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Diminuto (human)

Overview Diminuto the enzyme 3-beta-hydroxysterol delta-24-reductase (DHCR24), a member of the flavin adenine dinucleotide (FAD)-dependent oxidoreductases, catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. Highly expressed in brain and adrenal gland with moderate expression in liver, lung, spleen, prostate and spinal cord. Low expression in heart, uterus and prostate. Undetectable in blood cells. Overexpressed in the adenoma tissue of patients with Cushing's syndrome. May be involved in the molecular events of adrenocortical tumorigenesis by facilitating steroid synthesis and cell growth. Note: This description may include information from UniProtKB. Protein type: Oxidoreductase; Membrane protein, integral; Lipid Metabolism - steroid biosynthesis; EC 1.3.1.-; EC 1.3.1.72 Cellular Component: Golgi membrane; endoplasmic reticulum membrane; cytoskeleton; endoplasmic reticulum; integral to membrane; cytosol; nucleus Molecular Function: UDP-N-acetylmuramate dehydrogenase activity; enzyme binding; peptide antigen binding; FAD binding; oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor; delta24-sterol reductase activity Biological Process: skin development; tissue development; apoptosis; negative regulation of caspase activity; cholesterol biosynthetic process; membrane organization and biogenesis; negative regulation of cell proliferation; protein localization; amyloid precursor protein catabolic process; Ras protein signal transduction; male genitalia development; response to oxidative stress; cell cycle arrest; plasminogen activation; negative regulation of apoptosis Reference #:  Q15392 (UniProtKB) Alt. Names/Synonyms: 24-dehydrocholesterol reductase; 3 beta-hydroxysterol delta 24-reductase; 3-beta-hydroxysterol delta-24-reductase; DCE; desmosterol-to-cholesterol enzyme; DHC24; DHCR24; Diminuto/dwarf1 homolog; KIAA0018; Nbla03646; seladin 1; Seladin-1; SELADIN1; selective AD indicator 1 Gene Symbols: DHCR24 Molecular weight: 60,101 Da Basal Isoelectric point: 8.42  Predict pI for various phosphorylation states Protein-Specific Antibodies or siRNAs from Cell Signaling Technology®

Select Structure to View Below Diminuto

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	Modification Sites and Domains	Show Modification Legend
Click here to view phosphorylation modifications only

	Modification Sites in Parent Protein, Orthologs, and Isoforms	Show Modification Legend

SS  SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.	MS  MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.			human
0	1		K76-u	QRVRDIQkQVREWKE
0	2		T110-p	RVGKYKKtHKNIMIN
0	2		K254-u	GLEAICAkFTHESQR
0	1		Y299-p	KLNSIGNyykPWFFK
0	1		Y300-p	LNSIGNyykPWFFKH
0	1		K301-u	NSIGNyykPWFFKHV
0	10		K313-u	KHVENYLkTNREGLE
0	1		Y321-p	TNREGLEyIPLRHYY
0	3		K367-u	PPKISLLkLTQGEtL
0	1		T373-p	LkLTQGEtLRkLYEQ
0	4		K376-u	TQGEtLRkLYEQHHV
0	8		K446-u	AYGEPRVkHFEARSC
0	3		K492-u	FDGSLYHkLREkLGC
0	2		E495	SLYHkLREkLGCQDA
0	23		K496-u	LYHkLREkLGCQDAF
0	12		Y507-p	QDAFPEVyDkICkAA
0	2		K509-u	AFPEVyDkICkAARH
0	1		K512-u	EVyDkICkAARH___

	mouse
K76	QRVRDIQKQVREWKE
T110	RVGKYKKTHKNIMIN
K254-u	GLEAICEkFTRESQR
Y299	KLNSIGSYYKPWFFK
Y300	LNSIGSYYKPWFFKH
K301	NSIGSYYKPWFFKHV
K313-u	KHVENYLkTNREGLE
Y321	TNREGLEYIPLRHYY
K367-u	PPKISLLkLTQGETL
T373	LkLTQGETLRkLYEQ
K376-u	TQGETLRkLYEQHHV
K446-u	AYGEPRVkHFEARSC
K492-u	FDGSLYHkLRkQLGC
K495-u	SLYHkLRkQLGCQDA
Q496	LYHkLRkQLGCQDAF
Y507	QDAFPEVYDkICKAA
K509-u	AFPEVYDkICKAARH
K512	EVYDkICKAARH___

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