• Gene id: 2202

Gene Summary

• Gene Symbol: EFEMP1   Gene   UCSC   Ensembl
• Aliases: DHRD, DRAD, FBLN3, FBNL, FIBL-3, MLVT, MTLV, S1-5
• Gene name: EGF containing fibulin extracellular matrix protein 1
• Alternate names: EGF-containing fibulin-like extracellular matrix protein 1, EGF containing fibulin like extracellular matrix protein 1, extracellular protein S1-5, fibulin-3,
• Gene location: 2p16.1 (55924162: 55865966)     Exons: 12     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This
• OMIM: 601393

Protein Summary

• Protein general information: Q12805  
  • Name: EGF containing fibulin like extracellular matrix protein 1 (Extracellular protein S1 5) (Fibrillin like protein) (Fibulin 3) (FIBL 3)
  • Length: 493  
  • Mass: 54641
  • Tissue specificity: In the eye, associated with photoreceptor outer and inner segment regions, the nerve fiber layer, outer nuclear layer and inner and outer plexiform layers of the retina. {ECO
• Sequence:

  MLKALFLTMLTLALVKSQDTEETITYTQCTDGYEWDPVRQQCKDIDECDIVPDACKGGMKCVNHYGGYLCLPKTA
  QIIVNNEQPQQETQPAEGTSGATTGVVAASSMATSGVLPGGGFVASAAAVAGPEMQTGRNNFVIRRNPADPQRIP
  SNPSHRIQCAAGYEQSEHNVCQDIDECTAGTHNCRADQVCINLRGSFACQCPPGYQKRGEQCVDIDECTIPPYCH
  QRCVNTPGSFYCQCSPGFQLAANNYTCVDINECDASNQCAQQCYNILGSFICQCNQGYELSSDRLNCEDIDECRT
  SSYLCQYQCVNEPGKFSCMCPQGYQVVRSRTCQDINECETTNECREDEMCWNYHGGFRCYPRNPCQDPYILTPEN
  RCVCPVSNAMCRELPQSIVYKYMSIRSDRSVPSDIFQIQATTIYANTINTFRIKSGNENGEFYLRQTSPVSAMLV
  LVKSLSGPREHIVDLEMLTVSSIGTFRTSSVLRLTIIVGPFSF

• Structural information:
  • Protein Domains: (26..7-)
    (/note="EGF-like-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (173..21-)
    (/note="EGF-like-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (214..25-)
    (/note="EGF-like-)
    (-)
  • Interpro: IPR026823  IPR032973  IPR001881  IPR013032  IPR000742   IPR000152  IPR018097  IPR009030  
  • Prosite: PS00010 PS01186 PS50026 PS01187
  • STRING: ENSP00000378058
• Other Databases: GeneCards:  EFEMP1  Malacards:  EFEMP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0005154	epidermal growth factor receptor binding	IDA	molecular function
GO:0032331	negative regulation of chondrocyte differentiation	IDA	biological process
GO:0007173	epidermal growth factor receptor signaling pathway	IDA	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0005006	epidermal growth factor-activated receptor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0062023	collagen-containing extracellular matrix	IEA	cellular component
GO:0005006	epidermal growth factor-activated receptor activity	IEA	molecular function
GO:0007173	epidermal growth factor receptor signaling pathway	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0008083	growth factor activity	IEA	molecular function
GO:0031012	extracellular matrix	TAS	cellular component
GO:0007601	visual perception	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	HDA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0048048	embryonic eye morphogenesis	IEP	biological process
GO:0043010	camera-type eye development	IEP	biological process
GO:0048050	post-embryonic eye morphogenesis	IEP	biological process

Diseases

Associated diseases	References
Familial flecked retina syndrome	KEGG:H00825
Doyne honeycomb retinal dystrophy	KEGG:H02110
Familial flecked retina syndrome	KEGG:H00825
Doyne honeycomb retinal dystrophy	KEGG:H02110
Doyne honeycomb retinal dystrophy	PMID:10369267
Malignant glioma	PMID:19887559
Macular degeneration	PMID:12242346
Adenoma	PMID:24080855
hepatocellular carcinoma	PMID:23936443
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R