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Protein Page:
Diminuto (human)
p Phosphorylation
ac Acetylation
me Methylation
m1 Mono-methylation
m2 Di-methylation
m3 Tri-methylation
ub Ubiquitylation
sm Sumoylation
ne Neddylation
gl O-GlcNAc
ga O-GalNAc
pa Palmitoylation
ad Adenylation
sn S-Nitrosylation
ca Caspase cleavage
sc Succinylation

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: EC 1.3.1.72; Membrane protein, integral; Oxidoreductase; Lipid Metabolism - steroid biosynthesis
Chromosomal Location of Human Ortholog: 1p32.3
Cellular Component: cytoskeleton; cytosol; endoplasmic reticulum; endoplasmic reticulum membrane; Golgi membrane; integral to membrane; membrane; nucleus
Molecular Function: delta24(24-1) sterol reductase activity; delta24-sterol reductase activity; enzyme binding; FAD binding; oxidoreductase activity, acting on CH-OH group of donors; oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor; peptide antigen binding
Biological Process: amyloid precursor protein catabolic process; apoptosis; cell cycle arrest; cholesterol biosynthetic process; cholesterol biosynthetic process via desmosterol; cholesterol biosynthetic process via lathosterol; male genitalia development; negative regulation of apoptosis; negative regulation of caspase activity; negative regulation of cell proliferation; plasminogen activation; protein localization; Ras protein signal transduction; response to hormone stimulus; response to oxidative stress; skin development; tissue development
Disease: Desmosterolosis
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® Total Proteins
Select Structure to View Below

Diminuto

Protein Structure Not Found.


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Sites Implicated In
enzymatic activity, induced: T110‑p, Y299‑p, Y507‑p
protein stabilization: Y299‑p, Y300‑p

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
 

Show Multiple Sequence Alignment


 LTP 

LTP: 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.


 HTP 

HTP: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 K76‑ub QRVRDIQkQVREWKE
0 1 K87‑ub EWKEQGSkTFMCTGR
1 2 T110‑p RVGKYKKtHKNIMIN
0 1 Y180‑p IESSSHKyGLFQHIC
0 1 T188‑p GLFQHICtAyELVLA
0 1 Y190‑p FQHICtAyELVLADG
0 1 S198‑p ELVLADGsFVRCTPS
0 3 K254‑ub GLEAICAkFTHESQR
1 1 Y299‑p KLNSIGNyykPWFFK
1 1 Y300‑p LNSIGNyykPWFFKH
0 1 K301‑ub NSIGNyykPWFFKHV
0 1 K313 KHVENYLKTNREGLE
0 11 K313‑ub KHVENYLkTNREGLE
0 1 Y321‑p TNREGLEyIPLRHYY
0 4 K367‑ub PPKISLLkLTQGEtL
0 1 T373‑p LkLTQGEtLRkLYEQ
0 4 K376‑ub TQGEtLRkLYEQHHV
0 8 K446‑ub AYGEPRVkHFEARSC
0 1 K459‑ub SCMRQLEkFVRSVHG
0 3 K492‑ub FDGSLYHkLREkLGC
0 2 E495 SLYHkLREkLGCQDA
0 24 K496‑ub LYHkLREkLGCQDAF
1 13 Y507‑p QDAFPEVyDkICkAA
0 2 K509‑ub AFPEVyDkICkAARH
0 1 K512‑ub EVyDkICkAARH___
  mouse

 
K76 QRVRDIQKQVREWKE
K87 EWKEQGSKTFMCTGR
T110 RVGKYKKTHKNIMIN
Y180 IESSSHKYGLFQHIC
T188 GLFQHICTAYELILA
Y190 FQHICTAYELILADG
S198 ELILADGSFVRCTPS
K254‑ub GLEAICEkFTRESQR
Y299 KLNSIGSYYKPWFFK
Y300 LNSIGSYYKPWFFKH
K301 NSIGSYYKPWFFKHV
K313‑ac KHVENYLkTNREGLE
K313‑ub KHVENYLkTNREGLE
Y321 TNREGLEYIPLRHYY
K367‑ub PPKISLLkLTQGETL
T373 LkLTQGETLRkLYEQ
K376‑ub TQGETLRkLYEQHHV
K446‑ub AYGEPRVkHFEARSC
K459 SCMRQLEKFVRSVHG
K492‑ub FDGSLYHkLRkQLGC
K495‑ub SLYHkLRkQLGCQDA
Q496 LYHkLRkQLGCQDAF
Y507 QDAFPEVYDkICKAA
K509‑ub AFPEVYDkICKAARH
K512 EVYDkICKAARH___
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