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F8 coagulation factor VIII [ Homo sapiens (human) ]

Gene ID: 2157, updated on 20-Apr-2020

Summary

Official Symbol
F8provided by HGNC
Official Full Name
coagulation factor VIIIprovided by HGNC
Primary source
HGNC:HGNC:3546
See related
Ensembl:ENSG00000185010 MIM:300841
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
AHF; F8B; F8C; HEMA; FVIII; DXS1253E
Summary
This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008]
Expression
Broad expression in fat (RPKM 7.9), lung (RPKM 6.4) and 23 other tissues See more
Orthologs

Genomic context

Location:
Xq28
Exon count:
27
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (154835788..155022723, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (154064063..154255351, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 37 Neighboring gene small integral membrane protein 9 Neighboring gene int22h-1 recombination region Neighboring gene microRNA 1184-1 Neighboring gene H2A.B variant histone 1 Neighboring gene coagulation factor VIII associated 1 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 31 Neighboring gene zinc finger protein 622 pseudogene Neighboring gene int1h-1 recombination region Neighboring gene FUN14 domain containing 2 Neighboring gene mature T cell proliferation 1 Neighboring gene C-X9-C motif containing 4

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hereditary factor VIII deficiency disease
MedGen: C0019069 OMIM: 306700 GeneReviews: Hemophilia A
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-04-05)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-05)

ClinGen Genome Curation Page

NHGRI GWAS Catalog

Description
Genetically distinct subsets within ANCA-associated vasculitis.
NHGRI GWA Catalog
Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120-treated vaginal epithelial cells show upregulation of coagulation factor VIII (F8) expression as compared to untreated control PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
copper ion binding IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
COPII vesicle coating TAS
Traceable Author Statement
more info
 
ER to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
acute-phase response IEA
Inferred from Electronic Annotation
more info
 
blood coagulation TAS
Traceable Author Statement
more info
PubMed 
blood coagulation, intrinsic pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
blood coagulation, intrinsic pathway TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
platelet activation IEA
Inferred from Electronic Annotation
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
COPII-coated ER to Golgi transport vesicle TAS
Traceable Author Statement
more info
 
Golgi membrane IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
endoplasmic reticulum-Golgi intermediate compartment membrane TAS
Traceable Author Statement
more info
 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
platelet alpha granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
coagulation factor VIII
Names
antihemophilic factor
coagulation factor VIII A1 domain
coagulation factor VIII C2 domain
coagulation factor VIII, procoagulant component
coagulation factor VIIIc
factor VIII F8B

NCBI Reference Sequences (RefSeq)

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_011403.1 RefSeqGene

    Range
    5001..191936
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000132.4NP_000123.1  coagulation factor VIII isoform a preproprotein

    See identical proteins and their annotated locations for NP_000123.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) consists of 26 exons and encodes the full-length isoform (a).
    Source sequence(s)
    AC109993, BC022513, M14113
    Consensus CDS
    CCDS35457.1
    UniProtKB/Swiss-Prot
    P00451
    Related
    ENSP00000353393.4, ENST00000360256.9
    Conserved Domains (8) summary
    smart00231
    Location:20392188
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
    cd00057
    Location:21952344
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
    cd04227
    Location:399575
    CuRO_3_FVIII_like; The third cupredoxin domain of coagulation factor VIII and similar proteins
    cd04228
    Location:17141880
    CuRO_5_FVIII_like; The fifth cupredoxin domain of coagulation factor VIII and similar proteins
    cd11015
    Location:211345
    CuRO_2_FVIII_like; The second cupredoxin domain of coagulation factor VIII and similar proteins
    cd11016
    Location:588730
    CuRO_4_FVIII_like; The fourth cupredoxin domain of coagulation factor VIII and similar proteins
    cd11018
    Location:18922035
    CuRO_6_FVIII_like; The sixth cupredoxin domain of coagulation factor VIII and similar proteins
    cd14452
    Location:22201
    CuRO_1_FVIII_like; The first cupredoxin domain of coagulation factor VIII and similar proteins
  2. NM_019863.2NP_063916.1  coagulation factor VIII isoform b

    See identical proteins and their annotated locations for NP_063916.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an unique 5' exon located within intron 22 of transcript variant 1. This exon codes for eight amino acids and is spliced to exons 23-26 maintaining the reading frame. The resulting isoform (b) is considerably shorter compared to isoform a, and includes the phospholipid binding domain.
    Source sequence(s)
    BC022513, BC064380, BI547023
    Consensus CDS
    CCDS44026.1
    UniProtKB/Swiss-Prot
    P00451
    Related
    ENSP00000327895.6, ENST00000330287.10
    Conserved Domains (2) summary
    cd00057
    Location:60209
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
    cl25480
    Location:452
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    154835788..155022723 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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