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    F7 coagulation factor VII [ Homo sapiens (human) ]

    Gene ID: 2155, updated on 2-Nov-2024

    Summary

    Official Symbol
    F7provided by HGNC
    Official Full Name
    coagulation factor VIIprovided by HGNC
    Primary source
    HGNC:HGNC:3544
    See related
    Ensembl:ENSG00000057593 MIM:613878; AllianceGenome:HGNC:3544
    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]
    Expression
    Restricted expression toward liver (RPKM 23.8) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    13q34
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (113105788..113120685)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (112357141..112372343)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (113760102..113774999)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene MCF.2 cell line derived transforming sequence like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113622683-113623202 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5537 Neighboring gene MCF2L antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113632813-113633750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113635625-113636560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113639843-113640840 Neighboring gene uncharacterized LOC107984591 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113668429-113668957 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113676327-113676961 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113676962-113677597 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113681619-113682120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113682121-113682620 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113684208-113684732 Neighboring gene Sharpr-MPRA regulatory region 5526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113695415-113696161 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113704798-113705384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113744195-113744700 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113746783-113747284 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113747285-113747784 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:113750605-113751105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113783538-113784264 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:113784265-113784991 Neighboring gene F10 antisense RNA 1 Neighboring gene lysyl-tRNA synthetase 1 pseudogene 2 Neighboring gene coagulation factor X

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Congenital factor VII deficiency
    MedGen: C0272320 OMIM: 227500 GeneReviews: Not available
    not available
    Myocardial infarction, susceptibility to
    MedGen: C1832662 OMIM: 608446 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
    EBI GWAS Catalog
    Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.
    EBI GWAS Catalog
    Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    contributes_to serine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables serine-type peptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables signaling receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in animal organ regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blood coagulation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in blood coagulation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in circadian rhythm IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of TOR signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of blood coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell migration TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of leukocyte chemotaxis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of leukocyte chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of platelet-derived growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of positive chemotaxis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to 2,3,7,8-tetrachlorodibenzodioxine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to Thyroid stimulating hormone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to astaxanthin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to carbon dioxide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to cholesterol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to estrogen IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to genistein IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to growth hormone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to thyrotropin-releasing hormone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to thyroxine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to vitamin K IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi lumen TAS
    Traceable Author Statement
    more info
     
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of serine-type peptidase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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
    XP_006720026.2
    XP_011535776.2
    XP_011535777.2
    XP_011535778.1
    XP_047286081.1
    XP_054230139.1
    XP_054230140.1
    XP_054230141.1
    XP_054230142.1
    XP_054230143.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      B0YJC8, P08709, Q14339, Q5JVF1, Q5JVF2, Q9UD52, Q9UD53, Q9UD54
      UniProtKB/TrEMBL
      B4DPM2
      Related
      ENSP00000364731.3, ENST00000375581.3
      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_001267554.2NP_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, AL137002
      Consensus CDS
      CCDS73602.1
      UniProtKB/TrEMBL
      B4DPM2, F5H8B0
      Related
      ENSP00000442051.2, ENST00000541084.5
      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_019616.4NP_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/TrEMBL
      B4DPM2
      Related
      ENSP00000329546.4, ENST00000346342.8
      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_051961.2 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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      113105788..113120685
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011537474.3XP_011535776.2  coagulation factor VII isoform X1

      UniProtKB/TrEMBL
      B4DPM2
    2. XM_006719963.4XP_006720026.2  coagulation factor VII isoform X4

      UniProtKB/TrEMBL
      B4DPM2
    3. XM_047430125.1XP_047286081.1  coagulation factor VII isoform X3

    4. XM_011537475.3XP_011535777.2  coagulation factor VII isoform X2

      UniProtKB/TrEMBL
      B4DPM2
    5. XM_011537476.3XP_011535778.1  coagulation factor VII isoform X5

      UniProtKB/TrEMBL
      B4DPM2
      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 T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      112357141..112372343
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374164.1XP_054230139.1  coagulation factor VII isoform X1

    2. XM_054374167.1XP_054230142.1  coagulation factor VII isoform X4

    3. XM_054374166.1XP_054230141.1  coagulation factor VII isoform X3

    4. XM_054374165.1XP_054230140.1  coagulation factor VII isoform X2

    5. XM_054374168.1XP_054230143.1  coagulation factor VII isoform X5