DHCR24 | ENSG00000116133 | NCBI 1718

Details for: DHCR24

Gene ID: 1718

Symbol: DHCR24

Ensembl ID: ENSG00000116133

Description: 24-dehydrocholesterol reductase

Associated with

Cholesterol biosynthesis
(R-HSA-191273)
Cholesterol biosynthesis via desmosterol
(R-HSA-6807047)
Cholesterol biosynthesis via lathosterol
(R-HSA-6807062)
Metabolism
(R-HSA-1430728)
Metabolism of lipids
(R-HSA-556833)
Metabolism of steroids
(R-HSA-8957322)
Amyloid precursor protein catabolic process
(GO:0042987)
Cholesterol biosynthetic process
(GO:0006695)
Cholesterol biosynthetic process via desmosterol
(GO:0033489)
Cholesterol biosynthetic process via lathosterol
(GO:0033490)
Cytoplasm
(GO:0005737)
Delta24(24-1) sterol reductase activity
(GO:0000246)
Delta24-sterol reductase activity
(GO:0050614)
Endoplasmic reticulum
(GO:0005783)
Endoplasmic reticulum membrane
(GO:0005789)
Enzyme binding
(GO:0019899)
Fad binding
(GO:0071949)
Golgi membrane
(GO:0000139)
Male genitalia development
(GO:0030539)
Membrane
(GO:0016020)
Membrane organization
(GO:0061024)
Negative regulation of cell population proliferation
(GO:0008285)
Nucleus
(GO:0005634)
Oxidoreductase activity, acting on the ch-ch group of donors, nad or nadp as acceptor
(GO:0016628)
Peptide antigen binding
(GO:0042605)
Plasminogen activation
(GO:0031639)
Protein binding
(GO:0005515)
Protein localization
(GO:0008104)
Ras protein signal transduction
(GO:0007265)
Response to hormone
(GO:0009725)
Skin development
(GO:0043588)
Steroid metabolic process
(GO:0008202)
Tissue development
(GO:0009888)

Other Information

Proteins

Delta(24)-sterol reductase

Genular Protein ID: 446735536

Symbol: DHC24_HUMAN

Name: Delta(24)-sterol reductase

UniProtKB Accession Codes:

Q15392 B7Z817 D3DQ51 Q9HBA8

Database IDs:

Citations:

PubMed ID: 11007892

Title: The human DIMINUTO/DWARF1 homolog seladin-1 confers resistance to Alzheimer's disease-associated neurodegeneration and oxidative stress.

PubMed ID: 11007892

DOI: 10.1523/jneurosci.20-19-07345.2000

PubMed ID: 11519011

Title: Mutations in the 3beta-hydroxysterol delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.

PubMed ID: 11519011

DOI: 10.1086/323473

PubMed ID: 7584026

Title: Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1.

PubMed ID: 7584026

DOI: 10.1093/dnares/1.1.27

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 21671375

Title: Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.

PubMed ID: 21671375

DOI: 10.1002/ajmg.a.34040

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22178193

Title: The endogenous regulator 24(S),25-epoxycholesterol inhibits cholesterol synthesis at DHCR24 (Seladin-1).

PubMed ID: 22178193

DOI: 10.1016/j.bbalip.2011.11.009

PubMed ID: 22010141

Title: The membrane topological analysis of 3 {beta}-hydroxysteroid-delta24 reductase (DHCR24) on endoplasmic reticulum.

PubMed ID: 22010141

DOI: 10.1530/jme-11-0132

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25637936

Title: The terminal enzymes of cholesterol synthesis, DHCR24 and DHCR7, interact physically and functionally.

PubMed ID: 25637936

DOI: 10.1194/jlr.m056986

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

Sequence Information:

Length: 516
Mass: 60101
Checksum: F9A769446FE19E59
Sequence:

MEPAVSLAVC ALLFLLWVRL KGLEFVLIHQ RWVFVCLFLL PLSLIFDIYY YVRAWVVFKL 
SSAPRLHEQR VRDIQKQVRE WKEQGSKTFM CTGRPGWLTV SLRVGKYKKT HKNIMINLMD 
ILEVDTKKQI VRVEPLVTMG QVTALLTSIG WTLPVLPELD DLTVGGLIMG TGIESSSHKY 
GLFQHICTAY ELVLADGSFV RCTPSENSDL FYAVPWSCGT LGFLVAAEIR IIPAKKYVKL 
RFEPVRGLEA ICAKFTHESQ RQENHFVEGL LYSLDEAVIM TGVMTDEAEP SKLNSIGNYY 
KPWFFKHVEN YLKTNREGLE YIPLRHYYHR HTRSIFWELQ DIIPFGNNPI FRYLFGWMVP 
PKISLLKLTQ GETLRKLYEQ HHVVQDMLVP MKCLQQALHT FQNDIHVYPI WLCPFILPSQ 
PGLVHPKGNE AELYIDIGAY GEPRVKHFEA RSCMRQLEKF VRSVHGFQML YADCYMNREE 
FWEMFDGSLY HKLREKLGCQ DAFPEVYDKI CKAARH

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: DHCR24

Associated with

Other Information

The human DIMINUTO/DWARF1 homolog seladin-1 confers resistance to Alzheimer's disease-associated neurodegeneration and oxidative stress. PubMed ID: 11007892

Mutations in the 3beta-hydroxysterol delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. PubMed ID: 11519011

Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. PubMed ID: 7584026

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence and biological annotation of human chromosome 1. PubMed ID: 16710414

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature. PubMed ID: 21671375

Initial characterization of the human central proteome. PubMed ID: 21269460

The endogenous regulator 24(S),25-epoxycholesterol inhibits cholesterol synthesis at DHCR24 (Seladin-1). PubMed ID: 22178193

The membrane topological analysis of 3 {beta}-hydroxysteroid-delta24 reductase (DHCR24) on endoplasmic reticulum. PubMed ID: 22010141

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

The terminal enzymes of cholesterol synthesis, DHCR24 and DHCR7, interact physically and functionally. PubMed ID: 25637936

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712