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

Gene ID: 100037417, updated on 8-Mar-2024

Summary

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Official Symbol
DDTLprovided by HGNC
Official Full Name
D-dopachrome tautomerase likeprovided by HGNC
Primary source
HGNC:HGNC:33446
See related
Ensembl:ENSG00000099974 AllianceGenome:HGNC:33446
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
Summary
Predicted to enable lyase activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in liver (RPKM 19.3), kidney (RPKM 12.1) and 25 other tissues See more
Orthologs
all
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Genomic context

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Location:
22q11.23
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (23966888..23972556)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (24369576..24379973)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (24309076..24314745)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene glutathione S-transferase theta-4-like Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:24293845-24294536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24294537-24295228 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24297463-24298070 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:24298071-24298678 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:24298679-24299286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24301603-24302268 Neighboring gene glutathione S-transferase theta 2B 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

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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. Genetic regulation of gene expression of MIF family members in lung tissue. Florez-Sampedro L, et al. Sci Rep, 2020 Oct 12. PMID 33046825, Free PMC Article
  2. Associations of common copy number variants in glutathione S-transferase mu 1 and D-dopachrome tautomerase-like protein genes with risk of schizophrenia in a Japanese population. Nakamura T, et al. Am J Med Genet B Neuropsychiatr Genet, 2015 Oct. PMID 26175060
  3. Structure and organization of the human theta-class glutathione S-transferase and D-dopachrome tautomerase gene complex. Coggan M, et al. Biochem J, 1998 Sep 15. PMID 9729470, Free PMC Article
  4. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Chambers JC, et al. Nat Genet, 2011 Oct 16. PMID 22001757, Free PMC Article
  5. The DNA sequence of human chromosome 22. Dunham I, et al. Nature, 1999 Dec 2. PMID 10591208

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genetic regulation of gene expression of MIF family members in lung tissue.
    Title: Genetic regulation of gene expression of MIF family members in lung tissue.
  2. Authors performed genetic case-control CNV analyses to test for possible associations between schizophrenia and CNVs for the three genes GSTT1, DDTL, and GSTM1 in Japanese patients.
    Title: Associations of common copy number variants in glutathione S-transferase mu 1 and D-dopachrome tautomerase-like protein genes with risk of schizophrenia in a Japanese population.
  3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables lyase activity IEA
Inferred from Electronic Annotation
more info
  
enables phenylpyruvate tautomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular exosome HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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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
XP_054185426.1

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.

mRNA and Protein(s)

  1. NM_001084393.2 → NP_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, B4DJJ7
    UniProtKB/TrEMBL
    A0A0F7RPW6
    Related
    ENSP00000215770.5, ENST00000215770.6
    Conserved Domains (1) summary
    cl00235
    Location:2 → 95
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    23966888..23972556
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529816.4 → XP_011528118.1  D-dopachrome decarboxylase-like protein isoform X1

    See identical proteins and their annotated locations for XP_011528118.1

    UniProtKB/TrEMBL
    B5MC82, B5MCS6
    Conserved Domains (1) summary
    cl00235
    Location:2 → 100
    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.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187633.1 Reference GRCh38.p14 ALT_REF_LOCI_1

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

mRNA and Protein(s)

  1. XM_054329451.1 → XP_054185426.1  D-dopachrome decarboxylase-like protein isoform X1

    UniProtKB/TrEMBL
    B5MC82, B5MCS6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    24369576..24379973
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6NHG4.1 GenPept UniProtKB/Swiss-Prot:A6NHG4

Gene LinkOut

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