SERPINC1 (serpin family C member 1)

2007-02-01  

Identity

HGNC
SERPINC1
LOCATION
1q25.1
LOCUSID
462
ALIAS
AT3,AT3D,ATIII,ATIII-R2,ATIII-T1,ATIII-T2,THPH7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 462
MIM: 107300
HGNC: 775
Ensembl: ENSG00000117601

Variants:

dbSNP: 462
ClinVar: 462
TCGA: ENSG00000117601
COSMIC: SERPINC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117601ENST00000367698P01008
ENSG00000117601ENST00000367698A0A024R944
ENSG00000117601ENST00000617423Q8TCE1

Expression (GTEx)

0
500
1000
1500
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Complement and coagulation cascadesKEGGhsa04610
HemostasisREACTOMER-HSA-109582
Formation of Fibrin Clot (Clotting Cascade)REACTOMER-HSA-140877
Intrinsic Pathway of Fibrin Clot FormationREACTOMER-HSA-140837
Common Pathway of Fibrin Clot FormationREACTOMER-HSA-140875

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA165290929ethinyl estradiol / norelgestrominChemicalLabelAnnotationassociated
PA165981594eltrombopagChemicalLabelAnnotationassociated
PA166179849avatrombopagChemicalLabelAnnotationassociated
PA166182748lusutrombopagChemicalLabelAnnotationassociated
PA166190221estradiol / progesteroneChemicalLabelAnnotationassociated
PA443622Carcinoma, Non-Small-Cell LungDiseaseClinicalAnnotationassociatedPD31616045
PA445846ThrombocytopeniaDiseaseClinicalAnnotationassociatedPD31616045
PA448803carboplatinChemicalClinicalAnnotationassociatedPD31616045
PA449748gemcitabineChemicalClinicalAnnotationassociatedPD31616045

References

Pubmed IDYearTitleCitations
189233942008Crystal structure of a stable dimer reveals the molecular basis of serpin polymerization.94
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
180566772008Protein biomarker identification in the CSF of patients with CNS lymphoma.52
206738682010A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).36
204524822010Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes.26
261080652015Antithrombin III/SerpinC1 insufficiency exacerbates renal ischemia/reperfusion injury.25
185507042008Purification from human milk of matriptase complexes with secreted serpins: mechanism for inhibition of matriptase other than HAI-1.24
145322672003Localization of an antithrombin exosite that promotes rapid inhibition of factors Xa and IXa dependent on heparin activation of the serpin.21
189548962009Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis.21
189548962009Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis.21

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