Reactome | EMILIN1 [extracellular region]

EMILIN1 [extracellular region]

Stable Identifier

R-HSA-2161355

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

extracellular region

Synonyms

EMILIN-1, EMIL1_HUMAN

Locations in the PathwayBrowser

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Extracellular matrix organization (Homo sapiens)

- Elastic fibre formation (Homo sapiens)
  - Molecules associated with elastic fibres (Homo sapiens)
    - Elastic fibres bind associated proteins (Homo sapiens)
      - Elastic fibre with associated proteins [extracellular region] (Homo sapiens)
        
        Elastic fibre:Fibulins:Emilins [extracellular region] (Homo sapiens)
        
        Emilins [extracellular region] (Homo sapiens)
        
        Emilin-1 polymer [extracellular region] (Homo sapiens)
        
        Emilin-1 trimer [extracellular region] (Homo sapiens)
        
        EMILIN1 [extracellular region] (Homo sapiens)
      - Elastic fibre:Fibulins:Emilins [extracellular region] (Homo sapiens)
        
        Emilins [extracellular region] (Homo sapiens)
        
        Emilin-1 polymer [extracellular region] (Homo sapiens)
        
        Emilin-1 trimer [extracellular region] (Homo sapiens)
        
        EMILIN1 [extracellular region] (Homo sapiens)
    - Emilin is found in elastic fibres (Homo sapiens)
      - Elastic fibre:Fibulins:Emilins [extracellular region] (Homo sapiens)
        
        Emilins [extracellular region] (Homo sapiens)
        
        Emilin-1 polymer [extracellular region] (Homo sapiens)
        
        Emilin-1 trimer [extracellular region] (Homo sapiens)
        
        EMILIN1 [extracellular region] (Homo sapiens)
      - Emilins [extracellular region] (Homo sapiens)
        
        Emilin-1 polymer [extracellular region] (Homo sapiens)
        
        Emilin-1 trimer [extracellular region] (Homo sapiens)
        
        EMILIN1 [extracellular region] (Homo sapiens)

External Reference Information

External Reference

UniProt:Q9Y6C2 EMILIN1

Gene Names

EMILIN1, EMI

Chain

signal peptide:1-21, chain:22-1016

Reference Genes

BioGPS Gene:11117 EMILIN1

COSMIC (genes):EMILIN1 EMILIN1

CTD Gene:11117 EMILIN1

dbSNP Gene:11117 EMILIN1

ENSEMBL:ENSG00000138080 EMILIN1

ENSEMBL_homo_sapiens_GENE:ENSG00000138080.14 EMILIN1

HGNC:19880 EMILIN1

KEGG Gene (Homo sapiens):11117 EMILIN1

Monarch:11117 EMILIN1

NCBI Gene:11117 EMILIN1

OMIM:130660 EMILIN1

UCSC:Q9Y6C2 EMILIN1

Reference Transcript

RefSeq:NM_007046.3 EMILIN1

Other Identifiers

11117

11729869_a_at

11729870_x_at

16878069

204163_3p_at

204163_PM_at

204163_at

2474224

2474225

2474226

2474227

2474228

2474229

2474230

2474231

2474232

2474233

2474235

2474236

2474237

2474238

2474239

35740_at

64316_r_at

8040792

A_14_P119667

A_23_P165848

A_33_P3333455

GE56253

GO:0002376

GO:0003013

GO:0003180

GO:0005198

GO:0005201

GO:0005515

GO:0005576

GO:0005581

GO:0005615

GO:0005886

GO:0007155

GO:0007160

GO:0008217

GO:0010628

GO:0010629

GO:0010811

GO:0012501

GO:0016477

GO:0016525

GO:0023052

GO:0030023

GO:0030194

GO:0030198

GO:0030312

GO:0030336

GO:0030512

GO:0030948

GO:0031012

GO:0032966

GO:0033627

GO:0034668

GO:0042060

GO:0042127

GO:0042802

GO:0043065

GO:0043226

GO:0045766

GO:0048251

GO:0048583

GO:0048856

GO:0048870

GO:0050866

GO:0060090

GO:0060392

GO:0062023

GO:0070062

GO:0070373

GO:0098542

GO:0098631

GO:0098640

GO:1900426

GO:1900747

GO:1901203

GO:1901731

GO:1904027

GO:1905522

GO:1990971

HMNXSV003033355

ILMN_1711439

PH_hs_0003977

TC02000163.hg

g5901943_3p_at

g5901943_3p_s_at

Participates

as a component of

Emilin-1 trimer [extracellular region] (Homo sapiens)

Inferred To

Emilin1 [extracellular region] (Mus musculus)

Emilin1 [extracellular region] (Rattus norvegicus)

EMILIN1 [extracellular region] (Bos taurus)

EMILIN1 [extracellular region] (Canis familiaris)

EMILIN1 [extracellular region] (Sus scrofa)

Cross References

RefSeq

NP_008977.1

OpenTargets

ENSG00000138080

HPA

ENSG00000138080-EMILIN1

GeneCards

Q9Y6C2

Ensembl

ENSP00000369677, ENST00000380320, ENSG00000138080

PRO

Q9Y6C2

Pharos - Targets

Q9Y6C2

Orphanet

24508

PDB

2KA3, 2OII

Interactors (11)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q96QG7 MTMR9	1	MTMR9 [cytosol] (R-HSA-6809239)	0.884	10
UniProt:Q13287 NMI	1	NMI [cytosol] (R-HSA-9731022)	0.666	4
UniProt:Q8IY31 IFT20	3	IFT20 [cilium] (R-HSA-5617624) IFT20 [Golgi membrane] (R-HSA-5617625) IFT20 [ciliary tip] (R-HSA-5625355)	0.601	6
UniProt:Q6ISS4 LAIR2	1	LAIR2 [extracellular region] (R-HSA-5696342)	0.556	3
UniProt:Q96PC5 MIA2	1	MIA2 [endoplasmic reticulum membrane] (R-HSA-9637821)	0.556	3
UniProt:Q00994 BEX3	1	NGFRAP1 [cytosol] (R-HSA-194333)	0.556	3
UniProt:Q15750 TAB1	6	TAB1(445-504) [cytosol] (R-HSA-9729691) TAB1(133-504) [cytosol] (R-HSA-9729724) TAB1(1-132) [cytosol] (R-HSA-9729698) TAB1(1-444) [cytosol] (R-HSA-9729751) TAB1 [endosome membrane] (R-HSA-450238) TAB1 [cytosol] (R-HSA-167923)	0.527	3
UniProt:Q8NFZ5 TNIP2	1	TNIP2 [cytosol] (R-HSA-451661)	0.527	3
UniProt:Q8NBN7 RDH13	1	RDH13 [mitochondrial inner membrane] (R-HSA-2980995)	0.527	3
UniProt:Q96HC4 PDLIM5	1	PDLIM5 [cytosol] (R-HSA-6794246)	0.527	2
UniProt:Q9Y4K3 TRAF6	8	K48polyUb-TRAF6 [cytosol] (R-HSA-6783233) PolyUb-TRAF6 [cytosol] (R-HSA-6782845) TRAF6 [endosome membrane] (R-HSA-450272) K63polyUb-TRAF6 [endosome membrane] (R-HSA-450227) TRAF6 [cytosol] (R-HSA-166366) K63polyUb-TRAF6 [cytosol] (R-HSA-2685681) K63polyUb-TRAF6 [plasma membrane] (R-HSA-936980) TRAF6 [plasma membrane] (R-HSA-936955)	0.527	2