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Aliases & Descriptions for F13A1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| EC 2.3.2.13 3 | | F13A 2, 3, 5 | | TGase 2 | | fibrinoligase 2 |
| | | Descriptions |
|---|
| Coagulation factor XIIIa 3 | | FSF, A subunit 2 | | Protein-glutamine gamma-glutamyltransferase A chain 2, 3 | | Transglutaminase A chain 3 | | bA525O21.1 (coagulation factor XIII, A1 polypeptide) 2 | | coagulation factor XIII A1 subunit 2 | | coagulation factor XIII, A polypeptide 2 | | coagulation factor XIII, A1 polypeptide 2 | | factor XIIIa 2 | | fibrin stabilizing factor, A subunit 2 | | transglutaminase. plasma 2 |
|
| | Search outside databases for aliases for F13A1 genePrevious GC identifer: GC06M006129 |
Summaries for F13A1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for F13A1: 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] UniProtKB/Swiss-Prot: F13A_HUMAN, P00488Function: 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 fibrinGene Wiki entry for F13A1 (Coagulation_factor_XIII%2C_A1_polypeptide) |
Genomic Location for F13A1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the F13A1 gene 
Entrez Gene cytogenetic band: 6p25.3-p24.3 Ensembl cytogenetic band: 6p25.1 HGNC cytogenetic band: 6p24.2-p23F13A1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06M006089:
(about GC identifiers)
Start:
|
6,089,310 bp from pter |
End:
|
6,265,923 bp from pter |
Size:
|
176,614 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000006.10 NT_034880.3
| Proteins for F13A1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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
PDB structures from and Proteopedia :1EVU (3D)
 1EX0 (3D)
 1F13 (3D)
 1FIE (3D)
 1GGT (3D)
 1GGU (3D)
 1GGY (3D)
 1QRK (3D)
 
Secondary accessions: Q59HA7 Q8N6X2 Q96P24Post-translational modifications:
The activation peptide is released by thrombin1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000120.2
ENSEMBL proteins: ENSP00000369294 ENSP00000264870
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for F13A1: Assays for F13A1: | Protein
Domains/ Families for F13A1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P00488
ProtoNet protein and cluster: P00488 1 Blocks protein family: IPB002931 Transglutaminase-like domain
UniProtKB/Swiss-Prot: F13A_HUMAN, P00488Similarity: Belongs to the transglutaminase superfamily. Transglutaminase family | Gene Function for F13A1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000129
Applied Biosystems Silencer® siRNAs for F13A1
Sigma-Aldrich siRNA and siRNA Panels for F13A1  Sigma-Aldrich shRNA Panels and shRNA for F13A1  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000129                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000129                                  untagged cDNA clone in CMV expression vector: NM_000129 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000129
UniProtKB/Swiss-Prot: F13A_HUMAN, P00488Function: 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 fibrinCatalytic activity: Protein glutamine + alkylamine = protein N(5)-alkylglutamine + NH(3)Enzyme Number (IUBMB): EC 2.3.2.13 Genatlas biochemistry entry for F13A1:coagulation factor XIII,A1 polypeptide,catalytic subunit (75kDa),catalyzing the formation of glutamyl-lysine bonds between fibrin monomers6 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for F13a1):
4 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for F13A1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
1 Sigma-Aldrich "Your Favorite Gene" Pathway for F13A1 (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for F13A1 
5/18 Interacting proteins for F13A1 (ENSP000002648703) via UniProtKB, MINT, and/or STRING (see all 18
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for F13A1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for F13A1 10/19 Novoseek chemical compound relationships for F13A1 gene (see all 19
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| fibrinogen |
74.70 |
78 |
1685332 (3), 10631982 (3), 19198072 (3), 9710118 (2) (see all 52) |
| epsilon-(gamma-glutamyl)lysine |
71.08 |
3 |
9465033 (1), 11460466 (1), 9724734 (1) |
| reticulin |
51.80 |
1 |
1505929 (1) |
| s 100 |
48.66 |
2 |
1281618 (1), 11285404 (1) |
| amine |
42.48 |
6 |
1352131 (1), 10799541 (1), 1978326 (1), 16636049 (1) (see all 6) |
| hematoxylin |
28.41 |
3 |
7512798 (1), 10366399 (1), 15803191 (1) |
| b 723 |
28.04 |
4 |
7521638 (2), 12514785 (2) |
| lysine |
22.39 |
5 |
15837518 (1), 11460477 (1), 19257897 (1), 9603949 (1) |
| calcium |
4.02 |
4 |
2059625 (1), 9295325 (1) |
| procollagen |
3.86 |
2 |
7510487 (1), 7538779 (1) |
About this table
|
Transcripts for F13A1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000129
Sigma-Aldrich siRNA and siRNA Panels for F13A1  Sigma-Aldrich shRNA Panels and shRNA for F13A1  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000129 REFSEQ mRNAs for F13A1 gene: NM_000129.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000129               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000129                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000129                                  untagged cDNA clone in CMV expression vector: NM_000129  Additional cDNA sequence: AB208852.1 AK130666.1 AK304335.1 AK312735.1 BC027963.1 CR597673.1 CR612572.1 CR620128.1 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
):AI539311 AU120508 BU078830 BX361381 BX361150 BI765332 BX403516 AW026260 AL542145 CR612572 AI084428 AI096407 BQ181975 BM973214 BX402510 AA025425 BC027963 BQ447657 AL541304 AI146398 AA317726 R80205 BP367341 AA235945
highest scoring ESTs for F13A1:M14539 AL541304 AL542145 BC027963 BI837840 BM921756 BX340175 BX345635 BX361150 BX361381 Unigene Cluster for F13A1: Coagulation factor XIII, A1 polypeptide Hs.335513 [show with all ESTs]Unigene Representative Sequence: BC027963
GeneLoc Exon Structure
2 Ensembl transcripts including schematic representations: ENST00000379960
ENST00000264870
|
Expression for F13A1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| F13A1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for F13A1
1 / 2 / 3 3 probe-sets matching F13A1 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TTGAGACCTC
SOURCE GeneReport for Unigene cluster: Hs.335513
Expression variation in blood from EXPOLDB for F13A1 |
Orthologs for F13A1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for F13A1 gene from 5/9 species (see all 9
)
About this table Species with no ortholog for F13A1
ENSEMBL Gene Tree for F13A1 | Paralogs for F13A1(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for F13A1 gene
- TGM32 TGM12 TGM42 TGM62
|
SNPs/Variants for F13A1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
| UniProtKB/Swiss-Prot: F13A_HUMAN, P00488Polymorphism: 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
HapMap Linkage Disequilibrium images for F13A1 (up to first 250kb)
|
Disorders & Mutations for F13A1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 134570 UniProtKB/Swiss-Prot: F13A_HUMAN, P00488
Defects in F13A1 are the cause of F13A deficiency [MIM:134570]. F13A deficiency is an autosomal recessive disorder characterized by a life-long bleeding tendency, impaired wound healing and spontaneous abortion in affected women. In addition to the common presentation such as subcutaneous and intramuscular haematomas, severe bleeding such as intracranial hemorrhages may occur10/68 Novoseek disease relationships for F13A1 gene (see all 68
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| dermatofibroma |
92.82 |
26 |
16640542 (2), 16740036 (2), 7545142 (2), 7694515 (1) (see all 23) |
| juvenile xanthogranuloma |
85.94 |
3 |
7511867 (1), 10871066 (1), 15630537 (1) |
| dermatofibrosarcoma protuberans |
85.88 |
12 |
16640542 (2), 16740036 (2), 7694515 (1), 11401666 (1) (see all 10) |
| histiocytoma fibrous |
81.97 |
7 |
16640542 (2), 11401666 (1), 1972317 (1), 9185909 (1) (see all 5) |
| factor xiii deficiency |
72.85 |
2 |
14720426 (1), 12801297 (1) |
| xanthoma disseminatum |
70.51 |
3 |
1519935 (2) |
| fibroma |
67.53 |
4 |
7523665 (2), 11401666 (1) |
| dysfibrinogenemia |
63.95 |
1 |
10443961 (1) |
| hemangiopericytoma |
62.52 |
1 |
9561329 (1) |
| angiofibroma |
54.51 |
3 |
8733380 (1), 7523665 (1), 14744088 (1) |
About this table
Genatlas disease: F13A1 bleeding tendency,defective wound healing,habitual abortion,fibrin-stabilizing factor deficiency,type II Human Gene Mutation Database: F13A1 Genetic Association Database: F13A1 Human Genome Epidemiology Navigator: F13A1 (103 documents)
|
Medical News for F13A1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for F13A1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/513 PubMed articles for F13A1 gene (see all 513
):- Preeclampsia and its interaction with common variants in thrombophilia genes. (PubMed id 15333035)1, 3, 6 De Maat M.P....De Groot C.J. (2004)
- Coagulation factor XIII polymorphisms and the risk of myocardial infarction and ischaemic stroke in young women. (PubMed id 11841441)1, 3, 6 Reiner A.P....Siscovick D.S. (2002)
- Identification of a point mutation in factor XIII A subunit deficiency. (PubMed id 1353995)1, 3, 4 Board P.... Miloszewski K. (1992)
- Parent-of-origin transmission of thrombophilic alleles to intrauterine growth-restricted newborns and transmission-ratio distortion in unaffected newborns. (PubMed id 16192348)3, 6 Infante-Rivard C. and Weinberg C.R. (2005)
- Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)3, 4 Liu T.... Smith R.D. (2005)
- Polymorphisms of haemostasis genes as risk factors for preterm delivery. (PubMed id 16113789)3, 6 Hartel C....Gopel W. (2005)
- Turkish population data on the factor XIII Val34Leu,glycoprotein (GP)Ibalpha Kozak and P-selectin glycoprotein ligand 1 (PSGL-1) loci. (PubMed id 15386532)3, 6 Hancer V.S....Nalcaci M. (2005)
- A pharmacogenetic effect of factor XIII valine 34 leucine polymorphism on fibrinolytic therapy for acute myocardial infarction. (PubMed id 15629368)3, 6 Marin F....Vicente V. (2005)
- Factor XIII Val34Leu polymorphism and gamma-chain cross-linking at the site of microvascular injury in healthy and coumadin-treated subjects. (PubMed id 16102108)3, 6 Undas A....Mann K.G. (2005)
- Polymorphisms in prothrombotic genes and their impact on ischemic stroke in a Sardinian population. (PubMed id 15968394)3, 6 Rubattu S....Volpe M. (2005)
|
Search for F13A1
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing F13A1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing F13A1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing F13A1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=F13A1 | | SeattleSNPs | http://pga.gs.washington.edu/data/f13a1/ | | SHMPD | http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=F13A1 | | Wikipedia | http://en.wikipedia.org/wiki/Factor_XIII |
|
| | | About This Section
| --
| Services for F13A1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
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