Symbol:
Efemp1
Name:
EGF containing fibulin extracellular matrix protein 1
RGD ID:
18917840
Description:
ENCODES a protein that exhibits calcium ion binding (inferred); epidermal growth factor receptor activity (inferred); epidermal growth factor receptor binding (inferred); INVOLVED IN negative regulation of neuron projection development (ortholog); peptidyl-tyrosine phosphorylation (ortholog); positive regulation of cell population proliferation (ortholog); ASSOCIATED WITH adenocarcinoma (ortholog); adenoma (ortholog); Animal Mammary Neoplasms (ortholog); FOUND IN basement membrane (ortholog)
Type:
protein-coding
RefSeq Status:
MODEL
Previously known as:
EGF containing fibulin like extracellular matrix protein 1; EGF-containing fibulin-like extracellular matrix protein 1
RGD Orthologs
Alliance Orthologs
More Info
more info ...
More Info
Latest Assembly:
HetGla 1.0 - Naked Mole-Rat female 1.0 Assembly
Position:
JBrowse:
View Region in Genome Browser (JBrowse)
Model
Efemp1 Naked Mole-Rat bladder diverticulum ISO RGD:1318351 8554872 ClinVar Annotator: match by term: Diverticulum of bladder ClinVar PMID:25741868|PMID:31792352 Efemp1 Naked Mole-Rat blindness ISO RGD:1318351 8554872 ClinVar Annotator: match by term: Blindness ClinVar PMID:25741868 Efemp1 Naked Mole-Rat connective tissue disease ISO RGD:1318351 8554872 ClinVar Annotator: match by term: Connective tissue disorder ClinVar PMID:22031286|PMID:25741868|PMID:31792352|PMID:33807164|PMID:34923728 Efemp1 Naked Mole-Rat cutis laxa ISO RGD:1318351 8554872 ClinVar Annotator: match by term: Cutis laxa ClinVar PMID:25741868|PMID:33807164 Efemp1 Naked Mole-Rat CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1D ISO RGD:1318351 8554872 ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1d ClinVar PMID:22489068|PMID:25741868|PMID:28492532|PMID:31792352|PMID:32006683|PMID:33807164|PMID:35998264 Efemp1 Naked Mole-Rat Doyne honeycomb retinal dystrophy ISO RGD:1318351 8554872 ClinVar Annotator: match by term: Doyne honeycomb degeneration of retina | ClinVar Annotator: match by more ... ClinVar PMID:10369267|PMID:11384588|PMID:11389162|PMID:12242346|PMID:15785976|PMID:17666404|PMID:18791549|PMID:22031286|PMID:22159686|PMID:25077532|PMID:25111685|PMID:25741868|PMID:26162006|PMID:26427406|PMID:27777122|PMID:28492532|PMID:30541486|PMID:33019987|PMID:33542268|PMID:33546218|PMID:33689237|PMID:33909993|PMID:34923728|PMID:36460718 Efemp1 Naked Mole-Rat fundus dystrophy ISO RGD:1318351 8554872 ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10369267|PMID:11384588|PMID:11389162|PMID:12242346|PMID:15785976|PMID:17666404|PMID:18791549|PMID:22031286|PMID:22159686|PMID:25077532|PMID:25111685|PMID:25741868|PMID:26162006|PMID:26427406|PMID:27777122|PMID:28492532|PMID:30541486|PMID:33019987|PMID:33542268|PMID:33546218|PMID:33689237|PMID:33909993|PMID:34923728|PMID:36460718 Efemp1 Naked Mole-Rat genetic disease ISO RGD:1318351 8554872 ClinVar Annotator: match by term: Inborn genetic diseases ClinVar PMID:25741868|PMID:28492532 Efemp1 Naked Mole-Rat Glaucoma 1, Open Angle, H ISO RGD:1318351 8554872 ClinVar Annotator: match by term: Glaucoma 1, open angle, H ClinVar PMID:25741868|PMID:26162006|PMID:28492532|PMID:34923728 Efemp1 Naked Mole-Rat juvenile glaucoma ISO RGD:1318351 8554872 ClinVar Annotator: match by term: Glaucoma of childhood ClinVar PMID:28492532|PMID:34923728 Efemp1 Naked Mole-Rat Marfan Syndrome, Autosomal Recessive ISO RGD:1318351 8554872 ClinVar Annotator: match by term: Recessive Marfanoid Syndrome with Severe Herniation ClinVar PMID:22489068|PMID:28492532|PMID:32006683|PMID:35998264 Efemp1 Naked Mole-Rat optic atrophy ISO RGD:1318351 8554872 ClinVar Annotator: match by term: Optic atrophy ClinVar PMID:25741868|PMID:28492532 Efemp1 Naked Mole-Rat Radial Drusen, Autosomal Dominant ISO RGD:1318351 8554872 ClinVar Annotator: match by term: DRUSEN, RADIAL, AUTOSOMAL DOMINANT ClinVar PMID:28492532
Efemp1
EFEMP1 Human Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl GRCh38 2 55,865,967 - 55,923,782 (-) NCBI GRCh38 GRCh38 hg38 GRCh38 GRCh38.p14 Ensembl 2 55,865,967 - 55,924,139 (-) Ensembl GRCh38 hg38 GRCh38 GRCh37 2 56,093,102 - 56,150,917 (-) NCBI GRCh37 GRCh37 hg19 GRCh37 Build 36 2 55,946,606 - 56,004,436 (-) NCBI NCBI36 Build 36 hg18 NCBI36 Build 34 2 56,004,748 - 56,060,856 NCBI Celera 2 55,933,455 - 55,991,286 (-) NCBI Celera Cytogenetic Map 2 p16.1 NCBI HuRef 2 55,828,195 - 55,886,081 (-) NCBI HuRef CHM1_1 2 56,023,033 - 56,081,234 (-) NCBI CHM1_1 T2T-CHM13v2.0 2 55,862,877 - 55,920,674 (-) NCBI T2T-CHM13v2.0
Efemp1 Mouse Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl GRCm39 11 28,803,154 - 28,876,743 (+) NCBI GRCm39 GRCm39 mm39 GRCm39 Ensembl 11 28,803,204 - 28,876,743 (+) Ensembl GRCm39 Ensembl GRCm38 11 28,853,154 - 28,926,743 (+) NCBI GRCm38 GRCm38 mm10 GRCm38 GRCm38.p6 Ensembl 11 28,853,204 - 28,926,743 (+) Ensembl GRCm38 mm10 GRCm38 MGSCv37 11 28,753,205 - 28,826,743 (+) NCBI GRCm37 MGSCv37 mm9 NCBIm37 MGSCv36 11 28,767,773 - 28,826,737 (+) NCBI MGSCv36 mm8 Celera 11 31,227,166 - 31,304,265 (+) NCBI Celera Cytogenetic Map 11 A3.3 NCBI cM Map 11 16.32 NCBI
Efemp1 Rat Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl GRCr8 14 106,811,769 - 106,890,961 (+) NCBI GRCr8 mRatBN7.2 14 102,610,813 - 102,690,027 (+) NCBI mRatBN7.2 mRatBN7.2 mRatBN7.2 Ensembl 14 102,610,908 - 102,690,018 (+) Ensembl mRatBN7.2 Ensembl UTH_Rnor_SHR_Utx 14 106,946,350 - 107,025,480 (+) NCBI Rnor_SHR UTH_Rnor_SHR_Utx UTH_Rnor_SHRSP_BbbUtx_1.0 14 108,182,972 - 108,262,217 (+) NCBI Rnor_SHRSP UTH_Rnor_SHRSP_BbbUtx_1.0 UTH_Rnor_WKY_Bbb_1.0 14 104,655,396 - 104,734,632 (+) NCBI Rnor_WKY UTH_Rnor_WKY_Bbb_1.0 Rnor_6.0 14 113,202,382 - 113,294,993 (+) NCBI Rnor6.0 Rnor_6.0 rn6 Rnor6.0 Rnor_6.0 Ensembl 14 113,202,419 - 113,295,014 (+) Ensembl Rnor6.0 rn6 Rnor6.0 Rnor_5.0 14 112,892,387 - 112,902,495 (+) NCBI Rnor5.0 Rnor_5.0 rn5 Rnor5.0 Rnor_5.0 14 112,961,348 - 112,984,803 (+) NCBI Rnor5.0 Rnor_5.0 rn5 Rnor5.0 RGSC_v3.4 14 109,733,625 - 109,828,630 (+) NCBI RGSC3.4 RGSC_v3.4 rn4 RGSC3.4 RGSC_v3.1 14 109,759,971 - 109,854,973 (+) NCBI Celera 14 101,510,577 - 101,587,921 (+) NCBI Celera Cytogenetic Map 14 q22 NCBI
Efemp1 Chinchilla Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl ChiLan1.0 Ensembl NW_004955424 27,181,099 - 27,240,446 (+) Ensembl ChiLan1.0 ChiLan1.0 NW_004955424 27,181,717 - 27,240,067 (+) NCBI ChiLan1.0 ChiLan1.0
EFEMP1 Bonobo Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl NHGRI_mPanPan1-v2 12 70,407,006 - 70,464,773 (+) NCBI NHGRI_mPanPan1-v2 NHGRI_mPanPan1 2A 70,410,928 - 70,468,816 (+) NCBI NHGRI_mPanPan1 Mhudiblu_PPA_v0 2A 56,017,678 - 56,076,059 (-) NCBI Mhudiblu_PPA_v0 Mhudiblu_PPA_v0 panPan3 PanPan1.1 2A 57,155,000 - 57,212,500 (-) NCBI panpan1.1 PanPan1.1 panPan2 PanPan1.1 Ensembl 2A 57,155,000 - 57,212,500 (-) Ensembl panpan1.1 panPan2
EFEMP1 Dog Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl CanFam3.1 10 56,632,801 - 56,694,872 (-) NCBI CanFam3.1 CanFam3.1 canFam3 CanFam3.1 CanFam3.1 Ensembl 10 56,579,899 - 56,787,187 (-) Ensembl CanFam3.1 canFam3 CanFam3.1 Dog10K_Boxer_Tasha 10 56,589,822 - 56,651,875 (-) NCBI Dog10K_Boxer_Tasha ROS_Cfam_1.0 10 57,637,641 - 57,699,724 (-) NCBI ROS_Cfam_1.0 ROS_Cfam_1.0 Ensembl 10 57,637,642 - 57,699,051 (-) Ensembl ROS_Cfam_1.0 Ensembl UMICH_Zoey_3.1 10 57,338,037 - 57,400,109 (-) NCBI UMICH_Zoey_3.1 UNSW_CanFamBas_1.0 10 57,617,689 - 57,679,576 (-) NCBI UNSW_CanFamBas_1.0 UU_Cfam_GSD_1.0 10 57,909,175 - 57,970,591 (-) NCBI UU_Cfam_GSD_1.0
Efemp1 Squirrel Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl HiC_Itri_2 NW_024406292 26,356,792 - 26,411,638 (+) NCBI HiC_Itri_2 SpeTri2.0 Ensembl NW_004936491 2,159,096 - 2,214,677 (-) Ensembl SpeTri2.0 SpeTri2.0 Ensembl SpeTri2.0 NW_004936491 2,159,654 - 2,214,480 (-) NCBI SpeTri2.0 SpeTri2.0 SpeTri2.0
EFEMP1 Pig Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl Sscrofa11.1 Ensembl 3 85,407,677 - 85,473,252 (+) Ensembl Sscrofa11.1 susScr11 Sscrofa11.1 Sscrofa11.1 3 85,407,677 - 85,473,251 (+) NCBI Sscrofa11.1 Sscrofa11.1 susScr11 Sscrofa11.1 Sscrofa10.2 3 90,132,118 - 90,197,711 (+) NCBI Sscrofa10.2 Sscrofa10.2 susScr3
EFEMP1 Green Monkey Assembly Chr Position (strand) Source Genome Browsers JBrowse NCBI UCSC Ensembl ChlSab1.1 14 50,989,553 - 51,048,149 (+) NCBI ChlSab1.1 ChlSab1.1 chlSab2 ChlSab1.1 Ensembl 14 50,989,795 - 51,048,708 (+) Ensembl ChlSab1.1 ChlSab1.1 Ensembl chlSab2 Vero_WHO_p1.0 NW_023666045 60,671,542 - 60,729,463 (-) NCBI Vero_WHO_p1.0 Vero_WHO_p1.0
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Click on a value in the shaded box below the category label to view a detailed expression data table for that system.
Ensembl Acc Id:
ENSHGLT00000010084 ⟹ ENSHGLP00000009973
Type:
CODING
Position:
Naked Mole-Rat Assembly Chr Position (strand) Source HetGla_female_1.0 Ensembl NW_004624833 5,654,016 - 5,723,519 (+) Ensembl
RefSeq Acc Id:
XM_004867256 ⟹ XP_004867313
Type:
CODING
Position:
Naked Mole-Rat Assembly Chr Position (strand) Source HetGla 1.0 NW_004624833 5,654,805 - 5,722,185 (+) NCBI
RefSeq Acc Id:
XM_021246278 ⟹ XP_021101937
Type:
CODING
Position:
Naked Mole-Rat Assembly Chr Position (strand) Source HetGla 1.0 NW_004624833 5,654,972 - 5,721,734 (+) NCBI
RefSeq Acc Id:
XM_021246279 ⟹ XP_021101938
Type:
CODING
Position:
Naked Mole-Rat Assembly Chr Position (strand) Source HetGla 1.0 NW_004624833 5,655,220 - 5,721,734 (+) NCBI
RefSeq Acc Id:
XP_004867313 ⟸ XM_004867256
- UniProtKB:
A0AAX6S1I2 (UniProtKB/TrEMBL), A0A0P6JGB6 (UniProtKB/TrEMBL)
RefSeq Acc Id:
XP_021101937 ⟸ XM_021246278
- UniProtKB:
A0AAX6S1I2 (UniProtKB/TrEMBL), A0A0P6JGB6 (UniProtKB/TrEMBL)
RefSeq Acc Id:
XP_021101938 ⟸ XM_021246279
- UniProtKB:
A0AAX6S1I2 (UniProtKB/TrEMBL), A0A0P6JGB6 (UniProtKB/TrEMBL)
Ensembl Acc Id:
ENSHGLP00000009973 ⟸ ENSHGLT00000010084
