Property Summary

NCBI Gene PubMed Count 164
PubMed Score 1233.58
PubTator Score 984.86

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
lung carcinoma 2844 9.70702188428672E-40
juvenile dermatomyositis 1189 6.08871498048567E-16
non-small cell lung cancer 2798 3.85661818679097E-14
glioblastoma multiforme 347 1.40970393009064E-13
pilocytic astrocytoma 3086 5.69991568942994E-12
lung adenocarcinoma 2714 1.73091526381822E-11
ovarian cancer 8492 9.55321860926663E-11
posterior fossa group A ependymoma 1511 1.81002501086543E-10
malignant mesothelioma 3163 3.53057549878865E-10
pituitary cancer 1972 1.21752242080295E-8
breast carcinoma 1614 1.48667212251372E-8
Duchenne muscular dystrophy 602 1.1142219924054E-7
lung cancer 4473 4.96739359448512E-6
limb girdle muscular dystrophy 2A 156 1.99227535923079E-5
ulcerative colitis 2087 2.11128670531547E-5
adrenocortical carcinoma 1427 6.38970015178522E-5
cystic fibrosis 1670 7.89467785061619E-5
psoriasis 6685 1.12610081487477E-4
fibroadenoma 557 2.10190649538692E-4
intraductal papillary-mucinous neoplasm (IPMN) 3289 2.11996253412791E-4
acute quadriplegic myopathy 1157 2.29724079167178E-4
ductal carcinoma in situ 1745 3.7667219760199E-4
invasive ductal carcinoma 2950 7.0158038882382E-4
atypical teratoid / rhabdoid tumor 4369 9.96667136205741E-4
sarcoidosis 368 0.00105292914628597
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00211857331647135
adult high grade glioma 2148 0.00307474117437754
tuberculosis 1563 0.00368839144297136
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.0060500609606344
systemic lupus erythematosus 172 0.00883126128978718
sonic hedgehog group medulloblastoma 1482 0.010056409514431
autosomal dominant Emery-Dreifuss muscular dystrophy 499 0.0101651510735065
subependymal giant cell astrocytoma 2287 0.0121464776328524
gastric carcinoma 832 0.0132325079737081
Breast cancer 3099 0.0169422735609289
chronic kidney disease 90 0.018391824385903
pancreatic ductal adenocarcinoma liver metastasis 1795 0.0204637640856599
dermatomyositis 967 0.0209060945627951
primitive neuroectodermal tumor 3031 0.0235300783429961
Multiple Sclerosis 498 0.0389414715738588
Polycystic Ovary Syndrome 335 0.045837463686056
Disease Target Count Z-score Confidence
Hereditary angioedema 4 0.0 5.0

Expression

  Differential Expression (41)

Disease log2 FC p
systemic lupus erythematosus 1.400 0.009
malignant mesothelioma -6.300 0.000
psoriasis -1.100 0.000
glioblastoma multiforme 1.700 0.000
posterior fossa group A ependymoma 2.400 0.000
atypical teratoid / rhabdoid tumor 1.500 0.001
primitive neuroectodermal tumor 1.200 0.024
Duchenne muscular dystrophy 1.679 0.000
limb girdle muscular dystrophy 2A 1.305 0.000
autosomal dominant Emery-Dreifuss muscul... 1.233 0.010
juvenile dermatomyositis 2.189 0.000
acute quadriplegic myopathy 1.375 0.000
adrenocortical carcinoma -2.357 0.000
chronic kidney disease 1.300 0.018
tuberculosis 2.500 0.004
pancreatic ductal adenocarcinoma liver m... -2.161 0.020
non-small cell lung cancer -1.391 0.000
intraductal papillary-mucinous adenoma (... -2.600 0.002
intraductal papillary-mucinous carcinoma... -2.700 0.006
intraductal papillary-mucinous neoplasm ... -3.200 0.000
lung cancer -2.700 0.000
fibroadenoma -1.300 0.000
Multiple Sclerosis 1.600 0.039
cystic fibrosis 2.500 0.000
adult high grade glioma 1.600 0.003
pilocytic astrocytoma 2.800 0.000
sonic hedgehog group medulloblastoma 1.100 0.010
sarcoidosis 1.400 0.001
subependymal giant cell astrocytoma 1.812 0.012
lung adenocarcinoma -1.800 0.000
Breast cancer -1.400 0.017
Polycystic Ovary Syndrome 1.600 0.046
lung carcinoma -3.300 0.000
breast carcinoma -1.100 0.000
gastric carcinoma 1.500 0.013
ductal carcinoma in situ -1.500 0.000
invasive ductal carcinoma -1.700 0.001
ulcerative colitis 2.300 0.000
ovarian cancer -3.700 0.000
pituitary cancer -2.700 0.000
dermatomyositis 1.200 0.021

Synonym

Accession P05155 A6NMU0 A8KAI9 B2R6L5 B4E1F0 B4E1H2 Q16304 Q547W3 Q59EI5 Q7Z455 Q96FE0 Q9UC49 Q9UCF9 C1 Inh
Symbols C1IN
C1NH
HAE1
HAE2
C1INH

Gene

PDB

1M6Q   2OAY   5DU3   5DUQ  

  Ortholog (12)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG
Pig OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus EggNOG Inparanoid
Chicken OMA EggNOG
Anole lizard OMA EggNOG Inparanoid

 GWAS Trait (1)

 CSPA Cell Line (1)

Gene RIF (109)

PMID Text
26895475 This family-based study provides the first evidence that multiple amino acid substitutions in SERPING1 could influence Hereditary angioedema due to C1-inhibitor deficiency phenotype
26890881 the ratio of serum proteoglycan 4 to protease C1 inhibitor may be used for screening of early breast cancer.
26812872 This study represents the first Brazilian HAE cohort evaluated for SERPING1 gene mutations and it introduces the possibility to perform genetic analysis in case of need for differential diagnosis.
26782794 Enhancement of C1INH activity was not observed in the refractory septic shock patients, and the C1INH quantitative values were low.
26535898 Novel mutations in the SERPING1 gene are linked to Hereditary Angioedema.
26476955 Suggest that endogenous C1-inhibitor is likely involved in the regulation of complement activity in the myocardium following acute myocardial infarction.
26371246 The levels of MASP-1 and MASP-1/C1-INH complexes are reduced in HAE patients compared with controls. Both MASP-1 and MASP-1/C1-INH complexes are related to the degree of complement C4 consumption
26347576 Studied human C1INH and found at therapeutically relevant doses, it blocks malaria parasite invasion and cytoadhesion.
26154504 SERPING1 mutations in Norwegian patients with Hereditary angioedema with C1 inhibitor deficiency, are reported.
25800435 SERPING1 is not a major genetic component of AMD or PCV in East Asians but is a genetic risk factor for AMD in Caucasians, providing evidence for an ethnic diversity in the genetic etiology of AMD.
More...

AA Sequence

MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNS      1 - 70
TTNSATKITANTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEA     71 - 140
VLGDALVDFSLKLYHAFSAMKKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILSYPKDFTCVHQAL    141 - 210
KGFTTKGVTSVSQIFHSPDLAIRDTFVNASRTLYSSSPRVLSNNSDANLELINTWVAKNTNNKISRLLDS    211 - 280
LPSDTRLVLLNAIYLSAKWKTTFDPKKTRMEPFHFKNSVIKVPMMNSKKYPVAHFIDQTLKAKVGQLQLS    281 - 350
HNLSLVILVPQNLKHRLEDMEQALSPSVFKAIMEKLEMSKFQPTLLTLPRIKVTTSQDMLSIMEKLEFFD    351 - 420
FSYDLNLCGLTEDPDLQVSAMQHQTVLELTETGVEAAAASAISVARTLLVFEVQQPFLFVLWDQQHKFPV    421 - 490
FMGRVYDPRA                                                                491 - 500
//

Text Mined References (175)

PMID Year Title
26895475 2016 Hereditary angioedema in a Jordanian family with a novel missense mutation in the C1-inhibitor N-terminal domain.
26890881 2016 Unmasking Heavily O-Glycosylated Serum Proteins Using Perchloric Acid: Identification of Serum Proteoglycan 4 and Protease C1 Inhibitor as Molecular Indicators for Screening of Breast Cancer.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26812872 2016 New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema.
26782794 2016 Serial change of C1 inhibitor in patients with sepsis--a preliminary report.
26535898 2015 Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association.
26476955 Endogenous C1-inhibitor production and expression in the heart after acute myocardial infarction.
26371246 2015 The Levels of the Lectin Pathway Serine Protease MASP-1 and Its Complex Formation with C1 Inhibitor Are Linked to the Severity of Hereditary Angioedema.
26347576 2016 Human C1-Inhibitor Suppresses Malaria Parasite Invasion and Cytoadhesion via Binding to Parasite Glycosylphosphatidylinositol and Host Cell Receptors.
26154504 2015 A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1.
More...