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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
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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
Compare labs
Myocardial infarction, susceptibility to
MedGen: C1832662 OMIM: 608446 GeneReviews: Not available
Compare labs

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)

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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