F13A1

Protein identityUniProt · HPA

UniProt accession

P00488

Gene

F13A1

Ensembl

ENSG00000124491

Chromosome

6

Canonical length

732 aa

Protein class

Cancer-related genes, Candidate cardiovascular disease genes, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins

Secretome location

Secreted to blood

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

732 residues, UniProt reviewed canonical sequence.

>P00488|F13A1
     1  MSETSRTAFG GRRAVPPNNS NAAEDDLPTV ELQGVVPRGV NLQEFLNVTS VHLFKERWDT
    61  NKVDHHTDKY ENNKLIVRRG QSFYVQIDFS RPYDPRRDLF RVEYVIGRYP QENKGTYIPV
   121  PIVSELQSGK WGAKIVMRED RSVRLSIQSS PKCIVGKFRM YVAVWTPYGV LRTSRNPETD
   181  TYILFNPWCE DDAVYLDNEK EREEYVLNDI GVIFYGEVND IKTRSWSYGQ FEDGILDTCL
   241  YVMDRAQMDL SGRGNPIKVS RVGSAMVNAK DDEGVLVGSW DNIYAYGVPP SAWTGSVDIL
   301  LEYRSSENPV RYGQCWVFAG VFNTFLRCLG IPARIVTNYF SAHDNDANLQ MDIFLEEDGN
   361  VNSKLTKDSV WNYHCWNEAW MTRPDLPVGF GGWQAVDSTP QENSDGMYRC GPASVQAIKH
   421  GHVCFQFDAP FVFAEVNSDL IYITAKKDGT HVVENVDATH IGKLIVTKQI GGDGMMDITD
   481  TYKFQEGQEE ERLALETALM YGAKKPLNTE GVMKSRSNVD MDFEVENAVL GKDFKLSITF
   541  RNNSHNRYTI TAYLSANITF YTGVPKAEFK KETFDVTLEP LSFKKEAVLI QAGEYMGQLL
   601  EQASLHFFVT ARINETRDVL AKQKSTVLTI PEIIIKVRGT QVVGSDMTVT VEFTNPLKET
   661  LRNVWVHLDG PGVTRPMKKM FREIRPNSTV QWEEVCRPWV SGHRKLIASM SSDSLRHVYG
   721  ELDVQIQRRP SM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against F13A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.23

Highest tissue expression

460 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about F13A1.

Disease | AllUniProt

Conditions F13A1 is implicated in, by any mechanism.

• Factor XIII subunit A deficiency (FA13AD) MIM:613225

Disease | GeneticClinVar

50 pathogenic / likely-pathogenic of 314 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Factor XIII, A subunit, deficiency of
• F13A1-related disorder
• Thrombophilia due to thrombin defect
• Myocardial infarction, susceptibility to
• Factor XIII deficiency

Disease | ImmuneIEDB

Conditions an epitope on F13A1 was assayed in.

• autoimmune disease of blood B cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.74

gnomAD pLI

0

gnomAD missense Z

1.05

DepMap mean gene effect

0.12

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• blood coagulation
• blood coagulation, fibrin clot formation
• peptide cross-linking

Molecular functions

• metal ion binding
• protein-glutamine gamma-glutamyltransferase activity

Cellular components

• blood microparticle
• extracellular matrix
• extracellular region
• extracellular space
• platelet alpha granule lumen
• transferase complex

Protein domainsUniProt · Pfam · InterPro

• Transglutaminase, N-terminal
• Transglutaminase-like
• Transglutaminase, C-terminal
• Immunoglobulin-like fold
• Transglutaminase, active site
• Immunoglobulin E-set
• Protein-glutamine gamma-glutamyltransferase, animal
• Transglutaminase, C-terminal domain superfamily
• Transglutaminase-like superfamily
• Papain-like cysteine peptidase superfamily
• Protein-glutamine gamma-glutamyltransferases
• Transglutaminase family
• Transglutaminase family, C-terminal ig like domain
• Transglutaminase-like superfamily

KeywordsUniProt

• Acetylation
• Acyltransferase
• Blood coagulation
• Calcium
• Cytoplasm
• Glycoprotein
• Hemostasis
• Metal-binding
• Secreted
• Transferase
• Zymogen