Reactome | F9(227-461) A436V [plasma membrane]

F9(227-461) A436V [plasma membrane]

Stable Identifier

R-HSA-9670807

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

factor IXa heavy chain A436V

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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 variant does not activate FX (Homo sapiens)
        
        FIXa variant:FVIIIa does not convert FX to the active FXa (Homo sapiens)
        
        factor VIIIa:factor IXa variant [plasma membrane] (Homo sapiens)
        
        FIXa variant [plasma membrane] (Homo sapiens)
        
        F9(227-461) variant [plasma membrane] (Homo sapiens)
        
        F9(227-461) A436V [plasma membrane] (Homo sapiens)

Literature References

PubMed ID	Title	Journal	Year
3392024	Molecular defect in factor IXBm Lake Elsinore. Substitution of Ala390 by Val in the catalytic domain Pendurthi, UR, Spitzer, SG, Bajaj, SP, Kasper, CK	J. Biol. Chem.	1988
3965513	Characterization of three abnormal factor IX variants (Bm Lake Elsinore, Long Beach, and Los Angeles) of hemophilia-B. Evidence for defects affecting the latent catalytic site Warn-Cramer, BJ, Usharani, P, Bajaj, SP, Kasper, CK	J. Clin. Invest.	1985

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:0003824

GO:0004175

GO:0004252

GO:0005509

GO:0005515

GO:0005576

GO:0005615

GO:0005788

GO:0005796

GO:0005886

GO:0006508

GO:0007596

GO:0008233

GO:0008236

GO:0016787

GO:0030312

GO:0031012

GO:0031638

GO:0043226

GO:0046872

GO:0051604

GO:0062023

GO:0070062

GO:0140096

HMNXSV003019692

ILMN_1810651

K02402_at

PH_hs_0000181

TC0X000676.hg

g10518507_3p_at

Participates

as a member of

F9(227-461) variant [plasma membrane] (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) 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) R294Q [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-alanine 436 replaced with L-valine

Coordinate

436

PsiMod

L-valine residue [MOD:00029]

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

L-alanine removal [MOD:01631]

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

Disease

Name	Identifier	Synonyms
hemophilia B	DOID:12259	factor IX deficiency, Congenital factor IX deficiency, deficiency, functional factor IX, Congenital factor IX disorder

Cross References

Guide to Pharmacology - Targets

2364

ClinGen

CA255416

OpenTargets

ENSG00000101981

ENSEMBL

ENSP00000377650, ENSP00000218099, ENST00000394090, ENST00000218099, ENSG00000101981

ZINC - Substances

FA9_HUMAN

ZINC target

P00740

PRO

P00740

GlyGen

P00740

PDB

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

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:Q96PK6 RBM14	1	RBM14 [nucleoplasm] (R-HSA-8938345)	0.527	2
UniProt:Q9BVC3 DSCC1	1	DSCC1 [nucleoplasm] (R-HSA-9668907)	0.527	2
UniProt:Q8N4L2 PP4P2			0.527	3
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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