Identity
HGNC
LOCATION
1q25.1
LOCUSID
ALIAS
AT3,AT3D,ATIII,ATIII-R2,ATIII-T1,ATIII-T2,THPH7
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 462
MIM: 107300
HGNC: 775
Ensembl: ENSG00000117601
Variants:
dbSNP: 462
ClinVar: 462
TCGA: ENSG00000117601
COSMIC: SERPINC1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000117601 | ENST00000367698 | P01008 |
| ENSG00000117601 | ENST00000367698 | A0A024R944 |
| ENSG00000117601 | ENST00000617423 | Q8TCE1 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA165290929 | ethinyl estradiol / norelgestromin | Chemical | LabelAnnotation | associated | |||
| PA165981594 | eltrombopag | Chemical | LabelAnnotation | associated | |||
| PA166179849 | avatrombopag | Chemical | LabelAnnotation | associated | |||
| PA166182748 | lusutrombopag | Chemical | LabelAnnotation | associated | |||
| PA166190221 | estradiol / progesterone | Chemical | LabelAnnotation | associated | |||
| PA443622 | Carcinoma, Non-Small-Cell Lung | Disease | ClinicalAnnotation | associated | PD | 31616045 | |
| PA445846 | Thrombocytopenia | Disease | ClinicalAnnotation | associated | PD | 31616045 | |
| PA448803 | carboplatin | Chemical | ClinicalAnnotation | associated | PD | 31616045 | |
| PA449748 | gemcitabine | Chemical | ClinicalAnnotation | associated | PD | 31616045 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38104950 | 2024 | Clinical and functional characterization of rare compound heterozygous mutations in the SERPINC1 gene causing severe thrombophilia. | 0 |
| 38448020 | 2024 | [Phenotypic and genetic analysis of a Chinese pedigree affected with Hereditary antithrombin deficiency due to a novel variant of SERPINC1 gene]. | 0 |
| 38104950 | 2024 | Clinical and functional characterization of rare compound heterozygous mutations in the SERPINC1 gene causing severe thrombophilia. | 0 |
| 38448020 | 2024 | [Phenotypic and genetic analysis of a Chinese pedigree affected with Hereditary antithrombin deficiency due to a novel variant of SERPINC1 gene]. | 0 |
| 36056630 | 2023 | Native and activated antithrombin inhibits TMPRSS2 activity and SARS-CoV-2 infection. | 12 |
| 36526880 | 2023 | Identification and functional analysis of three novel genetic variants resulting in premature termination codons in three unrelated patients with hereditary antithrombin deficiency. | 0 |
| 36655246 | 2023 | [Case report of pulmonary embolism after balloon pulmonary angioplasty triggered by decreased antithrombin Ⅲ activity in a patient with chronic thromboembolic disease]. | 0 |
| 37021543 | 2023 | Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect. | 0 |
| 37201530 | 2023 | Antithrombin Deficiency Is Associated with Prothrombotic Plasma Fibrin Clot Phenotype. | 1 |
| 37384805 | 2023 | Antithrombin Deficiency: Frequency in Patients with Thrombosis and Thrombophilic Families. | 1 |
| 37976729 | 2023 | A novel mutation p.Met1Val in SERPINC1 gene causes hereditary antithrombin deficiency in a Chinese family with thrombotic disease. | 0 |
| 36056630 | 2023 | Native and activated antithrombin inhibits TMPRSS2 activity and SARS-CoV-2 infection. | 12 |
| 36526880 | 2023 | Identification and functional analysis of three novel genetic variants resulting in premature termination codons in three unrelated patients with hereditary antithrombin deficiency. | 0 |
| 36655246 | 2023 | [Case report of pulmonary embolism after balloon pulmonary angioplasty triggered by decreased antithrombin Ⅲ activity in a patient with chronic thromboembolic disease]. | 0 |
| 37021543 | 2023 | Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect. | 0 |
Citation
Dessen P
SERPINC1 (serpin family C member 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/45637/serpinc1-(serpin-family-c-member-1)
