F13A1
entrez
2162
canonical
uniprot
P00488
canonical
ensembl
ENSG00000124491
resolver
ensp
ENSP00000264870
resolver
ensp
ENSP00000621006
resolver
enst
ENST00000264870
resolver
enst
ENST00000950947
resolver
genesymbol
F13A1
resolver
genesymbol_syn
F13A
resolver
hgnc
HGNC:3531
resolver
uniprot
Q59HA7
resolver
uniprot
Q8N6X2
resolver
uniprot
Q96P24
resolver
uniprot
Q9BX29
resolver
uniprot_entry
F13A_HUMAN
resolver
uniprot_sec
Q59HA7
resolver
uniprot_sec
Q8N6X2
resolver
uniprot_sec
Q96P24
resolver
uniprot_sec
Q9BX29
resolver
amino_acid_sequence
MSETSRTAFGGRRAVPPNNSNAAEDDLPTVELQGVVPRGVNLQEFLNVTSVHLFKERWDTNKVDHHTDKYENNKLIVRRGQSFYVQIDFSRPYDPRRDLFRVEYVIGRYPQENKGTYIPVPIVSELQSGKWGAKIVMREDRSVRLSIQSSPKCIVGKFRMYVAVWTPYGVLRTSRNPETDTYILFNPWCEDDAVYLDNEKEREEYVLNDIGVIFYGEVNDIKTRSWSYGQFEDGILDTCLYVMDRAQMDLSGRGNPIKVSRVGSAMVNAKDDEGVLVGSWDNIYAYGVPPSAWTGSVDILLEYRSSENPVRYGQCWVFAGVFNTFLRCLGIPARIVTNYFSAHDNDANLQMDIFLEEDGNVNSKLTKDSVWNYHCWNEAWMTRPDLPVGFGGWQAVDSTPQENSDGMYRCGPASVQAIKHGHVCFQFDAPFVFAEVNSDLIYITAKKDGTHVVENVDATHIGKLIVTKQIGGDGMMDITDTYKFQEGQEEERLALETALMYGAKKPLNTEGVMKSRSNVDMDFEVENAVLGKDFKLSITFRNNSHNRYTITAYLSANITFYTGVPKAEFKKETFDVTLEPLSFKKEAVLIQAGEYMGQLLEQASLHFFVTARINETRDVLAKQKSTVLTIPEIIIKVRGTQVVGSDMTVTVEFTNPLKETLRNVWVHLDGPGVTRPMKKMFREIRPNSTVQWEEVCRPWVSGHRKLIASMSSDSLRHVYGELDVQIQRRPSM
uniprot
proteins
disease_involvement
DISEASE: Factor XIII subunit A deficiency (FA13AD) [MIM:613225]: An autosomal recessive hematologic disorder characterized by a life-long bleeding tendency, impaired wound healing and spontaneous abortion in affected women. {ECO:0000269|PubMed:1353995, ECO:0000269|PubMed:20179087, ECO:0000269|PubMed:24286209, ECO:0000269|PubMed:24329762, ECO:0000269|PubMed:24889649, ECO:0000269|PubMed:27363989}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.2.13
uniprot
proteins
function
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 inhibitor, or fibronectin, to the alpha chains of fibrin. {ECO:0000269|PubMed:27363989}.
uniprot
proteins
mass_dalton
83268
uniprot
proteins
post_translational_modification
PTM: The activation peptide is released by thrombin.
uniprot
proteins
protein_family
Transglutaminase family
uniprot
proteins
protein_family
Transglutaminase superfamily
uniprot
proteins
pubmed
10391209
uniprot
proteins
pubmed
1353995
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
20179087
uniprot
proteins
pubmed
21742792
uniprot
proteins
pubmed
24286209
uniprot
proteins
pubmed
24329762
uniprot
proteins
pubmed
24889649
uniprot
proteins
pubmed
26247044
uniprot
proteins
pubmed
27363989
uniprot
proteins
pubmed
2877456
uniprot
proteins
pubmed
2877457
uniprot
proteins
pubmed
2901091
uniprot
proteins
pubmed
3026437
uniprot
proteins
pubmed
4405643
uniprot
proteins
pubmed
4811064
uniprot
proteins
pubmed
7660355
uniprot
proteins
pubmed
7913750
uniprot
proteins
pubmed
7913909
uniprot
proteins
pubmed
9515726
uniprot
proteins
pubmed
9763561
uniprot
proteins
pubmed
9988734
uniprot
proteins
sequence_length
732
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Secreted {ECO:0000269|PubMed:4405643}. Note=Secreted into the blood plasma. Cytoplasmic in most tissues, but also secreted in the blood plasma.
uniprot
proteins