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    F7 coagulation factor VII [ Homo sapiens (human) ]

    Gene ID: 2155, updated on 8-Jun-2016
    Official Symbol
    F7provided by HGNC
    Official Full Name
    coagulation factor VIIprovided by HGNC
    Primary source
    HGNC:HGNC:3544
    See related
    Ensembl:ENSG00000057593 HPRD:01965; MIM:613878; Vega:OTTHUMG00000017373
    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
    SPCA
    Summary
    This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene can cause coagulopathy. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015]
    Orthologs
    Location:
    13q34
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 13 NC_000013.11 (113105773..113120681)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (113760102..113774995)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene MCF.2 cell line derived transforming sequence like Neighboring gene uncharacterized LOC107984591 Neighboring gene proline-rich extensin-like protein EPR1 Neighboring gene F10 antisense RNA 1 Neighboring gene lysyl-tRNA synthetase pseudogene 2 Neighboring gene coagulation factor X

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Factor VII deficiency
    MedGen: C0015503 OMIM: 227500 GeneReviews: Not available
    Compare labs
    Myocardial infarction 1
    MedGen: C1838021 OMIM: 608446 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
    NHGRI GWA Catalog
    Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.
    NHGRI GWA Catalog
    Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
    NHGRI GWA Catalog
    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
     
    glycoprotein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    serine-type peptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    ER to Golgi vesicle-mediated transport TAS
    Traceable Author Statement
    more info
     
    blood coagulation TAS
    Traceable Author Statement
    more info
    PubMed 
    blood coagulation, extrinsic pathway TAS
    Traceable Author Statement
    more info
     
    circadian rhythm IEA
    Inferred from Electronic Annotation
    more info
     
    organ regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-glutamic acid carboxylation TAS
    Traceable Author Statement
    more info
     
    positive regulation of blood coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell migration TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of leukocyte chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of platelet-derived growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of positive chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein kinase B signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to estrogen IEA
    Inferred from Electronic Annotation
    more info
     
    response to growth hormone IEA
    Inferred from Electronic Annotation
    more info
     
    response to vitamin K IEA
    Inferred from Electronic Annotation
    more info
     
    signal peptide processing 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 TAS
    Traceable Author Statement
    more info
     
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    coagulation factor VII
    Names
    FVII coagulation protein
    coagulation factor VII (serum prothrombin conversion accelerator)
    eptacog alfa
    proconvertin
    NP_000122.1
    NP_001254483.1
    NP_062562.1

    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_009262.1 RefSeqGene

      Range
      4998..19891
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_554

    mRNA and Protein(s)

    1. NM_000131.4NP_000122.1  coagulation factor VII isoform a preproprotein

      See identical proteins and their annotated locations for NP_000122.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AI076552, AK310779, AL137002, M13232
      Consensus CDS
      CCDS9528.1
      UniProtKB/Swiss-Prot
      P08709
      Related
      ENSP00000364731, OTTHUMP00000018733, ENST00000375581, OTTHUMT00000045838
      Conserved Domains (5) summary
      smart00020
      Location:212446
      Tryp_SPc; Trypsin-like serine protease
      smart00069
      Location:42104
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues
      cd00054
      Location:106142
      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:213449
      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:151187
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    2. NM_001267554.1NP_001254483.1  coagulation factor VII isoform c precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks three consecutive exons in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AI076552, AK298404, AK310779, AL137002
      Consensus CDS
      CCDS73602.1
      UniProtKB/TrEMBL
      B4DPM2, F5H8B0
      Related
      ENSP00000442051, ENST00000541084
      Conserved Domains (4) summary
      smart00020
      Location:128362
      Tryp_SPc; Trypsin-like serine protease
      cd00054
      Location:2258
      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:129365
      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:67103
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    3. NM_019616.3NP_062562.1  coagulation factor VII isoform b precursor

      See identical proteins and their annotated locations for NP_062562.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is shorter than isoform a. This isoform (b) may undergo proteolytic processing similar to isoform a.
      Source sequence(s)
      AI076552, AK310779, AL137002, BC130468
      Consensus CDS
      CCDS9529.1
      UniProtKB/Swiss-Prot
      P08709
      Related
      ENSP00000329546, OTTHUMP00000018734, ENST00000346342, OTTHUMT00000045839
      Conserved Domains (5) summary
      smart00020
      Location:190424
      Tryp_SPc; Trypsin-like serine protease
      smart00069
      Location:2182
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues
      cd00054
      Location:84120
      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:191427
      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:129165
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    RNA

    1. NR_051961.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two internal exons and uses two alternate splice sites, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI076552, AK310779, AK311682, AL137002

    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_000013.11 Reference GRCh38.p7 Primary Assembly

      Range
      113105773..113120681
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537474.2XP_011535776.2  

    2. XM_006719963.3XP_006720026.2  

    3. XM_011537475.2XP_011535777.2  

    4. XM_011537476.2XP_011535778.1  

      Conserved Domains (3) summary
      smart00020
      Location:110344
      Tryp_SPc; Trypsin-like serine protease
      cd00190
      Location:111347
      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:4985
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    Alternate CHM1_1.1

    Genomic

    1. NC_018924.2 Alternate CHM1_1.1

      Range
      113728824..113743117
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)