F13A1 (coagulation factor XIII A chain)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2162
Gene name Gene Name - the full gene name approved by the HGNC.
Coagulation factor XIII A chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
F13A1
Synonyms (NCBI Gene) Gene synonyms aliases
F13A
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p25.1
Summary Summary of gene provided in NCBI Entrez 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 hav
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
SNP ID Visualize variation Clinical significance Consequence
rs2815822 T>A,C,G Pathogenic, benign Intron variant
rs121913064 C>A,T Pathogenic Missense variant, coding sequence variant
rs121913065 G>A Pathogenic Stop gained, coding sequence variant
rs121913066 G>A,T Pathogenic Stop gained, coding sequence variant, synonymous variant
rs121913067 G>A,C,T Pathogenic Missense variant, coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(52)
miRTarBase ID miRNA Experiments Reference
MIRT974286 hsa-miR-105 CLIP-seq
MIRT974287 hsa-miR-1200 CLIP-seq
MIRT974288 hsa-miR-1260 CLIP-seq
MIRT974289 hsa-miR-1260b CLIP-seq
MIRT974290 hsa-miR-1273f CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
ETS1 Unknown 10037697
GATA1 Unknown 10037697
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(24)
GO ID Ontology Definition Evidence Reference
GO:0003810 Function Protein-glutamine gamma-glutamyltransferase activity IBA
GO:0003810 Function Protein-glutamine gamma-glutamyltransferase activity IDA 27363989
GO:0003810 Function Protein-glutamine gamma-glutamyltransferase activity IEA
GO:0003810 Function Protein-glutamine gamma-glutamyltransferase activity TAS 2877456
GO:0005515 Function Protein binding IPI 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
134570 3531 ENSG00000124491
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P00488
Protein name Coagulation factor XIII A chain (Coagulation factor XIIIa) (EC 2.3.2.13) (Protein-glutamine gamma-glutamyltransferase A chain) (Transglutaminase A chain)
Protein 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 inhibit
PDB 1EVU , 1EX0 , 1F13 , 1FIE , 1GGT , 1GGU , 1GGY , 1QRK , 4KTY , 5MHL , 5MHM , 5MHN , 5MHO , 8CMT , 8CMU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00868 Transglut_N 45 → 165 Transglutaminase family Domain
PF01841 Transglut_core 284 → 398 Transglutaminase-like superfamily Family
PF00927 Transglut_C 519 → 623 Transglutaminase family, C-terminal ig like domain Domain
PF00927 Transglut_C 631 → 728 Transglutaminase family, C-terminal ig like domain Domain
Sequence 
MSETSRTAFGGRRAVPPNNSNAAEDDLPTVELQGVVPRGVNLQEFLNVTSVHLFKERWDT
NKVDHHTDKYENNKLIVRRGQSFYVQIDFSRPYDPRRDLFRVEYVIGRYPQENKGTYIPV
PIVSELQSGKWGAKIVMREDRSVRLSIQSSPKCIVGKFRMYVAVWTPYGVLRTSRNPETD
TYILFNPWCEDDAVYLDNEKEREEYVLNDIGVIFYGEVNDIKTRSWSYGQFEDGILDTCL
YVMDRAQMDLSGRGNPIKVSRVGSAMVNAKDDEGVLVGSWDNIYAYGVPPSAWTGSVDIL
LEYRSSENPVRYGQCWVFAGVFNTFLRCLGIPARIVTNYFSAHDNDANLQMDIFLEEDGN
VNSKLTKDSVWNYHCWNEAWMTRPDLPVGFGGWQAVDSTPQENSDGMYRCGPASVQAIKH
GHVCFQFDAPFVFAEVNSDLIYITAKKDGTHVVENVDATHIGKLIVTKQIGGDGMMDITD
TYKFQEGQEEERLALETALMYGAKKPLNTEGVMKSRSNVDMDFEVENAVLGKDFKLSITF
RNNSHNRYTITAYLSANITFYTGVPKAEFKKETFDVTLEPLSFKKEAVLIQAGEYMGQLL
EQASLHFFVTARINETRDVLAKQKSTVLTIPEIIIKVRGTQVVGSDMTVTVQFTNPLKET
LRNVWVHLDGPGVTRPMKKMFREIRPNSTVQWEEVCRPWVSGHRKLIASMSSDSLRHVYG
ELDVQIQRRPSM
Sequence length 732
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Complement and coagulation cascades
Coronavirus disease - COVID-19 		  Platelet degranulation
Common Pathway of Fibrin Clot Formation
Interleukin-4 and Interleukin-13 signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hereditary Factor XIII Deficiency Hereditary factor XIII deficiency disease rs1561673120 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma (childhood onset) N/A N/A GWAS
Congenital Factor XIII Deficiency factor XIII, A subunit, deficiency of N/A N/A GenCC
Neuroticism Neuroticism N/A N/A GWAS
Show/Hide Text Mining Associations (120)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
18 Hydroxylase deficiency Associate 9531593
Abdominal Injuries Inhibit 23995569
Abdominal Injuries Associate 30446716
Abortion Spontaneous Associate 9920838
Airway Obstruction Associate 26525229
Allergic Fungal Sinusitis Stimulate 23541322
Angina Unstable Inhibit 25693916
Angina Unstable Associate 25693916
Angiomyolipoma Associate 1675869
Aortic Aneurysm Abdominal Associate 25384012