(data stored in ACNUC603 zone)

HOGENOM: HSX_PE795

ID   HSX_PE795                            STANDARD;      PRT;   230 AA.
AC   HSX_PE795; Q15125; Q6FGL3; Q6IBI9;
DT   00-JAN-0000 (Rel. 1, Created)
DT   00-JAN-0000 (Rel. 2, Last sequence update)
DT   00-JAN-0000 (Rel. 3, Last annotation update)
DE   RecName: Full=3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase; EC=5.3.3
DE   5;AltName: Full=Cholestenol Delta-isomerase;AltName:
DE   Full=Delta(8)-Delta(7) sterol isomerase; Short=D8-D7 sterol
DE   isomerase;AltName: Full=Emopamil-binding protein; (HSX.PE795).
GN   Name=EBP;
OS   HOMO SAPIENS.
OC   Eukaryota; Metazoa; Eumetazoa; Bilateria; Coelomata; Deuterostomia;
OC   Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi;
OC   Sarcopterygii; Tetrapoda; Amniota; Mammalia; Theria; Eutheria;
OC   Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini;
OC   Hominoidea; Hominidae; Homininae; Homo.
OX   NCBI_TaxID=9606;
RN   [0]
RP   -.;
RG   -.;
RL   -.;
CC   -!- SEQ. DATA ORIGIN: Translated from the HOGENOM CDS HSX.PE795.
CC       Homo sapiens chromosome X GRCh37  sequence 1..155260560 annotated by
CC       Ensembl
CC   -!- ANNOTATIONS ORIGIN:EBP_HUMAN
CC   -!- FUNCTION: Catalyzes the conversion of Delta(8)-sterols to their
CC       corresponding Delta(7)-isomers.
CC   -!- CATALYTIC ACTIVITY: 5-alpha-cholest-7-en-3-beta-ol = 5-alpha-
CC       cholest-8-en-3-beta-ol.
CC   -!- PATHWAY: Steroid biosynthesis; cholesterol biosynthesis.
CC   -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass
CC       membrane protein.
CC   -!- DISEASE: Defects in EBP are the cause of chondrodysplasia punctata
CC       X-linked dominant type 2 (CDPX2) [MIM:302960]; also known as
CC       Conradi-Hunermann-Happle syndrome. CDP is a clinically and
CC       genetically heterogeneous disorder characterized by punctiform
CC       calcification of the bones. The key clinical features of CDPX2 are
CC       chondrodysplasia punctata, linear ichthyosis, cataracts and short
CC       stature. CDPX2 is a rare disorder of defective cholesterol
CC       biosynthesis, biochemically characterized by an increased amount
CC       of 8-dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the
CC       plasma and tissues.
CC   -!- MISCELLANEOUS: Binds to the phenylalkylamine calcium-ion
CC       antagonist emopamil, an anti-ischemic drug.
CC   -!- SIMILARITY: Belongs to the EBP family.
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EBP";
CC   -!- GENE_FAMILY: HOG000204543 [ FAMILY / ALN / TREE ]
DR   HOGENOM:Homo_sapiens;ENSG00000147155;ENST00000495186;ENSP00000417052.
DR   EMBL; AF196969; - ;
DR   EMBL; AF196972; - ;
DR   EMBL; BC001549; - ;
DR   EMBL; BC001572; - ;
DR   EMBL; BC046501; - ;
DR   EMBL; CH471224; - ;
DR   EMBL; CR456815; - ;
DR   EMBL; CR542094; - ;
DR   EMBL; Z37986; - ;
DR   UniProtKB/Swiss-Prot; Q15125; Q6FGL3; Q6IBI9; -.
DR   EMBL; Z37986; CAA86068.1; -; mRNA.
DR   EMBL; CR456815; CAG33096.1; -; mRNA.
DR   EMBL; CR542094; CAG46891.1; -; mRNA.
DR   EMBL; AF196969; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AF196972; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471224; EAW50773.1; -; Genomic_DNA.
DR   EMBL; BC001549; AAH01549.1; -; mRNA.
DR   EMBL; BC001572; AAH01572.1; -; mRNA.
DR   EMBL; BC046501; AAH46501.1; -; mRNA.
DR   IPI; IPI00008599; -.
DR   PIR; B56122; B56122.
DR   RefSeq; NP_006570.1; NM_006579.2.
DR   UniGene; Hs.30619; -.
DR   ProteinModelPortal; Q15125; -.
DR   STRING; Q15125; -.
DR   PeptideAtlas; Q15125; -.
DR   PRIDE; Q15125; -.
DR   Ensembl; ENST00000495186; ENSP00000417052; ENSG00000147155.
DR   GeneID; 10682; -.
DR   KEGG; hsa:10682; -.
DR   UCSC; uc004djx.2; human.
DR   CTD; 10682; -.
DR   GeneCards; GC0XP046043; -.
DR   H-InvDB; HIX0203294; -.
DR   HGNC; HGNC:3133; EBP.
DR   HPA; HPA003130; -.
DR   MIM; 300205; gene.
DR   MIM; 302960; phenotype.
DR   neXtProt; NX_Q15125; -.
DR   Orphanet; 35173; X-linked dominant chondrodysplasia punctata.
DR   PharmGKB; PA27587; -.
DR   eggNOG; prNOG10454; -.
DR   GeneTree; ENSGT00530000063715; -.
DR   InParanoid; Q15125; -.
DR   OMA; PTWHILA; -.
DR   OrthoDB; EOG45490D; -.
DR   PhylomeDB; Q15125; -.
DR   BioCyc; MetaCyc:ENSG00000147155-MON; -.
DR   BRENDA; 5.3.3.5; 2681.
DR   Reactome; REACT_22258; Metabolism of lipids and lipoproteins.
DR   NextBio; 40611; -.
DR   ArrayExpress; Q15125; -.
DR   Bgee; Q15125; -.
DR   CleanEx; HS_EBP; -.
DR   Genevestigator; Q15125; -.
DR   GermOnline; ENSG00000147155; Homo sapiens.
DR   GO; GO:0005789; C:endoplasmic reticulum membrane; TAS:Reactome.
DR   GO; GO:0005887; C:integral to plasma membrane; TAS:ProtInc.
DR   GO; GO:0047750; F:cholestenol delta-isomerase activity; IEA:EC.
DR   GO; GO:0015238; F:drug transmembrane transporter activity; TAS:ProtInc.
DR   GO; GO:0004769; F:steroid delta-isomerase activity; TAS:Reactome.
DR   GO; GO:0004888; F:transmembrane receptor activity; TAS:ProtInc.
DR   GO; GO:0006695; P:cholesterol biosynthetic process; TAS:Reactome.
DR   GO; GO:0001501; P:skeletal system development; TAS:ProtInc.
DR   InterPro; IPR007905; EBP.
DR   PANTHER; PTHR14207; EBP; 1.
DR   Pfam; PF05241; EBP; 1.
DR   HOGENOMDNA; HSX.PE795; -.
KW   ENSG000001471551755old_1320000031; ENSP000004170527901old_1320000031;
KW   C9J719_HUMAN; C9JJ78_HUMAN; AF196969; AF196972; BC001549; BC001572;
KW   CH471224; CR456815; CR542094; Z37986;
KW   Acetylation; Cataract; Cholesterol biosynthesis; Complete proteome;
KW   Disease mutation; Dwarfism; Endoplasmic reticulum; Ichthyosis;
KW   Isomerase; Lipid synthesis; Membrane; Reference proteome;
KW   Steroid biosynthesis; Sterol biosynthesis; Transmembrane;
KW   Transmembrane helix.
SQ   SEQUENCE   230 AA;  UNKNOWN MW;  UNKNOWN CRC64;
     MTTNAGPLHP YWPQHLRLDN FVPNDRPTWH ILAGLFSVTG VLVVTTWLLS GRAAVVPLGT
     WRRLSLCWFA VCGFIHLVIE GWFVLYYEDL LGDQAFLSQL WKEYAKGDSR YILGDNFTVC
     METITACLWG PLSLWVVIAF LRQHPLRFIL QLVVSVGQIY GDVLYFLTEH RDGFQHGELG
     HPLYFWFYFV FMNALWLVLP GVLVLDAVKH LTHAQSTLDA KATKAKSKKN
//

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