LOCUS       NM_001994               2660 bp    mRNA    linear   PRI 14-FEB-2024
DEFINITION  Homo sapiens coagulation factor XIII B chain (F13B), mRNA.
ACCESSION   NM_001994
VERSION     NM_001994.3
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 2660)
  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   2  (bases 1 to 2660)
  AUTHORS   Memtsas,V.P., Arachchillage,D.R.J. and Gorog,D.A.
  TITLE     Role, Laboratory Assessment and Clinical Relevance of Fibrin,
            Factor XIII and Endogenous Fibrinolysis in Arterial and Venous
            Thrombosis
  JOURNAL   Int J Mol Sci 22 (3), 1472 (2021)
   PUBMED   33540604
  REMARK    GeneRIF: Role, Laboratory Assessment and Clinical Relevance of
            Fibrin, Factor XIII and Endogenous Fibrinolysis in Arterial and
            Venous Thrombosis.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2660)
  AUTHORS   Akhter,M.S., Singh,S., Yadegari,H., Ivaskevicius,V., Oldenburg,J.
            and Biswas,A.
  TITLE     Exploring the structural similarity yet functional distinction
            between coagulation factor XIII-B and complement factor H sushi
            domains
  JOURNAL   J Thromb Thrombolysis 48 (1), 95-102 (2019)
   PUBMED   30915671
  REMARK    GeneRIF: investigations show no effect of FXIII-B subunit on the
            rate of complement activation
REFERENCE   4  (bases 1 to 2660)
  AUTHORS   Balogh,L., Katona,E., Mezei,Z.A., Kallai,J., Gindele,R., Edes,I.,
            Muszbek,L., Papp,Z. and Bereczky,Z.
  TITLE     Effect of factor XIII levels and polymorphisms on the risk of
            myocardial infarction in young patients
  JOURNAL   Mol Cell Biochem 448 (1-2), 199-209 (2018)
   PUBMED   29484525
  REMARK    GeneRIF: Effect of factor XIII levels and polymorphisms on the risk
            of myocardial infarction in young patients
REFERENCE   5  (bases 1 to 2660)
  AUTHORS   Mezei,Z.A., Katona,E., Kallai,J., Bereczky,Z., Somodi,L.,
            Molnar,E., Kovacs,B., Miklos,T., Ajzner,E. and Muszbek,L.
  TITLE     Factor XIII levels and factor XIII B subunit polymorphisms in
            patients with venous thromboembolism
  JOURNAL   Thromb Res 158, 93-97 (2017)
   PUBMED   28865246
  REMARK    GeneRIF: In VTE patients the changes of FXIII level and their
            effect on the risk of VTE show considerable sex-specific
            differences. Intron K polymorphism results in decreased FXIII
            levels, but does not influence the risk of VTE.
REFERENCE   6  (bases 1 to 2660)
  AUTHORS   Murdock,P.J., Owens,D.L., Chitolie,A., Hutton,R.A. and Lee,C.A.
  TITLE     Development and evaluation of ELISAs for factor XIIIA and XIIIB
            subunits in plasma
  JOURNAL   Thromb Res 67 (1), 73-79 (1992)
   PUBMED   1359667
REFERENCE   7  (bases 1 to 2660)
  AUTHORS   Nishimura,D.Y., Leysens,N.J. and Murray,J.C.
  TITLE     A dinucleotide repeat for the D1S53 locus
  JOURNAL   Nucleic Acids Res 20 (5), 1167 (1992)
   PUBMED   1549502
REFERENCE   8  (bases 1 to 2660)
  AUTHORS   Bottenus,R.E., Ichinose,A. and Davie,E.W.
  TITLE     Nucleotide sequence of the gene for the b subunit of human factor
            XIII
  JOURNAL   Biochemistry 29 (51), 11195-11209 (1990)
   PUBMED   2271707
REFERENCE   9  (bases 1 to 2660)
  AUTHORS   Grundmann,U., Nerlich,C., Rein,T. and Zettlmeissl,G.
  TITLE     Complete cDNA sequence encoding the B subunit of human factor XIII
  JOURNAL   Nucleic Acids Res 18 (9), 2817-2818 (1990)
   PUBMED   2339067
REFERENCE   10 (bases 1 to 2660)
  AUTHORS   Saito,M., Asakura,H., Yoshida,T., Ito,K., Okafuji,K., Yoshida,T.
            and Matsuda,T.
  TITLE     A familial factor XIII subunit B deficiency
  JOURNAL   Br J Haematol 74 (3), 290-294 (1990)
   PUBMED   2334637
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX510295.1, AK290560.1,
            AL353809.20, M14057.1 and CB157213.1.
            
            On Sep 27, 2019 this sequence version replaced NM_001994.2.
            
            Summary: This gene encodes coagulation factor XIII B 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 a plasma carrier molecules.
            Platelet factor XIII is comprised only of 2 A subunits, which are
            identical to those of plasma origin. Upon activation by the
            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. 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].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AK290560.1, M14057.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367412.2/ ENSP00000356382.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-380               BX510295.1         9-388
            381-492             AK290560.1         385-496
            493-493             AL353809.20        70399-70399         c
            494-1842            M14057.1           455-1803
            1843-2111           AK290560.1         1847-2115
            2112-2210           CB157213.1         10-108              c
            2211-2660           AL353809.20        48069-48518         c
FEATURES             Location/Qualifiers
     source          1..2660
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q31.3"
     gene            1..2660
                     /gene="F13B"
                     /gene_synonym="FXIIIB"
                     /note="coagulation factor XIII B chain"
                     /db_xref="GeneID:2165"
                     /db_xref="HGNC:HGNC:3534"
                     /db_xref="MIM:134580"
     exon            1..101
                     /gene="F13B"
                     /gene_synonym="FXIIIB"
                     /inference="alignment:Splign:2.1.0"
     CDS             38..2023
                     /gene="F13B"
                     /gene_synonym="FXIIIB"
                     /EC_number="2.3.2.13"
                     /note="TGase; transglutaminase B chain; fibrin-stabilizing
                     factor B subunit; protein-glutamine
                     gamma-glutamyltransferase B chain; coagulation factor
                     XIII, B polypeptide"
                     /codon_start=1
                     /product="coagulation factor XIII B chain precursor"
                     /protein_id="NP_001985.2"
                     /db_xref="CCDS:CCDS1388.1"
                     /db_xref="GeneID:2165"
                     /db_xref="HGNC:HGNC:3534"
                     /db_xref="MIM:134580"
                     /translation="MRLKNLTFIIILIISGELYAEEKPCGFPHVENGRIAQYYYTFKS
                     FYFPMSIDKKLSFFCLAGYTTESGRQEEQTTCTTEGWSPEPRCFKKCTKPDLSNGYIS
                     DVKLLYKIQENMRYGCASGYKTTGGKDEEVVQCLSDGWSSQPTCRKEHETCLAPELYN
                     GNYSTTQKTFKVKDKVQYECATGYYTAGGKKTEEVECLTYGWSLTPKCTKLKCSSLRL
                     IENGYFHPVKQTYEEGDVVQFFCHENYYLSGSDLIQCYNFGWYPESPVCEGRRNRCPP
                     PPLPINSKIQTHSTTYRHGEIVHIECELNFEIHGSAEIRCEDGKWTEPPKCIEGQEKV
                     ACEEPPFIENGAANLHSKIYYNGDKVTYACKSGYLLHGSNEITCNRGKWTLPPECVEN
                     NENCKHPPVVMNGAVADGILASYATGSSVEYRCNEYYLLRGSKISRCEQGKWSSPPVC
                     LEPCTVNVDYMNRNNIEMKWKYEGKVLHGDLIDFVCKQGYDLSPLTPLSELSVQCNRG
                     EVKYPLCTRKESKGMCTSPPLIKHGVIISSTVDTYENGSSVEYRCFDHHFLEGSREAY
                     CLDGMWTTPPLCLEPCTLSFTEMEKNNLLLKWDFDNRPHILHGEYIEFICRGDTYPAE
                     LYITGSILRMQCDRGQLKYPRCIPRQSTLSYQEPLRT"
     exon            102..302
                     /gene="F13B"
                     /gene_synonym="FXIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            303..488
                     /gene="F13B"
                     /gene_synonym="FXIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            489..665
                     /gene="F13B"
                     /gene_synonym="FXIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            666..842
                     /gene="F13B"
                     /gene_synonym="FXIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            843..1022
                     /gene="F13B"
                     /gene_synonym="FXIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            1023..1208
                     /gene="F13B"
                     /gene_synonym="FXIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            1209..1391
                     /gene="F13B"
                     /gene_synonym="FXIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            1392..1592
                     /gene="F13B"
                     /gene_synonym="FXIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            1593..1775
                     /gene="F13B"
                     /gene_synonym="FXIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            1776..1989
                     /gene="F13B"
                     /gene_synonym="FXIIIB"
                     /inference="alignment:Splign:2.1.0"
     exon            1990..2660
                     /gene="F13B"
                     /gene_synonym="FXIIIB"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2186..2191
                     /regulatory_class="polyA_signal_sequence"
                     /gene="F13B"
                     /gene_synonym="FXIIIB"
                     /note="hexamer: AATAAA"
     polyA_site      2214
                     /gene="F13B"
                     /gene_synonym="FXIIIB"
     regulatory      2640..2645
                     /regulatory_class="polyA_signal_sequence"
                     /gene="F13B"
                     /gene_synonym="FXIIIB"
                     /note="hexamer: AAGAAA"
     polyA_site      2660
                     /gene="F13B"
                     /gene_synonym="FXIIIB"
                     /note="major polyA site"
ORIGIN      
        1 agaattgtta aaatctttgt gaagcacacc actgaagatg aggttgaaaa acctgacttt
       61 tatcatcata ttgataatct caggagaact ctatgcagaa gagaaaccct gtggttttcc
      121 tcatgtggaa aatggaagaa ttgcccaata ttactatact tttaaaagct tttactttcc
      181 aatgagcata gacaaaaaat tgtcattttt ctgcttggct ggttatacca ctgaaagtgg
      241 aagacaagaa gagcaaacca cgtgtacaac agaaggctgg tctccagagc caaggtgctt
      301 caaaaaatgc actaagcctg acctgagtaa tggttacatc tctgatgtaa agttattgta
      361 taaaattcaa gagaacatgc gttatggttg cgcttcaggg tacaaaacca ctggagggaa
      421 ggatgaagaa gtggttcaat gtctctctga tggatggtct tctcaaccaa cctgtaggaa
      481 agaacatgaa acatgtttgg ctcctgaatt atataatgga aattattcca caacacagaa
      541 aacattcaaa gtgaaggaca aagtacaata cgaatgtgct actggctact acacagctgg
      601 aggaaagaag acagaggagg tagaatgtct cacatacgga tggtctctca caccaaaatg
      661 taccaaatta aagtgctctt ctttaagatt aattgaaaat ggttattttc atcctgtaaa
      721 gcaaacctat gaagaaggag atgtcgttca gtttttctgt catgaaaatt attatctaag
      781 tggatctgat ttaattcaat gctataactt tggttggtac ccagaatctc ctgtatgcga
      841 aggaagaaga aacagatgtc ctcctccacc tctgcccata aactccaaaa ttcaaacaca
      901 ttcaacaact tatcgtcatg gagaaatagt tcatatagaa tgtgaactta attttgagat
      961 ccatgggtca gcagaaatac gttgtgaaga tggaaaatgg acagaacctc caaaatgcat
     1021 tgaaggacag gagaaggtag cctgtgagga accacccttc attgaaaatg gtgcagcaaa
     1081 tttacactct aagatttatt acaatgggga taaagtgaca tatgcatgta aaagcggcta
     1141 ccttctccat ggatcgaatg agataacttg taatcgtgga aaatggacac ttcctcctga
     1201 gtgtgttgaa aataatgaga attgtaagca tcctcctgtt gtaatgaatg gggctgttgc
     1261 agacgggata ttggcaagct atgcaacagg atcctcagtg gaatatagat gcaatgaata
     1321 ttacttactg aggggatcaa aaatatctcg ttgcgaacaa ggaaaatggt catccccacc
     1381 tgtttgcttg gaaccatgta ctgttaatgt ggattacatg aacagaaata acatagaaat
     1441 gaagtggaaa tatgaaggga aagtcttaca tggagattta atagattttg tatgtaaaca
     1501 gggatatgac ttatctccat taaccccatt gtctgaatta tctgtgcagt gcaacagagg
     1561 agaagtgaaa tatcctttat gtactagaaa agaatctaaa ggaatgtgca catctcctcc
     1621 tcttattaaa catggagtca ttattagttc aacagtagac acctatgaaa atggctcttc
     1681 agtagaatac agatgttttg atcaccattt cctagaagga tctagggagg cctattgttt
     1741 agatggaatg tggactacac caccattgtg tttagagcca tgcacattat cttttactga
     1801 aatggaaaag aataatttac ttctgaaatg ggattttgac aatagaccac acattttgca
     1861 tggtgaatat attgagttta tttgtagagg agatacttat ccagctgaat tatatattac
     1921 tggatctata cttagaatgc aatgtgacag agggcagtta aaatatccaa gatgtattcc
     1981 aagacaaagc actctgtctt atcaagaacc cttaagaaca tagaaatgaa tggcagaaag
     2041 aggagtcata tttcaataca tcatgaaatt ccttataaaa tataattttg aggaaataag
     2101 ttaaaaactt cggagttttt ccttgcttaa atatttgaat ctaaattatt tgtgctgaac
     2161 atttcgttat ttataaatga aaaccaataa atgtctaatt tttagtttgt atgatttgat
     2221 gtagaactta atctcttttg tatgtcttcc atctgttaca aattaatcta cacatcatat
     2281 tttcatttcc taatgcccat tgactagact atatagttgt tttcaatata ctgtatgtgc
     2341 aaaaatttca cattcacatt cgtcatcatc tttattaata ttaaggcttt tgttaccctt
     2401 aattcaaagt ttatgtcact attaaagggc caaacacact agagataaga aactatatgc
     2461 tgtattagag gatctgcctt attaaaggca gaagagactg cccttcagac tttctaaatg
     2521 taaaaaactt ttaaaattaa ctgtaatatt tgctacaacg ttaataacca aattgtttat
     2581 gaggtggtgt actaccatat ttgaacatgt gctcaaatat tgttaaagag acacaattaa
     2641 agaaagaatg acccttggaa
//
