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

Gene ID: 2165, updated on 1-Jun-2020

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
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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (197038741..197067264, 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 assembly factor for spindle microtubules 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Factor XIII, b subunit, deficiency of
MedGen: C2750481 OMIM: 613235 GeneReviews: Not available
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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 PubChem

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
 
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_001994.3NP_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, ENST00000367412.1
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    197038741..197067264 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
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