SERPING1 (serpin family G member 1)

2016-08-01  

Identity

HGNC
SERPING1
LOCATION
11q12.1
LOCUSID
710
ALIAS
C1IN,C1INH,C1NH,HAE1,HAE2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 710
MIM: 606860
HGNC: 1228
Ensembl: ENSG00000149131

Variants:

dbSNP: 710
ClinVar: 710
TCGA: ENSG00000149131
COSMIC: SERPING1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149131ENST00000278407P05155
ENSG00000149131ENST00000278407E9KL26
ENSG00000149131ENST00000340687H9KV48
ENSG00000149131ENST00000378323P05155
ENSG00000149131ENST00000378324P05155
ENSG00000149131ENST00000378324A0A348GSH7
ENSG00000149131ENST00000403558E9PGN7
ENSG00000149131ENST00000405496B5MCB9
ENSG00000149131ENST00000457869C9JZJ9
ENSG00000149131ENST00000528996H0YCA1
ENSG00000149131ENST00000531133E9PK97
ENSG00000149131ENST00000531797E9PK97
ENSG00000149131ENST00000619430A0A087WUD9

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
PertussisKEGGko05133
PertussisKEGGhsa05133
HemostasisREACTOMER-HSA-109582
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Response to elevated platelet cytosolic Ca2+REACTOMER-HSA-76005
Platelet degranulationREACTOMER-HSA-114608
Formation of Fibrin Clot (Clotting Cascade)REACTOMER-HSA-140877
Intrinsic Pathway of Fibrin Clot FormationREACTOMER-HSA-140837

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
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
bone marrow

References

Pubmed IDYearTitleCitations
188422942008Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study.65
179087692007Genetic polymorphisms in immunoresponse genes TNFA, IL6, IL10, and TLR4 are associated with recurrent acute otitis media.48
155964032005The pathophysiology of hereditary angioedema.32
206286242010Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".29
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
205322272010Human complement regulators C4b-binding protein and C1 esterase inhibitor interact with a novel outer surface protein of Borrelia recurrentis.25
216951232011Bordetella pertussis autotransporter Vag8 binds human C1 esterase inhibitor and confers serum resistance.25
145689562003Complement regulatory protein C1 inhibitor binds to selectins and interferes with endothelial-leukocyte adhesion.22
191694112009Common variation in the SERPING1 gene is not associated with age-related macular degeneration in two independent groups of subjects.20
191694112009Common variation in the SERPING1 gene is not associated with age-related macular degeneration in two independent groups of subjects.20

Citation

Dessen P

SERPING1 (serpin family G member 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-08-01

Online version: http://atlasgeneticsoncology.org/gene/55836/serping1