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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

F13A1 Gene

protein-coding   GIFtS: 69
GCID: GC06M006089

Coagulation Factor XIII, A1 Polypeptide


(Previous symbol: F13A)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Coagulation Factor XIII, A1 Polypeptide1 2     Coagulation Factor XIII A Chain2
F13A1 2 3 5     Coagulation Factor XIII, A Polypeptide2
Coagulation Factor XIIIa2 3     Factor XIIIa2
Protein-Glutamine Gamma-Glutamyltransferase A Chain2 3     Fibrin Stabilizing Factor, A Subunit2
Transglutaminase A Chain2 3     fibrinoligase2
EC 2.3.2.133 8     FSF, A Subunit2
TGase2     Transglutaminase. Plasma2
BA525O21.1 (Coagulation Factor XIII, A1 Polypeptide)2     

External Ids:    HGNC: 35311   Entrez Gene: 21622   Ensembl: ENSG000001244917   OMIM: 1345705   UniProtKB: P004883   

Export aliases for F13A1 gene to outside databases

Previous GC identifer: GC06M006129


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for F13A1 Gene:
This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become
activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2
B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may
serve as plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to
those of plasma origin. Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion,
the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet
factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine
crosslinking between fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin
inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency is classified into two
categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency,
characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency,
defective wound healing, and habitual abortion. (provided by RefSeq, Jul 2008)

GeneCards Summary for F13A1 Gene: 
F13A1 (coagulation factor XIII, A1 polypeptide) is a protein-coding gene. Diseases associated with F13A1 include factor xiii deficiency, and juvenile xanthogranuloma, and among its related super-pathways are Extrinsic Prothrombin Activation Pathway and Response to elevated platelet cytosolic Ca2+. GO annotations related to this gene include metal ion binding and protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is TGM3.

UniProtKB/Swiss-Prot: F13A_HUMAN, P00488
Function: Factor XIII is activated by thrombin and calcium ion to a transglutaminase that catalyzes the formation
of gamma-glutamyl-epsilon-lysine cross-links between fibrin chains, thus stabilizing the fibrin clot. Also
cross-link alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin

Gene Wiki entry for F13A1 (Coagulation factor XIII, A1 polypeptide) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_007592.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the F13A1 gene promoter:
         Nkx3-1   Nkx3-1 v4   RP58   FOXO3   Nkx3-1 v1   FOXO3b   HNF-1A   Nkx3-1 v2   FOXO3a   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidF13A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for F13A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat F13A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p25.3-p24.3   Ensembl cytogenetic band:  6p25.1   HGNC cytogenetic band: 6p24.2-p23

F13A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
F13A1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M006089:  view genomic region     (about GC identifiers)

Start:
6,144,311 bp from pter      End:
6,321,246 bp from pter
Size:
176,936 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: F13A_HUMAN, P00488 (See protein sequence)
Recommended Name: Coagulation factor XIII A chain precursor  
Size: 732 amino acids; 83267 Da
Cofactor: Binds 1 calcium ion per subunit
Subunit: Tetramer of two A chains and two B chains
Subcellular location: Cytoplasm. Secreted. Note=Secreted into the blood plasma. Cytoplasmic in most tissues, but
also secreted in the blood plasma
Sequence caution: Sequence=AAA52489.1; Type=Erroneous initiation; Sequence=BAD92089.1; Type=Erroneous initiation;
6/8 PDB 3D structures from and Proteopedia for F13A1 (see all 8):
1EVU (3D)        1EX0 (3D)        1F13 (3D)        1FIE (3D)        1GGT (3D)        1GGU (3D)    
Secondary accessions: Q59HA7 Q8N6X2 Q96P24 Q9BX29

Explore the universe of human proteins at neXtProt for F13A1: NX_P00488

Explore proteomics data for F13A1 at MOPED 

Post-translational modifications:

  • UniProtKB: The activation peptide is released by thrombin
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P00488

  • 4/8 DME Specific Peptides for F13A1 (P00488) (see all 8)
     FAEVNSD  WMTRPDL  LIVRRGQ  YILFNPWC 

    F13A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    F13A1 Protein Expression
    REFSEQ proteins: NP_000120.2  
    ENSEMBL proteins: 
     ENSP00000264870   ENSP00000394693   ENSP00000413334   ENSP00000416295   ENSP00000411114  
    Reactome Protein details: P00488
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    Cloud-Clone Corp. Proteins for F13A1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0031093platelet alpha granule lumen TAS--

    F13A1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    TGM: Transglutaminases

    5/7 InterPro protein domains (see all 7):
     IPR014756 Ig_E-set
     IPR023608 Gln_gamma-glutamylTfrase_euk
     IPR013783 Ig-like_fold
     IPR002931 Transglutaminase-like
     IPR008958 Transglutaminase_C

    Graphical View of Domain Structure for InterPro Entry P00488

    ProtoNet protein and cluster: P00488

    1 Blocks protein domain: IPB002931 Transglutaminase-like domain

    UniProtKB/Swiss-Prot: F13A_HUMAN, P00488
    Similarity: Belongs to the transglutaminase superfamily. Transglutaminase family


    F13A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: F13A_HUMAN, P00488
    Function: Factor XIII is activated by thrombin and calcium ion to a transglutaminase that catalyzes the formation
    of gamma-glutamyl-epsilon-lysine cross-links between fibrin chains, thus stabilizing the fibrin clot. Also
    cross-link alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin
    Catalytic activity: Protein glutamine + alkylamine = protein N(5)-alkylglutamine + NH(3)

         Genatlas biochemistry entry for F13A1:
    coagulation factor XIII,A1 polypeptide,catalytic subunit (75kDa),catalyzing the formation of glutamyl-lysine bonds
    between fibrin monomers

         Enzyme Number (IUBMB): EC 2.3.2.131 2

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003810protein-glutamine gamma-glutamyltransferase activity TAS--
    GO:0046872metal ion binding IEA--
         
    F13A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for F13A1:
     Increased G1 DNA content 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for F13a1):
     cardiovascular system  hematopoietic system  homeostasis/metabolism  mortality/aging  reproductive system 
     respiratory system 

    F13A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out F13a1tm1Gdi for F13A1

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    SwitchGear 3'UTR luciferase reporter plasmidF13A1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for F13A1 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Common Pathway
    Common Pathway0.69
    Extrinsic Prothrombin Activation Pathway0.69
    2Platelet degranulation
    Platelet degranulation 0.94
    Response to elevated platelet cytosolic Ca2+0.94
    3Platelet activation, signaling and aggregation
    Platelet activation, signaling and aggregation0.43
    Hemostasis0.43
    4Collagen biosynthesis and modifying enzymes
    Intrinsic Prothrombin Activation Pathway0.40
    Blood Coagulation Cascade0.39
    5Complement and coagulation cascades
    Complement and coagulation cascades0.71

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for F13A1
        Selected targets of HNF1

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for F13A1
        Extrinsic Prothrombin Activation Pathway
    Blood Coagulation Cascade
    Intrinsic Prothrombin Activation Pathway


    5/6        Reactome Pathways for F13A1 (see all 6)
        Hemostasis
    Formation of Fibrin Clot (Clotting Cascade)
    Platelet degranulation
    Platelet activation, signaling and aggregation
    Response to elevated platelet cytosolic Ca2+


    1         Kegg Pathway  (Kegg details for F13A1):
        Complement and coagulation cascades


    F13A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for F13A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/50 Interacting proteins for F13A1 (P004882, 3 ENSP000002648704) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ANXA7P200732, 3MINT-8248329 I2D: score=2 
    CDKN1AP389362, 3MINT-8251860 I2D: score=2 
    NUDT21O438092, 3MINT-8264325 I2D: score=2 
    PTK2Q053972, 3MINT-8267552 I2D: score=2 
    SH3GL2Q999622, 3MINT-8270451 I2D: score=2 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002576platelet degranulation TAS--
    GO:0007596blood coagulation TAS--
    GO:0018149peptide cross-linking IEA--
    GO:0030168platelet activation TAS--

    F13A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    F13A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for F13A1 (F13A)

    3 HMDB Compounds for F13A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    AmmoniaNH3 (see all 31)7664-41-7--
    CalciumCa (see all 2)7440-70-2--
    L-Glutamine(2S)-2,5-diamino-5-oxopentanoic acid (see all 31)56-85-9--

    3 DrugBank Compounds for F13A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamine(S)-2,5-diamino-5-oxopentanoic acid (see all 4)56-85-9enzymesubstrate17139284 2913946 17016423 9603949 3390446
    1,2-Propanediol-- 57-55-6target--17139284 17016423
    N-Acetyl-Serine-- 16354-58-8target--17139284 17016423

    10/28 Novoseek inferred chemical compound relationships for F13A1 gene (see all 28)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epsilon-(gamma-glutamyl)lysine 75.6 3 9465033 (1), 11460466 (1), 9724734 (1)
    fibrinogen 74.1 79 1685332 (3), 10631982 (3), 19198072 (3), 9710118 (2) (see all 53)
    reticulin 54.6 1 1505929 (1)
    monodansylcadaverine 53.2 1 1680857 (1)
    s 100 47.9 2 1281618 (1), 11285404 (1)
    glutamine 43.5 6 9603949 (2), 15362870 (1), 9312106 (1), 9724734 (1) (see all 5)
    amine 42.3 6 1352131 (1), 10799541 (1), 1978326 (1), 16636049 (1) (see all 6)
    hematoxylin 30.2 3 7512798 (1), 10366399 (1), 15803191 (1)
    lysine 28.7 5 15837518 (1), 11460477 (1), 19257897 (1), 9603949 (1)
    heparinoids 28.7 1 15989500 (1)

    1 PharmGKB related drug/compound annotation for F13A1 gene    About this table
    Drug/compound PharmGKB Annotation
    aspirinCA  

    Search CenterWatch for drugs/clinical trials and news about F13A1 / F13A

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for F13A1 gene: 
    NM_000129.3  

    Unigene Cluster for F13A1:

    Coagulation factor XIII, A1 polypeptide
    Hs.335513  [show with all ESTs]
    Unigene Representative Sequence: BC027963
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264870(uc003mwv.3 uc011dib.2) ENST00000445223 ENST00000479211
    ENST00000414279 ENST00000431222 ENST00000451619

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    Additional mRNA sequence: 

    AB208852.1 AK130666.1 AK304335.1 AK312735.1 BC027963.1 M14354.1 M14539.1 

    8 DOTS entries:

    DT.453281  DT.100797643  DT.101979204  DT.100702451  DT.121317831  DT.91696727  DT.95370037  DT.121317847 

    24/268 AceView cDNA sequences (see all 268):

    BM973214 AW026260 CR597673 CA427049 BP367341 BX361381 CA414236 CR620128 
    BX379071 BC027963 AI539311 AL541304 AK130666 BF725271 AA235945 BQ773609 
    BQ011797 AA317726 AI146398 AL542145 CF529974 AU120508 AI096407 BU616129 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    F13A1 expression in normal human tissues (normalized intensities)      F13A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGAGACCTC
    F13A1 Expression
    About this image


    F13A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Blood (Extraembryonic Tissues)    fully expand to see all 3 entries
             Peripheral Blood Immature Myeloid Dendritic Cells   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Bone (Muscoskeletal System)
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   
     
     Fibroblast (Uncategorized)
             skin ; fibroblasts   
     
     Lung (Respiratory System)
             trachea   

    See F13A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for F13A1

    SOURCE GeneReport for Unigene cluster: Hs.335513
        SABiosciences Expression via Pathway-Focused PCR Array including F13A1: 
              Wound Healing in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for F13A1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for F13A1 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia F13a11 , 5 coagulation factor XIII, A1 subunit1, 5 84.65(n)1
    86.89(a)1
      13 (14.44 cM)5
    741451  NM_001166391.11  NP_001159863.11 
     368671785 
    chicken
    (Gallus gallus)
    Aves F13A11 coagulation factor XIII, A1 polypeptide 67.81(n)
    65.84(a)
      395420  NM_204685.1  NP_990016.1 
    lizard
    (Anolis carolinensis)
    Reptilia F13A16
    --
    --
    67(a)
    28(a)
    1 ↔ 1
    possible ortholog
    GL343421.1(664628-815168)
    GL344211.1(49828-54630)
    zebrafish
    (Danio rerio)
    Actinopterygii wufo83d042 wufo83d04 74.67(n)   337688  BQ263795.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG73563 protein-glutamine
    gamma-glutamyltransferase
    34(a)     --


    ENSEMBL Gene Tree for F13A1 (if available)
    TreeFam Gene Tree for F13A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for F13A1 gene
    TGM32  TGM12  EPB422  TGM52  TGM72  TGM42  TGM22  TGM62  
    8 SIMAP similar genes for F13A1 using alignment to 7 protein entries:     F13A_HUMAN (see all proteins):
    TGM1    EPB42    TGM2    TGM3    TGM4    TGM6
    TGM5    TGM7

    F13A1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: F13A_HUMAN, P00488
    Polymorphism: There are four main allelic forms of this protein; F13A*1A, F13A*1B, F13A*2A and F13A*2B. In
    addition two other intermediate forms (F13A*(2)A and F13A*(2)B) seem to exist. The sequence shown is that of
    F13A*(2)B


    10/3977 SNPs in F13A1 are shown (see all 3977)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0074744
    Factor XIII subunit A deficiency (FA13AD)4--see VAR_0074742 R H mis40--------
    rs1219130641,2
    Cpathogenic16080615(-) GTTCCA/G/TGTAAA 2 H R mis10--------
    rs59851,2,4
    C,F,A,Hother16247129(-) AGGGCG/TTGGTG 2 V L mis129Minor allele frequency- T:0.21MN NS EA NA WA CSA EU 8693
    VAR_0209104
    ----see VAR_0209102 V I mis40--------
    rs1158558561,2
    F--6072383(+) TAAGCT/CATTGA 1 -- ds50011Minor allele frequency- C:0.01NA 120
    rs1908339691,2
    --6072506(+) CTATAC/TGTGAT 1 -- ds50010--------
    rs95046881,2
    C,F,A,H--6072513(+) TGATTA/GTCATA 1 -- ds500120Minor allele frequency- G:0.20NS EA NA CSA WA 2342
    rs95046891,2
    C--6072524(+) AGACCA/GTAACA 1 -- ds50010--------
    rs95024211,2
    C,F,A,H--6072530(+) TAACAT/GGTGTT 1 -- ds500121Minor allele frequency- G:0.22NS EA NA CSA WA 2348
    rs728150601,2
    C,F--6072537(+) TGTTCG/ATTATG 1 -- ds50012Minor allele frequency- A:0.14WA NA 238

    HapMap Linkage Disequilibrium report for F13A1 (6144311 - 6321246 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/21 variations for F13A1 (see all 21):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2731530CNV Deletion23290073
    esv2245687CNV Deletion18987734
    esv2731526CNV Deletion23290073
    esv2731529CNV Deletion23290073
    esv2383897CNV Deletion18987734
    esv2731527CNV Deletion23290073
    esv2656481CNV Deletion23128226
    esv1659194CNV Deletion17803354
    esv2731525CNV Deletion23290073
    esv2500161CNV Deletion19546169


    Human Gene Mutation Database (HGMD): F13A1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 134570   
    OMIM disorders: 613225  
    UniProtKB/Swiss-Prot: F13A_HUMAN, P00488
  • Factor XIII subunit A deficiency (FA13AD) [MIM:613225]: An autosomal recessive hematologic disorder
    characterized by a life-long bleeding tendency, impaired wound healing and spontaneous abortion in affected
    women. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/125 diseases for F13A1 (see all 125):    About MalaCards
    factor xiii deficiency    juvenile xanthogranuloma    granuloma annulare    papular mucinosis
    self-healing papular mucinosis    langerhans-cell histiocytosis    factor xiii subunit a deficiency    indeterminate cell histiocytosis
    xanthoma disseminatum    factor xiiia deficiency    submandibular adenitis    angiolipoma
    scleromyxedema    non-langerhans-cell histiocytosis    dermatofibrosarcoma    dermatofibrosarcoma protuberans
    histiocytoma    fibrous histiocytoma    prothrombin-related thrombophilia    cutaneous fibrous histiocytoma

    2 diseases from the University of Copenhagen DISEASES database for F13A1:
    Factor XIII deficiency     Cleft lip

    F13A1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/69 Novoseek inferred disease relationships for F13A1 gene (see all 69)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dermatofibroma 92.9 26 16640542 (2), 16740036 (2), 7545142 (2), 7694515 (1) (see all 23)
    dermatofibrosarcoma protuberans 86.4 12 16640542 (2), 16740036 (2), 7694515 (1), 11401666 (1) (see all 10)
    juvenile xanthogranuloma 85.2 3 7511867 (1), 10871066 (1), 15630537 (1)
    histiocytoma fibrous 82.2 7 16640542 (2), 11401666 (1), 1972317 (1), 9185909 (1) (see all 5)
    factor xiii deficiency 76.5 3 14720426 (1), 12801297 (1), 20179087 (1)
    xanthoma disseminatum 69.8 4 1519935 (2)
    fibroma 68.7 4 7523665 (2), 11401666 (1)
    dysfibrinogenemia 62.5 1 10443961 (1)
    hemangiopericytoma 61.5 1 9561329 (1)
    angiofibroma 59.3 3 8733380 (1), 7523665 (1), 14744088 (1)

    Genatlas disease: F13A1
    bleeding tendency,defective wound healing,habitual abortion,fibrin-stabilizing factor deficiency,type II

    Genetic Association Database (GAD): F13A1
    Human Genome Epidemiology (HuGE) Navigator: F13A1 (143 documents)

    Export disorders for F13A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for F13A1 gene, integrated from 9 sources (see all 631):
    (articles sorted by number of sources associating them with F13A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Epistatic and pleiotropic effects of polymorphisms in the fibrinogen and coagulation factor XIII genes on plasma fibrinogen concentration, fibrin gel structure and risk of myocardial infarction. (PubMed id 16525568)1, 4, 9 Mannila M.N....Silveira A. (2006)
    2. Polymorphism of genes related to cardiovascular disease in patients with rheumatoid arthritis. (PubMed id 18173921)1, 4, 9 Arlestig L....Rantapaa-Dahlqvist S. (2007)
    3. Preeclampsia and its interaction with common variants in thrombophilia genes. (PubMed id 15333035)1, 4, 9 De Maat M.P....De Groot C.J. (2004)
    4. Coagulation factor XIII polymorphisms and the risk of myocardial infarction and ischaemic stroke in young women. (PubMed id 11841441)1, 4, 9 Reiner A.P....Siscovick D.S. (2002)
    5. Identification of a point mutation in factor XIII A subunit deficiency. (PubMed id 1353995)1, 2, 9 Board P.... Miloszewski K. (1992)
    6. A prospective case-control study analyzes 12 thrombop hilic gene mutations in Turkish couples with recurrent pregnancy loss. (PubMed id 19906129)1, 4 Yenicesu G.I....Kocak N. (2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    8. Use of genome-wide expression data to mine the ' Gray Zone' of GWA studies leads to novel candidate obesity genes. (PubMed id 20532202)1, 4 Naukkarinen J....Peltonen L. (2010)
    9. Vascular at-risk genotypes and disease severity in Le banese sickle cell disease patients. (PubMed id 20425806)1, 4 Farra C....Oberkanins C. (2010)
    10. Allele-allele interaction within the F13A1 gene: a ri sk factor for ischaemic heart disease in Spanish population. (PubMed id 20553949)1, 4 Carreras-Torres R....Moral P. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2162 HGNC: 3531 AceView: F13A1 Ensembl:ENSG00000124491 euGenes: HUgn2162
    ECgene: F13A1 Kegg: 2162 H-InvDB: F13A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for F13A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/F13A1
    SeattleSNPshttp://pga.gs.washington.edu/data/f13a1/
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=F13A1
    Wikipedia http://en.wikipedia.org/wiki/Factor_XIII

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for F13A1 gene:
    Search GeneIP for patents involving F13A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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