LOCUS       NM_000129               3828 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens coagulation factor XIII A chain (F13A1), mRNA.
ACCESSION   NM_000129
VERSION     NM_000129.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3828)
  AUTHORS   Nadakuditi,N.K., Peters,E.F., Subramanian,S. and Prakash,A.
  TITLE     Clinical Profile of Congenital Factor XIII Deficiency in Children
  JOURNAL   Indian J Pediatr 91 (3), 223-228 (2024)
   PUBMED   37314674
  REMARK    GeneRIF: Clinical Profile of Congenital Factor XIII Deficiency in
            Children.
REFERENCE   2  (bases 1 to 3828)
  AUTHORS   Byrnes,J.R., Lee,T., Sharaby,S., Campbell,R.A., Dobson,D.A.,
            Holle,L.A., Luo,M., Kangro,K., Homeister,J.W., Aleman,M.M.,
            Luyendyk,J.P., Kerlin,B.A., Dumond,J.B. and Wolberg,A.S.
  TITLE     Reciprocal stabilization of coagulation factor XIII-A and -B
            subunits is a determinant of plasma FXIII concentration
  JOURNAL   Blood 143 (5), 444-455 (2024)
   PUBMED   37883802
  REMARK    GeneRIF: Reciprocal stabilization of coagulation factor XIII-A and
            -B subunits is a determinant of plasma FXIII concentration.
REFERENCE   3  (bases 1 to 3828)
  AUTHORS   Choudhari,S., Kulkarni,D., Patankar,S., Kheur,S. and Sarode,S.
  TITLE     Linking inflammation and angiogenesis with fibrogenesis: Expression
            of FXIIIA, MMP-9, and VEGF in oral submucous fibrosis
  JOURNAL   Rev Esp Patol 57 (1), 15-26 (2024)
   PUBMED   38246706
  REMARK    GeneRIF: Linking inflammation and angiogenesis with fibrogenesis:
            Expression of FXIIIA, MMP-9, and VEGF in oral submucous fibrosis.
REFERENCE   4  (bases 1 to 3828)
  AUTHORS   Bazzan,E., Casara,A., Radu,C.M., Tine,M., Biondini,D., Faccioli,E.,
            Pezzuto,F., Bernardinello,N., Conti,M., Balestro,E., Calabrese,F.,
            Simioni,P., Rea,F., Turato,G., Spagnolo,P., Cosio,M.G. and
            Saetta,M.
  TITLE     Macrophages-derived Factor XIII links coagulation to inflammation
            in COPD
  JOURNAL   Front Immunol 14, 1131292 (2023)
   PUBMED   37180121
  REMARK    GeneRIF: Macrophages-derived Factor XIII links coagulation to
            inflammation in COPD.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3828)
  AUTHORS   Cheng,Y.L., Ding,Z.X., Cao,L.J., Han,J.J., Su,J., Gao,G.Y.,
            Yu,Z.Q., Bai,X., Wang,Z.Y. and Ruan,C.G.
  TITLE     [Gene diagnosis of a family with coagulation factor deficiency
            caused by large deletion of F13A1 gene]
  JOURNAL   Zhonghua Xue Ye Xue Za Zhi 44 (1), 62-65 (2023)
   PUBMED   36987725
  REMARK    GeneRIF: [Gene diagnosis of a family with coagulation factor
            deficiency caused by large deletion of F13A1 gene].
REFERENCE   6  (bases 1 to 3828)
  AUTHORS   Board,P., Coggan,M. and Miloszewski,K.
  TITLE     Identification of a point mutation in factor XIII A subunit
            deficiency
  JOURNAL   Blood 80 (4), 937-941 (1992)
   PUBMED   1353995
REFERENCE   7  (bases 1 to 3828)
  AUTHORS   Kamura,T., Okamura,T., Murakawa,M., Tsuda,H., Teshima,T.,
            Shibuya,T., Harada,M. and Niho,Y.
  TITLE     Deficiency of coagulation factor XIII A subunit caused by the
            dinucleotide deletion at the 5' end of exon III
  JOURNAL   J Clin Invest 90 (2), 315-319 (1992)
   PUBMED   1644910
REFERENCE   8  (bases 1 to 3828)
  AUTHORS   Harsfalvi,J., Fesus,L., Tarcsa,E., Laczko,J. and Loewy,A.G.
  TITLE     The presence of a covalently cross-linked matrix in human platelets
  JOURNAL   Biochim Biophys Acta 1073 (2), 268-274 (1991)
   PUBMED   2009280
REFERENCE   9  (bases 1 to 3828)
  AUTHORS   Hilgenfeld,R., Liesum,A., Storm,R., Metzner,H.J. and Karges,H.E.
  TITLE     Crystallization of blood coagulation factor XIII by an automated
            procedure
  JOURNAL   FEBS Lett 265 (1-2), 110-112 (1990)
   PUBMED   2365049
REFERENCE   10 (bases 1 to 3828)
  AUTHORS   Bishop,P.D., Teller,D.C., Smith,R.A., Lasser,G.W., Gilbert,T. and
            Seale,R.L.
  TITLE     Expression, purification, and characterization of human factor XIII
            in Saccharomyces cerevisiae
  JOURNAL   Biochemistry 29 (7), 1861-1869 (1990)
   PUBMED   2184890
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP251770.1, AB208852.1 and
            AL157775.15.
            
            On Aug 31, 2019 this sequence version replaced NM_000129.3.
            
            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 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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC027963.1, AK312735.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264870.8/ ENSP00000264870.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-554               BP251770.1         30-583
            555-2418            AB208852.1         536-2399
            2419-3828           AL157775.15        101913-103322       c
FEATURES             Location/Qualifiers
     source          1..3828
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p25.1"
     gene            1..3828
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /note="coagulation factor XIII A chain"
                     /db_xref="GeneID:2162"
                     /db_xref="HGNC:HGNC:3531"
                     /db_xref="MIM:134570"
     exon            1..76
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /inference="alignment:Splign:2.1.0"
     exon            77..224
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /inference="alignment:Splign:2.1.0"
     CDS             95..2293
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /EC_number="2.3.2.13"
                     /note="TGase; fibrin stabilizing factor, A subunit; FSF, A
                     subunit; fibrinoligase; transglutaminase. plasma;
                     protein-glutamine gamma-glutamyltransferase A chain;
                     coagulation factor XIII, A polypeptide; factor XIIIa;
                     bA525O21.1 (coagulation factor XIII, A1 polypeptide);
                     coagulation factor XIIIa; transglutaminase A chain"
                     /codon_start=1
                     /product="coagulation factor XIII A chain"
                     /protein_id="NP_000120.2"
                     /db_xref="CCDS:CCDS4496.1"
                     /db_xref="GeneID:2162"
                     /db_xref="HGNC:HGNC:3531"
                     /db_xref="MIM:134570"
                     /translation="MSETSRTAFGGRRAVPPNNSNAAEDDLPTVELQGVVPRGVNLQE
                     FLNVTSVHLFKERWDTNKVDHHTDKYENNKLIVRRGQSFYVQIDFSRPYDPRRDLFRV
                     EYVIGRYPQENKGTYIPVPIVSELQSGKWGAKIVMREDRSVRLSIQSSPKCIVGKFRM
                     YVAVWTPYGVLRTSRNPETDTYILFNPWCEDDAVYLDNEKEREEYVLNDIGVIFYGEV
                     NDIKTRSWSYGQFEDGILDTCLYVMDRAQMDLSGRGNPIKVSRVGSAMVNAKDDEGVL
                     VGSWDNIYAYGVPPSAWTGSVDILLEYRSSENPVRYGQCWVFAGVFNTFLRCLGIPAR
                     IVTNYFSAHDNDANLQMDIFLEEDGNVNSKLTKDSVWNYHCWNEAWMTRPDLPVGFGG
                     WQAVDSTPQENSDGMYRCGPASVQAIKHGHVCFQFDAPFVFAEVNSDLIYITAKKDGT
                     HVVENVDATHIGKLIVTKQIGGDGMMDITDTYKFQEGQEEERLALETALMYGAKKPLN
                     TEGVMKSRSNVDMDFEVENAVLGKDFKLSITFRNNSHNRYTITAYLSANITFYTGVPK
                     AEFKKETFDVTLEPLSFKKEAVLIQAGEYMGQLLEQASLHFFVTARINETRDVLAKQK
                     STVLTIPEIIIKVRGTQVVGSDMTVTVEFTNPLKETLRNVWVHLDGPGVTRPMKKMFR
                     EIRPNSTVQWEEVCRPWVSGHRKLIASMSSDSLRHVYGELDVQIQRRPSM"
     exon            225..413
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /inference="alignment:Splign:2.1.0"
     exon            414..665
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /inference="alignment:Splign:2.1.0"
     exon            666..784
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /inference="alignment:Splign:2.1.0"
     exon            785..892
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /inference="alignment:Splign:2.1.0"
     exon            893..1067
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /inference="alignment:Splign:2.1.0"
     exon            1068..1206
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /inference="alignment:Splign:2.1.0"
     exon            1207..1310
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /inference="alignment:Splign:2.1.0"
     exon            1311..1399
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /inference="alignment:Splign:2.1.0"
     exon            1400..1553
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /inference="alignment:Splign:2.1.0"
     exon            1554..1841
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /inference="alignment:Splign:2.1.0"
     exon            1842..2002
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /inference="alignment:Splign:2.1.0"
     exon            2003..2139
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /inference="alignment:Splign:2.1.0"
     exon            2140..3828
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3808..3813
                     /regulatory_class="polyA_signal_sequence"
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /note="hexamer: AATAAA"
     polyA_site      3828
                     /gene="F13A1"
                     /gene_synonym="F13A"
                     /note="major polyA site"
ORIGIN      
        1 gagtccgttt gaggaagtcc ccgaggcgca cagagcaagc ccacgcgagg gcacctctgg
       61 aggggagcgc ctgcaggacc ttgtaaagtc aaaaatgtca gaaacttcca ggaccgcctt
      121 tggaggcaga agagcagttc cacccaataa ctctaatgca gcggaagatg acctgcccac
      181 agtggagctt cagggcgtgg tgccccgggg cgtcaacctg caagagtttc ttaatgtcac
      241 gagcgttcac ctgttcaagg agagatggga cactaacaag gtggaccacc acactgacaa
      301 gtatgaaaac aacaagctga ttgtccgcag agggcagtct ttctatgtgc agattgactt
      361 cagtcgtcca tatgacccca gaagggatct cttcagggtg gaatacgtca ttggtcgcta
      421 cccacaggag aacaagggaa cctacatccc agtgcctata gtctcagagt tacaaagtgg
      481 aaagtggggg gccaagattg tcatgagaga ggacaggtct gtgcggctgt ccatccagtc
      541 ttcccccaaa tgtattgtgg ggaaattccg catgtatgtt gctgtctgga ctccctatgg
      601 cgtacttcga accagtcgaa acccagaaac agacacgtac attctcttca atccttggtg
      661 tgaagatgat gctgtgtatc tggacaatga gaaagaaaga gaagagtatg tcctgaatga
      721 catcggggta attttttatg gagaggtcaa tgacatcaag accagaagct ggagctatgg
      781 tcagtttgaa gatggcatcc tggacacttg cctgtatgtg atggacagag cacaaatgga
      841 cctctctgga agagggaatc ccatcaaagt cagccgtgtg gggtctgcaa tggtgaatgc
      901 caaagatgac gaaggtgtcc tcgttggatc ctgggacaat atctatgcct atggcgtccc
      961 cccatcggcc tggactggaa gcgttgacat tctattggaa taccggagct ctgagaatcc
     1021 agtccggtat ggccaatgct gggtttttgc tggtgtcttt aacacatttt tacgatgcct
     1081 tggaatacca gcaagaattg ttaccaatta tttctctgcc catgataatg atgccaattt
     1141 gcaaatggac atcttcctgg aagaagatgg gaacgtgaat tccaaactca ccaaggattc
     1201 agtgtggaac taccactgct ggaatgaagc atggatgaca aggcctgacc ttcctgttgg
     1261 atttggaggc tggcaagctg tggacagcac cccccaggaa aatagcgatg gcatgtatcg
     1321 gtgtggcccc gcctcggttc aagccatcaa gcacggccat gtctgcttcc aatttgatgc
     1381 accttttgtt tttgcagagg tcaacagcga cctcatttac attacagcta agaaagatgg
     1441 cactcatgtg gtggaaaatg tggatgccac ccacattggg aaattaattg tgaccaaaca
     1501 aattggagga gatggcatga tggatattac tgatacttac aaattccaag aaggtcaaga
     1561 agaagagaga ttggccctag aaactgccct gatgtacgga gctaaaaagc ccctcaacac
     1621 agaaggtgtc atgaaatcaa ggtccaacgt tgacatggac tttgaagtgg aaaatgctgt
     1681 gctgggaaaa gacttcaagc tctccatcac cttccggaac aacagccaca accgttacac
     1741 catcacagct tatctctcag ccaacatcac cttctacacc ggggtcccga aggcagaatt
     1801 caagaaggag acgttcgacg tgacgctgga gcccttgtcc ttcaagaaag aggcggtgct
     1861 gatccaagcc ggcgagtaca tgggtcagct gctggaacaa gcgtccctgc acttctttgt
     1921 cacagctcgc atcaatgaga ccagggatgt tctggccaag caaaagtcca ccgtgctaac
     1981 catccctgag atcatcatca aggtccgtgg cactcaggta gttggttctg acatgactgt
     2041 gacagttgag tttaccaatc ctttaaaaga aaccctgcga aatgtctggg tacacctgga
     2101 tggtcctgga gtaacaagac caatgaagaa gatgttccgt gaaatccggc ccaactccac
     2161 cgtgcagtgg gaagaagtgt gccggccctg ggtctctggg catcggaagc tgatagccag
     2221 catgagcagt gactccctga gacatgtgta tggcgagctg gacgtgcaga ttcaaagacg
     2281 accttccatg tgaatgcaca ggaagctgag atgaaccctg gcatttggcc tcttgtagtc
     2341 ttggctaagg aaattctaac gcaaaaatag ctcttgcttt gacttaggtg tgaagaccca
     2401 gacaggactg cagagggctc cagagtggag atcccacata tttcaaaaac atgcttttcc
     2461 aaacccaggc tattcggcaa ggaagttagt ttttaatctc tccaccttcc aaagagtgct
     2521 aagcattagc tttaattaag ctctcatagc tcataagagt aacagtcatc atttatcatc
     2581 acaaatggct acatctccaa atatcagtgg gctctcttac cagggagatt tgctcaatac
     2641 ctggcctcat ttaaaacaag acttcagatt ccccactcag ccttttggga ataatagcac
     2701 atgatttggg ctctagaatt ccagtcccct ttctcggggt caggttctac cctccatgtg
     2761 agaatatttt tcccaggact agagcacaac ataattttta tttttggcaa agccagaaaa
     2821 agatctttca ttttgcacct gcagccaagc aaatgcctgc caaattttag atttaccttg
     2881 ttagaagagg tggccccata ttaacaaatt gcatttgtgg gaaacttaac cacctacaag
     2941 gagataagaa agcaggtgca acactcaagt ctattgaata atgtagtttt gtgatgcatt
     3001 ttatagaatg tgtcacactg tggcctgatc agcaggagcc aatatccctt actttaaccc
     3061 tttctgggat gcaatactag gaagtaaagt gaagaattta tctctttagt tagtgattat
     3121 atttcaccca tctctcagga atcatctcct ttgcagaatg atgcaggttc aggtcccctt
     3181 tcagagatat aataagccca acaagttgaa gaagctggcg gatctagtga ccagatatat
     3241 agaaggactg cagccactga ttctctcttg tccttcacat cacccatgtt gagacctcag
     3301 cttggcactc aggtgctgaa gggtaatatg gactcagcct tgcaaatagc cagtgctagt
     3361 tctgacccaa ccacagagga tgctgacatc atttgtatta tgttccaagg ctactacaga
     3421 gaaggctgcc tgctatgtat ttgcaaggct gatttatggt cagaatttcc ctctgatatg
     3481 tctagggtgt gatttaggtc agtagactgt gattcttagc aaaaaatgaa cagtgataag
     3541 tatactgggg gcaaaatcag aatggaatgc tctggtctat ataaccacat ttctaagcct
     3601 ttgagactgt tcctgagcct tcagcactaa cctatgaggg tgagctggtc ccctctatat
     3661 atacatcata cttaacttta ctaagtaatc tcacagcatt tgccaagtct cccaatatcc
     3721 aattttaaaa tgaaatgcat tttgctagac agttaaactg gcttaactta gtatattatt
     3781 attaattaca atgtaataga agcttaaaat aaagttaaac tgattata
//
