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

Summary

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 phenylpyruvate tautomerase activity. Predicted to be involved in melanin biosynthetic process. Located in extracellular exosome. [provided by Alliance of Genome Resources, Dec 2024]
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

Location:: 22q11.23

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (23966888..23972556)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (24369576..24379973)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (24309076..24314745)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

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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 EBI GWAS CatalogPubMed

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

D22S1558 (e-PCR)
- UniSTS:77321

STS-U49785 (e-PCR)
- UniSTS:63259

RH69708 (e-PCR)
- UniSTS:86719

SHGC-170343 (e-PCR)
- UniSTS:173779

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 more info	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

EC 4.1.1.-

XP_011528118.1

EC 4.1.1.-

XP_054185426.1

EC 4.1.1.-

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)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

23966888..23972556

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...