Type | Description |
---|---|
Definition | EBP cholestenol delta-isomerase |
Date | Results | Publications |
---|---|---|
2021-02-02 13:23:00 | Thermostabilization of by Consensus Mutation: A for a Fungal Delta8-7 Sterol Isomerase. | 32105736 |
2020-07-11 11:50:00 | The human sterol delta(8)-Delta(7) isomerase was expressed in P. pastoris to 200mgL-1. The membrane protein enzyme could be solubilized readily in dodecyl maltoside. The solubilized protein displayed a symmetric peak on size exclusion chromatography. | 31381990 |
2019-06-22 11:13:00 | EBP adopts an unreported fold involving five transmembrane-helices (TMs) that creates a membrane cavity presenting a pharmacological binding site that accommodates multiple different ligands. Mutagenesis studies on specific residues abolish the isomerase activity and decrease the multidrug binding capacity. | 31165728 |
2015-08-22 11:12:00 | This study expands the current phenotypic spectrum of males with hypomorphic EBP mutations and supports to the hypothesis that there exists an X-linked recessive entity independent of CDPX2. | 24700572 |
2015-05-16 10:31:00 | Mutation analysis revealed a heterozygous novel missense mutation, c.204G>T (p.W68C), in exon 2. | 24915996 |
Type | IDs |
---|---|
Synonymous | CDPX2, CHO2, CPX, CPXD, MEND |
Gene |
UniProtKB-ID:
EBP_HUMAN,
A0A024QYX0_HUMAN
UniprotKB:
Q15125,
A0A024QYX0
UniParc:
UPI000000DB82
EMBL:
CH471224,
CR542094,
KJ921656,
Z37986,
BC046501,
BC001549,
AF196969,
CR456815,
BC001572,
AF196972
Ensembl:
ENSG00000147155
KO:
hsa:10682
|
Nucleutide sequences |
EMBL-CDS:
AAH01572.1,
CAG33096.1,
EAW50773.1,
AAH01549.1,
CAA86068.1,
CAG46891.1,
AAH46501.1,
AIL31429.1,
EAW50775.1
Gene_ORFName:
hCG_19812
Ensembl_TRS:
ENST00000495186
|
Protein sequencees |
Ensembl_PRO:
ENSP00000417052
RefSeq:
NP_006570.1
|
Others |
UniRef100:
UniRef100_Q15125
UniRef90:
UniRef90_Q15125
UniRef50:
UniRef50_Q15125
UniGene:
Hs.30619
CCDS:
CCDS14300.1
|
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Refseq |
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