Reactome | F12 T328R [plasma membrane]

F12 T328R [plasma membrane]

Stable Identifier

R-HSA-9653226

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

Hageman factor T328R, factor XII T328R

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Literature References

PubMed ID	Title	Journal	Year
30591525	A mechanism for hereditary angioedema with normal C1 inhibitor: an inhibitory regulatory role for the factor XII heavy chain Ivanov, I, Matafonov, A, Sun, MF, Mohammed, BM, Cheng, Q, Dickeson, SK, Kundu, S, Verhamme, IM, Gruber, A, McCrae, K, Gailani, D	Blood	2019
27130860	Plasmin is a natural trigger for bradykinin production in patients with hereditary angioedema with factor XII mutations de Maat, S, Björkqvist, J, Suffritti, C, Wiesenekker, CP, Nagtegaal, W, Koekman, A, van Dooremalen, S, Pasterkamp, G, de Groot, PG, Cicardi, M, Renné, T, Maas, C	J. Allergy Clin. Immunol.	2016

External Reference Information

External Reference

UniProt:P00748 F12

Gene Names

F12

Chain

signal peptide:1-19, chain:20-372, chain:354-362, chain:373-615

Reference Genes

BioGPS Gene:2161 F12

COSMIC (genes):F12 F12

CTD Gene:2161 F12

dbSNP Gene:2161 F12

ENSEMBL:ENSG00000131187 F12

HGNC:3530 F12

KEGG:hsa:2161 F12

Monarch:2161 F12

NCBI Entrez Gene:2161 F12

OMIM:610619 F12

UCSC:P00748 F12

Reference Transcript

RefSeq:NM_000505.4 F12

Other Identifiers

11733764_at

11756323_x_at

17003224

17003228

205774_PM_at

205774_at

215961_PM_at

215961_at

2161

2888736

2888738

2888740

2888742

2888743

2888744

2888745

2888746

2888747

2888748

2888749

2888750

2888751

2888752

2888753

2888754

2888755

2888756

2888757

2888758

2888759

2888760

2888761

2888762

2888763

2888764

2888765

2888766

2888767

2888768

2888769

2888770

2888771

2888772

37838_at

8116031

8116033

A_23_P167674

A_24_P49997

A_33_P3233871

GE57922

GO:0002353

GO:0002376

GO:0002542

GO:0004252

GO:0005509

GO:0005515

GO:0005576

GO:0005615

GO:0005783

GO:0005791

GO:0005886

GO:0006508

GO:0007596

GO:0007597

GO:0007599

GO:0008233

GO:0008236

GO:0010756

GO:0016485

GO:0016540

GO:0016787

GO:0030194

GO:0030312

GO:0031012

GO:0031638

GO:0042730

GO:0045087

GO:0051604

GO:0051787

GO:0051788

GO:0051919

GO:0070062

GO:0098542

HMNXSV003050126

HMNXSV003051677

Hs.1321.1.S1_3p_at

ILMN_1671766

ILMN_1718018

M17466_at

PH_hs_0000179

PH_hs_0031702

TC05002104.hg

TC05002105.hg

g9961354_3p_at

Participates

as a member of

F12 variant [plasma membrane] (Homo sapiens)

Other forms of this molecule

factor XIIa light chain [extracellular region]

factor XIIa heavy chain [extracellular region]

factor XII [plasma membrane]

F12 T328K [plasma membrane]

F12 T328R(20-328) [extracellular region]

F12 T328K(20-328) [extracellular region]

F12 T328K (329-615) [extracellular region]

F12 T328R (329-615) [extracellular region]

F12 T328R (373-615) [extracellular region]

F12 T328K (373-615) [extracellular region]

Modified Residues

Name

L-threonine 328 replaced with L-arginine

Coordinate

328

PsiMod

L-threonine removal [MOD:01647]

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

L-arginine residue [MOD:00011]

A protein modification that effectively converts a source amino acid residue to an L-arginine.

Disease

Name	Identifier	Synonyms
hereditary angioedema	DOID:14735	HANE, Hereditary angioedema, Hereditary angioneurotic edema

Cross References

RefSeq

NP_000496.2

Guide to Pharmacology - Targets

2361

ClinGen

CA114819

OpenTargets

ENSG00000131187

ENSEMBL

ENSP00000253496, ENSG00000131187, ENST00000253496

Mondo

0019623

ZINC - Substances

FA12_HUMAN

ZINC target

P00748

PRO

P00748

GlyGen

P00748

PDB

4BDW, 6SZW, 7FBP, 6L63, 6GT6, 8OS5, 6QF7, 6B77, 7PRK, 6X0T, 4XE4, 7PRJ, 6X0S, 4BDX, 8R8D, 4XDE, 6B74

ZINC - Investigational

FA12_HUMAN

HPA

ENSG00000131187-F12

GeneCards

F12

Pharos - Targets

P00748

Orphanet

F12

ZINC - Predictions - Purchasable

FA12_HUMAN

HMDB Protein

HMDBP02054

Interactors (4)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P13473-2 P134732			0.556	3
UniProt:P05067 APP	20	APP(672-713) [extracellular region] (R-HSA-879340) APP(672-711) [cytosol] (R-HSA-877188) APP(672-711) [extracellular region] (R-HSA-976740) APP [endoplasmic reticulum lumen] (R-HSA-8956696) p-APP [endoplasmic reticulum lumen] (R-HSA-8957012) APP(18-770) [platelet alpha granule lumen] (R-HSA-139835) APP(18-770) [extracellular region] (R-HSA-49335) APP(18-770) [endosome lumen] (R-HSA-5229077) APP(672-711) [endosome lumen] (R-HSA-6783333) APP(672-713) [endosome lumen] (R-HSA-5692993) APP(672-770) [endosome lumen] (R-HSA-9010082) APP(712-770) [endosome lumen] (R-HSA-6783331) APP(714-770) [endosome lumen] (R-HSA-6783325) APP(18-671) [endosome lumen] (R-HSA-5693003) APP(18-770) [plasma membrane] (R-HSA-9010038) APP(18-770) [Golgi lumen] (R-HSA-8871509) APP(688-770) [plasma membrane] (R-HSA-9010028) APP(18-687) [extracellular region] (R-HSA-9010033) APP-C99 [cytosol] (R-HSA-9617603) APP(18-770) [trans-Golgi network membrane] (R-HSA-5229136)	0.556	3
UniProt:Q6AI12 ANR40			0.527	3
UniProt:P11142 HSPA8	10	HSPA8 [cytosol] (R-HSA-264476) HSPA8 [lysosomal lumen] (R-HSA-9625182) HSPA8 [late endosome lumen] (R-HSA-9631104) HSPA8 [clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane] (R-HSA-888599) HSPA8 [plasma membrane] (R-HSA-936508) HSPA8 [nucleoplasm] (R-HSA-5082380) HSPA8 [secretory granule lumen] (R-HSA-6801530) HSPA8 [extracellular region] (R-HSA-6805936) HSPA8 [ficolin-1-rich granule lumen] (R-HSA-6801494) Me3K561-HSPA8 [nucleoplasm] (R-HSA-8932217)	0.527	3