Property Summary

NCBI Gene PubMed Count 105
Grant Count 41
R01 Count 9
Funding $13,589,163.91
PubMed Score 543.71
PubTator Score 390.61

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
malignant mesothelioma 1.500 0.000
astrocytic glioma -1.500 0.003
ependymoma -1.600 0.002
oligodendroglioma -1.700 0.001
psoriasis -1.200 0.001
osteosarcoma -4.593 0.000
atypical teratoid / rhabdoid tumor 1.200 0.000
glioblastoma 1.100 0.000
medulloblastoma, large-cell 1.600 0.000
lung cancer 1.600 0.001
lung adenocarcinoma 1.100 0.000

Gene RIF (46)

PMID Text
26228342 A new mutation in intron 2 (IVS2-2Ag-->G) was identified in a Chinese family with acute intermittent porphyria.
26062020 ALAS1 mRNA and activity were elevated approximately ~3- and 5-fold, and HMB synthase activity was approximately half-normal (~42%)
25923088 Novel porphobilinogen deaminase gene mutations have been described in Polish patients with non-erythroid acute intermittent porphyria.
25870942 we report a novel PBGD missense mutation.
25703257 study of hydroxymethylbilane synthase mutations and polymorphisms in Brazilian families with acute intermittent porphyria
25445397 in the hepatic cancer tissue of two acute porphyria patients, somatic second-hit mutations result in nearly complete inactivation of PPOX and HMBS
25389600 Letter/Case Report: R173W mutation of HMBS gene can cause rhabdomyolysis in patients with variant acute intermittent porphyria.
23815679 Conformational stability and activity of hydroxymethylbilane synthase (HMSB) and the acute intermittent porphyria K132N and V215E HMSB mutations.
23811755 Findings indicate that using TATA-binding protein (TBP) alone or in combination with hydroxymethylbilane synthase (HMBS) as endogenous controls could be a reliable method for normalizing qRT-PCR data in hepatoma cell lines treated with TNF-alpha.
22748422 One small deletion and six nucleotide substitutions within the 5'UTR and the housekeeping promoter of HMBS gene are found responsible for the non-erythroid form of acute intermittent porphyria.
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AA Sequence

MSGNGNAAATAEENSPKMRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSK      1 - 70
IGEKSLFTKELEHALEKNEVDLVVHSLKDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEK     71 - 140
SVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHNRVGQILHPEE    141 - 210
CMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHLEGGCSVPVAVHTAMKDGQLYLTG    211 - 280
GVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNI    281 - 350
LDVARQLNDAH                                                               351 - 361
//

Text Mined References (114)

PMID Year Title
26228342 2015 A novel mutation, IVS2-2AgG, associated with acute intermittent porphyria in a Chinese family.
26062020 2015 Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver.
25923088 Porphobilinogen deaminase gene mutations in Polish patients with non-erythroid acute intermittent porphyria.
25870942 2015 A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria.
25703257 2015 Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria.
25445397 2015 Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
25389600 2015 R173W mutation of hydroxymethylbilane synthetase is associated with acute intermittent porphyria complicated with rhabdomyolysis: the first report.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23815679 2013 Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.
23811755 2013 Evaluation of potential reference genes for qRT-PCR studies in human hepatoma cell lines treated with TNF-?.
More...