F13A1 (coagulation factor XIII A chain)

Gene

• Entrez ID: 2162
• Gene name: Coagulation factor XIII A chain
• Gene symbol: F13A1
• Synonyms: F13A
• Chromosome: 6
• Chromosome location: 6p25.1
• Summary: 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 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
rs121913068	C>T	Pathogenic	Missense variant, coding sequence variant
rs121913069	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs121913070	C>A	Pathogenic	Missense variant, coding sequence variant
rs121913072	C>T	Pathogenic	Missense variant, coding sequence variant
rs121913073	C>A	Pathogenic	Missense variant, coding sequence variant
rs121913074	T>C	Pathogenic	Missense variant, coding sequence variant
rs267606787	G>A	Pathogenic	Coding sequence variant, missense variant
rs267606788	A>G	Pathogenic	Coding sequence variant, missense variant
rs267606789	G>A	Pathogenic	Coding sequence variant, stop gained
rs372296352	C>T	Pathogenic	Splice acceptor variant
rs768024997	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs778181928	G>A,C	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs1416626948	TTCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1561645895	AT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1561673120	C>A	Pathogenic	Missense variant, coding sequence variant

miRNA

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
MIRT974291	hsa-miR-1276	CLIP-seq
MIRT974292	hsa-miR-143	CLIP-seq
MIRT974293	hsa-miR-188-3p	CLIP-seq
MIRT974294	hsa-miR-203	CLIP-seq
MIRT974295	hsa-miR-299-3p	CLIP-seq
MIRT974296	hsa-miR-3129-3p	CLIP-seq
MIRT974297	hsa-miR-3156-3p	CLIP-seq
MIRT974298	hsa-miR-412	CLIP-seq
MIRT974299	hsa-miR-4307	CLIP-seq
MIRT974300	hsa-miR-4311	CLIP-seq
MIRT974301	hsa-miR-4324	CLIP-seq
MIRT974302	hsa-miR-4422	CLIP-seq
MIRT974303	hsa-miR-4428	CLIP-seq
MIRT974304	hsa-miR-4491	CLIP-seq
MIRT974305	hsa-miR-4637	CLIP-seq
MIRT974306	hsa-miR-4648	CLIP-seq
MIRT974307	hsa-miR-4654	CLIP-seq
MIRT974308	hsa-miR-4657	CLIP-seq
MIRT974309	hsa-miR-4719	CLIP-seq
MIRT974310	hsa-miR-4744	CLIP-seq
MIRT974311	hsa-miR-4769-5p	CLIP-seq
MIRT974312	hsa-miR-4770	CLIP-seq
MIRT974313	hsa-miR-544b	CLIP-seq
MIRT974314	hsa-miR-577	CLIP-seq
MIRT974315	hsa-miR-583	CLIP-seq
MIRT974286	hsa-miR-105	CLIP-seq
MIRT1988660	hsa-miR-128	CLIP-seq
MIRT1988661	hsa-miR-182	CLIP-seq
MIRT1988662	hsa-miR-192	CLIP-seq
MIRT1988663	hsa-miR-215	CLIP-seq
MIRT1988664	hsa-miR-25	CLIP-seq
MIRT1988665	hsa-miR-27a	CLIP-seq
MIRT1988666	hsa-miR-27b	CLIP-seq
MIRT1988667	hsa-miR-32	CLIP-seq
MIRT1988668	hsa-miR-324-5p	CLIP-seq
MIRT1988669	hsa-miR-363	CLIP-seq
MIRT1988670	hsa-miR-367	CLIP-seq
MIRT1988671	hsa-miR-4470	CLIP-seq
MIRT1988672	hsa-miR-4677-3p	CLIP-seq
MIRT974309	hsa-miR-4719	CLIP-seq
MIRT1988673	hsa-miR-92a	CLIP-seq
MIRT1988674	hsa-miR-92b	CLIP-seq
MIRT1988675	hsa-miR-934	CLIP-seq
MIRT974286	hsa-miR-105	CLIP-seq
MIRT1988661	hsa-miR-182	CLIP-seq
MIRT1988671	hsa-miR-4470	CLIP-seq
MIRT1988672	hsa-miR-4677-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ETS1	Unknown	10037697
GATA1	Unknown	10037697

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002576	Process	Platelet degranulation	TAS
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	IBA	21873635
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	IDA	27363989
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005576	Component	Extracellular region	TAS
GO:0007596	Process	Blood coagulation	TAS
GO:0018149	Process	Peptide cross-linking	IBA	21873635
GO:0018149	Process	Peptide cross-linking	IDA	27363989
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231, 28344315, 28675934
GO:0072378	Process	Blood coagulation, fibrin clot formation	IBA	21873635
GO:0072378	Process	Blood coagulation, fibrin clot formation	IDA	27363989
GO:0072562	Component	Blood microparticle	HDA	22516433

Other IDs

• MIM: 134570
• HGNC: 3531
• e!Ensembl: ENSG00000124491

Protein

• 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

Pathways

KEGG:

Complement and coagulation cascades
Coronavirus disease - COVID-19

Reactome:

Platelet degranulation
Common Pathway of Fibrin Clot Formation
Interleukin-4 and Interleukin-13 signaling

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Alzheimer disease	Alzheimer`s Disease	rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316	26830138, 21116278
Dermatitis	Dermatitis, Allergic Contact	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	17374397
Hereditary factor xiii deficiency	Hereditary Factor XIII Deficiency	rs1561673120	1644910, 21738029
Liver failure	Liver Failure	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Myocardial infarction	Myocardial Infarction	rs12316150, rs41303970, rs909253, rs7291467, rs2234693	17393027
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	23555315
Thrombophilia	Thrombophilia	rs118203912, rs118203911, rs121918141, rs121918142, rs121918143, rs121918144, rs121918145, rs121918146, rs121918147, rs121918148, rs121918149, rs121918151, rs121918152, rs121918153, rs121918154, rs1558715857, rs121918155, rs121918157, rs121918158, rs2104934553, rs121918159, rs121918160, rs121918477, rs121918473, rs121918474, rs267606981, rs2107137679, rs121918475, rs387906674, rs387907201, rs369504169, rs142742242, rs373983977, rs368074804, rs574132670, rs757583846, rs863224838, rs121918476, rs1333329860, rs1553424043, rs1553808038, rs5017717, rs374476971, rs1553809314, rs1553423955, rs767112991, rs1558718572, rs571278160, rs766261022, rs1321566264, rs1559926604, rs1241365457, rs759677822, rs1448630830, rs1305782685, rs1571577365, rs1247269491, rs777486993, rs201907715, rs769277939, rs199469503, rs1575904540, rs199469494, rs199469471, rs1189377845, rs1576182848, rs1688218776, rs1456533664, rs1709033502, rs1708668246, rs1708665916

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital factor xiii deficiency	Congenital factor XIII deficiency
Hematomas	Spontaneous hematomas
Myeloid leukemia	Myeloid Leukemia
Thrombosis	Deep Vein Thrombosis, Thrombosis of cerebral veins		10365735