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F13A1 Gene

protein-coding   GIFtS: 69
GCID: GC06M006089

Coagulation Factor XIII, A1 Polypeptide


(Previous symbol: F13A)
  See F13A1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 juvenile xanthogranuloma, and xanthoma disseminatum. GO annotations related to this gene include 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   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 Chromatin IP Primers for F13A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
Sequence caution: Sequence=AAA52489.1; Type=Erroneous initiation; Sequence=BAD92089.1; Type=Erroneous initiation;
Selected PDB 3D structures from and Proteopedia for F13A1 (see all 9):
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: 

  • The activation peptide is released by thrombin1
  • Glycosylation2 at Asn614
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for F13A1 (P00488) (see all 8)
     FAEVNSD  WMTRPDL  LIVRRGQ  YILFNPWC 


    See F13A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000120.2  
    ENSEMBL proteins: 
     ENSP00000264870   ENSP00000394693   ENSP00000413334   ENSP00000416295   ENSP00000411114  
    Reactome Protein details: P00488

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

    Selected 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


    Find genes that share domains with F13A1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003810protein-glutamine gamma-glutamyltransferase activity TAS--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with F13A1           About GenesLikeMe


    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 

    Find genes that share phenotypes with F13A1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out F13a1tm1Gdi for F13A1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for F13A1
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    hsa-miR-1271 hsa-miR-1205 hsa-miR-764 hsa-miR-105 hsa-miR-27b* hsa-miR-155 hsa-miR-3148 hsa-miR-450b-5p
    SwitchGear 3'UTR luciferase reporter plasmidF13A1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    F13A_HUMAN, P00488: Cytoplasm. Secreted. Note=Secreted into the blood plasma. Cytoplasmic in most tissues, but
    also secreted in the blood plasma
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol3
    nucleus2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0031093platelet alpha granule lumen TAS--
    GO:0072562blood microparticle IDA--

    Find genes that share ontologies with F13A1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for F13A1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Formation of Fibrin Clot (Clotting Cascade)
    Formation of Fibrin Clot (Clotting Cascade)0.51
    Extrinsic Prothrombin Activation Pathway0.00
    Common Pathway0.00
    2Response to elevated platelet cytosolic Ca2+
    Response to elevated platelet cytosolic Ca2+0.94
    Platelet degranulation0.94
    3Hemostasis
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43
    4Collagen biosynthesis and modifying enzymes
    Intrinsic Prothrombin Activation Pathway0.39
    Blood Coagulation Cascade0.38
    5Complement and coagulation cascades
    Complement and coagulation cascades0.71


    Find genes that share SuperPaths with F13A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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


    2 Reactome Pathways for F13A1
        Platelet degranulation
    Common Pathway


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

        Pathway & Disease-focused RT2 Profiler PCR Array including F13A1: 
              Wound Healing in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for F13A1

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

    Selected Interacting proteins for F13A1 (P004882, 3 ENSP000002648704) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    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:    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--

    Find genes that share ontologies with F13A1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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

    Selected 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  



    Find genes that share compounds with F13A1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    hsa-miR-1271 hsa-miR-1205 hsa-miR-764 hsa-miR-105 hsa-miR-27b* hsa-miR-155 hsa-miR-3148 hsa-miR-450b-5p
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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 

    Selected AceView cDNA sequences (see all 268):

    AI359399 BF725271 BX403516 H88754 AL542145 AK130666 BX361150 BX378998 
    CA414236 CR612572 AI146398 AU120508 BQ011797 CR620128 BP346119 AI074666 
    H24803 BQ447657 CA393826 AA634117 BQ181975 BM973214 BQ773609 AW026260 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    F13A1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 11) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Monocytes Peripheral Blood
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Bone (Muscoskeletal System)
             Chondrocyte-like cells
     
     Cartilage (Muscoskeletal System)
             Chondrocyte-like cells
     
     Yolk Sac (Extraembryonic Tissues)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
    F13A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    F13A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.335513
        Pathway & Disease-focused RT2 Profiler PCR Array including F13A1: 
              Wound Healing in human mouse rat

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    In Situ
    Assay Products:
     

     
    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for F13A1 gene from Selected species (see all 14)    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_028784.31  NP_083060.21 
     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
    coagulation factor XIII, A1 polypeptide
    67(a)
    1 ↔ 1
    GL343421.1(664628-815168)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia f13a11 coagulation factor XIII, A1 polypeptide 65.71(n)
    63.97(a)
      100491279  XM_002936425.2  XP_002936471.1 
    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)
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    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

    Find genes that share paralogs with F13A1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    F13A_HUMAN, P00488: 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


    Selected SNPs for F13A1 (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
    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
    rs1829746251,2
    --6072629(+) ATAGTC/TTCTGG 1 -- ds50010--------

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

    Structural Variations
         Database of Genomic Variants (DGV) Selected 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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing F13A1
    DNA2.0 Custom Variant and Variant Library Synthesis for F13A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 134570   
    OMIM disorders: 613225  608446  188050  
    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

  • Selected diseases for F13A1 (see all 31):    
    About MalaCards
    juvenile xanthogranuloma    xanthoma disseminatum    angiolipoma    myocardial infarction, protection against
    self-healing papular mucinosis    granuloma annulare    papular mucinosis    factor xiii subunit a deficiency
    factor xiii deficiency    factor xiiia deficiency    histiocytosis    venous thrombosis, protection against
    indeterminate cell histiocytosis    scleromyxedema    prothrombin-related thrombophilia    dermatofibrosarcoma protuberans
    fibrous histiocytoma    histiocytoma    dermatofibrosarcoma    cutaneous fibrous histiocytoma

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

    Find genes that share disorders with F13A1           About GenesLikeMe

    Selected 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)
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    PubMed articles for F13A1 gene, integrated from 10 sources (see all 634):
    (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. (Thromb. Haemost. 2006)
    2. Polymorphism of genes related to cardiovascular disease in patients with rheumatoid arthritis. (PubMed id 18173921)1, 4, 9 Arlestig L....RantapAoAo-Dahlqvist S. (Clin. Exp. Rheumatol. 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. (J. Thromb. Haemost. 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. (Br. J. Haematol. 2002)
    5. Identification of a point mutation in factor XIII A subunit deficiency. (PubMed id 1353995)1, 2, 9 Board P.... Miloszewski K. (Blood 1992)
    6. Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. (PubMed id 21116278)1, 4 Furney S.J.... . (Mol. Psychiatry 2011)
    7. Genetic cardiovascular risk factors and age-related macular degeneration. (PubMed id 19860767)1, 4 Haas P....Binder S. (Acta Ophthalmol 2011)
    8. A prospective case-control study analyzes 12 thrombophilic gene mutations in Turkish couples with recurrent pregnancy loss. (PubMed id 19906129)1, 4 Yenicesu G.I....Kocak N. (Am. J. Reprod. Immunol. 2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. Common genetic coagulation variants are not associated with ischemic stroke in a case-control study. (PubMed id 19660184)1, 4 Moskau S....Linnebank M. (Neurol. Res. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 2162 HGNC: 3531 AceView: F13A1 Ensembl:ENSG00000124491 euGenes: HUgn2162
    ECgene: F13A1 Kegg: 2162 H-InvDB: F13A1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for F13A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=F13A1[genesymbol]
    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.)
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    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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