Format

Send to:

Choose Destination
    • Showing Current items.

    F13B coagulation factor XIII B chain [ Homo sapiens (human) ]

    Gene ID: 2165, updated on 4-Nov-2018

    Summary

    Official Symbol
    F13Bprovided by HGNC
    Official Full Name
    coagulation factor XIII B chainprovided by HGNC
    Primary source
    HGNC:HGNC:3534
    See related
    Ensembl:ENSG00000143278 MIM:134580; Vega:OTTHUMG00000036519
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FXIIIB
    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]
    Expression
    Restricted expression toward liver (RPKM 37.1) See more
    Orthologs

    Genomic context

    See F13B in Genome Data Viewer
    Location:
    1q31.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (197038741..197067267, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (197007877..197036568, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene complement factor H related 2 Neighboring gene complement factor H related 5 Neighboring gene abnormal spindle microtubule assembly Neighboring gene septin 14 pseudogene 12 Neighboring gene zinc finger and BTB domain containing 41

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Factor XIII subunit B deficiency
    MedGen: C2750481 OMIM: 613235 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
    NHGRI GWA Catalog
    Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Blood Clotting Cascade, organism-specific biosystem (from WikiPathways)
      Blood Clotting Cascade, organism-specific biosystemCoagulation is a complex process by which blood forms clots. It is an important part of hemostasis (the cessation of blood loss from a damaged vessel), wherein a damaged blood vessel wall is covered ...
    • Common Pathway of Fibrin Clot Formation, organism-specific biosystem (from REACTOME)
      Common Pathway of Fibrin Clot Formation, organism-specific biosystemThe common pathway consists of the cascade of activation events leading from the formation of activated factor X to the formation of active thrombin, the cleavage of fibrinogen by thrombin, and the f...
    • Complement and Coagulation Cascades, organism-specific biosystem (from WikiPathways)
      Complement and Coagulation Cascades, organism-specific biosystemBlood coagulation is a series of coordinated and calcium-dependent proenzyme-to-serine protease conversions likely to be localized on the surfaces of activated cells in vivo. It culminates in the for...
    • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
      Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Complement and coagulation cascades, conserved biosystem (from KEGG)
      Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystem (from REACTOME)
      Formation of Fibrin Clot (Clotting Cascade), organism-specific biosystemThe formation of a fibrin clot at the site of an injury to the wall of a normal blood vessel is an essential part of the process to stop blood loss after vascular injury. The reactions that lead to ...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Steroid Biosynthesis, organism-specific biosystem (from WikiPathways)
      Steroid Biosynthesis, organism-specific biosystem
      Steroid Biosynthesis

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    blood coagulation, fibrin clot formation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cellular protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    coagulation factor XIII B chain
    Names
    TGase
    coagulation factor XIII, B polypeptide
    fibrin-stabilizing factor B subunit
    protein-glutamine gamma-glutamyltransferase B chain
    transglutaminase B chain
    NP_001985.2
    XP_011507585.1
    XP_011507586.1
    XP_011507588.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012065.1 RefSeqGene

      Range
      5001..33077
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_550

    mRNA and Protein(s)

    1. NM_001994.2NP_001985.2  coagulation factor XIII B chain precursor

      See identical proteins and their annotated locations for NP_001985.2

      Status: REVIEWED

      Source sequence(s)
      AK290560, AL353809, BX510295, CB157213, M14057
      Consensus CDS
      CCDS1388.1
      UniProtKB/Swiss-Prot
      P05160
      Related
      ENSP00000356382.1, OTTHUMP00000034674, ENST00000367412.1, OTTHUMT00000088821
      Conserved Domains (3) summary
      cd00033
      Location:274328
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:213267
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:274517
      PHA02927; secreted complement-binding protein; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      197038741..197067267 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509284.2XP_011507586.1  coagulation factor XIII B chain isoform X2

      Conserved Domains (3) summary
      cd00033
      Location:274328
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:213267
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:274516
      PHA02927; secreted complement-binding protein; Provisional
    2. XM_011509283.2XP_011507585.1  coagulation factor XIII B chain isoform X1

      Conserved Domains (3) summary
      cd00033
      Location:274328
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:213267
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:274517
      PHA02927; secreted complement-binding protein; Provisional
    3. XM_011509286.2XP_011507588.1  coagulation factor XIII B chain isoform X3

      Conserved Domains (3) summary
      cd00033
      Location:226280
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:165219
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:226469
      PHA02927; secreted complement-binding protein; Provisional
    Support Center