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    DHRS4L1 dehydrogenase/reductase 4 like 1 (pseudogene) [ Homo sapiens (human) ]

    Gene ID: 728635, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DHRS4L1provided by HGNC
    Official Full Name
    dehydrogenase/reductase 4 like 1 (pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:19732
    See related
    Ensembl:ENSG00000291039 MIM:615195; AllianceGenome:HGNC:19732
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SDR25C4
    Summary
    Predicted to enable carbonyl reductase (NADPH) activity. Predicted to be involved in retinal metabolic process. Predicted to be active in peroxisome. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in kidney (RPKM 9.5), liver (RPKM 3.5) and 24 other tissues See more
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    Genomic context

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    See DHRS4L1 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24007084..24051377)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18210753..18249694)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24476293..24520586)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903290 Neighboring gene dehydrogenase/reductase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5614 Neighboring gene dehydrogenase/reductase 4 like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8182 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8183 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24521876-24522575 Neighboring gene capping protein regulator and myosin 1 linker 3 Neighboring gene uncharacterized LOC105370412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8184 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:24544925-24546124 Neighboring gene copine 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. AS1DHRS4, a head-to-head natural antisense transcript, silences the DHRS4 gene cluster in cis and trans. Li Q, et al. Proc Natl Acad Sci U S A, 2012 Aug 28. PMID 22891334, Free PMC Article
    2. Bioinformatic analysis of the human DHRS4 gene cluster and a proposed mechanism for its transcriptional regulation. Su ZJ, et al. BMC Mol Biol, 2010 Jun 3. PMID 20525226, Free PMC Article
    3. Identification of peroxisomal proteins by using M13 phage protein VI phage display: molecular evidence that mammalian peroxisomes contain a 2,4-dienoyl-CoA reductase. Fransen M, et al. Biochem J, 1999 Jun 1. PMID 10333503, Free PMC Article
    4. Molecular and functional evolution of human DHRS2 and DHRS4 duplicated genes. Gabrielli F, et al. Gene, 2012 Dec 15. PMID 23036705
    5. The DNA sequence and analysis of human chromosome 14. Heilig R, et al. Nature, 2003 Feb 6. PMID 12508121

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DHRS4L1 is a duplicate syntenic form of the human DHRS4 gene.
      Title: Molecular and functional evolution of human DHRS2 and DHRS4 duplicated genes.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Other Names

    • putative dehydrogenase/reductase SDR family member 4-like 1
    • putative dehydrogenase/reductase SDR family member 4-like 2
    • short chain dehydrogenase/reductase family 25C member 4

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbonyl reductase (NADPH) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in retinal metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in peroxisome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    RNA

    1. NR_102687.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL136295, AL136419, GQ871921, GQ871924
      Related
      ENST00000830365.1

    2. NR_102688.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) uses an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL136419, GQ871924, GQ871925
      Related
      ENST00000830367.1

    3. NR_102689.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' structure compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      GQ871923
      Related
      ENST00000830376.1

    4. NR_102691.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' structure compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      GQ871922, GQ871924
      Related
      ENST00000830379.1

    5. NR_102692.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate 5' structure compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL136295, BC171914, GQ871924
      Related
      ENST00000559270.6

    6. NR_102693.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate 5' structure and uses an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL136295, BC171918, GQ871924
      Related
      ENST00000830378.1

    7. NR_102694.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate 5' structure and lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL136295, GQ871924, GQ871926
      Related
      ENST00000558622.6

    8. NR_171045.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL136295, AL136419

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      24007084..24051377
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654722.1 Reference GRCh38.p14 PATCHES

      Range
      313415..352355
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      18210753..18249694
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001082488.1: Suppressed sequence

      Description
      NM_001082488.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    2. NM_001277864.2: Suppressed sequence

      Description
      NM_001277864.2: This RefSeq was removed because it is now thought that this gene does not encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0CG22.1 GenPept UniProtKB/Swiss-Prot:P0CG22

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials