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Q8VCH6

- DHC24_MOUSE

UniProt

Q8VCH6 - DHC24_MOUSE

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Protein

Delta(24)-sterol reductase

Gene

Dhcr24

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

Functioni

Catalyzes the reduction of the delta-24 double bond of sterol intermediates.By similarity

Catalytic activityi

5-alpha-cholest-7-en-3-beta-ol + NADP+ = 5-alpha-cholesta-7,24-dien-3-beta-ol + NADPH.

Cofactori

FADBy similarity

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei122 – 1232Cleavage; by caspaseSequence Analysis
Sitei383 – 3842Cleavage; by caspaseSequence Analysis

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi163 – 17513FADSequence AnalysisAdd
BLAST

GO - Molecular functioni

  1. delta24-sterol reductase activity Source: UniProtKB-EC
  2. enzyme binding Source: UniProtKB
  3. flavin adenine dinucleotide binding Source: InterPro
  4. oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor Source: MGI
  5. peptide antigen binding Source: UniProtKB
  6. UDP-N-acetylmuramate dehydrogenase activity Source: InterPro

GO - Biological processi

  1. amyloid precursor protein catabolic process Source: MGI
  2. cholesterol biosynthetic process Source: UniProtKB
  3. cholesterol metabolic process Source: MGI
  4. male genitalia development Source: MGI
  5. membrane organization Source: MGI
  6. negative regulation of apoptotic process Source: UniProtKB
  7. negative regulation of cell proliferation Source: Ensembl
  8. negative regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
  9. plasminogen activation Source: MGI
  10. protein localization Source: MGI
  11. Ras protein signal transduction Source: Ensembl
  12. response to hormone Source: Ensembl
  13. response to oxidative stress Source: UniProtKB
  14. skin development Source: UniProtKB
  15. sterol metabolic process Source: MGI
  16. tissue development Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Cholesterol biosynthesis, Cholesterol metabolism, Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis, Steroid metabolism, Sterol biosynthesis, Sterol metabolism

Keywords - Ligandi

FAD, Flavoprotein, NADP

Enzyme and pathway databases

ReactomeiREACT_208531. Cholesterol biosynthesis.
UniPathwayiUPA00063.

Names & Taxonomyi

Protein namesi
Recommended name:
Delta(24)-sterol reductase (EC:1.3.1.72)
Alternative name(s):
24-dehydrocholesterol reductase
3-beta-hydroxysterol delta-24-reductase
Gene namesi
Name:Dhcr24
Synonyms:Kiaa0018
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589: Chromosome 4

Organism-specific databases

MGIiMGI:1922004. Dhcr24.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini23 – 319LumenalSequence Analysis
Transmembranei32 – 5221HelicalSequence AnalysisAdd
BLAST
Topological domaini53 – 516464CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. cytoskeleton Source: Ensembl
  2. cytosol Source: Ensembl
  3. endoplasmic reticulum Source: UniProtKB
  4. Golgi apparatus Source: UniProtKB-KW
  5. integral component of membrane Source: UniProtKB-KW
  6. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222Sequence AnalysisAdd
BLAST
Chaini23 – 516494Delta(24)-sterol reductasePRO_0000320300Add
BLAST

Proteomic databases

MaxQBiQ8VCH6.
PaxDbiQ8VCH6.
PRIDEiQ8VCH6.

PTM databases

PhosphoSiteiQ8VCH6.

Expressioni

Gene expression databases

BgeeiQ8VCH6.
CleanExiMM_DHCR24.
GenevestigatoriQ8VCH6.

Interactioni

Protein-protein interaction databases

MINTiMINT-1858806.

Structurei

3D structure databases

ProteinModelPortaliQ8VCH6.
SMRiQ8VCH6. Positions 115-286.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini58 – 234177FAD-binding PCMH-typePROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 FAD-binding PCMH-type domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0277.
GeneTreeiENSGT00390000008338.
HOGENOMiHOG000243421.
HOVERGENiHBG051349.
InParanoidiQ8VCH6.
KOiK09828.
OMAiLPNNPGM.
OrthoDBiEOG7H7920.
PhylomeDBiQ8VCH6.
TreeFamiTF313170.

Family and domain databases

Gene3Di3.30.465.10. 1 hit.
InterProiIPR016169. CO_DH_flavot_FAD-bd_sub2.
IPR016166. FAD-bd_2.
IPR006094. Oxid_FAD_bind_N.
[Graphical view]
PfamiPF01565. FAD_binding_4. 1 hit.
[Graphical view]
SUPFAMiSSF56176. SSF56176. 1 hit.
PROSITEiPS51387. FAD_PCMH. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q8VCH6-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MEPAVSLAVC ALLFLLWVRV KGLEFVLIHQ RWVFVCLFLL PLSLIFDIYY
60 70 80 90 100
YVRAWVVFKL SSAPRLHEQR VRDIQKQVRE WKEQGSKTFM CTGRPGWLTV
110 120 130 140 150
SLRVGKYKKT HKNIMINLMD ILEVDTKKQI VRVEPLVSMG QVTALLNSIG
160 170 180 190 200
WTLPVLPELD DLTVGGLIMG TGIESSSHKY GLFQHICTAY ELILADGSFV
210 220 230 240 250
RCTPSENSDL FYAVPWSCGT LGFLVAAEIR IIPAKKYVKL RFEPVRGLEA
260 270 280 290 300
ICEKFTRESQ RLENHFVEGL LYSLDEAVIM TGVMTDDVEP SKLNSIGSYY
310 320 330 340 350
KPWFFKHVEN YLKTNREGLE YIPLRHYYHR HTRSIFWELQ DIIPFGNNPI
360 370 380 390 400
FRYLFGWMVP PKISLLKLTQ GETLRKLYEQ HHVVQDMLVP MKCMSQALHT
410 420 430 440 450
FQNDIHVYPI WLCPFILPSQ PGLVHPKGDE AELYVDIGAY GEPRVKHFEA
460 470 480 490 500
RSCMRQLEKF VRSVHGFQML YADCYMNREE FWEMFDGSLY HKLRKQLGCQ
510
DAFPEVYDKI CKAARH
Length:516
Mass (Da):60,112
Last modified:March 1, 2002 - v1
Checksum:i7F41D598539E86E4
GO

Sequence cautioni

The sequence BAC97846.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti61 – 622SS → TN in BAB31012. (PubMed:16141072)Curated
Sequence conflicti68 – 714EQRV → NXPL in BAB31012. (PubMed:16141072)Curated
Sequence conflicti94 – 941R → P in BAB31012. (PubMed:16141072)Curated
Sequence conflicti278 – 2781V → VAV in AAK72106. (PubMed:11519011)Curated
Sequence conflicti290 – 2901P → S in AAK72106. (PubMed:11519011)Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY039762 mRNA. Translation: AAK72106.1.
AK129036 mRNA. Translation: BAC97846.1. Different initiation.
AL929585, BX511043 Genomic DNA. Translation: CAM27475.1.
BC019797 mRNA. Translation: AAH19797.1.
AK017937 mRNA. Translation: BAB31012.1.
CCDSiCCDS18420.1.
RefSeqiNP_444502.2. NM_053272.2.
UniGeneiMm.133370.

Genome annotation databases

EnsembliENSMUST00000047973; ENSMUSP00000038063; ENSMUSG00000034926.
GeneIDi74754.
KEGGimmu:74754.
UCSCiuc008tyl.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY039762 mRNA. Translation: AAK72106.1 .
AK129036 mRNA. Translation: BAC97846.1 . Different initiation.
AL929585 , BX511043 Genomic DNA. Translation: CAM27475.1 .
BC019797 mRNA. Translation: AAH19797.1 .
AK017937 mRNA. Translation: BAB31012.1 .
CCDSi CCDS18420.1.
RefSeqi NP_444502.2. NM_053272.2.
UniGenei Mm.133370.

3D structure databases

ProteinModelPortali Q8VCH6.
SMRi Q8VCH6. Positions 115-286.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

MINTi MINT-1858806.

PTM databases

PhosphoSitei Q8VCH6.

Proteomic databases

MaxQBi Q8VCH6.
PaxDbi Q8VCH6.
PRIDEi Q8VCH6.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000047973 ; ENSMUSP00000038063 ; ENSMUSG00000034926 .
GeneIDi 74754.
KEGGi mmu:74754.
UCSCi uc008tyl.1. mouse.

Organism-specific databases

CTDi 1718.
MGIi MGI:1922004. Dhcr24.
Rougei Search...

Phylogenomic databases

eggNOGi COG0277.
GeneTreei ENSGT00390000008338.
HOGENOMi HOG000243421.
HOVERGENi HBG051349.
InParanoidi Q8VCH6.
KOi K09828.
OMAi LPNNPGM.
OrthoDBi EOG7H7920.
PhylomeDBi Q8VCH6.
TreeFami TF313170.

Enzyme and pathway databases

UniPathwayi UPA00063 .
Reactomei REACT_208531. Cholesterol biosynthesis.

Miscellaneous databases

ChiTaRSi Dhcr24. mouse.
NextBioi 341564.
PROi Q8VCH6.
SOURCEi Search...

Gene expression databases

Bgeei Q8VCH6.
CleanExi MM_DHCR24.
Genevestigatori Q8VCH6.

Family and domain databases

Gene3Di 3.30.465.10. 1 hit.
InterProi IPR016169. CO_DH_flavot_FAD-bd_sub2.
IPR016166. FAD-bd_2.
IPR006094. Oxid_FAD_bind_N.
[Graphical view ]
Pfami PF01565. FAD_binding_4. 1 hit.
[Graphical view ]
SUPFAMi SSF56176. SSF56176. 1 hit.
PROSITEi PS51387. FAD_PCMH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Mutations in the 3beta-hydroxysterol delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis."
    Waterham H.R., Koster J., Romeijn G.J., Hennekam R.C.M., Vreken P., Andersson H.C., FitzPatrick D.R., Kelley R.I., Wanders R.J.A.
    Am. J. Hum. Genet. 69:685-694(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Prediction of the coding sequences of mouse homologues of KIAA gene: III. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries."
    Okazaki N., Kikuno R., Ohara R., Inamoto S., Koseki H., Hiraoka S., Saga Y., Nagase T., Ohara O., Koga H.
    DNA Res. 10:167-180(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Fetal brain.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Strain: C57BL/6J.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Strain: FVB/N.
    Tissue: Liver.
  5. "The transcriptional landscape of the mammalian genome."
    Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
    , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
    Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 38-516.
    Strain: C57BL/6J.
    Tissue: Thymus.

Entry informationi

Entry nameiDHC24_MOUSE
AccessioniPrimary (citable) accession number: Q8VCH6
Secondary accession number(s): Q6ZQK9, Q91ZD0, Q9CU63
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: March 1, 2002
Last modified: November 26, 2014
This is version 94 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3