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    DDTL D-dopachrome tautomerase like [ Homo sapiens (human) ]

    Gene ID: 100037417, updated on 21-Dec-2019

    Summary

    Official Symbol
    DDTLprovided by HGNC
    Official Full Name
    D-dopachrome tautomerase likeprovided by HGNC
    Primary source
    HGNC:HGNC:33446
    See related
    Ensembl:ENSG00000099974
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DDT; KB-226F1.2
    Expression
    Ubiquitous expression in liver (RPKM 19.3), kidney (RPKM 12.1) and 25 other tissues See more
    Orthologs

    Genomic context

    See DDTL in Genome Data Viewer
    Location:
    22q11.23
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20191205 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (23966222..23972556)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (24308652..24314748)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene glutathione S-transferase theta-4-like Neighboring gene glutathione S-transferase theta 2B (gene/pseudogene) Neighboring gene D-dopachrome tautomerase Neighboring gene glutathione S-transferase theta 2 (gene/pseudogene) Neighboring gene glutathione S-transferase theta 4

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    lyase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome HDA PubMed 

    General protein information

    Preferred Names
    D-dopachrome decarboxylase-like protein
    Names
    D-dopachrome decarboxylase
    D-dopachrome tautomerase-like protein
    Phenylpyruvate tautomerase II
    NP_001077862.1
    XP_011528118.1

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001084393.2NP_001077862.1  D-dopachrome decarboxylase-like protein

      See identical proteins and their annotated locations for NP_001077862.1

      Status: VALIDATED

      Source sequence(s)
      AC253536, AI686044, DB157727
      Consensus CDS
      CCDS42988.1
      UniProtKB/Swiss-Prot
      A6NHG4
      UniProtKB/TrEMBL
      A0A0F7RPW6
      Related
      ENSP00000215770.5, ENST00000215770.6
      Conserved Domains (1) summary
      cl00235
      Location:295
      4Oxalocrotonate_Tautomerase; 4-Oxalocrotonate Tautomerase: Catalyzes the isomerization of unsaturated ketones. The structure is a homohexamer that is arranged as a trimer of dimers. The hexamer contains six active sites, each formed by residues from three monomers, two from one ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      23966222..23972556
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529816.3XP_011528118.1  D-dopachrome decarboxylase-like protein isoform X1

      See identical proteins and their annotated locations for XP_011528118.1

      UniProtKB/TrEMBL
      B5MC82
      Conserved Domains (1) summary
      cl00235
      Location:2100
      4Oxalocrotonate_Tautomerase; 4-Oxalocrotonate Tautomerase: Catalyzes the isomerization of unsaturated ketones. The structure is a homohexamer that is arranged as a trimer of dimers. The hexamer contains six active sites, each formed by residues from three monomers, two from one ...

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NT_187633.1 Reference GRCh38.p13 ALT_REF_LOCI_1

      Range
      203251..208920
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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