Ensembl Genes ENSMUSG00000020467 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000020759 ENTREZGENE
  ENSMUST00000020759.12 UniProtKB/Swiss-Prot
  ENSMUST00000139713.2 UniProtKB/TrEMBL
Gene3D-CATH Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro cEGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:216616 UniProtKB/Swiss-Prot
MGD MGI:1339998 ENTREZGENE
NCBI Gene 216616 ENTREZGENE
PANTHER EGF-LIKE DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24034:SF102 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam cEGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Efemp1 PhenoGen
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP EGF/Laminin UniProtKB/TrEMBL
  SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt F6ZFS0_MOUSE UniProtKB/TrEMBL
  FBLN3_MOUSE UniProtKB/Swiss-Prot
  Q3TRR8_MOUSE UniProtKB/TrEMBL
  Q6Y3N6 ENTREZGENE
  Q8BPB5 ENTREZGENE
  Q8K0J4_MOUSE UniProtKB/TrEMBL
  Q8R1U8_MOUSE UniProtKB/TrEMBL
UniProt Secondary Q6Y3N6 UniProtKB/Swiss-Prot