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3145 HMBS

3145

HMBS

hydroxymethylbilane synthase

protein-coding

Homo sapiens

基因描述

Type Description
Definition hydroxymethylbilane synthase

研究结论

Date Results Publications
2020-07-04 11:40:00 Mount Sinai Porphyrias Diagnostic Laboratory diagnosed 315 unrelated Acute Intermittent Porphyria individuals with HMBS mutations, including 46 previously unreported mutations. 30385147
2020-06-06 11:07:00 Identified 40 novel HMBS mutations in unrelated individuals with acute intermittent porphyria (AIP); all mutants had less than 5% of expressed wildtype activity, except for c.1039G>C (p.A347P), which had 51% residual HMBS activity. Mutations near the active site or at the dimerization interface resulted in stably expressed proteins, while most that altered surface residues resulted in unstable protein. 30740734
2020-02-08 11:29:00 To investigate the dramatically different manifestations, knock-in mice with human homozygous dominant-Acute intermittent porphyria (HD-AIP) missense mutations c.500G>A (p.Arg167Glu) or c.518_519GC>AG (p.Arg173Glu), designated R167Q or R173Q mice, respectively, were generated and compared with the previously established T1/T2 mice with ~30% residual HMBS activity and the heterozygous AIP phenotype 30615115
2019-10-26 12:18:00 Using two bioinformatics pipelines for analysis of RNA fingerprints we identified significant effects of E. coli on the mRNAs HMBS, ATP2C1 and LRCH4. To see whether these three proteins were present in platelets and were influenced by the bacteria, we analysed HMBS, ATP2C1 and LRCH4 in platelet lysates and releasates by Western blot and ELISA. 30385858
2019-06-22 11:56:00 In the present study, we identified four HMBS gene mutations affecting the ubiquitous isoform of porphobilinogen deaminase (PBGD) and established a dPCR protocol which would be able to detect the different transcripts of this gene. 30201327

名称对应

Type IDs
Synonymous PBG-D, PBGD, PORC, UPS
Gene
UniProtKB-ID: HEM3_HUMAN
UniprotKB: P08397
UniParc: UPI000012C47A, UPI000002AAF6, UPI0000228D66, UPI000047C874
EMBL: AK131072, AP003392, BC000520, AP003391, X04217, CH471065, BC019323, AK000628, M95623, BC008149, AK290275, S60381, X04808, X68018
Ensembl: ENSG00000256269
KO: hsa:3145
Nucleutide sequences
EMBL-CDS: AAH19323.1, CAA27801.1, EAW67449.1, CAA48156.1, EAW67447.1, AAA60030.1, CAA28499.1, AAC60602.1, AAH00520.1, AAH08149.1, BAF82964.1, EAW67450.1, AAA60029.1
Ensembl_TRS: ENST00000537841, ENST00000544387, ENST00000542729, ENST00000652429, ENST00000392841, ENST00000648374
Protein sequencees
Ensembl_PRO: ENSP00000376584, ENSP00000443058, ENSP00000497255, ENSP00000498786, ENSP00000444730, ENSP00000438424
RefSeq: NP_001245137.1, NP_001019553.1, XP_005271589.1, NP_001245138.1, XP_005271588.1, NP_000181.2, XP_016873118.1, XP_011541098.1, XP_005271590.1, XP_024304228.1
Others
UniRef100: UniRef100_P08397
UniRef90: UniRef90_P08397
UniRef50: UniRef50_P08397
UniGene: Hs.82609
CCDS: CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1

全选

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