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F7 coagulation factor VII [ Homo sapiens (human) ]

Gene ID: 2155, updated on 8-Jul-2018
Official Symbol
F7provided by HGNC
Official Full Name
coagulation factor VIIprovided by HGNC
Primary source
HGNC:HGNC:3544
See related
Ensembl:ENSG00000057593 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]
Expression
Restricted expression toward liver (RPKM 23.8) See more
Orthologs
Location:
13q34
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

  • Project title: 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 Jun 15 11:32:44 2016

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
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to serine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
serine-type peptidase activity TAS
Traceable Author Statement
more info
PubMed 
signaling receptor binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
ER to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
animal organ regeneration IEA
Inferred from Electronic Annotation
more info
 
blood coagulation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
blood coagulation IDA
Inferred from Direct Assay
more info
PubMed 
blood coagulation, extrinsic pathway TAS
Traceable Author Statement
more info
 
circadian rhythm IEA
Inferred from Electronic Annotation
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 IBA
Inferred from Biological aspect of Ancestor
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 
protein processing IDA
Inferred from Direct Assay
more info
PubMed 
response to 2,3,7,8-tetrachlorodibenzodioxine IEA
Inferred from Electronic Annotation
more info
 
response to Thyroid stimulating hormone IEA
Inferred from Electronic Annotation
more info
 
response to astaxanthin IEA
Inferred from Electronic Annotation
more info
 
response to carbon dioxide IEA
Inferred from Electronic Annotation
more info
 
response to cholesterol IEA
Inferred from Electronic Annotation
more info
 
response to estradiol IEA
Inferred from Electronic Annotation
more info
 
response to estrogen IEA
Inferred from Electronic Annotation
more info
 
response to genistein IEA
Inferred from Electronic Annotation
more info
 
response to growth hormone IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to thyrotropin-releasing hormone IEA
Inferred from Electronic Annotation
more info
 
response to thyroxine IEA
Inferred from Electronic Annotation
more info
 
response to vitamin K IEA
Inferred from Electronic Annotation
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
serine-type peptidase complex IPI
Inferred from Physical Interaction
more info
PubMed 
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
XP_006720026.2
XP_011535776.2
XP_011535777.2
XP_011535778.1

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
    ENSP00000364731.3, OTTHUMP00000018733, ENST00000375581.3, 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
    ENSP00000442051.2, 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_019616.3NP_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
    ENSP00000329546.3, OTTHUMP00000018734, ENST00000346342.7, 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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

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

  2. XM_006719963.3XP_006720026.2  coagulation factor VII isoform X3

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

  4. XM_011537476.2XP_011535778.1  coagulation factor VII isoform X4

    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
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