Alias (NCBI) | C1IN |
| C1INH |
| C1NH |
| HAE1 |
| HAE2 |
HGNC (Hugo) |
SERPING1 |
HGNC Alias symb | C1IN |
| C1-INH |
| HAE1 |
| HAE2 |
| C1INH |
HGNC Alias name | plasma protease C1 inhibitor |
| angioedema, hereditary |
| C1-inhibitor |
HGNC Previous name | C1NH |
HGNC Previous name | serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary) |
| serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 |
LocusID (NCBI) |
710 |
Atlas_Id |
55836 |
Location |
11q12.1 [Link to chromosome band 11q12] |
Location_base_pair |
Starts at 57598211 and ends at 57614848 bp from pter ( according to hg38-Dec_2013) |
| ACTN4 (19q13.2) / SERPING1 (11q12.1) | ALB (4q13.3) / SERPING1 (11q12.1) | APLP2 (11q24.3) / SERPING1 (11q12.1) |
|
LOC100507412 (-) / SERPING1 (11q12.1) | RPA2 (1p35.3) / SERPING1 (11q12.1) | SERPING1 (11q12.1) / CPNE1 (20q11.22) |
|
SERPING1 (11q12.1) / EIF4EBP2 (10q22.1) | SERPING1 (11q12.1) / ILF3 (19p13.2) | SERPING1 (11q12.1) / SERPING1 (11q12.1) |
|
| Nomenclature |
HGNC (Hugo) | SERPING1 1228 |
LRG (Locus Reference Genomic) | LRG_105 |
| Cards |
Entrez_Gene (NCBI) | SERPING1 serpin family G member 1 |
Aliases | C1IN; C1INH; C1NH; HAE1; |
| HAE2 |
GeneCards (Weizmann) | SERPING1 |
Ensembl hg19 (Hinxton) | ENSG00000149131 [Gene_View] |
Ensembl hg38 (Hinxton) | ENSG00000149131 [Gene_View]  ENSG00000149131 [Sequence] chr11:57598211-57614848 [Contig_View] SERPING1 [Vega] |
ICGC DataPortal | ENSG00000149131 |
TCGA cBioPortal | SERPING1 |
AceView (NCBI) | SERPING1 |
Genatlas (Paris) | SERPING1 |
SOURCE (Princeton) | SERPING1 |
Genetics Home Reference (NIH) | SERPING1 |
| Genomic and cartography |
GoldenPath hg38 (UCSC) | SERPING1 - chr11:57598211-57614848 + 11q12.1 [Description] (hg38-Dec_2013) |
GoldenPath hg19 (UCSC) | SERPING1 - 11q12.1 [Description] (hg19-Feb_2009) |
GoldenPath | SERPING1 - 11q12.1 [CytoView hg19] SERPING1 - 11q12.1 [CytoView hg38] |
ImmunoBase | ENSG00000149131 |
genome Data Viewer NCBI | SERPING1 [Mapview hg19] |
OMIM | 106100 106100 120790 606860 |
| Gene and transcription |
Genbank (Entrez) | AB209826 AK293054 AK303809 AK303840 AK312626 |
RefSeq transcript (Entrez) | NM_000062 NM_001032295 |
RefSeq genomic (Entrez) | |
Consensus coding sequences : CCDS (NCBI) | SERPING1 |
Alternative Splicing Gallery | ENSG00000149131 |
Gene Expression | SERPING1 [ NCBI-GEO ] SERPING1 [ EBI - ARRAY_EXPRESS ]
SERPING1 [ SEEK ] SERPING1 [ MEM ] |
Gene Expression Viewer (FireBrowse) | SERPING1 [ Firebrowse - Broad ] |
Genevisible | Expression of SERPING1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]   |
BioGPS (Tissue expression) | 710 |
GTEX Portal (Tissue expression) | SERPING1 |
Human Protein Atlas | ENSG00000149131-SERPING1 [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
UniProt/SwissProt | P05155 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
NextProt | P05155 [Sequence] [Exons] [Medical] [Publications] |
With graphics : InterPro | P05155 |
Splice isoforms : SwissVar | P05155 |
PhosPhoSitePlus | P05155 |
Domaine pattern : Prosite (Expaxy) | SERPIN (PS00284) |
Domains : Interpro (EBI) | C1-inh Serpin_CS Serpin_dom Serpin_fam Serpin_sf Serpin_sf_1 Serpin_sf_2 |
Domain families : Pfam (Sanger) | Serpin (PF00079) |
Domain families : Pfam (NCBI) | pfam00079 |
Domain families : Smart (EMBL) | SERPIN (SM00093) |
Conserved Domain (NCBI) | SERPING1 |
Blocks (Seattle) | SERPING1 |
PDB (RSDB) | 1M6Q 2OAY 5DU3 5DUQ |
PDB Europe | 1M6Q 2OAY 5DU3 5DUQ |
PDB (PDBSum) | 1M6Q 2OAY 5DU3 5DUQ |
PDB (IMB) | 1M6Q 2OAY 5DU3 5DUQ |
Structural Biology KnowledgeBase | 1M6Q 2OAY 5DU3 5DUQ |
SCOP (Structural Classification of Proteins) | 1M6Q 2OAY 5DU3 5DUQ |
CATH (Classification of proteins structures) | 1M6Q 2OAY 5DU3 5DUQ |
Superfamily | P05155 |
Human Protein Atlas [tissue] | ENSG00000149131-SERPING1 [tissue] |
Peptide Atlas | P05155 |
HPRD | 06033 |
IPI | IPI00291866 IPI00479178 IPI00879931 IPI00879796 IPI00877850 IPI00877698 IPI01015363 IPI00556459 IPI00978581 IPI00979857 |
| Protein Interaction databases |
DIP (DOE-UCLA) | P05155 |
IntAct (EBI) | P05155 |
BioGRID | SERPING1 |
STRING (EMBL) | SERPING1 |
ZODIAC | SERPING1 |
| Ontologies - Pathways |
QuickGO | P05155 |
Ontology : AmiGO | negative regulation of complement activation, lectin pathway platelet degranulation serine-type endopeptidase inhibitor activity serine-type endopeptidase inhibitor activity protein binding extracellular region extracellular region extracellular space extracellular space complement activation, classical pathway aging blood coagulation, intrinsic pathway blood circulation negative regulation of endopeptidase activity regulation of complement activation platelet alpha granule lumen fibrinolysis innate immune response collagen-containing extracellular matrix extracellular exosome blood microparticle |
Ontology : EGO-EBI | negative regulation of complement activation, lectin pathway platelet degranulation serine-type endopeptidase inhibitor activity serine-type endopeptidase inhibitor activity protein binding extracellular region extracellular region extracellular space extracellular space complement activation, classical pathway aging blood coagulation, intrinsic pathway blood circulation negative regulation of endopeptidase activity regulation of complement activation platelet alpha granule lumen fibrinolysis innate immune response collagen-containing extracellular matrix extracellular exosome blood microparticle |
Pathways : KEGG | Complement and coagulation cascades Pertussis |
NDEx Network | SERPING1 |
Atlas of Cancer Signalling Network | SERPING1 |
Wikipedia pathways | SERPING1 |
| Orthology - Evolution |
OrthoDB | 710 |
GeneTree (enSembl) | ENSG00000149131 |
Phylogenetic Trees/Animal Genes : TreeFam | SERPING1 |
HOGENOM | P05155 |
Homologs : HomoloGene | SERPING1 |
Homology/Alignments : Family Browser (UCSC) | SERPING1 |
| Gene fusions - Rearrangements |
Fusion : Quiver | SERPING1 |
| Polymorphisms : SNP and Copy number variants |
NCBI Variation Viewer | SERPING1 [hg38] |
dbVar | SERPING1 |
ClinVar | SERPING1 |
Monarch | SERPING1 |
1000_Genomes | SERPING1 |
Exome Variant Server | SERPING1 |
GNOMAD Browser | ENSG00000149131 |
Varsome Browser | SERPING1 |
Genomic Variants (DGV) | SERPING1 [DGVbeta] |
DECIPHER | SERPING1 [patients] [syndromes] [variants] [genes] |
CONAN: Copy Number Analysis | SERPING1 |
| Mutations |
ICGC Data Portal | SERPING1 |
TCGA Data Portal | SERPING1 |
Broad Tumor Portal | SERPING1 |
OASIS Portal | SERPING1 [ Somatic mutations - Copy number] |
Somatic Mutations in Cancer : COSMIC | SERPING1 [overview] [genome browser] [tissue] [distribution] |
Somatic Mutations in Cancer : COSMIC3D | SERPING1 |
Mutations and Diseases : HGMD | SERPING1 |
LOVD (Leiden Open Variation Database) | Whole genome datasets |
LOVD (Leiden Open Variation Database) | LOVD - Leiden Open Variation Database |
LOVD (Leiden Open Variation Database) | LOVD 3.0 shared installation |
LOVD (Leiden Open Variation Database) | **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database |
BioMuta | search SERPING1 |
DgiDB (Drug Gene Interaction Database) | SERPING1 |
DoCM (Curated mutations) | SERPING1 (select the gene name) |
CIViC (Clinical Interpretations of Variants in Cancer) | SERPING1 (select a term) |
intoGen | SERPING1 |
Cancer3D | SERPING1(select the gene name) |
Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
---|
OMIM | 106100 106100 120790 606860 |
Orphanet | 23782 14624 14623 |
DisGeNET | SERPING1 |
Medgen | SERPING1 |
Genetic Testing Registry | SERPING1
|
NextProt | P05155 [Medical] |
GENETests | SERPING1 |
Target Validation | SERPING1 |
Huge Navigator |
SERPING1 [HugePedia] |
ClinGen | SERPING1 |
| Clinical trials, drugs, therapy |
---|
MyCancerGenome | SERPING1 |
Protein Interactions : CTD | |
Pharm GKB Gene | PA35029 |
Pharos | P05155 |
Clinical trial | SERPING1 |
| Miscellaneous |
---|
canSAR (ICR) | SERPING1 (select the gene name) |
Harmonizome | SERPING1 |
DataMed Index | SERPING1 |
| Probes |
---|
| Litterature |
---|
PubMed | 202 Pubmed reference(s) in Entrez |
GeneRIFs | Gene References Into Functions (Entrez) |
EVEX | SERPING1 |