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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SDR39U1 Gene

protein-coding   GIFtS: 44
GCID: GC14M024908

short chain dehydrogenase/reductase family 39U, member 1

(Previous name: chromosome 14 open reading frame 124 )
(Previous symbol: C14orf124)
 Explore 2 diseases affiliated with
SDR39U1 via our new
 Human Malady Compendium 
Biological research products
for SDR39U1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Short Chain Dehydrogenase/Reductase Family 39U, Member 11 2     Chromosome 14 Open Reading Frame 1241
C14orf1241 2 3     Epimerase Family Protein SDR39U12
HCDI1 2 3     EC 1.1.1.-3
Short-Chain Dehydrogenase/Reductase Family 39U Member 12 3     

External Ids:    HGNC: 202751   Entrez Gene: 569482   Ensembl: ENSG000001004457   UniProtKB: Q9NRG73   

Export aliases for SDR39U1 gene to outside databases

Previous GC identifers: GC14M023979 GC14M005023


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: D39U1_HUMAN, Q9NRG7
Function: Putative NADP-dependent oxidoreductase




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SDR39U1 gene promoter:
         Max1   AML1a   MAZR   Tal-1   POU3F1   E47   PPAR-gamma1   PPAR-gamma2   ATF6   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSDR39U1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SDR39U1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SDR39U1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q12   Ensembl cytogenetic band:  14q12   HGNC cytogenetic band: 14q12

SDR39U1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SDR39U1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M024908:  view genomic region     (about GC identifiers)

Start:
24,908,972 bp from pter      End:
24,912,111 bp from pter
Size:
3,140 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: D39U1_HUMAN, Q9NRG7 (See protein sequence)
Recommended Name: Epimerase family protein SDR39U1  
Size: 319 amino acids; 34748 Da
Miscellaneous: Despite its name, it shares more sequence similarity with the sugar epimerase family than with the
short-chain dehydrogenases/reductases (SDR) family
1 PDB 3D structure from and Proteopedia for SDR39U1:
4B4O (3D)    
Secondary accessions: Q6ZW71 Q9BVQ3
Alternative splicing: 3 isoforms:  Q9NRG7-1   Q9NRG7-2   Q9NRG7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SDR39U1: NX_Q9NRG7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NRG7

  • SDR39U1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_064580.2  
    ENSEMBL proteins: 
     ENSP00000382327   ENSP00000452499   ENSP00000446077   ENSP00000452438   ENSP00000451903  
     ENSP00000452076   ENSP00000450915   ENSP00000451593   ENSP00000450946   ENSP00000451275  
     ENSP00000382322  

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    Uscn Proteins for SDR39U1


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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SDR39U1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR010099 Sugar_nucleotide_Epase_put
     IPR013549 DUF1731_C
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q9NRG7

    ProtoNet protein and cluster: Q9NRG7

    UniProtKB/Swiss-Prot: D39U1_HUMAN, Q9NRG7
    Similarity: Belongs to the sugar epimerase family. SDR39U1 subfamily


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: D39U1_HUMAN, Q9NRG7
    Function: Putative NADP-dependent oxidoreductase

    Enzyme Number (IUBMB): EC 1.1.1.-1

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    hsa-miR-137
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SDR39U1

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0016491oxidoreductase activity IEA--


    SDR39U1 for ontologies           About GeneDecksing


    5 GenomeRNAi human phenotypes for SDR39U1:
     Decreased viability of wild-ty  G0/1 arrest  Increased G1 DNA content  Increased gamma-H2AX phosphory 
     Synthetic lethal with c-Myc af 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SDR39U1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for SDR39U1 (Q9NRG73 ENSP000003823274) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHDHQ8NE623I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    PPP1CCENSP000003350844STRING: ENSP00000335084
    --ENSP000003130264STRING: ENSP00000313026
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SDR39U1
    Search CenterWatch for drugs/clinical trials and news about SDR39U1 / D39U1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SDR39U1 gene: 
    NM_020195.2  

    Unigene Cluster for SDR39U1:

    Short chain dehydrogenase/reductase family 39U, member 1
    Hs.643552  [show with all ESTs]
    Unigene Representative Sequence: AF226050
    18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000544691 ENST00000399395(uc001wpm.3) ENST00000556548(uc001wpi.3)
    ENST00000553930 ENST00000556262 ENST00000538105 ENST00000554698 ENST00000556707
    ENST00000555365 ENST00000553546 ENST00000555561 ENST00000553343 ENST00000554947
    ENST00000556249 ENST00000555225 ENST00000555355 ENST00000556523 ENST00000555830


    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate SDR39U1:
    hsa-miR-137
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF226050.1 BC000989.2 BC008566.1 BX161384.1 

    21 DOTS entries:

    DT.100876010  DT.91899229  DT.75174154  DT.100858216  DT.100651003  DT.100642885  DT.120753170  DT.97855215 
    DT.100863684  DT.97855214  DT.319218  DT.92476524  DT.95326681  DT.95326700  DT.91940952  DT.100650997 
    DT.100651693  DT.100764222  DT.100871549  DT.100873406  DT.95326751 

    24/337 AceView cDNA sequences (see all 337):

    CR600486 BU734567 BU782816 CR615168 BF437685 CR623352 CR602789 BM704976 
    AI569601 CR590864 AA321535 BU781910 BX161384 CR608148 BU071253 BU729730 
    BU625116 BM704192 CR610185 CR616064 AK123513 CR592384 CR601098 T32715 

    GeneLoc Exon Structure

    5/14 Alternative Splicing Database (ASD) splice patterns (SP) for SDR39U1 (see all 14)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g · 6h · 6i
    SP1:                                -           -     -     -           -     -     -                                                               
    SP2:                                -           -     -     -           -     -     -                                                               
    SP3:                                -           -     -     -           -     -     -                                                               
    SP4:                                -           -     -     -     -     -     -     -                                                               
    SP5:                                -                       -     -     -     -     -                                                               


    ECgene alternative splicing isoforms for SDR39U1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SDR39U1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCCTGCAGCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    SDR39U1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Intervertebral disc (IVD) annulus fibrosus (AF) cells (Differentiation of s...)Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SDR39U1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SDR39U1

    SOURCE GeneReport for Unigene cluster: Hs.643552

    UniProtKB/Swiss-Prot: D39U1_HUMAN, Q9NRG7
    Tissue specificity: Expressed in adrenal gland

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SDR39U1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for SDR39U1 gene from 7/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sdr39u11 , 5 short chain dehydrogenase/reductase family 39U, member more1, 5 85.5(n)1
    84.93(a)1
      14 (28.19 cM)5
    6547951  NM_001082975.11  NP_001076444.11 
     558972865 
    lizard
    (Anolis carolinensis)
    Reptilia SDR39U16
    --
    61(a)
    1 ↔ 1
    GL343220.1(777892-784603)
    zebrafish
    (Danio rerio)
    Actinopterygii sdr39u11 short chain dehydrogenase/reductase family 39U, member more 59.05(n)
    55.71(a)
      767637  NM_001076578.1  NP_001070046.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG87681 CG8768 49.3(n)
    42.66(a)
      36400  NM_136969.3  NP_610813.3 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SULA1 Rossmann-fold NAD(P)-binding domain-containing protein 47.97(n)
    38.33(a)
      816667  NM_127700.3  NP_565505.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g08347001 hypothetical protein 45.8(n)
    35.31(a)
      4331275  NM_001055176.1  NP_001048641.1 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria yfcH6
    conserved protein with NAD(P)-binding Rossmann-fol...
    34(a)
    1 ↔ 1
    Chromosome(2419730-2420623)


    ENSEMBL Gene Tree for SDR39U1 (if available)
    TreeFam Gene Tree for SDR39U1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/56 NCBI SNPs in SDR39U1 are shown (see all 56    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs111587041,2
    C,F,H,--24911116(+) AATTTT/CGGCTT 1 -- int117Minor allele frequency- C:0.24EA NA WA CSA 594
    rs116288661,2
    C,F,H,--24911138(+) TCAACG/TTCTCC 1 -- int126Minor allele frequency- T:0.14NS EA NA WA CSA 2770
    rs111587051,2
    C,F,A,H,--24911169(+) ATTTCT/CTGGGC 1 -- int128Minor allele frequency- C:0.25NA NS EA WA CSA 2498
    rs1810472811,2
    --24911251(+) GGAGCA/CGAATG 1 -- int10--------
    rs1859323101,2
    --24911299(+) GCTCCA/GTTACC 1 -- int10--------
    rs2018890591,2
    --24911433(+) GGCATC/GGCAGC 2 H D mis10--------
    rs356690301,2
    C,F--24911449(-) GCATCG/CGGGCT 2 /S syn12Minor allele frequency- C:0.01NA EU 329
    rs115382551,2
    C,F,--24911452(-) GCTGCA/GTCGGG 2 A syn1 ese34Minor allele frequency- G:0.05NA WA EA EU 521
    rs2007620051,2
    --24911513(+) CGCCCA/TACTCT 1 -- int10--------
    rs1413117111,2
    --24911590(+) GACCAA/GCGTCA 2 L syn10--------

    HapMap Linkage Disequilibrium report for SDR39U1 (24908972 - 24912111 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SDR39U1: --

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SDR39U1
    DNA2.0 Custom Variant and Variant Library Synthesis for SDR39U1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SDR39U1 for disorders           About GeneDecksing

    2 diseases for SDR39U1:    About MalaCards
    tuberculosis    mycobacterium tuberculosis


    Export disorders for SDR39U1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SDR39U1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SDR39U1)
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    1. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 2, 3 Persson B.... Oppermann U. (2009)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    5. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)2 Heilig R.... Weissenbach J. (2003)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    9. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 56948 HGNC: 20275 AceView: C14orf124 Ensembl:ENSG00000100445 euGenes: HUgn56948
    ECgene: SDR39U1 H-InvDB: SDR39U1

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SDR39U1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SDR39U1 gene:
    Search GeneIP for patents involving SDR39U1

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