Details for: EFEMP1

Gene ID: 2202

Symbol: EFEMP1

Ensembl ID: ENSG00000115380

Description: EGF containing fibulin extracellular matrix protein 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 4.41
    Marker Score: 3625
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.9
    Marker Score: 846
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 2.69
    Marker Score: 7048
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 2.66
    Marker Score: 2268
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 2.6
    Marker Score: 3126
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.36
    Marker Score: 50449
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.36
    Marker Score: 10186
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 2.33
    Marker Score: 9166
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 2.31
    Marker Score: 740
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 2.24
    Marker Score: 763
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 2.23
    Marker Score: 1743
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 2.1
    Marker Score: 483
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 1.97
    Marker Score: 1083
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.93
    Marker Score: 8070
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: 1.83
    Marker Score: 785
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 1.79
    Marker Score: 745
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 1.78
    Marker Score: 1168
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 1.65
    Marker Score: 941
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.62
    Marker Score: 1408
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.57
    Marker Score: 1904
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.54
    Marker Score: 13352
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 1.52
    Marker Score: 20080
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.52
    Marker Score: 24380
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 1.49
    Marker Score: 937
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167589
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.43
    Marker Score: 48589
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 1.42
    Marker Score: 354
  • Cell Name: prostate stromal cell (CL0002622)
    Fold Change: 1.41
    Marker Score: 354
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.41
    Marker Score: 348
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.39
    Marker Score: 1746
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.37
    Marker Score: 675
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 1.35
    Marker Score: 604
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.35
    Marker Score: 2162
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.34
    Marker Score: 851
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.33
    Marker Score: 384
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 1.33
    Marker Score: 1282
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 1.3
    Marker Score: 522
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.27
    Marker Score: 839
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 1.24
    Marker Score: 1708
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.23
    Marker Score: 8020
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.22
    Marker Score: 5080.5
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.19
    Marker Score: 580
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.19
    Marker Score: 1249
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.16
    Marker Score: 774
  • Cell Name: adipose microvascular endothelial cell (CL2000072)
    Fold Change: 1.15
    Marker Score: 341
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.14
    Marker Score: 8499
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.1
    Marker Score: 1112
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 1.09
    Marker Score: 688
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 1.09
    Marker Score: 278
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.09
    Marker Score: 2211
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 1.08
    Marker Score: 5303.5
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.06
    Marker Score: 11924
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.06
    Marker Score: 1362
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 1.05
    Marker Score: 273
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 1.05
    Marker Score: 5526
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.05
    Marker Score: 612
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 1.04
    Marker Score: 1448
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 1.04
    Marker Score: 553.5
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 1.04
    Marker Score: 1599
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 1.03
    Marker Score: 2362
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.02
    Marker Score: 1699
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 1.02
    Marker Score: 3519
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.02
    Marker Score: 681
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71740
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47964
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.99
    Marker Score: 1900
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30402
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.96
    Marker Score: 599
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.95
    Marker Score: 243
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.95
    Marker Score: 1800
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.94
    Marker Score: 2525.5
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.94
    Marker Score: 440
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.94
    Marker Score: 1965
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.94
    Marker Score: 1095.5
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.94
    Marker Score: 445
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.94
    Marker Score: 992
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 0.93
    Marker Score: 263
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.91
    Marker Score: 511
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 0.91
    Marker Score: 1127
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2727
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.91
    Marker Score: 204
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 0.9
    Marker Score: 503
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.9
    Marker Score: 210
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 0.89
    Marker Score: 303
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.88
    Marker Score: 1031
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.88
    Marker Score: 1442
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.88
    Marker Score: 13719
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.87
    Marker Score: 5257
  • Cell Name: reticular cell (CL0000432)
    Fold Change: 0.87
    Marker Score: 319
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5262
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.86
    Marker Score: 474
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.86
    Marker Score: 4910
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.85
    Marker Score: 2087
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.84
    Marker Score: 644
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.82
    Marker Score: 2243
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 0.81
    Marker Score: 1617
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 0.8
    Marker Score: 490
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.79
    Marker Score: 725
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.78
    Marker Score: 320

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Other Information

**Key characteristics:** * EFEMP1 is a secreted protein that is expressed in a variety of cell types in the eye. * It is a transmembrane protein that is composed of a single extracellular domain that is responsible for its binding to collagenous and proteoglycan fibers. * EFEMP1 is a key component of the ECM of the eye, where it is involved in the formation and maintenance of elastic fibers. * It is also involved in the regulation of cell migration and differentiation, and in the development of the visual system. **Pathways and functions:** * EFEMP1 is involved in the regulation of cell migration and differentiation. It is expressed in the developing eye, where it is required for the migration of stem cells and the formation of new blood vessels. * It is also expressed in the adult eye, where it helps to maintain the integrity of the ECM and to regulate cell migration and differentiation. * EFEMP1 is a key regulator of the development of the visual system. It is expressed in the developing eye, where it is involved in the formation of the optic nerve and the development of the retina. * It is also expressed in the adult eye, where it helps to maintain the function of the visual system. **Clinical significance:** Mutations in the EFEMP1 gene have been linked to a number of eye disorders, including cataracts, glaucoma, and macular degeneration. These disorders are caused by mutations that disrupt the function of EFEMP1, leading to the loss of function of the protein and the development of the associated eye disorders. EFEMP1 is a promising target for the treatment of eye diseases. By blocking the activity of EFEMP1, it is possible to restore the function of the eye and prevent the development of eye diseases.

Genular Protein ID: 1770017341

Symbol: FBLN3_HUMAN

Name: EGF-containing fibulin-like extracellular matrix protein 1

UniProtKB Accession Codes:

Q12805 A8K3I4 B4DW75 D6W5D2 Q541U7

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 20 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 17 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 4 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 5 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 SMART 2 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7799918

Title: An overexpressed gene transcript in senescent and quiescent human fibroblasts encoding a novel protein in the epidermal growth factor-like repeat family stimulates DNA synthesis.

PubMed ID: 7799918

DOI: 10.1128/mcb.15.1.120

PubMed ID: 8812496

Title: Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillin.

PubMed ID: 8812496

DOI: 10.1006/geno.1996.0402

PubMed ID: 10601734

Title: Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4.

PubMed ID: 10601734

DOI: 10.1016/s0945-053x(99)00038-4

PubMed ID: 11262647

Title: EFEMP1 is not associated with sporadic early onset drusen.

PubMed ID: 11262647

DOI: 10.1076/opge.22.1.27.2239

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12242346

Title: Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration.

PubMed ID: 12242346

DOI: 10.1073/pnas.202491599

PubMed ID: 15123717

Title: Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1). Implications for macular degenerations.

PubMed ID: 15123717

DOI: 10.1074/jbc.m403026200

PubMed ID: 19804359

Title: EFEMP1 binds the EGF receptor and activates MAPK and Akt pathways in pancreatic carcinoma cells.

PubMed ID: 19804359

DOI: 10.1515/bc.2009.140

PubMed ID: 19275936

Title: ECM1 interacts with fibulin-3 and the beta 3 chain of laminin 332 through its serum albumin subdomain-like 2 domain.

PubMed ID: 19275936

DOI: 10.1016/j.matbio.2009.02.003

PubMed ID: 19887559

Title: Fibulin-3 is uniquely upregulated in malignant gliomas and promotes tumor cell motility and invasion.

PubMed ID: 19887559

DOI: 10.1158/1541-7786.mcr-09-0207

PubMed ID: 20005202

Title: Fibulin-3 negatively regulates chondrocyte differentiation.

PubMed ID: 20005202

DOI: 10.1016/j.bbrc.2009.12.034

PubMed ID: 22905912

Title: Resveratrol-induced changes of the human adipocyte secretion profile.

PubMed ID: 22905912

DOI: 10.1021/pr300539b

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 10369267

Title: A single EFEMP1 mutation associated with both malattia Leventinese and Doyne honeycomb retinal dystrophy.

PubMed ID: 10369267

DOI: 10.1038/9722

PubMed ID: 11384588

Title: Dominant radial drusen and Arg345Trp EFEMP1 mutation.

PubMed ID: 11384588

DOI: 10.1016/s0002-9394(00)00926-0

PubMed ID: 17666404

Title: The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice.

PubMed ID: 17666404

DOI: 10.1093/hmg/ddm198

Sequence Information:

  • Length: 493
  • Mass: 54641
  • Checksum: 128CA5ED140DF414
  • Sequence:
    • MLKALFLTML TLALVKSQDT EETITYTQCT DGYEWDPVRQ QCKDIDECDI VPDACKGGMK 
CVNHYGGYLC LPKTAQIIVN NEQPQQETQP AEGTSGATTG VVAASSMATS GVLPGGGFVA 
SAAAVAGPEM QTGRNNFVIR RNPADPQRIP SNPSHRIQCA AGYEQSEHNV CQDIDECTAG 
THNCRADQVC INLRGSFACQ CPPGYQKRGE QCVDIDECTI PPYCHQRCVN TPGSFYCQCS 
PGFQLAANNY TCVDINECDA SNQCAQQCYN ILGSFICQCN QGYELSSDRL NCEDIDECRT 
SSYLCQYQCV NEPGKFSCMC PQGYQVVRSR TCQDINECET TNECREDEMC WNYHGGFRCY 
PRNPCQDPYI LTPENRCVCP VSNAMCRELP QSIVYKYMSI RSDRSVPSDI FQIQATTIYA 
NTINTFRIKS GNENGEFYLR QTSPVSAMLV LVKSLSGPRE HIVDLEMLTV SSIGTFRTSS 
VLRLTIIVGP FSF

Genular Protein ID: 4211437223

Symbol: A0A0S2Z3V1_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0S2Z3V1

Database IDs:

ARBA 4 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 4 GO 1 Gene3D 1 GenomeRNAi 1 IntAct 1 InterPro 5 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 5 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 1 RefSeq 2 SAM 1 SMART 2 SUPFAM 2

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 413
  • Mass: 45723
  • Checksum: 7A105B1E64DFEF2C
  • Sequence:
    • MLKALFLTML TLALVKSQDT EETITYTQCT DGYEWDPVRQ QCKDIDECDI VPDACKGGMK 
CVNHYGGYLC LPKTAQIIVN NEQPQQETQP AEGTSGATTG VVAASSMATS GVLPGGGFVA 
SAAAVAGPEM QTGRNNFVIR RNPADPQRIP SNPSHRIQCA AGYEQSEHNV CQDIDECTAG 
THNCRADQVC INLRGSFACQ CPPGYQKRGE QCVDIDECRT SSYLCQYQCV NEPGKFSCMC 
PQGYQVVRSR TCQDINECET TNECREDEMC WNYHGGFRCY PRNPCQDPYI LTPENRCVCP 
VSNAMCRELP QSIVYKYMSI RSDRSVPSDI FQIQATTIYA NTINTFRIKS GNENGEFYLR 
QTSPVSAMLV LVKSLSGPRE HIVDLEMLTV SSIGTFRTSS VLRLTIIVGP FSF

Genular Protein ID: 1417063312

Symbol: B2R6M6_HUMAN

Name: N/A

UniProtKB Accession Codes:

B2R6M6

Database IDs:

ARBA 5 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 EMBL 2 GO 1 Gene3D 1 Genevisible 1 GenomeRNAi 1 InterPro 6 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 5 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 2 RefSeq 1 SAM 1 SMART 2 SUPFAM 2

Sequence Information:

  • Length: 493
  • Mass: 54627
  • Checksum: FE5CA5F5AFAEECAF
  • Sequence:
    • MLKALFLTML TLALVKSQDT EETITYTQCT DGYEWDPVRQ QCKDIDECDI VPDACKGGMK 
CVNHYGGYLC LPKTAQIIVN NEQPQQETQP AEGTSGATTG VVAASSMATS GVLPGGGFVA 
SAAAVAGPEM QTGRNNFVIR RNPADPQRIP SNPSHRIQCA AGYEQSEHNV CQDIDECTAG 
THNCRADQVC INLRGSFACQ CPPGYQKRGE QCVDIDECTI PPYCHQRCVN TPGSFYCQCS 
PGFQLAANNY TCVDINECDA SNQCAQQCYN ILGSFICQCN QGYELSSDRL NCEDIDECRT 
SSYLCQYQCV NEPGKFSCMC PQGYQVVRSR TCQDINECET TNECREDEMC WNYHGGFRCY 
PRNPCQDPYI LTPENRCVCP VSNAMCRELP QSIVYKYMSI RSDRSVPSDI FQIQATTVYA 
NTINTFRIKS GNENGEFYLR QTSPVSAMLV LVKSLSGPRE HIVDLEMLTV SSIGTFRTSS 
VLRLTIIVGP FSF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.