Reactome | Variant fibrinogen alpha chain [extracellular region]

Variant fibrinogen alpha chain [extracellular region]

Stable Identifier

R-HSA-976905

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

extracellular region

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Literature References

PubMed ID	Title	Journal	Year
8097946	Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain Wheeler, G, Liepnieks, J, Correa, R, Benson, MD, Uemichi, T	Nat Genet	1993

External Reference Information

External Reference

UniProt:P02671 FGA

Gene Names

FGA

Chain

signal peptide:1-19, peptide:20-35, chain:36-866

Reference Genes

BioGPS Gene:2243 FGA

COSMIC (genes):FGA FGA

CTD Gene:2243 FGA

dbSNP Gene:2243 FGA

ENSEMBL:ENSG00000171560.17 FGA

HGNC:3661 FGA

KEGG Gene (Homo sapiens):2243 FGA

Monarch:2243 FGA

NCBI Gene:2243 FGA

OMIM:134820 FGA

UCSC:P02671 FGA

Reference Transcript

Other Identifiers

0002360161

0002360717

0003850594

11731398_a_at

11731399_s_at

11749963_a_at

11757349_a_at

11757350_x_at

16980836

205649_PM_s_at

205649_s_at

205650_PM_s_at

205650_s_at

2243

2790625

2790627

2790628

2790629

2790630

2790631

2790632

2790633

2790634

2790635

2790636

2790637

2790638

2790639

2790640

2790641

2790642

2790643

2790644

2790645

2790646

2790647

2790648

2790649

38825_at

8103311

A_23_P375372

A_23_P44274

A_24_P282251

A_32_P42842

GE58040

GE79857

GO:0002250

GO:0002376

GO:0003013

GO:0003674

GO:0005102

GO:0005198

GO:0005201

GO:0005515

GO:0005575

GO:0005576

GO:0005577

GO:0005615

GO:0005622

GO:0005737

GO:0005783

GO:0005788

GO:0005886

GO:0007155

GO:0007160

GO:0007596

GO:0007599

GO:0008150

GO:0009897

GO:0009986

GO:0012501

GO:0016192

GO:0023052

GO:0030154

GO:0030168

GO:0030312

GO:0031012

GO:0031091

GO:0031093

GO:0031410

GO:0031639

GO:0032991

GO:0034116

GO:0042060

GO:0042730

GO:0043152

GO:0043167

GO:0043226

GO:0045087

GO:0045907

GO:0045921

GO:0046872

GO:0048856

GO:0050714

GO:0050839

GO:0051258

GO:0051592

GO:0051604

GO:0062023

GO:0065003

GO:0070062

GO:0070374

GO:0070527

GO:0072377

GO:0072378

GO:0072562

GO:0090277

GO:0098542

GO:0110165

GO:1900026

GO:1902042

GO:1903561

GO:2000352

HMNXSV003019079

ILMN_1656487

ILMN_1659947

ILMN_1779017

ILMN_2280203

ILMN_2381945

M58569_s_at

PH_hs_0028209

TC04001662.hg

TC04002793.hg

g11761627_3p_s_at

g11761628_3p_s_at

Participates

as a member of

Systemic amyloid fibril monomers [extracellular region] (Homo sapiens)

as a repeated unit of

Variant fibrinogen alpha chain fibril [extracellular region] (Homo sapiens)

Other forms of this molecule

FGA(20-866) [platelet alpha granule lumen]

FGA(20-866) [extracellular region]

p-FGA [endoplasmic reticulum lumen]

FGA [endoplasmic reticulum lumen]

FGA [plasma membrane]

FGA(20-35) [extracellular region]

FGA [extracellular region]

Modified Residues

Name

L-glutamine 573 replaced with unknown

Coordinate

573

PsiMod

L-glutamine removal [MOD:01637]

A protein modification that effectively removes or replaces an L-glutamine.

Cross References

RefSeq

NP_000499.1, NP_068657.1

OpenTargets

ENSG00000171560

HPA

ENSG00000171560-FGA

GeneCards

P02671

Ensembl

ENSP00000385981, ENST00000403106, ENSG00000171560, ENSP00000498441, ENST00000651975

PRO

P02671

Pharos - Targets

P02671

Orphanet

16040

HMDB Protein

HMDBP13512

PDB

5CFA, 1FZD, 1N86, 2OYI, 2FFD, 3AT0, 1BBR, 1DM4, 1RF0, 2A45, 2OYH, 1FZC, 1FPH, 1FZB, 1LTJ, 1FZA, 2HOD, 3H32, 3E1I, 3HUS, 2Q9I, 2Z4E, 1RE3, 1RE4, 4F27, 1LT9, 3BVH, 2XNY, 3GHG, 1FZG, 1N8E, 2HLO, 1YCP, 2HPC, 2XNX, 1FZF, 2H43, 1FZE, 1RF1

Interactors (5)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P02675 FGB	5	FGB(31-491) [platelet alpha granule lumen] (R-HSA-140921) FGB(31-491) [extracellular region] (R-HSA-140846) FGB [plasma membrane] (R-HSA-140917) FGB(31-44) [extracellular region] (R-HSA-140876) FGB [extracellular region] (R-HSA-140584)	0.852	11
UniProt:P02679 FGG	5	FGG [platelet alpha granule lumen] (R-HSA-140922) p-FGG [endoplasmic reticulum lumen] (R-HSA-8956993) FGG [endoplasmic reticulum lumen] (R-HSA-8956692) FGG [plasma membrane] (R-HSA-140918) FGG [extracellular region] (R-HSA-140585)	0.852	11
UniProt:Q8IXL6 FAM20C	1	FAM20C [endoplasmic reticulum lumen] (R-HSA-8952276)	0.623	2
UniProt:Q99XV0 Q99XV0			0.524	2
UniProt:P02647 APOA1	11	Variant apolipoprotein AI [extracellular region] (R-HSA-976865) APOA1(25-266) [secretory granule lumen] (R-HSA-350761) APOA1(25-267) [endoplasmic reticulum lumen] (R-HSA-174640) APOA1(19-266) [extracellular region] (R-HSA-264771) APOA1(25-266) [plasma membrane] (R-HSA-216742) APOA1(25-267) [cytosol] (R-HSA-2395781) APOA1(25-267) [early endosome] (R-HSA-2429641) APOA1(25-266) [endocytic vesicle lumen] (R-HSA-2239460) p-APOA1 [endoplasmic reticulum lumen] (R-HSA-8957081) APOA1 [endoplasmic reticulum lumen] (R-HSA-8956724) APOA1(25-266) [extracellular region] (R-HSA-174720)	0.483	2