Details for: SERPING1

Gene ID: 710

Symbol: SERPING1

Ensembl ID: ENSG00000149131

Description: serpin family G member 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 262.5121
    Cell Significance Index: -40.8300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 131.8584
    Cell Significance Index: -33.4500
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 103.9453
    Cell Significance Index: -42.8200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 87.7892
    Cell Significance Index: -35.6700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 85.5710
    Cell Significance Index: -40.4000
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 79.0069
    Cell Significance Index: -40.6400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 37.0728
    Cell Significance Index: -35.4000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 33.1885
    Cell Significance Index: -40.9200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 14.9317
    Cell Significance Index: -40.0000
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: 10.4416
    Cell Significance Index: 59.8700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 10.1241
    Cell Significance Index: -39.9500
  • Cell Name: theca cell (CL0000503)
    Fold Change: 9.3106
    Cell Significance Index: 54.7000
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 6.9264
    Cell Significance Index: 116.6800
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 6.2711
    Cell Significance Index: 42.4900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 5.4173
    Cell Significance Index: 155.2900
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 4.6325
    Cell Significance Index: 28.6600
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 4.5288
    Cell Significance Index: 80.0300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 4.2324
    Cell Significance Index: 220.4600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 3.8442
    Cell Significance Index: 527.9200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 2.9548
    Cell Significance Index: 57.6700
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 2.8926
    Cell Significance Index: 37.0500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 2.3177
    Cell Significance Index: 297.1100
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 2.2701
    Cell Significance Index: 10.4900
  • Cell Name: peg cell (CL4033014)
    Fold Change: 1.8523
    Cell Significance Index: 42.8000
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.4539
    Cell Significance Index: 21.4600
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.2512
    Cell Significance Index: 19.8500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.1974
    Cell Significance Index: 237.6400
  • Cell Name: fibroblast of the aortic adventitia (CL0002547)
    Fold Change: 0.9840
    Cell Significance Index: 9.9300
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.9030
    Cell Significance Index: 5.2000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.8365
    Cell Significance Index: 62.3400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.8358
    Cell Significance Index: 22.7500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.8260
    Cell Significance Index: 17.2900
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 0.5669
    Cell Significance Index: 2.1400
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: 0.5328
    Cell Significance Index: 2.4600
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.3806
    Cell Significance Index: 5.4700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.3768
    Cell Significance Index: 19.0400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3291
    Cell Significance Index: 118.0600
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.2961
    Cell Significance Index: 1.4400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2370
    Cell Significance Index: 27.6200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1684
    Cell Significance Index: 74.4700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1489
    Cell Significance Index: 29.8700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1049
    Cell Significance Index: 17.9200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0917
    Cell Significance Index: 1.5400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0881
    Cell Significance Index: 55.9700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0508
    Cell Significance Index: 37.2800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0203
    Cell Significance Index: 15.3800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0160
    Cell Significance Index: 1.5800
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.0107
    Cell Significance Index: 0.0900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0075
    Cell Significance Index: 14.1400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0127
    Cell Significance Index: -23.5000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0170
    Cell Significance Index: -12.5900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0184
    Cell Significance Index: -12.7400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0191
    Cell Significance Index: -29.4700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0259
    Cell Significance Index: -14.1700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0274
    Cell Significance Index: -17.0900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0289
    Cell Significance Index: -39.3300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0483
    Cell Significance Index: -5.9500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0486
    Cell Significance Index: -22.0600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0583
    Cell Significance Index: -32.8800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0643
    Cell Significance Index: -11.5900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0693
    Cell Significance Index: -7.9400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0824
    Cell Significance Index: -8.4200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0930
    Cell Significance Index: -12.0200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1079
    Cell Significance Index: -22.7300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1142
    Cell Significance Index: -32.8600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1151
    Cell Significance Index: -4.0000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1263
    Cell Significance Index: -18.3600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1438
    Cell Significance Index: -8.0700
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.1600
    Cell Significance Index: -1.6700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1901
    Cell Significance Index: -8.9400
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.2327
    Cell Significance Index: -2.5400
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: -0.2401
    Cell Significance Index: -1.5100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2807
    Cell Significance Index: -7.3800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.3232
    Cell Significance Index: -22.8600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.3427
    Cell Significance Index: -39.1200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.3441
    Cell Significance Index: -40.5800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3520
    Cell Significance Index: -18.4800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3531
    Cell Significance Index: -27.1000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3773
    Cell Significance Index: -39.2900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.4162
    Cell Significance Index: -25.5800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.4436
    Cell Significance Index: -11.8500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4624
    Cell Significance Index: -36.6200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.5158
    Cell Significance Index: -24.0500
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.5387
    Cell Significance Index: -6.1200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.5449
    Cell Significance Index: -14.5800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.6036
    Cell Significance Index: -15.4200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.6056
    Cell Significance Index: -40.7200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.6134
    Cell Significance Index: -39.5800
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: -0.6293
    Cell Significance Index: -3.9100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.6400
    Cell Significance Index: -40.3400
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.6714
    Cell Significance Index: -12.4100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.6849
    Cell Significance Index: -35.5800
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.6944
    Cell Significance Index: -11.6800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6981
    Cell Significance Index: -42.8000
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: -0.7319
    Cell Significance Index: -1.6900
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.7628
    Cell Significance Index: -6.2200
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.7690
    Cell Significance Index: -8.3600
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.7995
    Cell Significance Index: -12.3700
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.8112
    Cell Significance Index: -8.9600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.8678
    Cell Significance Index: -25.5600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Serine Protease Inhibitor Function:** C1-INH, the protein encoded by SERPING1, is a potent inhibitor of serine proteases, including kallikrein-kinin system (KKS) and contact activation system (CAS) enzymes. 2. **Regulation of Complement Cascade:** SERPING1/C1-INH modulates the complement cascade, preventing excessive activation and inflammation. 3. **Negative Regulation of Endopeptidase Activity:** C1-INH inhibits endopeptidases, such as factor Xa and thrombin, thereby regulating fibrinolysis and coagulation. 4. **Tissue Distribution:** SERPING1 is expressed in various tissues, including lung, prostate, liver, and endothelial cells, highlighting its importance in maintaining tissue homeostasis. **Pathways and Functions:** 1. **Contact Activation System (CAS):** SERPING1/C1-INH regulates the CAS, preventing excessive activation of the KKS. 2. **Complement Cascade:** C1-INH modulates the complement cascade, preventing excessive activation and inflammation. 3. **Fibrinolysis:** SERPING1/C1-INH regulates fibrinolysis by inhibiting endopeptidases, such as factor Xa and thrombin. 4. **Coagulation:** C1-INH inhibits coagulation by regulating the activity of thrombin and factor Xa. **Clinical Significance:** 1. **Hereditary Angioedema (HAE):** Mutations in SERPING1 have been associated with HAE, a rare and debilitating disorder characterized by recurrent episodes of severe edema. 2. **Defects in Contact Activation System (CAS) and Kallikrein/Kinins System (KKS):** SERPING1/C1-INH regulates the CAS and KKS, highlighting the importance of these systems in maintaining tissue homeostasis and immune function. 3. **Implications for Fibrinolysis and Coagulation:** SERPING1/C1-INH plays a critical role in regulating fibrinolysis and coagulation, making it an important target for the treatment of bleeding disorders. 4. **Potential Therapeutic Applications:** Understanding the role of SERPING1 in regulating the CAS and KKS has implications for the development of novel therapeutic strategies for HAE and other disorders associated with dysregulation of these systems. In conclusion, the SERPING1 gene plays a critical role in regulating the contact activation system and complement cascade, highlighting the importance of C1-INH as a serine protease inhibitor. Mutations in SERPING1 have been associated with hereditary angioedema, and understanding the role of this gene in regulating fibrinolysis and coagulation has implications for the treatment of bleeding disorders.

Genular Protein ID: 2444783558

Symbol: IC1_HUMAN

Name: Plasma protease C1 inhibitor

UniProtKB Accession Codes:

P05155 A6NMU0 A8KAI9 B2R6L5 B4E1F0 B4E1H2 Q16304 Q547W3 Q59EI5 Q7Z455 Q96FE0 Q9UC49 Q9UCF9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CPTAC 4 CTD 1 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EMBL 28 EMDB 1 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 14 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MEROPS 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 4 RefSeq 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3488058

Title: Isolation and analysis of a cDNA coding for human C1 inhibitor.

PubMed ID: 3488058

DOI: 10.1016/0006-291x(86)91123-x

PubMed ID: 3756141

Title: Human C1 inhibitor: primary structure, cDNA cloning, and chromosomal localization.

PubMed ID: 3756141

DOI: 10.1021/bi00363a018

PubMed ID: 3267220

Title: Genomic and cDNA cloning of the human C1 inhibitor. Intron-exon junctions and comparison with other serpins.

PubMed ID: 3267220

DOI: 10.1111/j.1432-1033.1988.tb13980.x

PubMed ID: 2026152

Title: Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements.

PubMed ID: 2026152

DOI: 10.1111/j.1432-1033.1991.tb15911.x

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

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: 3393514

Title: Molecular cloning of the cDNA coding for human C1 inhibitor.

PubMed ID: 3393514

PubMed ID: 12773530

Title: The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain, as revealed by a pathological mutant.

PubMed ID: 12773530

DOI: 10.1074/jbc.m302977200

PubMed ID: 6416294

Title: Human C1 inhibitor: improved isolation and preliminary structural characterization.

PubMed ID: 6416294

DOI: 10.1021/bi00290a019

PubMed ID: 2154751

Title: Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements.

PubMed ID: 2154751

DOI: 10.1073/pnas.87.4.1551

PubMed ID: 3089875

Title: Molecular cloning of human C1 inhibitor: sequence homologies with alpha 1-antitrypsin and other members of the serpins superfamily.

PubMed ID: 3089875

DOI: 10.1016/0378-1119(86)90230-1

PubMed ID: 8618290

Title: Molecular weights and isoelectric points of sperm antigens relevant to autoimmune infertility in men.

PubMed ID: 8618290

DOI: 10.1097/00005392-199606000-00030

PubMed ID: 3458172

Title: Human inhibitor of the first component of complement, C1: characterization of cDNA clones and localization of the gene to chromosome 11.

PubMed ID: 3458172

DOI: 10.1073/pnas.83.10.3161

PubMed ID: 7814636

Title: Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.

PubMed ID: 7814636

DOI: 10.1172/jci117663

PubMed ID: 8495195

Title: Chymotrypsin inhibitory activity of normal C1-inhibitor and a P1 Arg to His mutant: evidence for the presence of overlapping reactive centers.

PubMed ID: 8495195

DOI: 10.1002/pro.5560020504

PubMed ID: 10946292

Title: Proteolytic activities of two types of mannose-binding lectin-associated serine protease.

PubMed ID: 10946292

DOI: 10.4049/jimmunol.165.5.2637

PubMed ID: 12123444

Title: StcE, a metalloprotease secreted by Escherichia coli O157:H7, specifically cleaves C1 esterase inhibitor.

PubMed ID: 12123444

DOI: 10.1046/j.1365-2958.2002.02997.x

PubMed ID: 12754519

Title: Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.

PubMed ID: 12754519

DOI: 10.1038/nbt827

PubMed ID: 15096536

Title: Potentiation of C1 esterase inhibitor by StcE, a metalloprotease secreted by Escherichia coli O157:H7.

PubMed ID: 15096536

DOI: 10.1084/jem.20030255

PubMed ID: 14760718

Title: Screening for N-glycosylated proteins by liquid chromatography mass spectrometry.

PubMed ID: 14760718

DOI: 10.1002/pmic.200300556

PubMed ID: 16040958

Title: N-linked glycosylation at Asn3 and the positively charged residues within the amino-terminal domain of the c1 inhibitor are required for interaction of the C1 Inhibitor with Salmonella enterica serovar typhimurium lipopolysaccharide and lipid A.

PubMed ID: 16040958

DOI: 10.1128/iai.73.8.4478-4487.2005

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: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 19139490

Title: A strategy for precise and large scale identification of core fucosylated glycoproteins.

PubMed ID: 19139490

DOI: 10.1074/mcp.m800504-mcp200

PubMed ID: 19838169

Title: Enrichment of glycopeptides for glycan structure and attachment site identification.

PubMed ID: 19838169

DOI: 10.1038/nmeth.1392

PubMed ID: 22171320

Title: Human urinary glycoproteomics; attachment site specific analysis of N- and O-linked glycosylations by CID and ECD.

PubMed ID: 22171320

DOI: 10.1074/mcp.m111.013649

PubMed ID: 23234360

Title: LC-MS/MS characterization of O-glycosylation sites and glycan structures of human cerebrospinal fluid glycoproteins.

PubMed ID: 23234360

DOI: 10.1021/pr300963h

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 17488724

Title: C1 inhibitor serpin domain structure reveals the likely mechanism of heparin potentiation and conformational disease.

PubMed ID: 17488724

DOI: 10.1074/jbc.m700841200

PubMed ID: 7749926

Title: What do dysfunctional serpins tell us about molecular mobility and disease?

PubMed ID: 7749926

DOI: 10.1038/nsb0295-96

PubMed ID: 3178731

Title: Dysfunctional C1-inhibitor(At), isolated from a type II hereditary-angio-oedema plasma, contains a P1 'reactive centre' (Arg444-->His) mutation.

PubMed ID: 3178731

DOI: 10.1042/bj2530615

PubMed ID: 2365061

Title: Identification of a new P1 residue mutation (444Arg-->Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma.

PubMed ID: 2365061

DOI: 10.1016/0014-5793(90)81494-9

PubMed ID: 2296585

Title: Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene.

PubMed ID: 2296585

DOI: 10.1073/pnas.87.1.265

PubMed ID: 2118657

Title: Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site.

PubMed ID: 2118657

DOI: 10.1073/pnas.87.17.6786

PubMed ID: 1451784

Title: A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu).

PubMed ID: 1451784

DOI: 10.1016/0014-5793(92)80204-t

PubMed ID: 1363816

Title: C1 inhibitor hinge region mutations produce dysfunction by different mechanisms.

PubMed ID: 1363816

DOI: 10.1038/ng0892-354

PubMed ID: 8172583

Title: Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema.

PubMed ID: 8172583

PubMed ID: 7883978

Title: Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein.

PubMed ID: 7883978

DOI: 10.1172/jci117780

PubMed ID: 8529136

Title: A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema.

PubMed ID: 8529136

DOI: 10.1007/bf03401610

PubMed ID: 8755917

Title: Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.

PubMed ID: 8755917

PubMed ID: 14635117

Title: Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema.

PubMed ID: 14635117

DOI: 10.1002/humu.9202

PubMed ID: 16409206

Title: Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations.

PubMed ID: 16409206

DOI: 10.1111/j.1398-9995.2006.01010.x

PubMed ID: 22994404

Title: Mutational spectrum and geno-phenotype correlation in Chinese families with Hereditary Angioedema.

PubMed ID: 22994404

DOI: 10.1111/all.12024

PubMed ID: 24456027

Title: Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations.

PubMed ID: 24456027

DOI: 10.1111/ahg.12052

Sequence Information:

  • Length: 500
  • Mass: 55154
  • Checksum: 8B5E874833EA6C05
  • Sequence:
    • MASRLTLLTL LLLLLAGDRA SSNPNATSSS SQDPESLQDR GEGKVATTVI SKMLFVEPIL 
EVSSLPTTNS TTNSATKITA NTTDEPTTQP TTEPTTQPTI QPTQPTTQLP TDSPTQPTTG 
SFCPGPVTLC SDLESHSTEA VLGDALVDFS LKLYHAFSAM KKVETNMAFS PFSIASLLTQ 
VLLGAGENTK TNLESILSYP KDFTCVHQAL KGFTTKGVTS VSQIFHSPDL AIRDTFVNAS 
RTLYSSSPRV LSNNSDANLE LINTWVAKNT NNKISRLLDS LPSDTRLVLL NAIYLSAKWK 
TTFDPKKTRM EPFHFKNSVI KVPMMNSKKY PVAHFIDQTL KAKVGQLQLS HNLSLVILVP 
QNLKHRLEDM EQALSPSVFK AIMEKLEMSK FQPTLLTLPR IKVTTSQDML SIMEKLEFFD 
FSYDLNLCGL TEDPDLQVSA MQHQTVLELT ETGVEAAAAS AISVARTLLV FEVQQPFLFV 
LWDQQHKFPV FMGRVYDPRA

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.