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Q9UBM7

- DHCR7_HUMAN

UniProt

Q9UBM7 - DHCR7_HUMAN

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Protein
7-dehydrocholesterol reductase
Gene
DHCR7, D7SR
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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

Catalytic activityi

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

Pathwayi

GO - Molecular functioni

  1. 7-dehydrocholesterol reductase activity Source: UniProtKB

GO - Biological processi

  1. blood vessel development Source: Ensembl
  2. cell differentiation Source: Ensembl
  3. cholesterol biosynthetic process Source: UniProtKB
  4. lung development Source: Ensembl
  5. multicellular organism growth Source: Ensembl
  6. post-embryonic development Source: Ensembl
  7. regulation of cell proliferation Source: Ensembl
  8. regulation of cholesterol biosynthetic process Source: Ensembl
  9. small molecule metabolic process Source: Reactome
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

NADP

Enzyme and pathway databases

BioCyciMetaCyc:HS10588-MONOMER.
BRENDAi1.3.1.21. 2681.
ReactomeiREACT_147904. Activation of gene expression by SREBF (SREBP).
REACT_9405. Cholesterol biosynthesis.
SABIO-RKQ9UBM7.
UniPathwayiUPA00063.

Names & Taxonomyi

Protein namesi
Recommended name:
7-dehydrocholesterol reductase (EC:1.3.1.21)
Short name:
7-DHC reductase
Alternative name(s):
Putative sterol reductase SR-2
Sterol Delta(7)-reductase
Gene namesi
Name:DHCR7
Synonyms:D7SR
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:2860. DHCR7.

Subcellular locationi

Endoplasmic reticulum membrane; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei40 – 6021Helical; Reviewed prediction
Add
BLAST
Transmembranei154 – 17421Helical; Reviewed prediction
Add
BLAST
Transmembranei177 – 19721Helical; Reviewed prediction
Add
BLAST
Transmembranei266 – 28621Helical; Reviewed prediction
Add
BLAST
Transmembranei306 – 32621Helical; Reviewed prediction
Add
BLAST
Transmembranei331 – 35121Helical; Reviewed prediction
Add
BLAST
Transmembranei420 – 44021Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. endoplasmic reticulum Source: UniProtKB
  2. endoplasmic reticulum membrane Source: Reactome
  3. integral component of membrane Source: UniProtKB-KW
  4. nuclear outer membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

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.8 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti51 – 511P → S in SLOS. 2 Publications
VAR_012717
Natural varianti68 – 681L → P in SLOS. 1 Publication
VAR_023148
Natural varianti93 – 931T → M in SLOS. 4 Publications
VAR_012718
Natural varianti99 – 991L → P in SLOS. 2 Publications
VAR_012719
Natural varianti107 – 1071Q → H in SLOS. 1 Publication
VAR_023149
Natural varianti109 – 1091L → P in SLOS. 2 Publications
VAR_023150
Natural varianti113 – 1131S → C in SLOS. 1 Publication
VAR_023151
Natural varianti119 – 1191H → L in SLOS. 2 Publications
Corresponds to variant rs28938174 [ dbSNP | Ensembl ].
VAR_012720
Natural varianti138 – 1381G → V in SLOS. 1 Publication
VAR_023152
Natural varianti145 – 1451I → L in SLOS. 1 Publication
VAR_023153
Natural varianti147 – 1471G → D in SLOS. 1 Publication
VAR_023154
Natural varianti154 – 1541T → M in SLOS. 2 Publications
VAR_023155
Natural varianti157 – 1571L → P in SLOS. 2 Publications
VAR_012721
Natural varianti169 – 1691S → L in SLOS. 1 Publication
VAR_023156
Natural varianti182 – 1821W → C in SLOS. 1 Publication
VAR_023157
Natural varianti182 – 1821W → L in SLOS. 1 Publication
VAR_023158
Natural varianti183 – 1831C → Y in SLOS. 1 Publication
VAR_023159
Natural varianti198 – 1981K → E in SLOS. 1 Publication
VAR_023160
Natural varianti235 – 2351F → S in SLOS. 1 Publication
VAR_023161
Natural varianti242 – 2421R → C in SLOS. 2 Publications
VAR_023162
Natural varianti242 – 2421R → H in SLOS. 1 Publication
VAR_023163
Natural varianti244 – 2441G → R in SLOS. 2 Publications
VAR_012722
Natural varianti247 – 2471A → V in SLOS. 2 Publications
VAR_012723
Natural varianti248 – 2481W → C in SLOS. 2 Publications
Corresponds to variant rs28939698 [ dbSNP | Ensembl ].
VAR_012724
Natural varianti255 – 2551F → L in SLOS. 1 Publication
VAR_023164
Natural varianti281 – 2811V → M in SLOS. 1 Publication
VAR_023165
Natural varianti289 – 2891T → I in SLOS. 2 Publications
VAR_012725
Natural varianti297 – 2971I → T in SLOS. 1 Publication
VAR_023166
Natural varianti311 – 3111C → G in SLOS. 1 Publication
VAR_023167
Natural varianti311 – 3111C → Y in SLOS. 1 Publication
VAR_023168
Natural varianti324 – 3241Y → H in SLOS. 1 Publication
VAR_023169
Natural varianti326 – 3261V → L in SLOS. 3 Publications
VAR_012726
Natural varianti344 – 3441G → R in SLOS. 1 Publication
VAR_023170
Natural varianti352 – 3521R → Q in SLOS. 1 Publication
VAR_023171
Natural varianti352 – 3521R → W in SLOS. 3 Publications
VAR_012727
Natural varianti353 – 3531V → A in SLOS. 1 Publication
VAR_023172
Natural varianti362 – 3621R → C in SLOS. 1 Publication
VAR_023173
Natural varianti380 – 3801C → R in SLOS. 1 Publication
VAR_023174
Natural varianti380 – 3801C → S in SLOS. 2 Publications
VAR_012728
Natural varianti380 – 3801C → Y in SLOS. 1 Publication
VAR_023175
Natural varianti397 – 3971S → L in SLOS. 1 Publication
VAR_023176
Natural varianti404 – 4041R → C in SLOS. 4 Publications
VAR_012729
Natural varianti404 – 4041R → S in SLOS. 1 Publication
VAR_023177
Natural varianti405 – 4051H → Y in SLOS. 1 Publication
VAR_023178
Natural varianti408 – 4081Y → H in SLOS. 2 Publications
VAR_023179
Natural varianti410 – 4101G → R in SLOS. 1 Publication
VAR_023180
Natural varianti410 – 4101G → S in SLOS. 2 Publications
VAR_012730
Natural varianti426 – 4261H → P in SLOS. 1 Publication
VAR_023181
Natural varianti443 – 4431R → C in SLOS. 1 Publication
VAR_023182
Natural varianti446 – 4461R → Q in SLOS. 1 Publication
VAR_023183
Natural varianti448 – 4481E → K in SLOS; mild. 2 Publications
VAR_016975
Natural varianti448 – 4481E → Q in SLOS. 1 Publication
VAR_023184
Natural varianti450 – 4501R → L in SLOS. 1 Publication
VAR_023185

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi270400. phenotype.
Orphaneti818. Smith-Lemli-Opitz syndrome.
PharmGKBiPA27321.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 4754757-dehydrocholesterol reductase
PRO_0000207502Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei14 – 141Phosphoserine5 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9UBM7.
PaxDbiQ9UBM7.
PeptideAtlasiQ9UBM7.
PRIDEiQ9UBM7.

PTM databases

PhosphoSiteiQ9UBM7.

Expressioni

Tissue specificityi

Most abundant in adrenal gland, liver, testis, and brain.1 Publication

Gene expression databases

ArrayExpressiQ9UBM7.
BgeeiQ9UBM7.
CleanExiHS_DHCR7.
GenevestigatoriQ9UBM7.

Organism-specific databases

HPAiHPA044280.

Interactioni

Protein-protein interaction databases

BioGridi108063. 6 interactions.
IntActiQ9UBM7. 6 interactions.
MINTiMINT-4651013.
STRINGi9606.ENSP00000347717.

Structurei

3D structure databases

ProteinModelPortaliQ9UBM7.

Family & Domainsi

Sequence similaritiesi

Belongs to the ERG4/ERG24 family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG72042.
HOGENOMiHOG000193296.
HOVERGENiHBG007825.
InParanoidiQ9UBM7.
KOiK00213.
OMAiFYIIYMT.
PhylomeDBiQ9UBM7.
TreeFamiTF101180.

Family and domain databases

InterProiIPR001171. Ergosterol_biosynth_ERG4_ERG24.
IPR018083. Sterol_reductase_CS.
[Graphical view]
PfamiPF01222. ERG4_ERG24. 1 hit.
[Graphical view]
PROSITEiPS01017. STEROL_REDUCT_1. 1 hit.
PS01018. STEROL_REDUCT_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9UBM7-1 [UniParc]FASTAAdd to Basket

« Hide

MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA    50
PFIVYYFIMA CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY 100
TLWVTFQVLL YTSLPDFCHK FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA 150
WLLTHLLWFA NAHLLSWFSP TIIFDNWIPL LWCANILGYA VSTFAMVKGY 200
FFPTSARDCK FTGNFFYNYM MGIEFNPRIG KWFDFKLFFN GRPGIVAWTL 250
INLSFAAKQR ELHSHVTNAM VLVNVLQAIY VIDFFWNETW YLKTIDICHD 300
HFGWYLGWGD CVWLPYLYTL QGLYLVYHPV QLSTPHAVGV LLLGLVGYYI 350
FRVANHQKDL FRRTDGRCLI WGRKPKVIEC SYTSADGQRH HSKLLVSGFW 400
GVARHFNYVG DLMGSLAYCL ACGGGHLLPY FYIIYMAILL THRCLRDEHR 450
CASKYGRDWE RYTAAVPYRL LPGIF 475
Length:475
Mass (Da):54,489
Last modified:May 1, 2000 - v1
Checksum:i7D726443834C4EEB
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti5 – 51S → L.2 Publications
Corresponds to variant rs1127869 [ dbSNP | Ensembl ].
VAR_067456
Natural varianti51 – 511P → S in SLOS. 2 Publications
VAR_012717
Natural varianti68 – 681L → P in SLOS. 1 Publication
VAR_023148
Natural varianti93 – 931T → M in SLOS. 4 Publications
VAR_012718
Natural varianti99 – 991L → P in SLOS. 2 Publications
VAR_012719
Natural varianti107 – 1071Q → H in SLOS. 1 Publication
VAR_023149
Natural varianti109 – 1091L → P in SLOS. 2 Publications
VAR_023150
Natural varianti113 – 1131S → C in SLOS. 1 Publication
VAR_023151
Natural varianti119 – 1191H → L in SLOS. 2 Publications
Corresponds to variant rs28938174 [ dbSNP | Ensembl ].
VAR_012720
Natural varianti138 – 1381G → V in SLOS. 1 Publication
VAR_023152
Natural varianti145 – 1451I → L in SLOS. 1 Publication
VAR_023153
Natural varianti147 – 1471G → D in SLOS. 1 Publication
VAR_023154
Natural varianti154 – 1541T → M in SLOS. 2 Publications
VAR_023155
Natural varianti157 – 1571L → P in SLOS. 2 Publications
VAR_012721
Natural varianti169 – 1691S → L in SLOS. 1 Publication
VAR_023156
Natural varianti182 – 1821W → C in SLOS. 1 Publication
VAR_023157
Natural varianti182 – 1821W → L in SLOS. 1 Publication
VAR_023158
Natural varianti183 – 1831C → Y in SLOS. 1 Publication
VAR_023159
Natural varianti198 – 1981K → E in SLOS. 1 Publication
VAR_023160
Natural varianti235 – 2351F → S in SLOS. 1 Publication
VAR_023161
Natural varianti242 – 2421R → C in SLOS. 2 Publications
VAR_023162
Natural varianti242 – 2421R → H in SLOS. 1 Publication
VAR_023163
Natural varianti244 – 2441G → R in SLOS. 2 Publications
VAR_012722
Natural varianti247 – 2471A → V in SLOS. 2 Publications
VAR_012723
Natural varianti248 – 2481W → C in SLOS. 2 Publications
Corresponds to variant rs28939698 [ dbSNP | Ensembl ].
VAR_012724
Natural varianti255 – 2551F → L in SLOS. 1 Publication
VAR_023164
Natural varianti281 – 2811V → M in SLOS. 1 Publication
VAR_023165
Natural varianti289 – 2891T → I in SLOS. 2 Publications
VAR_012725
Natural varianti297 – 2971I → T in SLOS. 1 Publication
VAR_023166
Natural varianti311 – 3111C → G in SLOS. 1 Publication
VAR_023167
Natural varianti311 – 3111C → Y in SLOS. 1 Publication
VAR_023168
Natural varianti324 – 3241Y → H in SLOS. 1 Publication
VAR_023169
Natural varianti326 – 3261V → L in SLOS. 3 Publications
VAR_012726
Natural varianti344 – 3441G → R in SLOS. 1 Publication
VAR_023170
Natural varianti352 – 3521R → Q in SLOS. 1 Publication
VAR_023171
Natural varianti352 – 3521R → W in SLOS. 3 Publications
VAR_012727
Natural varianti353 – 3531V → A in SLOS. 1 Publication
VAR_023172
Natural varianti362 – 3621R → C in SLOS. 1 Publication
VAR_023173
Natural varianti380 – 3801C → R in SLOS. 1 Publication
VAR_023174
Natural varianti380 – 3801C → S in SLOS. 2 Publications
VAR_012728
Natural varianti380 – 3801C → Y in SLOS. 1 Publication
VAR_023175
Natural varianti397 – 3971S → L in SLOS. 1 Publication
VAR_023176
Natural varianti404 – 4041R → C in SLOS. 4 Publications
VAR_012729
Natural varianti404 – 4041R → S in SLOS. 1 Publication
VAR_023177
Natural varianti405 – 4051H → Y in SLOS. 1 Publication
VAR_023178
Natural varianti408 – 4081Y → H in SLOS. 2 Publications
VAR_023179
Natural varianti410 – 4101G → R in SLOS. 1 Publication
VAR_023180
Natural varianti410 – 4101G → S in SLOS. 2 Publications
VAR_012730
Natural varianti425 – 4251G → S.
Corresponds to variant rs760242 [ dbSNP | Ensembl ].
VAR_052154
Natural varianti426 – 4261H → P in SLOS. 1 Publication
VAR_023181
Natural varianti443 – 4431R → C in SLOS. 1 Publication
VAR_023182
Natural varianti446 – 4461R → Q in SLOS. 1 Publication
VAR_023183
Natural varianti448 – 4481E → K in SLOS; mild. 2 Publications
VAR_016975
Natural varianti448 – 4481E → Q in SLOS. 1 Publication
VAR_023184
Natural varianti450 – 4501R → L in SLOS. 1 Publication
VAR_023185

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti14 – 141S → A in AAC18345. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS8200.1.
RefSeqiNP_001157289.1. NM_001163817.1.
NP_001351.2. NM_001360.2.
UniGeneiHs.503134.

Genome annotation databases

EnsembliENST00000355527; ENSP00000347717; ENSG00000172893.
ENST00000407721; ENSP00000384739; ENSG00000172893.
GeneIDi1717.
KEGGihsa:1717.
UCSCiuc001oqk.3. human.

Polymorphism databases

DMDMi20138066.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS8200.1.
RefSeqi NP_001157289.1. NM_001163817.1.
NP_001351.2. NM_001360.2.
UniGenei Hs.503134.

3D structure databases

ProteinModelPortali Q9UBM7.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108063. 6 interactions.
IntActi Q9UBM7. 6 interactions.
MINTi MINT-4651013.
STRINGi 9606.ENSP00000347717.

Chemistry

ChEMBLi CHEMBL612409.
DrugBanki DB00157. NADH.

PTM databases

PhosphoSitei Q9UBM7.

Polymorphism databases

DMDMi 20138066.

Proteomic databases

MaxQBi Q9UBM7.
PaxDbi Q9UBM7.
PeptideAtlasi Q9UBM7.
PRIDEi Q9UBM7.

Protocols and materials databases

DNASUi 1717.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000355527 ; ENSP00000347717 ; ENSG00000172893 .
ENST00000407721 ; ENSP00000384739 ; ENSG00000172893 .
GeneIDi 1717.
KEGGi hsa:1717.
UCSCi uc001oqk.3. human.

Organism-specific databases

CTDi 1717.
GeneCardsi GC11M071145.
GeneReviewsi DHCR7.
HGNCi HGNC:2860. DHCR7.
HPAi HPA044280.
MIMi 270400. phenotype.
602858. gene.
neXtProti NX_Q9UBM7.
Orphaneti 818. Smith-Lemli-Opitz syndrome.
PharmGKBi PA27321.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG72042.
HOGENOMi HOG000193296.
HOVERGENi HBG007825.
InParanoidi Q9UBM7.
KOi K00213.
OMAi FYIIYMT.
PhylomeDBi Q9UBM7.
TreeFami TF101180.

Enzyme and pathway databases

UniPathwayi UPA00063 .
BioCyci MetaCyc:HS10588-MONOMER.
BRENDAi 1.3.1.21. 2681.
Reactomei REACT_147904. Activation of gene expression by SREBF (SREBP).
REACT_9405. Cholesterol biosynthesis.
SABIO-RK Q9UBM7.

Miscellaneous databases

GeneWikii 7-Dehydrocholesterol_reductase.
GenomeRNAii 1717.
NextBioi 6956.
PROi Q9UBM7.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9UBM7.
Bgeei Q9UBM7.
CleanExi HS_DHCR7.
Genevestigatori Q9UBM7.

Family and domain databases

InterProi IPR001171. Ergosterol_biosynth_ERG4_ERG24.
IPR018083. Sterol_reductase_CS.
[Graphical view ]
Pfami PF01222. ERG4_ERG24. 1 hit.
[Graphical view ]
PROSITEi PS01017. STEROL_REDUCT_1. 1 hit.
PS01018. STEROL_REDUCT_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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.
    , 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. 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. 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. 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. 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.

Entry informationi

Entry nameiDHCR7_HUMAN
AccessioniPrimary (citable) accession number: Q9UBM7
Secondary accession number(s): B2R6Z2, O60492, O60717
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 31, 2002
Last sequence update: May 1, 2000
Last modified: September 3, 2014
This is version 139 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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