Details for: F7

Gene ID: 2155

Symbol: F7

Ensembl ID: ENSG00000057593

Description: coagulation factor VII

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: colon goblet cell (CL0009039)
    Fold Change: 1.62
    Marker Score: 1174
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 1.33
    Marker Score: 2042.5
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.3
    Marker Score: 886
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.16
    Marker Score: 3809
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.15
    Marker Score: 7677
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4821
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.13
    Marker Score: 6872
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.02
    Marker Score: 2113
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71834
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48058
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 510
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 463
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.97
    Marker Score: 402
  • 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: 5354
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.94
    Marker Score: 375
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.91
    Marker Score: 418
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 326
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.89
    Marker Score: 3858
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.89
    Marker Score: 1450
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.86
    Marker Score: 1632
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 711
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 398
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.72
    Marker Score: 3883
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.72
    Marker Score: 4640
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.59
    Marker Score: 377.5
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 173
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.46
    Marker Score: 277
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.34
    Marker Score: 109
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.32
    Marker Score: 347
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.3
    Marker Score: 718
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.28
    Marker Score: 135
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.27
    Marker Score: 4203
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.24
    Marker Score: 88
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.22
    Marker Score: 68
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 73
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.21
    Marker Score: 210
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.2
    Marker Score: 415
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.2
    Marker Score: 127
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.19
    Marker Score: 60
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.19
    Marker Score: 321
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.18
    Marker Score: 185
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.18
    Marker Score: 67
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.17
    Marker Score: 214
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 42
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.17
    Marker Score: 62
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 0.16
    Marker Score: 123
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.14
    Marker Score: 87
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.14
    Marker Score: 200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.12
    Marker Score: 119
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.12
    Marker Score: 47
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.12
    Marker Score: 55
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.11
    Marker Score: 76
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.11
    Marker Score: 36
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.1
    Marker Score: 63
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.09
    Marker Score: 43
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.09
    Marker Score: 86
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.09
    Marker Score: 30
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.08
    Marker Score: 22
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 0.08
    Marker Score: 23
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.08
    Marker Score: 82
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.08
    Marker Score: 29
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: 0.08
    Marker Score: 36
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.08
    Marker Score: 20
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.08
    Marker Score: 17
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.08
    Marker Score: 39
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.07
    Marker Score: 214
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.07
    Marker Score: 129
  • Cell Name: NKp44-negative group 3 innate lymphoid cell, human (CL0001080)
    Fold Change: 0.07
    Marker Score: 16
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.07
    Marker Score: 30
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.07
    Marker Score: 111
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.07
    Marker Score: 28
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.07
    Marker Score: 163
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.07
    Marker Score: 27
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.07
    Marker Score: 17
  • Cell Name: muscle precursor cell (CL0000680)
    Fold Change: 0.07
    Marker Score: 17
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.07
    Marker Score: 101
  • Cell Name: progenitor cell of endocrine pancreas (CL0002351)
    Fold Change: 0.06
    Marker Score: 14
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.06
    Marker Score: 14
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.06
    Marker Score: 64
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.06
    Marker Score: 90
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.06
    Marker Score: 17
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.06
    Marker Score: 14
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.06
    Marker Score: 71
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.06
    Marker Score: 24
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.06
    Marker Score: 26
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.06
    Marker Score: 14
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.06
    Marker Score: 31
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.05
    Marker Score: 713
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.05
    Marker Score: 557
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.05
    Marker Score: 1972
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.05
    Marker Score: 16
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.05
    Marker Score: 15
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.05
    Marker Score: 17
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.05
    Marker Score: 16
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.05
    Marker Score: 19

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Other Information

**Key characteristics:** * F7 is a transmembrane protein with a molecular weight of approximately 500 kDa. * It is a key factor in the coagulation cascade, which is responsible for blood clot formation. * F7 is produced by a variety of cell types, including endothelial cells, epithelial cells, and immune cells. * It is a glycoprotein that is expressed on the surface of endothelial cells and immune cells. * It is a key regulator of blood clotting and is involved in the regulation of hemostasis and inflammation. **Pathways and functions:** * F7 is a key factor in the coagulation cascade, which is responsible for blood clot formation. * It is activated by the Bmal1:clock, npas2 signaling pathway, which is involved in the regulation of circadian gene expression. * It is also activated by calcium ion binding and the extrinsic pathway of fibrin clot formation. * F7 is involved in the formation of fibrin clots, where it helps to stabilize the clot and promote hemostasis. * It is also involved in the metabolism of proteins, and it is a key regulator of leukocyte chemotaxis. **Clinical significance:** * Mutations in the F7 gene can lead to a genetic disorder called von Willebrand disease, which is characterized by abnormal blood clotting. * F7 is a potential therapeutic target for thrombosis and cancer. * Studies of F7 have also shown that it may be involved in the pathogenesis of inflammatory diseases, such as rheumatoid arthritis and Crohn's disease.

Genular Protein ID: 3062102273

Symbol: FA7_HUMAN

Name: Coagulation factor VII

UniProtKB Accession Codes:

P08709 B0YJC8 Q14339 Q5JVF1 Q5JVF2 Q9UD52 Q9UD53 Q9UD54

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CORUM 1 CTD 1 ChEMBL 1 ComplexPortal 2 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 16 DrugCentral 1 EC 2 ELM 1 EMBL 11 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 35 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 14 KEGG 1 MANE-Select 1 MEROPS 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 100 PDBsum 100 PIR 1 PIRSF 1 PRINTS 3 PRO 1 PROSITE 10 PROSITE-ProRule 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 5 RefSeq 2 SABIO-RK 1 SIGNOR 1 SMART 4 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 3486420

Title: Characterization of a cDNA coding for human factor VII.

PubMed ID: 3486420

DOI: 10.1073/pnas.83.8.2412

PubMed ID: 3037537

Title: Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation.

PubMed ID: 3037537

DOI: 10.1073/pnas.84.15.5158

PubMed ID: 16292673

Title: Human F7 sequence is split into three deep clades that are related to FVII plasma levels.

PubMed ID: 16292673

DOI: 10.1007/s00439-005-0045-5

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

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: 3264725

Title: Amino acid sequence and posttranslational modifications of human factor VIIa from plasma and transfected baby hamster kidney cells.

PubMed ID: 3264725

DOI: 10.1021/bi00420a030

PubMed ID: 8043443

Title: Molecular defects in CRM+ factor VII deficiencies: modelling of missense mutations in the catalytic domain of FVII.

PubMed ID: 8043443

DOI: 10.1111/j.1365-2141.1994.tb04793.x

PubMed ID: 2511201

Title: Identification of a disaccharide (Xyl-Glc) and a trisaccharide (Xyl2-Glc) O-glycosidically linked to a serine residue in the first epidermal growth factor-like domain of human factors VII and IX and protein Z and bovine protein Z.

PubMed ID: 2511201

DOI: 10.1016/s0021-9258(19)47065-8

PubMed ID: 2129367

Title: A new trisaccharide sugar chain linked to a serine residue in the first EGF-like domain of clotting factors VII and IX and protein Z.

PubMed ID: 2129367

DOI: 10.1007/978-1-4615-3806-6_12

PubMed ID: 1904059

Title: Human plasma and recombinant factor VII. Characterization of O-glycosylations at serine residues 52 and 60 and effects of site-directed mutagenesis of serine 52 to alanine.

PubMed ID: 1904059

DOI: 10.1016/s0021-9258(18)99126-x

PubMed ID: 9023546

Title: Identification of a GDP-L-fucose:polypeptide fucosyltransferase and enzymatic addition of O-linked fucose to EGF domains.

PubMed ID: 9023546

DOI: 10.1093/glycob/6.8.837

PubMed ID: 19167329

Title: Cotranslational and posttranslational N-glycosylation of polypeptides by distinct mammalian OST isoforms.

PubMed ID: 19167329

DOI: 10.1016/j.cell.2008.11.047

PubMed ID: 21949356

Title: Rumi functions as both a protein O-glucosyltransferase and a protein O-xylosyltransferase.

PubMed ID: 21949356

DOI: 10.1073/pnas.1109696108

PubMed ID: 8598903

Title: The crystal structure of the complex of blood coagulation factor VIIa with soluble tissue factor.

PubMed ID: 8598903

DOI: 10.1038/380041a0

PubMed ID: 9925787

Title: Structure of extracellular tissue factor complexed with factor VIIa inhibited with a BPTI mutant.

PubMed ID: 9925787

DOI: 10.1006/jmbi.1998.2452

PubMed ID: 9692950

Title: Solution structure of the N-terminal EGF-like domain from human factor VII.

PubMed ID: 9692950

DOI: 10.1021/bi980522f

PubMed ID: 2070047

Title: Purification and characterization of factor VII 304-Gln: a variant molecule with reduced activity isolated from a clinically unaffected male.

PubMed ID: 2070047

PubMed ID: 1634227

Title: Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7).

PubMed ID: 1634227

DOI: 10.1007/bf00219173

PubMed ID: 8364544

Title: A missense mutation (178Cys-->Tyr) and two neutral dimorphisms (115His and 333Ser) in the human coagulation factor VII gene.

PubMed ID: 8364544

DOI: 10.1093/hmg/2.7.1055

PubMed ID: 8242057

Title: Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII.

PubMed ID: 8242057

DOI: 10.1093/hmg/2.9.1355

PubMed ID: 8204879

Title: Severe factor VII deficiency caused by mutations abolishing the cleavage site for activation and altering binding to tissue factor.

PubMed ID: 8204879

PubMed ID: 7860081

Title: A common Ser/Thr polymorphism in the perforin-homologous region of human complement component C7.

PubMed ID: 7860081

DOI: 10.1159/000154235

PubMed ID: 7981691

Title: Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala-->Val) and X (334Ser-->Pro).

PubMed ID: 7981691

DOI: 10.1093/hmg/3.7.1175

PubMed ID: 7974346

Title: Factor VII Mie: homozygous asymptomatic type I deficiency caused by an amino acid substitution of His (CAC) for Arg(247) (CGC) in the catalytic domain.

PubMed ID: 7974346

PubMed ID: 8652821

Title: A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule.

PubMed ID: 8652821

PubMed ID: 8844208

Title: Mutation pattern in clinically asymptomatic coagulation factor VII deficiency.

PubMed ID: 8844208

DOI: 10.1002/(sici)1098-1004(1996)8:2<108::aid-humu2>3.0.co;2-7

PubMed ID: 8940045

Title: Factor VII central. A novel mutation in the catalytic domain that reduces tissue factor binding, impairs activation by factor Xa, and abolishes amidolytic and coagulant activity.

PubMed ID: 8940045

DOI: 10.1074/jbc.271.48.30685

PubMed ID: 8883260

Title: Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews.

PubMed ID: 8883260

PubMed ID: 9414278

Title: Factor VII deficiency caused by a structural variant N57D of the first epidermal growth factor domain.

PubMed ID: 9414278

PubMed ID: 9576180

Title: Factor VII Morioka (FVII L-26P): a homozygous missense mutation in the signal sequence identified in a patient with factor VII deficiency.

PubMed ID: 9576180

DOI: 10.1046/j.1365-2141.1998.00666.x

PubMed ID: 9452082

Title: Two new missense mutations (P134T and A244V) in the coagulation factor VII gene.

PubMed ID: 9452082

DOI: 10.1002/humu.1380110161

PubMed ID: 10391209

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

PubMed ID: 10391209

DOI: 10.1038/10290

PubMed ID: 11091194

Title: Two novel factor VII gene mutations in a Chinese family with factor VII deficiency.

PubMed ID: 11091194

DOI: 10.1046/j.1365-2141.2000.02332.x

PubMed ID: 11129332

Title: Molecular analysis of the genotype-phenotype relationship in factor VII deficiency.

PubMed ID: 11129332

DOI: 10.1007/s004390000373

PubMed ID: 10862079

Title: Twenty two novel mutations of the factor VII gene in factor VII deficiency.

PubMed ID: 10862079

DOI: 10.1002/1098-1004(200006)15:6<489::aid-humu1>3.0.co;2-j

PubMed ID: 10984565

Title: Polymorphisms in the factor VII gene and the risk of myocardial infarction in patients with coronary artery disease.

PubMed ID: 10984565

DOI: 10.1056/nejm200009143431104

PubMed ID: 12472587

Title: Two double heterozygous mutations in the F7 gene show different manifestations.

PubMed ID: 12472587

DOI: 10.1046/j.1365-2141.2002.03933.x

PubMed ID: 14717781

Title: A patient homozygous for a Gly354Cys mutation in factor VII that results in severely impaired secretion of the molecule, but not complete deficiency.

PubMed ID: 14717781

DOI: 10.1046/j.1365-2141.2003.04778.x

PubMed ID: 19751712

Title: Phenotypic and genotypic characterization of Factor VII deficiency patients from Western India.

PubMed ID: 19751712

DOI: 10.1016/j.cca.2009.09.007

PubMed ID: 18976247

Title: Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene.

PubMed ID: 18976247

DOI: 10.1111/j.1365-2516.2008.01910.x

PubMed ID: 19432927

Title: Familial factor VII deficiency with foetal and neonatal fatal cerebral haemorrhage associated with homozygosis to Gly180Arg mutation.

PubMed ID: 19432927

DOI: 10.1111/j.1365-2516.2009.02004.x

PubMed ID: 21206266

Title: Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea.

PubMed ID: 21206266

DOI: 10.1097/mbc.0b013e328343641a

PubMed ID: 21372693

Title: A novel missense mutation close to the charge-stabilizing system in a patient with congenital factor VII deficiency.

PubMed ID: 21372693

DOI: 10.1097/mbc.0b013e3283447388

PubMed ID: 26761581

Title: Severe coagulation factor VII deficiency caused by a novel homozygous mutation (p. Trp284Gly) in loop 140s.

PubMed ID: 26761581

DOI: 10.1097/mbc.0000000000000499

Sequence Information:

  • Length: 466
  • Mass: 51594
  • Checksum: 9B5D501669D67B06
  • Sequence:
    • MVSQALRLLC LLLGLQGCLA AGGVAKASGG ETRDMPWKPG PHRVFVTQEE AHGVLHRRRR 
ANAFLEELRP GSLERECKEE QCSFEEAREI FKDAERTKLF WISYSDGDQC ASSPCQNGGS 
CKDQLQSYIC FCLPAFEGRN CETHKDDQLI CVNENGGCEQ YCSDHTGTKR SCRCHEGYSL 
LADGVSCTPT VEYPCGKIPI LEKRNASKPQ GRIVGGKVCP KGECPWQVLL LVNGAQLCGG 
TLINTIWVVS AAHCFDKIKN WRNLIAVLGE HDLSEHDGDE QSRRVAQVII PSTYVPGTTN 
HDIALLRLHQ PVVLTDHVVP LCLPERTFSE RTLAFVRFSL VSGWGQLLDR GATALELMVL 
NVPRLMTQDC LQQSRKVGDS PNITEYMFCA GYSDGSKDSC KGDSGGPHAT HYRGTWYLTG 
IVSWGQGCAT VGHFGVYTRV SQYIEWLQKL MRSEPRPGVL LRAPFP

Genular Protein ID: 2994434558

Symbol: B4DPM2_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DPM2

Database IDs:

ARBA 8 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 2 CTD 1 DNASU 1 EMBL 2 GO 5 Gene3D 2 GenomeRNAi 1 InterPro 11 MEROPS 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PIRSR 1 PRINTS 2 PROSITE 10 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 3 RefSeq 1 RuleBase 1 SAM 1 SMART 3 SUPFAM 2

Sequence Information:

  • Length: 397
  • Mass: 43608
  • Checksum: 67EFB8E45CC42C77
  • Sequence:
    • MGNVNRQGQH CRDFIMVSQA LRLLCLLLGL QGCLAADGDQ CASSPCQNGG SCKDQLQSYI 
CFCLPAFEGR NCETHKDDQL ICVNENGGCE QYCSDHTGTK RSCRCHEGYS LLADGVSCTP 
TVEYPCGKIP ILEKRNASKP QGRIVGGKVC PKGECPWQVL LLVNGAQLCG GTLINTIWVV 
SAAHCFDKIK NWRNLIAVLG EHDLSEHDGD EQSRRVAQVI IPSTYVPGTT NHDIALLRLH 
QPVVLTDHVV PLCLPERTFS ERTLAFVRFS LVSGWGQLLD RGATALELMV LNVPRLMTQD 
CLQQSRKVGD SPNITEYMFC AGYSDGSKDS CKGDSGGPHA THYQGTWYLT GIVSWGQGCA 
TVGHFGVYTR VSQYIEWLQK LMRSEPRPGV LLRAPFP

Genular Protein ID: 1752946743

Symbol: F5H8B0_HUMAN

Name: N/A

UniProtKB Accession Codes:

F5H8B0

Database IDs:

ARBA 8 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 2 CTD 1 DNASU 1 EMBL 1 Ensembl 2 ExpressionAtlas 1 GO 5 Gene3D 2 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 11 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PIRSR 1 PRINTS 2 PROSITE 10 PROSITE-ProRule 1 PeptideAtlas 2 Pfam 3 Proteomes 2 ProteomicsDB 1 RefSeq 1 RuleBase 1 SAM 1 SMART 3 SMR 1 SUPFAM 2 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 15057823

Title: The DNA sequence and analysis of human chromosome 13.

PubMed ID: 15057823

DOI: 10.1038/nature02379

Sequence Information:

  • Length: 382
  • Mass: 41879
  • Checksum: 9D63822120051CDD
  • Sequence:
    • MVSQALRLLC LLLGLQGCLA ADGDQCASSP CQNGGSCKDQ LQSYICFCLP AFEGRNCETH 
KDDQLICVNE NGGCEQYCSD HTGTKRSCRC HEGYSLLADG VSCTPTVEYP CGKIPILEKR 
NASKPQGRIV GGKVCPKGEC PWQVLLLVNG AQLCGGTLIN TIWVVSAAHC FDKIKNWRNL 
IAVLGEHDLS EHDGDEQSRR VAQVIIPSTY VPGTTNHDIA LLRLHQPVVL TDHVVPLCLP 
ERTFSERTLA FVRFSLVSGW GQLLDRGATA LELMVLNVPR LMTQDCLQQS RKVGDSPNIT 
EYMFCAGYSD GSKDSCKGDS GGPHATHYRG TWYLTGIVSW GQGCATVGHF GVYTRVSQYI 
EWLQKLMRSE PRPGVLLRAP FP

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.