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F9 coagulation factor IX [ Homo sapiens (human) ]

Gene ID: 2158, updated on 16-Apr-2014
Official Symbol
F9provided by HGNC
Official Full Name
coagulation factor IXprovided by HGNC
Primary source
HGNC:3551
Locus tag
RP6-88D7.1
See related
Ensembl:ENSG00000101981; HPRD:02385; MIM:300746; Vega:OTTHUMG00000022536
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FIX; P19; PTC; HEMB; THPH8
Summary
This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. [provided by RefSeq, Jul 2008]
Location :
Xq27.1-q27.2
Sequence :
Chromosome: X; NC_000023.11 (139530733..139565697)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene SNRPN upstream reading frame-like, pseudogene Neighboring gene steroid-5-alpha-reductase, alpha polypeptide 1 pseudogene 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha pseudogene) Neighboring gene MCF.2 cell line derived transforming sequence Neighboring gene brain cytoplasmic RNA 1, pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Hereditary factor IX deficiency disease
MedGen: C0008533 OMIM: 306900 GeneReviews: Hemophilia B
Compare labs
Thrombophilia, X-linked, due to factor IX defect
MedGen: C2749016 OMIM: 300807 GeneReviews: Not available
Compare labs
Warfarin response
MedGen: CN078029 OMIM: 122700 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-04-26)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-26)

ISCA Genome Curation Page
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
blood coagulation, extrinsic pathway TAS
Traceable Author Statement
more info
 
blood coagulation, intrinsic pathway TAS
Traceable Author Statement
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
peptidyl-glutamic acid carboxylation TAS
Traceable Author Statement
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
proteolysis TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi lumen TAS
Traceable Author Statement
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
coagulation factor IX
Names
coagulation factor IX
F9 p22
FIX F9
factor 9
factor IX F9
Christmas factor
plasma thromboplastic component
plasma thromboplastin component
NP_000124.1

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.

Genomic

  1. NG_007994.1 RefSeqGene

    Range
    5001..37723
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000133.3NP_000124.1  coagulation factor IX preproprotein

    See proteins identical to NP_000124.1

    Status: REVIEWED

    Source sequence(s)
    AL033403, BC109214, M11309
    Consensus CDS
    CCDS14666.1
    UniProtKB/Swiss-Prot
    P00740
    Related
    ENSP00000218099, OTTHUMP00000024154, ENST00000218099, OTTHUMT00000058557
    Conserved Domains (5) summary
    smart00020
    Location:226454
    Blast Score: 727
    Tryp_SPc; Trypsin-like serine protease
    smart00069
    Location:2892
    Blast Score: 274
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    cd00054
    Location:93129
    Blast Score: 131
    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:227457
    Blast Score: 756
    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:134170
    Blast Score: 125
    FXa_inhibition; Coagulation Factor Xa inhibitory site

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11

    Range
    139530733..139565697
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262397.2XP_005262454.1  

    Conserved Domains (4) summary
    smart00020
    Location:183411
    Blast Score: 730
    Tryp_SPc; Trypsin-like serine protease
    smart00069
    Location:2892
    Blast Score: 277
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    cd00054
    Location:93129
    Blast Score: 136
    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:184414
    Blast Score: 760
    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 ...
  2. XM_006724742.1XP_006724805.1  

    Conserved Domains (5) summary
    smart00020
    Location:226342
    Blast Score: 379
    Tryp_SPc; Trypsin-like serine protease
    smart00069
    Location:2892
    Blast Score: 271
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues
    cd00054
    Location:93129
    Blast Score: 130
    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:227354
    Blast Score: 381
    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:134170
    Blast Score: 124
    FXa_inhibition; Coagulation Factor Xa inhibitory site

Alternate HuRef

Genomic

  1. AC_000155.1 Alternate HuRef

    Range
    127880671..127913025
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    138523783..138556510
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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