Details for: F13A1

Gene ID: 2162

Symbol: F13A1

Ensembl ID: ENSG00000124491

Description: coagulation factor XIII A chain

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 3.46
    Marker Score: 29224.5
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 3.04
    Marker Score: 3482
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 2.63
    Marker Score: 1791
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 2.38
    Marker Score: 1312
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 2.09
    Marker Score: 6006
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: 1.9
    Marker Score: 1525
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 1.79
    Marker Score: 4650
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.62
    Marker Score: 3293
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 1.62
    Marker Score: 406
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.49
    Marker Score: 2832
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 169053
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.42
    Marker Score: 14392
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 1.4
    Marker Score: 1340
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.09
    Marker Score: 61134
  • Cell Name: myelocyte (CL0002193)
    Fold Change: 1.09
    Marker Score: 470
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251792
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71811
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48035
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5338
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2735
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.9
    Marker Score: 919
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.89
    Marker Score: 5367
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5281
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.86
    Marker Score: 276
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.84
    Marker Score: 13151
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.78
    Marker Score: 947
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.78
    Marker Score: 594
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1256
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.77
    Marker Score: 857
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 703
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 390.5
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.74
    Marker Score: 1180
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.73
    Marker Score: 726
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.7
    Marker Score: 291
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 175
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.68
    Marker Score: 394.5
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.67
    Marker Score: 326
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 0.63
    Marker Score: 1566
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.62
    Marker Score: 718
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.62
    Marker Score: 7248
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.61
    Marker Score: 222
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.58
    Marker Score: 258
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.57
    Marker Score: 3488
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.57
    Marker Score: 1333
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.54
    Marker Score: 324
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.53
    Marker Score: 350
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.52
    Marker Score: 327
  • Cell Name: platelet (CL0000233)
    Fold Change: 0.51
    Marker Score: 232
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.51
    Marker Score: 1798.5
  • Cell Name: intermediate monocyte (CL0002393)
    Fold Change: 0.5
    Marker Score: 174
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 0.49
    Marker Score: 960
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.49
    Marker Score: 247.5
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.47
    Marker Score: 162.5
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.47
    Marker Score: 28826.5
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.47
    Marker Score: 1656
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 0.46
    Marker Score: 1896
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.42
    Marker Score: 199
  • Cell Name: reticular cell (CL0000432)
    Fold Change: 0.39
    Marker Score: 142
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 0.39
    Marker Score: 167
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.38
    Marker Score: 101
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.37
    Marker Score: 209
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.36
    Marker Score: 4051
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.35
    Marker Score: 243
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.35
    Marker Score: 230
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.34
    Marker Score: 152
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.34
    Marker Score: 422
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.33
    Marker Score: 449
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.33
    Marker Score: 406
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.32
    Marker Score: 101
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: 0.31
    Marker Score: 160
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.31
    Marker Score: 296
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.31
    Marker Score: 371
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.3
    Marker Score: 148
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: 0.3
    Marker Score: 130
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.3
    Marker Score: 149
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.3
    Marker Score: 385
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.29
    Marker Score: 102
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.29
    Marker Score: 288
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.28
    Marker Score: 231
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 0.28
    Marker Score: 215
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.28
    Marker Score: 149
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.28
    Marker Score: 154
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.27
    Marker Score: 85
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.27
    Marker Score: 5999
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.27
    Marker Score: 140
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.27
    Marker Score: 156
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.27
    Marker Score: 238
  • Cell Name: colon macrophage (CL0009038)
    Fold Change: 0.25
    Marker Score: 70
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 0.25
    Marker Score: 85
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.25
    Marker Score: 452
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.25
    Marker Score: 64
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.24
    Marker Score: 64
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 0.24
    Marker Score: 98
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.24
    Marker Score: 143
  • Cell Name: mature B cell (CL0000785)
    Fold Change: 0.23
    Marker Score: 172
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.23
    Marker Score: 133
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.22
    Marker Score: 121

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Other Information

## Summary F13A1 is a coagulation factor that plays a crucial role in blood coagulation. It is a protein found in the plasma and is involved in the formation of blood clots. F13A1 is encoded by the ENSG00000124491 gene. ## Key characteristics * F13A1 is a glycoprotein with a molecular weight of approximately 130 kDa. * It is produced by multiple isoforms, including F13A1a, F13A1b, and F13A1c. * F13A1 is a transmembrane protein that is expressed in various cell types. * It is a key factor in the clotting cascade and is involved in the formation of fibrin clots. ## Pathways and functions * F13A1 is involved in the blood coagulation cascade, a complex process that is responsible for stopping bleeding and maintaining blood vessel integrity. * It is a key regulator of hemostasis, the process of stopping bleeding. * F13A1 is also involved in inflammation and immune responses. * It is expressed in high levels in endothelial cells, where it is involved in the formation of new blood vessels and the maintenance of blood vessel integrity. * F13A1 is also expressed in immune cells, where it plays a role in the regulation of inflammation and immune responses. ## Clinical significance F13A1 gene mutations can lead to a genetic disorder called von Willebrand disease. This disease is characterized by abnormal blood clotting, which can lead to bleeding problems and other health complications. F13A1 is a promising target for the treatment of von Willebrand disease. Researchers are developing drugs that block F13A1 to prevent the formation of blood clots and reduce the risk of bleeding episodes.

Genular Protein ID: 4056828526

Symbol: F13A_HUMAN

Name: Coagulation factor XIII A chain

UniProtKB Accession Codes:

P00488 Q59HA7 Q8N6X2 Q96P24 Q9BX29

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 9 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 6 DrugCentral 1 EC 1 EMBL 22 EPD 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 11 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 20 PDBsum 13 PIR 1 PIRSF 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 3 RefSeq 1 Rhea 4 SAM 1 SMART 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3026437

Title: Amino acid sequence of the a subunit of human factor XIII.

PubMed ID: 3026437

DOI: 10.1021/bi00370a025

PubMed ID: 2877457

Title: Characterization of cDNA coding for human factor XIIIa.

PubMed ID: 2877457

DOI: 10.1073/pnas.83.21.8024

PubMed ID: 2901091

Title: Characterization of the gene for the a subunit of human factor XIII (plasma transglutaminase), a blood coagulation factor.

PubMed ID: 2901091

DOI: 10.1073/pnas.85.16.5829

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2877456

Title: Primary structure of blood coagulation factor XIIIa (fibrinoligase, transglutaminase) from human placenta.

PubMed ID: 2877456

DOI: 10.1073/pnas.83.21.8019

PubMed ID: 4811064

Title: Amino acid sequence studies on factor XIII and the peptide released during its activation by thrombin.

PubMed ID: 4811064

DOI: 10.1021/bi00701a018

PubMed ID: 4405643

Title: Human Factor XIII from plasma and platelets. Molecular weights, subunit structures, proteolytic activation, and cross-linking of fibrinogen and fibrin.

PubMed ID: 4405643

DOI: 10.1016/s0021-9258(19)44312-3

PubMed ID: 16335952

Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

PubMed ID: 16335952

DOI: 10.1021/pr0502065

PubMed ID: 21742792

Title: Factor XIII: a coagulation factor with multiple plasmatic and cellular functions.

PubMed ID: 21742792

DOI: 10.1152/physrev.00016.2010

PubMed ID: 26247044

Title: Structural and functional influences of coagulation factor XIII subunit B heterozygous missense mutants.

PubMed ID: 26247044

DOI: 10.1002/mgg3.138

PubMed ID: 7913750

Title: Three-dimensional structure of a transglutaminase: human blood coagulation factor XIII.

PubMed ID: 7913750

DOI: 10.1073/pnas.91.15.7296

PubMed ID: 7660355

Title: Structural evidence that the activation peptide is not released upon thrombin cleavage of factor XIII.

PubMed ID: 7660355

DOI: 10.1016/0049-3848(95)00072-y

PubMed ID: 9515726

Title: Two non-proline cis peptide bonds may be important for factor XIII function.

PubMed ID: 9515726

DOI: 10.1016/s0014-5793(98)00098-2

PubMed ID: 9988734

Title: Identification of the calcium binding site and a novel ytterbium site in blood coagulation factor XIII by X-ray crystallography.

PubMed ID: 9988734

DOI: 10.1074/jbc.274.8.4917

PubMed ID: 7913909

Title: Molecular basis for subtypic differences of the 'a' subunit of coagulation factor XIII with description of the genesis of the subtypes.

PubMed ID: 7913909

DOI: 10.1007/bf00202857

PubMed ID: 1353995

Title: Identification of a point mutation in factor XIII A subunit deficiency.

PubMed ID: 1353995

PubMed ID: 9763561

Title: The Val34Leu polymorphism in the A subunit of coagulation factor XIII contributes to the large normal range in activity and demonstrates that the activation peptide plays a role in catalytic activity.

PubMed ID: 9763561

PubMed ID: 10391209

Title: Characterization of single-nucleotide polymorphisms in coding regions of human genes.

PubMed ID: 10391209

DOI: 10.1038/10290

PubMed ID: 20179087

Title: Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function.

PubMed ID: 20179087

DOI: 10.3324/haematol.2009.017210

PubMed ID: 24889649

Title: Eight novel F13A1 gene missense mutations in patients with mild FXIII deficiency: in silico analysis suggests changes in FXIII-A subunit structure/function.

PubMed ID: 24889649

DOI: 10.1007/s00277-014-2102-4

PubMed ID: 24286209

Title: Severe congenital factor XIII deficiency caused by novel W187X and G273V mutations in the F13A gene; diagnosis and classification according to the ISTH/SSC guidelines.

PubMed ID: 24286209

DOI: 10.1111/hae.12298

PubMed ID: 24329762

Title: Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations.

PubMed ID: 24329762

DOI: 10.1111/hae.12340

PubMed ID: 27363989

Title: Coagulation factor XIIIA subunit missense mutations affect structure and function at the various steps of factor XIII action.

PubMed ID: 27363989

DOI: 10.1002/humu.23041

Sequence Information:

  • Length: 732
  • Mass: 83268
  • Checksum: 4B6820414B09B0D4
  • Sequence:
    • MSETSRTAFG GRRAVPPNNS NAAEDDLPTV ELQGVVPRGV NLQEFLNVTS VHLFKERWDT 
NKVDHHTDKY ENNKLIVRRG QSFYVQIDFS RPYDPRRDLF RVEYVIGRYP QENKGTYIPV 
PIVSELQSGK WGAKIVMRED RSVRLSIQSS PKCIVGKFRM YVAVWTPYGV LRTSRNPETD 
TYILFNPWCE DDAVYLDNEK EREEYVLNDI GVIFYGEVND IKTRSWSYGQ FEDGILDTCL 
YVMDRAQMDL SGRGNPIKVS RVGSAMVNAK DDEGVLVGSW DNIYAYGVPP SAWTGSVDIL 
LEYRSSENPV RYGQCWVFAG VFNTFLRCLG IPARIVTNYF SAHDNDANLQ MDIFLEEDGN 
VNSKLTKDSV WNYHCWNEAW MTRPDLPVGF GGWQAVDSTP QENSDGMYRC GPASVQAIKH 
GHVCFQFDAP FVFAEVNSDL IYITAKKDGT HVVENVDATH IGKLIVTKQI GGDGMMDITD 
TYKFQEGQEE ERLALETALM YGAKKPLNTE GVMKSRSNVD MDFEVENAVL GKDFKLSITF 
RNNSHNRYTI TAYLSANITF YTGVPKAEFK KETFDVTLEP LSFKKEAVLI QAGEYMGQLL 
EQASLHFFVT ARINETRDVL AKQKSTVLTI PEIIIKVRGT QVVGSDMTVT VEFTNPLKET 
LRNVWVHLDG PGVTRPMKKM FREIRPNSTV QWEEVCRPWV SGHRKLIASM SSDSLRHVYG 
ELDVQIQRRP SM

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.