Human Gene SDR9C7 (uc010sqw.2) Description and Page Index
  Description: Homo sapiens short chain dehydrogenase/reductase family 9C, member 7 (SDR9C7), mRNA.
RefSeq Summary (NM_148897): This gene encodes a protein with similarity to the short-chain dehydrogenase/reductase (SDR) family but has not been shown to have retinoid or dehydrogenase activities. [provided by RefSeq, Apr 2010]. ##Evidence-Data-START## Transcript exon combination :: AK122782.1, SRR3476690.1008873.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145893, SAMEA2147596 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000293502.2/ ENSP00000293502.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr12:57,316,938-57,328,189 Size: 11,252 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr12:57,317,617-57,328,045 Size: 10,429 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:57,316,938-57,328,189)mRNA (may differ from genome)Protein (313 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKB

-  Comments and Description Text from UniProtKB
  ID: DR9C7_HUMAN
DESCRIPTION: RecName: Full=Short-chain dehydrogenase/reductase family 9C member 7; EC=1.1.1.-; AltName: Full=Orphan short-chain dehydrogenase/reductase; Short=SDR-O; AltName: Full=RDH-S;
FUNCTION: Displays weak conversion of all-trans-retinal to all- trans-retinol in the presence of NADH. Has apparently no steroid dehydrogenase activity.
SUBCELLULAR LOCATION: Cytoplasm. Note=Granular distribution in the whole cell.
TISSUE SPECIFICITY: Highly expressed in liver.
SIMILARITY: Belongs to the short-chain dehydrogenases/reductases (SDR) family.

-  MalaCards Disease Associations
  MalaCards Gene Search: SDR9C7
Diseases sorted by gene-association score: ichthyosis, congenital, autosomal recessive 13* (900), ichthyosis, congenital, autosomal recessive 7 (12), ichthyosis, congenital, autosomal recessive 1 (8), autosomal recessive congenital ichthyosis (1), congenital ichthyosiform erythroderma (1), fundus dystrophy (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 39.47 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 103.63 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -60.70144-0.422 Picture PostScript Text
3' UTR -206.80679-0.305 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002198 - DH_sc/Rdtase_SDR
IPR002347 - Glc/ribitol_DH
IPR016040 - NAD(P)-bd_dom
IPR020904 - Sc_DH/Rdtase_CS

Pfam Domains:
PF00106 - short chain dehydrogenase
PF13561 - Enoyl-(Acyl carrier protein) reductase

SCOP Domains:
51735 - NAD(P)-binding Rossmann-fold domains

ModBase Predicted Comparative 3D Structure on Q8NEX9
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene Details   Gene Details 
Gene Sorter   Gene Sorter 
    WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004745 retinol dehydrogenase activity
GO:0016491 oxidoreductase activity

Biological Process:
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  KJ895356 - Synthetic construct Homo sapiens clone ccsbBroadEn_04750 SDR9C7 gene, encodes complete protein.
AK122782 - Homo sapiens cDNA FLJ16333 fis, clone TESOP2002150, highly similar to Homo sapiens orphan short-chain dehydrogenase/reductase (SDR-O), mRNA.
BC101551 - Homo sapiens short chain dehydrogenase/reductase family 9C, member 7, mRNA (cDNA clone MGC:126600 IMAGE:8069057), complete cds.
BC101553 - Homo sapiens short chain dehydrogenase/reductase family 9C, member 7, mRNA (cDNA clone MGC:126602 IMAGE:8069059), complete cds.
AY044434 - Homo sapiens retinol dehydrogenase similar protein (RDHS) mRNA, complete cds.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8NEX9 (Reactome details) participates in the following event(s):

R-HSA-2454081 RDH5 oxidises 11cROL to 11cRAL
R-HSA-2453902 The canonical retinoid cycle in rods (twilight vision)
R-HSA-2187338 Visual phototransduction
R-HSA-418594 G alpha (i) signalling events
R-HSA-388396 GPCR downstream signalling
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B3KVB4, DR9C7_HUMAN, NM_148897, NP_683695, Q8NEX9, RDHS, SDRO
UCSC ID: uc010sqw.2
RefSeq Accession: NM_148897
Protein: Q8NEX9 (aka DR9C7_HUMAN)
CCDS: CCDS8926.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SDR9C7:
li-ar (Autosomal Recessive Congenital Ichthyosis)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_148897.2
exon count: 4CDS single in 3' UTR: no RNA size: 1765
ORF size: 942CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1769.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.