DHCR7 | ENSG00000172893 | NCBI 1717

Details for: DHCR7

Gene ID: 1717

Symbol: DHCR7

Ensembl ID: ENSG00000172893

Description: 7-dehydrocholesterol reductase

Associated with

Activation of gene expression by srebf (srebp)
(R-HSA-2426168)
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)
Regulation of cholesterol biosynthesis by srebp (srebf)
(R-HSA-1655829)
7-dehydrocholesterol reductase activity
(GO:0047598)
Brassinosteroid biosynthetic process
(GO:0016132)
Cholesterol biosynthetic process
(GO:0006695)
Cholesterol biosynthetic process via desmosterol
(GO:0033489)
Cholesterol biosynthetic process via lathosterol
(GO:0033490)
Endoplasmic reticulum
(GO:0005783)
Endoplasmic reticulum membrane
(GO:0005789)
Membrane
(GO:0016020)
Nadp binding
(GO:0050661)
Nuclear outer membrane
(GO:0005640)
Protein binding
(GO:0005515)

Other Information

Proteins

Sterol Delta(7)-reductase

Genular Protein ID: 2234775403

Symbol: DHCR7_HUMAN

Name: Sterol Delta(7)-reductase

UniProtKB Accession Codes:

Q9UBM7 B2R6Z2 O60492 O60717

Database IDs:

Citations:

PubMed ID: 9683613

Title: Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

PubMed ID: 9683613

DOI: 10.1086/301982

PubMed ID: 9465114

Title: Molecular cloning and expression of the human delta7-sterol reductase.

PubMed ID: 9465114

DOI: 10.1073/pnas.95.4.1899

PubMed ID: 9878250

Title: The human lamin B receptor/sterol reductase multigene family.

PubMed ID: 9878250

DOI: 10.1006/geno.1998.5615

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 9634533

Title: Mutations in the human sterol delta 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

PubMed ID: 9634533

DOI: 10.1086/301936

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.m800588-mcp200

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

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

PubMed ID: 32694168

Title: TMEM147 interacts with lamin B receptor, regulates its localization and levels, and affects cholesterol homeostasis.

PubMed ID: 32694168

DOI: 10.1242/jcs.245357

PubMed ID: 9653161

Title: Mutations in the delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.

PubMed ID: 9653161

DOI: 10.1073/pnas.95.14.8181

PubMed ID: 10677299

Title: Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

PubMed ID: 10677299

DOI: 10.1086/302760

PubMed ID: 10995508

Title: Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.

PubMed ID: 10995508

DOI: 10.1002/1096-8628(20000918)94:3<214::aid-ajmg7>3.3.co;2-i

PubMed ID: 11427181

Title: Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome.

PubMed ID: 11427181

DOI: 10.1017/s0003480001008600

PubMed ID: 11175299

Title: Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.

PubMed ID: 11175299

DOI: 10.1038/sj.ejhg.5200579

PubMed ID: 12949967

Title: Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome.

PubMed ID: 12949967

DOI: 10.1002/ajmg.a.20207

PubMed ID: 15954111

Title: Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).

PubMed ID: 15954111

DOI: 10.1002/humu.9346

PubMed ID: 25787250

Title: Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas.

PubMed ID: 25787250

DOI: 10.1073/pnas.1503696112

Sequence Information:

Length: 475
Mass: 54489
Checksum: 7D726443834C4EEB
Sequence:

MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA PFIVYYFIMA 
CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY TLWVTFQVLL YTSLPDFCHK 
FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA WLLTHLLWFA NAHLLSWFSP TIIFDNWIPL 
LWCANILGYA VSTFAMVKGY FFPTSARDCK FTGNFFYNYM MGIEFNPRIG KWFDFKLFFN 
GRPGIVAWTL INLSFAAKQR ELHSHVTNAM VLVNVLQAIY VIDFFWNETW YLKTIDICHD 
HFGWYLGWGD CVWLPYLYTL QGLYLVYHPV QLSTPHAVGV LLLGLVGYYI FRVANHQKDL 
FRRTDGRCLI WGRKPKVIEC SYTSADGQRH HSKLLVSGFW GVARHFNYVG DLMGSLAYCL 
ACGGGHLLPY FYIIYMAILL THRCLRDEHR CASKYGRDWE RYTAAVPYRL LPGIF

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: DHCR7

Associated with

Other Information

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. PubMed ID: 9683613

Molecular cloning and expression of the human delta7-sterol reductase. PubMed ID: 9465114

The human lamin B receptor/sterol reductase multigene family. PubMed ID: 9878250

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

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

Mutations in the human sterol delta 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. PubMed ID: 9634533

Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. PubMed ID: 18691976

Large-scale proteomics analysis of the human kinome. PubMed ID: 19369195

Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. PubMed ID: 19690332

Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. PubMed ID: 20068231

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

System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. PubMed ID: 21406692

N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. PubMed ID: 22814378

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

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

TMEM147 interacts with lamin B receptor, regulates its localization and levels, and affects cholesterol homeostasis. PubMed ID: 32694168

Mutations in the delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. PubMed ID: 9653161

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. PubMed ID: 10677299

Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping. PubMed ID: 10995508

Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome. PubMed ID: 11427181

Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. PubMed ID: 11175299

Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. PubMed ID: 12949967

Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS). PubMed ID: 15954111

Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas. PubMed ID: 25787250