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F13A1 (coagulation factor XIII, A1 polypeptide)

Identity

Other namesF13A
HGNC (Hugo) F13A1
LocusID (NCBI) 2162
Location 6p25.1
Location_base_pair Starts at 6144311 and ends at 6320924 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)F13A1   3531
Cards
Entrez_Gene (NCBI)F13A1  2162  coagulation factor XIII, A1 polypeptide
GeneCards (Weizmann)F13A1
Ensembl (Hinxton)ENSG00000124491 [Gene_View]  chr6:6144311-6320924 [Contig_View]  F13A1 [Vega]
ICGC DataPortalENSG00000124491
cBioPortalF13A1
AceView (NCBI)F13A1
Genatlas (Paris)F13A1
WikiGenes2162
SOURCE (Princeton)NM_000129
Genomic and cartography
GoldenPath (UCSC)F13A1  -  6p25.1   chr6:6144311-6320924 -  6p25.1   [Description]    (hg19-Feb_2009)
EnsemblF13A1 - 6p25.1 [CytoView]
Mapping of homologs : NCBIF13A1 [Mapview]
OMIM134570   188050   608446   613225   
Gene and transcription
Genbank (Entrez)AB208852 AK130666 AK304335 AK312735 BC027963
RefSeq transcript (Entrez)NM_000129
RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NG_008107 NT_007592 NW_001838973 NW_004929326
Consensus coding sequences : CCDS (NCBI)F13A1
Cluster EST : UnigeneHs.335513 [ NCBI ]
CGAP (NCI)Hs.335513
Alternative Splicing : Fast-db (Paris)GSHG0026277
Alternative Splicing GalleryENSG00000124491
Gene ExpressionF13A1 [ NCBI-GEO ]     F13A1 [ SEEK ]   F13A1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP00488 (Uniprot)
NextProtP00488  [Medical]
With graphics : InterProP00488
Splice isoforms : SwissVarP00488 (Swissvar)
Catalytic activity : Enzyme2.3.2.13 [ Enzyme-Expasy ]   2.3.2.132.3.2.13 [ IntEnz-EBI ]   2.3.2.13 [ BRENDA ]   2.3.2.13 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)TRANSGLUTAMINASES (PS00547)   
Domains : Interpro (EBI)Gln_gamma-glutamylTfrase_euk [organisation]   Ig-like_fold [organisation]   Ig_E-set [organisation]   Transglutaminase-like [organisation]   Transglutaminase_C [organisation]   Transglutaminase_CS [organisation]   Transglutaminase_N [organisation]  
Related proteins : CluSTrP00488
Domain families : Pfam (Sanger)Transglut_C (PF00927)    Transglut_core (PF01841)    Transglut_N (PF00868)   
Domain families : Pfam (NCBI)pfam00927    pfam01841    pfam00868   
Domain families : Smart (EMBL)TGc (SM00460)  
DMDM Disease mutations2162
Blocks (Seattle)P00488
PDB (SRS)1EVU    1EX0    1F13    1FIE    1GGT    1GGU    1GGY    1QRK    4KTY   
PDB (PDBSum)1EVU    1EX0    1F13    1FIE    1GGT    1GGU    1GGY    1QRK    4KTY   
PDB (IMB)1EVU    1EX0    1F13    1FIE    1GGT    1GGU    1GGY    1QRK    4KTY   
PDB (RSDB)1EVU    1EX0    1F13    1FIE    1GGT    1GGU    1GGY    1QRK    4KTY   
Human Protein AtlasENSG00000124491 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP00488
HPRD00604
IPIIPI00297550   IPI00513858   IPI00642188   IPI00855773   IPI00855854   
Protein Interaction databases
DIP (DOE-UCLA)P00488
IntAct (EBI)P00488
FunCoupENSG00000124491
BioGRIDF13A1
InParanoidP00488
Interologous Interaction database P00488
IntegromeDBF13A1
STRING (EMBL)F13A1
Ontologies - Pathways
Ontology : AmiGOplatelet degranulation  protein-glutamine gamma-glutamyltransferase activity  extracellular region  blood coagulation  peptide cross-linking  platelet activation  platelet alpha granule lumen  metal ion binding  blood microparticle  
Ontology : EGO-EBIplatelet degranulation  protein-glutamine gamma-glutamyltransferase activity  extracellular region  blood coagulation  peptide cross-linking  platelet activation  platelet alpha granule lumen  metal ion binding  blood microparticle  
Pathways : BIOCARTAFibrinolysis Pathway [Genes]   
Pathways : KEGGComplement and coagulation cascades   
Protein Interaction DatabaseF13A1
Wikipedia pathwaysF13A1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)F13A1
snp3D : Map Gene to Disease2162
SNP (GeneSNP Utah)F13A1
SNP : HGBaseF13A1
Genetic variants : HAPMAPF13A1
Exome VariantF13A1
1000_GenomesF13A1 
ICGC programENSG00000124491 
Somatic Mutations in Cancer : COSMICF13A1 
CONAN: Copy Number AnalysisF13A1 
Mutations and Diseases : HGMDF13A1
Genomic VariantsF13A1  F13A1 [DGVbeta]
dbVarF13A1
ClinVarF13A1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM134570    188050    608446    613225   
MedgenF13A1
GENETestsF13A1
Disease Genetic AssociationF13A1
Huge Navigator F13A1 [HugePedia]  F13A1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneF13A1
Homology/Alignments : Family Browser (UCSC)F13A1
Phylogenetic Trees/Animal Genes : TreeFamF13A1
Chemical/Protein Interactions : CTD2162
Chemical/Pharm GKB GenePA162
Clinical trialF13A1
Cancer Resource (Charite)ENSG00000124491
Other databases
Probes
Litterature
PubMed270 Pubmed reference(s) in Entrez
CoreMineF13A1
iHOPF13A1
OncoSearchF13A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 13:53:39 CEST 2014

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