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FLASH GENE

Symbol

F13A1

contributors: mct - updated : 02-11-2010

HGNC name	coagulation factor XIII, A1 polypeptide
HGNC id	3531

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	176.61 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000129 15 - 3863 NP_000120 - 732 - 1998 9827915

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       moderately Lymphoid/Immune thymus       highly Reproductive female system placenta     predominantly Visual eye       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic         Connective bone

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic megakaryocyte Blood/Hematopoietic monocyte Blood/Hematopoietic platelet Lymphoid/Immune macrophage Skeleton osteoblast

cell lineage
cell lines
fluid/secretion	plasma

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

Other

mono polymer

homomer , heteromer , dimer , tetramer

isoforms

Precursor

HOMOLOGY

interspecies	ortholog to murine F13a1
	ortholog to rattus F13a

Homologene

FAMILY

transglutaminase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,cytosolic
text	present in the cytosol of platelets, megakaryocytes, monocytes, osteoblasts, and macrophages

basic FUNCTION	coagulation factor XIII, A1 polypeptide, catalytic subunit
	plasma transglutaminase
	catalyzing the formation of glutamyl-lysine bonds between fibrin monomers
	cross-linking alpha-2 plasmin inhibitor or fibronectin to the alpha chains of fibrin

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

coagulation/hemostasis

PATHWAY

metabolism

signaling

a component	heterotetramer with two A and two B subunits
	acetylated

INTERACTION

DNA

RNA

small molecule	metal binding, cofactor,
	Ca2+ (one ion per subunit)

protein

cell & other

REGULATION

activated by	thrombin
	Ca2+ dependent to dissociation of B subunit

ASSOCIATED DISORDERS

corresponding disease(s)

F13A1

Susceptibility

to cleft lip without cleft palate to primary intracerebral hemorrhage but protection against cerebral and myocardial infarction to recurrent pregnancy loss

Variant & Polymorphism SNP , other	V34L increased risk for intracerebral hemorrhage
	correlation found between F13A1 A614T and C1694T polymorphisms in recurrent pregnancy loss

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS