Reactome | EFEMP1 [extracellular region]

EFEMP1 [extracellular region]

Stable Identifier

R-HSA-2161393

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

extracellular region

Synonyms

FBLN3, Fibulin-3, EGF-containing fibulin-like extracellular matrix protein 1

Locations in the PathwayBrowser

Expand all

External Reference Information

External Reference

UniProt:Q12805 EFEMP1

Gene Names

EFEMP1, FBLN3, FBNL

Chain

signal peptide:1-17, chain:18-493

Reference Genes

BioGPS Gene:2202 EFEMP1

COSMIC (genes):EFEMP1 EFEMP1

CTD Gene:2202 EFEMP1

dbSNP Gene:2202 EFEMP1

ENSEMBL:ENSG00000115380 EFEMP1

ENSEMBL_homo_sapiens_GENE:ENSG00000115380.20 EFEMP1

HGNC:3218 EFEMP1

KEGG Gene (Homo sapiens):2202 EFEMP1

Monarch:2202 EFEMP1

NCBI Gene:2202 EFEMP1

OMIM:601548 EFEMP1

UCSC:Q12805 EFEMP1

Reference Transcript

Other Identifiers

11715846_at

11748659_a_at

11749564_a_at

11758108_s_at

16897834

201842_PM_s_at

201842_s_at

201843_PM_s_at

201843_s_at

2202

2554033

2554034

2554035

2554036

2554037

2554040

2554041

2554042

2554045

2554046

2554047

2554056

2554057

2554058

2554059

2554063

2554065

2554067

32551_at

8052355

A_23_P501007

GE58869

GO:0003824

GO:0005006

GO:0005154

GO:0005198

GO:0005201

GO:0005509

GO:0005515

GO:0005576

GO:0005615

GO:0006351

GO:0006355

GO:0007173

GO:0007601

GO:0008083

GO:0016740

GO:0018108

GO:0023052

GO:0030154

GO:0030312

GO:0031012

GO:0032331

GO:0036211

GO:0043010

GO:0043226

GO:0048018

GO:0048048

GO:0048050

GO:0048856

GO:0050877

GO:0060089

GO:0062023

GO:0070062

GO:0098772

GO:0140096

HMNXSV003025351

Hs.76224.0.A1_3p_a_at

ILMN_1673880

ILMN_1735877

ILMN_2350634

PH_hs_0004398

TC02001867.hg

U03877_at

g9665261_3p_a_at

Participates

as a member of

Fibulins [extracellular region] (Homo sapiens)

Inferred To

mua-3 [extracellular region] (Caenorhabditis elegans)

fbl-1 [extracellular region] (Caenorhabditis elegans)

mec-9 [extracellular region] (Caenorhabditis elegans)

fbn-1 [extracellular region] (Caenorhabditis elegans)

EFEMP2 [extracellular region] (Sus scrofa)

EFEMP1 [extracellular region] (Caenorhabditis elegans)

EFEMP1 [extracellular region] (Dictyostelium discoideum)

EFEMP1 [extracellular region] (Gallus gallus)

Homologues of EFEMP1 [extracellular region] (Caenorhabditis elegans)

Homologues of EFEMP1 [extracellular region] (Dictyostelium discoideum)

mup-4 [extracellular region] (Caenorhabditis elegans)

Cross References

RefSeq

NP_001034438.1, NP_001034437.1

OpenTargets

ENSG00000115380

GeneCards

Q12805

HPA

ENSG00000115380-EFEMP1

Ensembl

ENST00000394555, ENSP00000347596, ENSP00000378058, ENSG00000115380, ENST00000355426

PRO

Q12805

Pharos - Targets

Q12805

Orphanet

15913

Interactors (8)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q12933 TRAF2	5	TRAF2 [nucleoplasm] (R-HSA-8862199) K63polyUb-TRAF2 [nucleoplasm] (R-HSA-8862194) K63polyUb-TRAF2 [cytosol] (R-HSA-8862193) PolyUb-TRAF2 [cytosol] (R-HSA-6782848) TRAF2 [cytosol] (R-HSA-66370)	0.863	12
UniProt:P49639 HOXA1	1	HOXA1 [nucleoplasm] (R-HSA-5617464)	0.666	4
UniProt:P24592 IGFBP6	1	IGFBP6 [extracellular region] (R-HSA-381475)	0.556	3
UniProt:Q9H2F3 HSD3B7	1	HSD3B7 [endoplasmic reticulum membrane] (R-HSA-193441)	0.556	3
UniProt:O95429 BAG4	3	BAG4 [cytosol] (R-HSA-5212670) BAG4(1-126)-p-8Y-FGFR1(208-822) fusion [plasma membrane] (R-HSA-8853156) BAG4(1-126)-FGFR1(208-822) fusion [plasma membrane] (R-HSA-8853157)	0.556	3
UniProt:Q92570 NR4A3	1	NR4A3 [nucleoplasm] (R-HSA-8938004)	0.556	3
UniProt:P42858 HTT	1	HTT [nucleoplasm] (R-HSA-9023590)	0.556	3
UniProt:Q07666 KHDRBS1	3	p-Y435,Y440,Y443-KHDRBS1 [nucleoplasm] (R-HSA-8848970) p-Y435,Y440,Y443-KHDRBS1 [cytosol] (R-HSA-8848995) KHDRBS1 [nucleoplasm] (R-HSA-8848941)	0.553	2