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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)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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
Short-Chain Dehydrogenase/Reductase Family 39U Member 12 3     EC 1.1.1.-3
HCDI2 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

GeneCards Summary for SDR39U1 Gene: 
SDR39U1 (short chain dehydrogenase/reductase family 39U, member 1) is a protein-coding gene. Diseases associated with SDR39U1 include tuberculosis. GO annotations related to this gene include oxidoreductase activity and nucleotide binding.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for SDR39U1 at MOPED 

Post-translational modifications:

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

  • SDR39U1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SDR39U1 Protein Expression
    REFSEQ proteins: NP_064580.2  
    ENSEMBL proteins: 
     ENSP00000382327   ENSP00000452499   ENSP00000446077   ENSP00000452438   ENSP00000451903  
     ENSP00000452076   ENSP00000450915   ENSP00000451593   ENSP00000450946   ENSP00000451275  
     ENSP00000382322  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SDRA: Short chain dehydrogenase/reductase superfamily / Atypical members

    3 InterPro protein domains:
     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


    SDR39U1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

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

         Enzyme Number (IUBMB): EC 1.1.1.-1

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0016491oxidoreductase activity IEA--
    GO:0050662coenzyme binding ----
         
    SDR39U1 for ontologies           About GeneDecksing


    Phenotypes:
         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 

    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SDR39U1 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 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

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0044237cellular metabolic process ----

    SDR39U1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 (D39U1)

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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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 mRNA 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):

    AI569601 CR615168 BU782816 CR602789 CR600486 BM704976 CR592384 BF437685 
    CR601098 CR623352 BM704192 AK123513 CR610185 BU625116 BU729730 BU071253 
    CR608148 BX161384 CR590864 AA321535 CR616064 BU734567 BU781910 AA565638 

    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)      SDR39U1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCTGCAGCT
    SDR39U1 Expression
    About this image


    SDR39U1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Brain (Nervous System)
             Striatum

    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

        SABiosciences Custom PCR Arrays for SDR39U1
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    In Situ
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    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 common ancestor of eukaryotes.

    Orthologs for SDR39U1 gene from 6/13 species (see all 13)    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
    Uncharacterized protein
    66(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 


    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, 4UniProtKB, 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

    10/87 SNPs in SDR39U1 are shown (see all 87)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0574664
    ----see VAR_0574662 L F mis40--------
    VAR_0606234
    ----see VAR_0606232 I L mis40--------
    VAR_0606244
    ----see VAR_0606242 Q R mis40--------
    VAR_0574654
    ----see VAR_0574652 G V mis40--------
    rs111587091,2
    C,F,H--5911449(+) agataT/Cagata 1 -- us2k130Minor allele frequency- C:0.16NS EA NA WA CSA 2784
    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--------

    HapMap Linkage Disequilibrium report for SDR39U1 (24908972 - 24912111 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SDR39U1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv482171CNV Loss20164927

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for SDR39U1:    About MalaCards
    tuberculosis    


    SDR39U1 for disorders           About GeneDecksing


    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)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. Identification of the human testis protein phosphatase 1 interactome. (PubMed id 21382349)1 Fardilha M....Silva E.F. (2011)
    8. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)2 Heilig R.... Weissenbach J. (2003)
    9. 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)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
    About This Section
      --

    (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.)
    About This Section
    Patent Information for SDR39U1 gene:
    Search GeneIP for patents involving SDR39U1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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