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DHRS4L1 Gene

pseudogene   GIFtS: 36
GCID: GC14P024505

Dehydrogenase/Reductase (SDR Family) Member 4 Like 1

  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)
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Aliases
Dehydrogenase/Reductase (SDR Family) Member 4 Like 11 2     Putative Dehydrogenase/Reductase SDR Family Member 4-Like 22
Member 41     Short Chain Dehydrogenase/Reductase Family 25C, Member 42
Short Chain Dehydrogenase/Reductase Family 25C1     EC 1.1.-.-3
SDR25C42     

External Ids:    HGNC: 197321   Entrez Gene: 7286352   Ensembl: ENSG000002257667   OMIM: 6151955   UniProtKB: P0CG223   

Export aliases for DHRS4L1 gene to outside databases

Previous GC identifers: GC00U906276 GC14U900438 GC14P023577 GC14P004620


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for DHRS4L1 Gene:
DHRS4L1 (dehydrogenase/reductase (SDR family) member 4 like 1) is a pseudogene. Diseases associated with DHRS4L1 include tuberculosis. GO annotations related to this gene include oxidoreductase activity.

UniProtKB/Swiss-Prot: DR4L1_HUMAN, P0CG22
Function: Putative oxidoreductase (By similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DHRS4L1 gene promoter:
         TBP   USF1   USF2   USF-1:USF-2   POU6F1 (c2)   HEN1   TFIID   USF-1   Cart-1   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for DHRS4L1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DHRS4L1


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

Entrez Gene cytogenetic band: 14q11.2   Ensembl cytogenetic band:  14q11.2   HGNC cytogenetic band: 14q11.2

DHRS4L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DHRS4L1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P024505:  view genomic region     (about GC identifiers)

Start:
24,505,662 bp from pter      End:
24,520,580 bp from pter
Size:
14,919 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DR4L1_HUMAN, P0CG22 (See protein sequence)
Recommended Name: Putative dehydrogenase/reductase SDR family member 4-like 2  
Size: 281 amino acids; 30608 Da
Caution: Product of a dubious CDS prediction

Explore the universe of human proteins at neXtProt for DHRS4L1: NX_P0CG22

Explore proteomics data for DHRS4L1 at MOPED


See DHRS4L1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001264793.1  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
SDRC1: Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1

3 InterPro protein domains:
 IPR020904 Sc_DH/Rdtase_CS
 IPR002347 Glc/ribitol_DH
 IPR016040 NAD(P)-bd_dom

Graphical View of Domain Structure for InterPro Entry P0CG22

ProtoNet protein and cluster: P0CG22

UniProtKB/Swiss-Prot: DR4L1_HUMAN, P0CG22
Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family


DHRS4L1 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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: DR4L1_HUMAN, P0CG22
Function: Putative oxidoreductase (By similarity)

     Enzyme Number (IUBMB): EC 1.1.-.-1

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016491oxidoreductase activity IEA--
     
DHRS4L1 for ontologies           About GeneDecksing


Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2
peroxisome2
extracellular1
mitochondrion1

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for DHRS4L1 About    
See pathways by source

SuperPathContained pathways About
1Metabolism
Metabolic pathways0.38
2Chemical carcinogenesis
Retinol metabolism0.35
3Peroxisome
Peroxisome

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



3 Kegg Pathways  (Kegg details for DHRS4L1):
    Retinol metabolism
Metabolic pathways
Peroxisome


DHRS4L1 for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DHRS4L1
Interactions:

    Search GeneGlobe Interaction Network for DHRS4L1

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for DHRS4L1 (DR4L1)

5 DrugBank Compounds for DHRS4L1    About this table
CompoundSynonyms CAS #TypeActionsPubMed Ids
10-Propargyl-5,8-Dideazafolic Acid-- --target--10592235
2'-Monophosphoadenosine 5'-Diphosphoribose-- --target--10592235
2,4,6-Triaminoquinazoline-- --target--10592235
METHYL 1-(4-{[(2,4-DIAMINOPTERIDIN-6-YL)METHYL](METHYL)AMINO}BENZOYL)PIPERIDINE-4-CARBOXYLATE-- --target--10592235
METHYL 1-(4-{[(2,4-DIAMINOPTERIDIN-6-YL)METHYL]AMINO}BENZOYL)PIPERIDINE-4-CARBOXYLATE-- --target--10592235



(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for DHRS4L1 gene (2 alternative transcripts): 
NM_001082488.1  NM_001277864.1  

Unigene Cluster for DHRS4L1:

Dehydrogenase/reductase (SDR family) member 4 like 1
Hs.647569  [show with all ESTs]
Unigene Representative Sequence: BX647440
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000559270(uc021rrg.1 uc021rrh.1 uc021rri.1 uc021rrj.1)
ENST00000558293(uc010tnu.2) ENST00000558682 ENST00000558622 ENST00000397065(uc021rrd.1 uc010alc.3)
ENST00000606840
miRNA
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hsa-miR-4291 hsa-miR-1266 hsa-miR-214 hsa-miR-2355-5p hsa-miR-330-3p hsa-miR-3153 hsa-miR-761 hsa-miR-450b-5p
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Pre-validated RT2 qPCR Primer Assay in human, mouse / rat DHRS4L1
  QuantiTect SYBR Green Assays in human, mouse, rat DHRS4L1
  QuantiFast Probe-based Assays in human, mouse, rat DHRS4L1

Additional mRNA sequence: 

BC171914.1 BC171918.1 BX647440.1 GQ871921.1 GQ871922.1 GQ871923.1 GQ871924.1 GQ871925.1 
GQ871926.1 GQ871927.1 

6 DOTS entries:

DT.40286930  DT.97790439  DT.100800245  DT.40230863  DT.447164  DT.100825829 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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DHRS4L1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
DHRS4L1 Expression
About this image

DHRS4L1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

DHRS4L1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.647569
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Primer
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QuantiFast Probe-based Assays in human, mouse, rat DHRS4L1
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHRS4L1

(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)
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ENSEMBL Gene Tree for DHRS4L1 (if available)
TreeFam Gene Tree for DHRS4L1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for DHRS4L1 gene
5 SIMAP similar genes for DHRS4L1 using alignment to 1 protein entry:     DR4L1_HUMAN:
DHRS4L2    DHRS2    DHRS4    CBR4    DCXR

DHRS4L1 for paralogs           About GeneDecksing



(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for DHRS4L1 (see all 901)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 14 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1490289891,2
Cuntested124517095(+) TTCTGA/GGCCAA 8 -- int10--------
rs1848290131,2
C--24476128(+) CTCACA/GCCGAC 3 -- us2k10--------
rs1488898091,2
C--24476433(+) GGTCAC/GGGTGG 3 -- ut51 nc-transcript-variant0--------
rs1892045811,2
--24476574(+) CACCCC/GGCTAC 3 -- ut51 nc-transcript-variant0--------
rs1390080861,2
--24476597(+) GACTCC/TAAGGC 3 -- ut51 nc-transcript-variant0--------
rs3739787051,2
C--24476689(+) GGCCG-/GGGGGGGG 4 -- int1 cds10--------
rs1818082901,2
--24476714(+) CATCAA/GTTAAC 3 -- int10--------
rs1406329781,2
--24476720(+) TTAACC/GGGGCC 3 -- int10--------
rs1504493101,2
--24476722(+) AACGGC/GGCCGT 3 -- int10--------
rs40485871,2
C--24476732(+) tggggG/Aaagga 3 -- int11Minor allele frequency- A:0.00NA 2

HapMap Linkage Disequilibrium report for DHRS4L1 (24505662 - 24520580 bp)

Structural Variations
     Database of Genomic Variants (DGV) 8 variations for DHRS4L1:    About this table    
Variant IDTypeSubtypePubMed ID
esv2748488CNV Deletion23290073
esv272219CNV Insertion20981092
nsv826901CNV Loss20364138
nsv516023CNV Loss19592680
nsv1217CNV Loss18451855
nsv482170CNV Gain20164927
nsv901497CNV Gain21882294
nsv9126CNV Gain18304495

Human Gene Mutation Database (HGMD): DHRS4L1
Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing DHRS4L1
DNA2.0 Custom Variant and Variant Library Synthesis for DHRS4L1

(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.)
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OMIM gene information: 615195    OMIM disorders: --

1 disease for DHRS4L1:    
About MalaCards
tuberculosis


DHRS4L1 for disorders           About GeneDecksing


Export disorders for DHRS4L1 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)
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PubMed articles for DHRS4L1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with DHRS4L1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. AS1DHRS4, a head-to-head natural antisense transcript, silences the DHRS4 gene cluster in cis and trans. (PubMed id 22891334)1, 3 Li Q....Huang D. (Proc. Natl. Acad. Sci. U.S.A. 2012)
  2. Bioinformatic analysis of the human DHRS4 gene cluster and a proposed mechanism for its transcriptional regulation. (PubMed id 20525226)1, 3 Su Z.J....Huang D.Y. (BMC Mol. Biol. 2010)
  3. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)1, 2 Heilig R.... Weissenbach J. (Nature 2003)
  4. Identification of peroxisomal proteins by using M13 phage protein VI phage display: molecular evidence that mammalian peroxisomes contain a 2,4-dienoyl-CoA reductase. (PubMed id 10333503)1, 3 Fransen M.... Subramani S. (Biochem. J. 1999)
  5. Molecular and functional evolution of human DHRS2 and DHRS4 duplicated genes. (PubMed id 23036705)1 Gabrielli F. and Tofanelli S. (Gene 2012)
  6. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
  7. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  8. The Protein Data Bank. (PubMed id 10592235)7 Berman H.M....Bourne P.E. (Nucleic Acids Res. 2000)

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

  Query String
PubMed
OMIM
NCBI Bookshelf
  (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)
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Entrez Gene: 728635 HGNC: 19732 Ensembl:ENSG00000225766 euGenes: HUgn728635 ECgene: DHRS4L1 Kegg: 728635
H-InvDB: DHRS4L1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for DHRS4L1 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 DHRS4L1 gene:
Search GeneIP for patents involving DHRS4L1

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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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