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Q9UBM7 (DHCR7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 135. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
7-dehydrocholesterol reductase

Short name=7-DHC reductase
EC=1.3.1.21
Alternative name(s):
Putative sterol reductase SR-2
Sterol Delta(7)-reductase
Gene names
Name:DHCR7
Synonyms:D7SR
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length475 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).

Catalytic activity

Cholesterol + NADP+ = cholesta-5,7-dien-3-beta-ol + NADPH.

Pathway

Steroid biosynthesis; cholesterol biosynthesis.

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein Ref.3.

Tissue specificity

Most abundant in adrenal gland, liver, testis, and brain. Ref.3

Involvement in disease

Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]: An autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and mental retardation. Children with SLOS have elevated serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20

Sequence similarities

Belongs to the ERG4/ERG24 family.

Ontologies

Keywords
   Biological processCholesterol biosynthesis
Cholesterol metabolism
Lipid biosynthesis
Lipid metabolism
Steroid biosynthesis
Steroid metabolism
Sterol biosynthesis
Sterol metabolism
   Cellular componentEndoplasmic reticulum
Membrane
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainTransmembrane
Transmembrane helix
   LigandNADP
   Molecular functionOxidoreductase
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processblood vessel development

Inferred from electronic annotation. Source: Ensembl

cell differentiation

Inferred from electronic annotation. Source: Ensembl

cholesterol biosynthetic process

Inferred from mutant phenotype Ref.2. Source: UniProtKB

lung development

Inferred from electronic annotation. Source: Ensembl

multicellular organism growth

Inferred from electronic annotation. Source: Ensembl

post-embryonic development

Inferred from electronic annotation. Source: Ensembl

regulation of cell proliferation

Inferred from electronic annotation. Source: Ensembl

regulation of cholesterol biosynthetic process

Inferred from electronic annotation. Source: Ensembl

small molecule metabolic process

Traceable author statement. Source: Reactome

   Cellular_componentendoplasmic reticulum

Inferred from direct assay Ref.3. Source: UniProtKB

endoplasmic reticulum membrane

Traceable author statement. Source: Reactome

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

nuclear outer membrane

Inferred from direct assay Ref.3. Source: UniProtKB

   Molecular_function7-dehydrocholesterol reductase activity

Inferred from direct assay Ref.2. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 4754757-dehydrocholesterol reductase
PRO_0000207502

Regions

Transmembrane40 – 6021Helical; Potential
Transmembrane154 – 17421Helical; Potential
Transmembrane177 – 19721Helical; Potential
Transmembrane266 – 28621Helical; Potential
Transmembrane306 – 32621Helical; Potential
Transmembrane331 – 35121Helical; Potential
Transmembrane420 – 44021Helical; Potential

Amino acid modifications

Modified residue141Phosphoserine Ref.7 Ref.8 Ref.9 Ref.10 Ref.12

Natural variations

Natural variant51S → L. Ref.2 Ref.4
Corresponds to variant rs1127869 [ dbSNP | Ensembl ].
VAR_067456
Natural variant511P → S in SLOS. Ref.14 Ref.15
VAR_012717
Natural variant681L → P in SLOS. Ref.20
VAR_023148
Natural variant931T → M in SLOS. Ref.14 Ref.15 Ref.17 Ref.18
VAR_012718
Natural variant991L → P in SLOS. Ref.14 Ref.15
VAR_012719
Natural variant1071Q → H in SLOS. Ref.15
VAR_023149
Natural variant1091L → P in SLOS. Ref.15 Ref.17
VAR_023150
Natural variant1131S → C in SLOS. Ref.20
VAR_023151
Natural variant1191H → L in SLOS. Ref.1 Ref.17
Corresponds to variant rs28938174 [ dbSNP | Ensembl ].
VAR_012720
Natural variant1381G → V in SLOS. Ref.20
VAR_023152
Natural variant1451I → L in SLOS. Ref.20
VAR_023153
Natural variant1471G → D in SLOS. Ref.15
VAR_023154
Natural variant1541T → M in SLOS. Ref.15 Ref.17
VAR_023155
Natural variant1571L → P in SLOS. Ref.14 Ref.15
VAR_012721
Natural variant1691S → L in SLOS. Ref.15
VAR_023156
Natural variant1821W → C in SLOS. Ref.15
VAR_023157
Natural variant1821W → L in SLOS. Ref.17
VAR_023158
Natural variant1831C → Y in SLOS. Ref.17
VAR_023159
Natural variant1981K → E in SLOS. Ref.17
VAR_023160
Natural variant2351F → S in SLOS. Ref.20
VAR_023161
Natural variant2421R → C in SLOS. Ref.15 Ref.20
VAR_023162
Natural variant2421R → H in SLOS. Ref.17
VAR_023163
Natural variant2441G → R in SLOS. Ref.1 Ref.17
VAR_012722
Natural variant2471A → V in SLOS. Ref.14 Ref.15
VAR_012723
Natural variant2481W → C in SLOS. Ref.1 Ref.17
Corresponds to variant rs28939698 [ dbSNP | Ensembl ].
VAR_012724
Natural variant2551F → L in SLOS. Ref.17
VAR_023164
Natural variant2811V → M in SLOS. Ref.15
VAR_023165
Natural variant2891T → I in SLOS. Ref.15 Ref.16
VAR_012725
Natural variant2971I → T in SLOS. Ref.20
VAR_023166
Natural variant3111C → G in SLOS. Ref.15
VAR_023167
Natural variant3111C → Y in SLOS. Ref.15
VAR_023168
Natural variant3241Y → H in SLOS. Ref.15
VAR_023169
Natural variant3261V → L in SLOS. Ref.14 Ref.15 Ref.18
VAR_012726
Natural variant3441G → R in SLOS. Ref.20
VAR_023170
Natural variant3521R → Q in SLOS. Ref.15
VAR_023171
Natural variant3521R → W in SLOS. Ref.14 Ref.15 Ref.18
VAR_012727
Natural variant3531V → A in SLOS. Ref.15
VAR_023172
Natural variant3621R → C in SLOS. Ref.15
VAR_023173
Natural variant3801C → R in SLOS. Ref.15
VAR_023174
Natural variant3801C → S in SLOS. Ref.14 Ref.15
VAR_012728
Natural variant3801C → Y in SLOS. Ref.15
VAR_023175
Natural variant3971S → L in SLOS. Ref.15
VAR_023176
Natural variant4041R → C in SLOS. Ref.14 Ref.15 Ref.18 Ref.20
VAR_012729
Natural variant4041R → S in SLOS. Ref.15
VAR_023177
Natural variant4051H → Y in SLOS. Ref.20
VAR_023178
Natural variant4081Y → H in SLOS. Ref.15 Ref.20
VAR_023179
Natural variant4101G → R in SLOS. Ref.15
VAR_023180
Natural variant4101G → S in SLOS. Ref.14 Ref.15
VAR_012730
Natural variant4251G → S.
Corresponds to variant rs760242 [ dbSNP | Ensembl ].
VAR_052154
Natural variant4261H → P in SLOS. Ref.20
VAR_023181
Natural variant4431R → C in SLOS. Ref.15
VAR_023182
Natural variant4461R → Q in SLOS. Ref.15
VAR_023183
Natural variant4481E → K in SLOS; mild. Ref.15 Ref.19
VAR_016975
Natural variant4481E → Q in SLOS. Ref.15
VAR_023184
Natural variant4501R → L in SLOS. Ref.15
VAR_023185

Experimental info

Sequence conflict141S → A in AAC18345. Ref.6

Sequences

Sequence LengthMass (Da)Tools
Q9UBM7 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: 7D726443834C4EEB

FASTA47554,489
        10         20         30         40         50         60 
MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA PFIVYYFIMA 

        70         80         90        100        110        120 
CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY TLWVTFQVLL YTSLPDFCHK 

       130        140        150        160        170        180 
FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA WLLTHLLWFA NAHLLSWFSP TIIFDNWIPL 

       190        200        210        220        230        240 
LWCANILGYA VSTFAMVKGY FFPTSARDCK FTGNFFYNYM MGIEFNPRIG KWFDFKLFFN 

       250        260        270        280        290        300 
GRPGIVAWTL INLSFAAKQR ELHSHVTNAM VLVNVLQAIY VIDFFWNETW YLKTIDICHD 

       310        320        330        340        350        360 
HFGWYLGWGD CVWLPYLYTL QGLYLVYHPV QLSTPHAVGV LLLGLVGYYI FRVANHQKDL 

       370        380        390        400        410        420 
FRRTDGRCLI WGRKPKVIEC SYTSADGQRH HSKLLVSGFW GVARHFNYVG DLMGSLAYCL 

       430        440        450        460        470 
ACGGGHLLPY FYIIYMAILL THRCLRDEHR CASKYGRDWE RYTAAVPYRL LPGIF 

« Hide

References

« Hide 'large scale' references
[1]"Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene."
Waterham H.R., Wijburg F.A., Hennekam R.C.M., Vreken P., Poll-The B.T., Dorland L., Duran M., Jira P.E., Smeitink J.A.M., Wevers R.A., Wanders R.J.A.
Am. J. Hum. Genet. 63:329-338(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS SLOS LEU-119; ARG-244 AND CYS-248.
[2]"Molecular cloning and expression of the human delta7-sterol reductase."
Moebius F.F., Fitzky B.U., Lee J.N., Paik Y.K., Glossmann H.
Proc. Natl. Acad. Sci. U.S.A. 95:1899-1902(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], CHARACTERIZATION, VARIANT LEU-5.
Tissue: Liver.
[3]"The human lamin B receptor/sterol reductase multigene family."
Holmer L., Pezhman A., Worman H.J.
Genomics 54:469-476(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT LEU-5.
Tissue: Testis.
[5]"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].
Tissue: Brain.
[6]"Mutations in the human sterol delta 7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome."
Wassif C.A., Maslen C., Kachilele-Linjewile S., Lin D., Linck L.M., Conner W.E., Steiner R.D., Porter F.D.
Am. J. Hum. Genet. 63:55-62(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 14-475.
Tissue: Liver.
[7]"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-14, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Large-scale proteomics analysis of the human kinome."
Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H.
Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-14, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-14, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[10]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-14, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[11]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[12]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-14, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[14]"Mutations in the delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome."
Fitzky B.U., Witsch-Baumgartner M., Erdel M., Lee J.N., Paik Y.-K., Glossmann H., Utermann G., Moebius F.F.
Proc. Natl. Acad. Sci. U.S.A. 95:8181-8186(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SLOS SER-51; MET-93; PRO-99; PRO-157; VAL-247; LEU-326; TRP-352; SER-380; CYS-404 AND SER-410.
[15]"Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome."
Witsch-Baumgartner M., Fitzky B.U., Ogorelkova M., Kraft H.G., Moebius F.F., Glossmann H., Seedorf U., Gillessen-Kaesbach G., Hoffmann G.F., Clayton P., Kelley R.I., Utermann G.
Am. J. Hum. Genet. 66:402-412(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SLOS SER-51; MET-93; PRO-99; HIS-107; PRO-109; ASP-147; MET-154; PRO-157; LEU-169; CYS-182; CYS-242; VAL-247; MET-281; ILE-289; GLY-311; TYR-311; HIS-324; LEU-326; GLN-352; TRP-352; ALA-353; CYS-362; TYR-380; ARG-380; SER-380; LEU-397; CYS-404; SER-404; HIS-408; SER-410; ARG-410; CYS-443; GLN-446; GLN-448; LYS-448 AND LEU-450.
[16]"Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping."
Krakowiak P.A., Nwokoro N.A., Wassif C.A., Battaile K.P., Nowaczyk M.J.M., Connor W.E., Maslen C., Steiner R.D., Porter F.D.
Am. J. Med. Genet. 94:214-227(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SLOS ILE-289.
[17]"Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith-Lemli-Opitz syndrome."
Jira P.E., Wanders R.J.A., Smeitink J.A.M., De Jong J., Wevers R.A., Oostheim W., Tuerlings J.H.A.M., Hennekam R.C.M., Sengers R.C.A., Waterham H.R.
Ann. Hum. Genet. 65:229-236(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SLOS MET-93; PRO-109; LEU-119; MET-154; LEU-182; TYR-183; GLU-198; HIS-242; ARG-244; CYS-248 AND LEU-255.
[18]"Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations."
Witsch-Baumgartner M., Ciara E., Loffler J., Menzel H.J., Seedorf U., Burn J., Gillessen-Kaesbach G., Hoffmann G.F., Fitzky B.U., Mundy H., Clayton P., Kelley R.I., Krajewska-Walasek M., Utermann G.
Eur. J. Hum. Genet. 9:45-50(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SLOS MET-93; LEU-326; TRP-352 AND CYS-404.
[19]"Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome."
Langius F.A., Waterham H.R., Romeijn G.J., Oostheim W., de Barse M.M., Dorland L., Duran M., Beemer F.A., Wanders R.J., Poll-The B.T.
Am. J. Med. Genet. A 122:24-29(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SLOS LYS-448.
[20]"Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)."
Waye J.S., Krakowiak P.A., Wassif C.A., Sterner A.L., Eng B., Nakamura L.M., Nowaczyk M.J.M., Porter F.D.
Hum. Mutat. 26:59-59(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SLOS PRO-68; CYS-113; VAL-138; LEU-145; SER-235; CYS-242; THR-297; ARG-344; CYS-404; TYR-405; HIS-408 AND PRO-426.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF096305 mRNA. Translation: AAD09766.1.
AF034544 mRNA. Translation: AAC05086.1.
AF110060 Genomic DNA. Translation: AAD24762.1.
AF067127 mRNA. Translation: AAD02816.1.
AK312775 mRNA. Translation: BAG35639.1.
BC000054 mRNA. Translation: AAH00054.1.
AF062481 mRNA. Translation: AAC18345.1.
RefSeqNP_001157289.1. NM_001163817.1.
NP_001351.2. NM_001360.2.
UniGeneHs.503134.

3D structure databases

ProteinModelPortalQ9UBM7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108063. 6 interactions.
IntActQ9UBM7. 6 interactions.
MINTMINT-4651013.
STRING9606.ENSP00000347717.

Chemistry

ChEMBLCHEMBL2169735.
DrugBankDB00157. NADH.

PTM databases

PhosphoSiteQ9UBM7.

Polymorphism databases

DMDM20138066.

Proteomic databases

PaxDbQ9UBM7.
PeptideAtlasQ9UBM7.
PRIDEQ9UBM7.

Protocols and materials databases

DNASU1717.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000355527; ENSP00000347717; ENSG00000172893.
ENST00000407721; ENSP00000384739; ENSG00000172893.
GeneID1717.
KEGGhsa:1717.
UCSCuc001oqk.3. human.

Organism-specific databases

CTD1717.
GeneCardsGC11M071145.
HGNCHGNC:2860. DHCR7.
HPAHPA044280.
MIM270400. phenotype.
602858. gene.
neXtProtNX_Q9UBM7.
Orphanet818. Smith-Lemli-Opitz syndrome.
PharmGKBPA27321.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG72042.
HOGENOMHOG000193296.
HOVERGENHBG007825.
InParanoidQ9UBM7.
KOK00213.
OMATFAMIKG.
PhylomeDBQ9UBM7.
TreeFamTF101180.

Enzyme and pathway databases

BioCycMetaCyc:HS10588-MONOMER.
BRENDA1.3.1.21. 2681.
ReactomeREACT_111217. Metabolism.
SABIO-RKQ9UBM7.
UniPathwayUPA00063.

Gene expression databases

ArrayExpressQ9UBM7.
BgeeQ9UBM7.
CleanExHS_DHCR7.
GenevestigatorQ9UBM7.

Family and domain databases

InterProIPR001171. Ergosterol_biosynth_ERG4_ERG24.
IPR018083. Sterol_reductase_CS.
[Graphical view]
PfamPF01222. ERG4_ERG24. 1 hit.
[Graphical view]
PROSITEPS01017. STEROL_REDUCT_1. 1 hit.
PS01018. STEROL_REDUCT_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWiki7-Dehydrocholesterol_reductase.
GenomeRNAi1717.
NextBio6956.
PROQ9UBM7.
SOURCESearch...

Entry information

Entry nameDHCR7_HUMAN
AccessionPrimary (citable) accession number: Q9UBM7
Secondary accession number(s): B2R6Z2, O60492, O60717
Entry history
Integrated into UniProtKB/Swiss-Prot: January 31, 2002
Last sequence update: May 1, 2000
Last modified: April 16, 2014
This is version 135 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM