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    F9 coagulation factor IX [ Homo sapiens (human) ]

    Gene ID: 2158, updated on 3-Jul-2016
    Official Symbol
    F9provided by HGNC
    Official Full Name
    coagulation factor IXprovided by HGNC
    Primary source
    HGNC:HGNC:3551
    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; F9 p22
    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. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Sep 2015]
    Orthologs
    Location:
    Xq27.1-q27.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (139530720..139563459)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (138612889..138645617)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene SNRPN upstream reading frame-like (pseudogene) Neighboring gene steroid 5 alpha-reductase 1 pseudogene 1 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)

    ClinGen Genome Curation Page
    Haploinsufficency

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

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

    Markers

    Homology

    Clone Names

    • MGC129641, MGC129642

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    ER to Golgi vesicle-mediated transport TAS
    Traceable Author Statement
    more info
     
    blood coagulation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    blood coagulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    blood coagulation, extrinsic pathway TAS
    Traceable Author Statement
    more info
     
    blood coagulation, intrinsic pathway TAS
    Traceable Author Statement
    more info
     
    peptidyl-glutamic acid carboxylation TAS
    Traceable Author Statement
    more info
     
    proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    signal peptide processing TAS
    Traceable Author Statement
    more info
     
    zymogen activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi lumen TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    coagulation factor IX
    Names
    Christmas factor
    factor 9
    factor IX F9
    plasma thromboplastic component
    plasma thromboplastin component
    NP_000124.1
    NP_001300842.1

    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), LRG_556

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_000124.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      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
      Tryp_SPc; Trypsin-like serine protease
      smart00069
      Location:2892
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues
      cd00054
      Location:93129
      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
      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
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    2. NM_001313913.1NP_001300842.1  coagulation factor IX isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 1.
      Source sequence(s)
      AB186358, AL033403, BC109214, M11309
      UniProtKB/Swiss-Prot
      P00740
      Related
      ENSP00000377650, ENST00000394090
      Conserved Domains (4) summary
      smart00020
      Location:188416
      Tryp_SPc; Trypsin-like serine protease
      smart00069
      Location:2892
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues
      cd00190
      Location:189419
      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:96132
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      139530720..139563459
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262397.4XP_005262454.1  

      Conserved Domains (4) summary
      smart00020
      Location:183411
      Tryp_SPc; Trypsin-like serine protease
      smart00069
      Location:2892
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues
      cd00054
      Location:93129
      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
      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 ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

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