Reactome | F9(29-461) R294Q [endoplasmic reticulum lumen]

F9(29-461) R294Q [endoplasmic reticulum lumen]

Stable Identifier

R-HSA-9672886

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

endoplasmic reticulum lumen

Synonyms

factor IX propeptide R294Q

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Locations in the PathwayBrowser

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Disease (Homo sapiens)

- Diseases of hemostasis (Homo sapiens)
  - Defects of contact activation system (CAS) and kallikrein/kinin system (KKS) (Homo sapiens)
    - Defective factor IX causes hemophilia B (Homo sapiens)
      - Defective F9 secretion (Homo sapiens)
        
        F9 variant is not secreted (Homo sapiens)
        
        Non-secretable F9 variant [endoplasmic reticulum lumen] (Homo sapiens)
        
        F9(29-461) R294Q [endoplasmic reticulum lumen] (Homo sapiens)

Literature References

PubMed ID	Title	Journal	Year
29993188	The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation Pignani, S, Todaro, A, Ferrarese, M, Marchi, S, Lombardi, S, Balestra, D, Pinton, P, Bernardi, F, Pinotti, M, Branchini, A	J. Thromb. Haemost.	2018

External Reference Information

External Reference

UniProt:P00740 F9

Gene Names

Chain

signal peptide:1-28, propeptide:29-46, chain:47-461, chain:47-191, propeptide:192-226, chain:227-461

Reference Genes

BioGPS Gene:2158 F9

COSMIC (genes):F9 F9

CTD Gene:2158 F9

dbSNP Gene:2158 F9

ENSEMBL:ENSG00000101981 F9

HGNC:3551 F9

KEGG:hsa:2158 F9

Monarch:2158 F9

NCBI Gene:2158 F9

OMIM:300746 F9

UCSC:P00740 F9

Reference Transcript

Other Identifiers

11735185_a_at

11735186_a_at

11735187_at

11745643_a_at

17107373

207218_PM_at

207218_at

2158

35556_at

3993078

3993079

3993081

3993082

3993084

3993085

3993086

3993090

3993091

3993092

3993093

3993094

3993095

8170215

A_14_P113911

A_14_P200623

A_23_P62406

A_33_P3390411

GE80895

GO:0004175

GO:0004252

GO:0005509

GO:0005515

GO:0005576

GO:0005615

GO:0005788

GO:0005796

GO:0005886

GO:0006508

GO:0007596

GO:0007599

GO:0008233

GO:0008236

GO:0016787

GO:0030312

GO:0031012

GO:0031638

GO:0046872

GO:0070062

HMNXSV003019692

ILMN_1810651

K02402_at

PH_hs_0000181

TC0X000676.hg

g10518507_3p_at

Participates

as a member of

Non-secretable F9 variant [endoplasmic reticulum lumen] (Homo sapiens)

Other forms of this molecule

F9(227-461) R384L [plasma membrane]

3OHD110-F9(29-461) N43L [endoplasmic reticulum lumen]

3OHD110-F9(29-461) N46S [endoplasmic reticulum lumen]

3OHD110-F9(29-461) N43Q [endoplasmic reticulum lumen]

3OHD110-F9(29-461) N43W [endoplasmic reticulum lumen]

12xCbxE-3D-F9(47-461) R191H [extracellular region]

F9(29-461) R43Q [extracellular region]

F9(29-461) R43W [extracellular region]

12xCbxE-3D-F9(47-461) R191C [extracellular region]

F9(29-461) R46S [extracellular region]

12xCbxE-3D-F9(47-461) R226W [extracellular region]

F9(29-461) R43L [extracellular region]

12xCbxE-3D-F9(47-461) R226Q [extracellular region]

12xCbxE-3D-F9(47-461) R226G [extracellular region]

F9(227-461) G409V [plasma membrane]

F9(227-461) I443T [plasma membrane]

F9(227-461) S411G [plasma membrane]

F9(227-461) G363E [plasma membrane]

F9(227-461) G363R [plasma membrane]

F9(227-461) D410H [plasma membrane]

F9(227-461) V359D [plasma membrane]

F9(227-461) G357E [plasma membrane]

F9(227-461) A436V [plasma membrane]

F9(227-461) S411I [plasma membrane]

F9(227-461) V419E [plasma membrane]

F9(227-461) G357R [plasma membrane]

F9(227-461) S411T [plasma membrane]

F9(29-461) R294* [endoplasmic reticulum lumen]

F9(29-461) R162R [endoplasmic reticulum lumen]

F9(29-461) Y450C [endoplasmic reticulum lumen]

F9(29-461) C28_V30delinsF [endoplasmic reticulum lumen]

F9(29-461) C155Y [endoplasmic reticulum lumen]

F9(29-461) C117Y [endoplasmic reticulum lumen]

F9(29-461) L163F [endoplasmic reticulum lumen]

F9(29-461) W453R [endoplasmic reticulum lumen]

F9(29-461) Q167H [endoplasmic reticulum lumen]

F9(29-461) R384* [endoplasmic reticulum lumen]

F9(29-461) A164V [endoplasmic reticulum lumen]

F9(29-461) V153V [endoplasmic reticulum lumen]

F9(29-461) R298* [endoplasmic reticulum lumen]

F9(29-461) Y330* [endoplasmic reticulum lumen]

F9(29-461) T458K [endoplasmic reticulum lumen]

F9(29-461) R162* [endoplasmic reticulum lumen]

F9(29-461) C28* [endoplasmic reticulum lumen]

HC-335-F9(227-461) [plasma membrane]

12xCbxE-3D-HC-C178-F9(47-191) [plasma membrane]

12xCbxE-3D-F9(47-461) [extracellular region]

12xCbxE-3D-HC-C178-F9(47-191) [extracellular region]

HC-C335-F9(227-461) [extracellular region]

factor IX activation peptide [extracellular region]

F9(29-461) [endoplasmic reticulum lumen]

3OHD110-F9(29-461) [endoplasmic reticulum lumen]

12xCbxE-3D-F9(29-461) [endoplasmic reticulum lumen]

12xCbxE-3D-F9(29-461) [Golgi lumen]

factor IX propeptide [Golgi lumen]

12xCbxE-3D-F9(47-461) [Golgi lumen]

Modified Residues

Name

L-arginine 294 replaced with L-glutamine

Coordinate

294

PsiMod

L-arginine removal [MOD:01632]

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

L-glutamine residue [MOD:00016]

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

Cross References

RefSeq

NP_001300842.1, NP_000124.1

Guide to Pharmacology - Targets

2364

ClinGen

CA255368

OpenTargets

ENSG00000101981

ENSEMBL

ENSG00000101981, ENSP00000377650, ENSP00000218099, ENST00000394090, ENST00000218099

ZINC - Substances

FA9_HUMAN

ZINC target

P00740

PRO

P00740

GlyGen

P00740

PDB

5EGM, 5TNO, 6X5L, 2WPH, 4WMI, 5TNT, 2WPJ, 8EPK, 4WMK, 8OL9, 9BVK, 3LC5, 5F84, 1CFI, 5F86, 2WPM, 5JB8, 5JBB, 3KCG, 5JBA, 4WNH, 1IXA, 4YZU, 4WN2, 2WPL, 6X5J, 4Z0K, 7AHV, 9BVR, 6X5P, 8EPC, 8EPH, 2WPI, 4ZAE, 1RFN, 4WMB, 3LC3, 4WMA, 5VYG, 1CFH, 5F85, 5JB9, 4WM0, 5JBC, 6MV4, 1MGX, 1NL0, 1EDM, 2WPK, 6RFK

ZINC - Investigational

FA9_HUMAN

GeneCards

HPA

ENSG00000101981-F9

Pharos - Targets

P00740

Orphanet

ZINC - Predictions - Purchasable

FA9_HUMAN

HMDB Protein

HMDBP01730

Interactors (15)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q3U4G3 XXLT1			0.618	3
UniProt:P00451-PRO_0000002968 F8			0.544	2
UniProt:O95071 UBR5			0.527	3
UniProt:P35453 HXD13			0.527	2
UniProt:O75197 LRP5	5	LRP5 [plasma membrane] (R-HSA-201671) p-5S,5T-LRP5 [plasma membrane] (R-HSA-1458893) p-3S,2T-LRP5 [plasma membrane] (R-HSA-1458905) LRP5 [early endosome membrane] (R-HSA-5368479) LRP5 D666_L809del [plasma membrane] (R-HSA-5339694)	0.527	2
UniProt:Q8IYL2 TRMT44	1	TRMT44 [cytosol] (R-HSA-6788685)	0.527	2
UniProt:Q9BYW2 SETD2	1	SETD2 [nucleoplasm] (R-HSA-1183220)	0.527	2
UniProt:Q9Y305 ACOT9	1	ACOT9 [mitochondrial matrix] (R-HSA-5690069)	0.527	2
UniProt:Q9NWK9 BCD1			0.527	2
UniProt:Q5NDL2 EOGT			0.527	2
UniProt:Q9BVC3 DSCC1	1	DSCC1 [nucleoplasm] (R-HSA-9668907)	0.527	2
UniProt:Q8N4L2 PP4P2			0.527	3
UniProt:Q96PK6 RBM14	1	RBM14 [nucleoplasm] (R-HSA-8938345)	0.527	2
UniProt:Q8NBL1 POGLUT1	1	POGLUT1 [endoplasmic reticulum lumen] (R-HSA-1464796)	0.527	2
UniProt:P25490 YY1	1	YY1 [nucleoplasm] (R-HSA-4086091)	0.527	2

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