F9 coagulation factor IX [Canis lupus familiaris (dog)] - Gene

Summary

Official Symbol: F9provided by VGNC
Official Full Name: coagulation factor IXprovided by VGNC
Primary source: VGNC:VGNC:40554
See related: Ensembl:ENSCAFG00845029706
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Canis lupus familiaris (sub-species: familiaris)
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Canidae; Canis
Orthologs: human mouse all
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Genomic context

Location:: chromosome: X

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
106	current	ROS_Cfam_1.0 (GCF_014441545.1)	X	NC_051843.1 (111487863..111520319)
106	current	Dog10K_Boxer_Tasha (GCF_000002285.5)	X	NC_006621.4 (95328677..95361130)
106	current	UU_Cfam_GSD_1.0 (GCF_011100685.1)	X	NC_049260.1 (110485875..110518335)
106	current	UMICH_Zoey_3.1 (GCF_005444595.1)	X	NC_049299.1 (108621887..108654350)
106	current	UNSW_CanFamBas_1.0 (GCF_013276365.1)	X	NC_049780.1 (110806410..110838864)

Chromosome X - NC_051843.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Single Base Insertion in F9 Causing Hemophilia B in a Family of Newfoundland-Parti Standard Poodle Hybrid Dogs.
Title: A Single Base Insertion in F9 Causing Hemophilia B in a Family of Newfoundland-Parti Standard Poodle Hybrid Dogs.
Report relative sensitivity of whole blood clotting time and activated partial thromboplastin time for the detection of factor IX.
Title: Sensitivity of whole blood clotting time and activated partial thromboplastin time for factor IX: relevance to gene therapy and determination of post-transfusion elimination time of canine factor IX in hemophilia B dogs.
Data indicate that the hyperactivating factor IX (FIX)-R338L mutation resulted in a robust 15-fold gain in potency and therefore provides a promising strategy to improve the efficacy, feasibility, and safety of hemophilia gene therapy.
Title: Hyperfunctional coagulation factor IX improves the efficacy of gene therapy in hemophilic mice.
Data indicate that factor IX (FIX)-R338L provides an attractive strategy to safely enhance the efficacy of gene therapy for hemophilia B (HB).
Title: The efficacy and the risk of immunogenicity of FIX Padua (R338L) in hemophilia B dogs treated by AAV muscle gene therapy.
Describe proliferation of FIX-producing dog hepatocytes in mouse liver.
Title: Successful in vivo propagation of factor IX-producing hepatocytes in mice: potential for cell-based therapy in haemophilia B.

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General gene information

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Markers

F9 (e-PCR), detects polymorphism
- UniSTS:263467

F9 (e-PCR), detects polymorphism
- UniSTS:266922

Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info	PubMed
enables serine-type endopeptidase activity	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in blood coagulation	IEA Inferred from Electronic Annotation more info	PubMed
involved_in zymogen activation	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info	PubMed
located_in extracellular space	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: coagulation factor IX

Names: christmas factor; coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B); factor IX activated protein

NP_001003323.1

EC 3.4.21.22

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001003323.2 → NP_001003323.1 coagulation factor IX preproprotein

See identical proteins and their annotated locations for NP_001003323.1

Status: VALIDATED

Source sequence(s)

GR893754, GR894491, M21757, M33826

UniProtKB/Swiss-Prot

P19540

UniProtKB/TrEMBL

A0A8C0S5T6, A0A8I3SCE7

Related

ENSCAFP00845041293.1, ENSCAFT00845052614.1

Conserved Domains (4) summary

smart00069
Location:21 → 85

GLA; Domain containing Gla (gamma-carboxyglutamate) residues

cd00054
Location:86 → 122

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd00190
Location:218 → 448

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

pfam14670
Location:127 → 163

FXa_inhibition; Coagulation Factor Xa inhibitory site