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

Summary

Official Symbol: DDTprovided by HGNC
Official Full Name: D-dopachrome tautomeraseprovided by HGNC
Primary source: HGNC:HGNC:2732
See related: Ensembl:ENSG00000099977 MIM:602750; AllianceGenome:HGNC:2732
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: D-DT; DDCT; MIF2; MIF-2
Summary: D-dopachrome tautomerase converts D-dopachrome into 5,6-dihydroxyindole. The DDT gene is related to the migration inhibitory factor (MIF) in terms of sequence, enzyme activity, and gene structure. DDT and MIF are closely linked on chromosome 22. [provided by RefSeq, Jul 2008]
Expression: Broad expression in liver (RPKM 108.4), kidney (RPKM 65.2) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q11.23

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (23971370..23980504, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (24378787..24387911, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (24313559..24322695, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

D-dopachrome tautomerase in cardiovascular and inflammatory diseases-A new kid on the block or just another MIF?
Title: D-dopachrome tautomerase in cardiovascular and inflammatory diseases-A new kid on the block or just another MIF?
D-dopachrome tautomerase contributes to lung epithelial repair via atypical chemokine receptor 3-dependent Akt signaling.
Title: D-dopachrome tautomerase contributes to lung epithelial repair via atypical chemokine receptor 3-dependent Akt signaling.
A structurally preserved allosteric site in the MIF superfamily affects enzymatic activity and CD74 activation in D-dopachrome tautomerase.
Title: A structurally preserved allosteric site in the MIF superfamily affects enzymatic activity and CD74 activation in D-dopachrome tautomerase.
Knockdown of D-dopachrome Tautomerase Inhibits Cell Proliferation in Human HepG2 Cell Line.
Title: Knockdown of D-dopachrome Tautomerase Inhibits Cell Proliferation in Human HepG2 Cell Line.
Macrophage Migration Inhibitory Factor (MIF) and Its Homologue d-Dopachrome Tautomerase (DDT) Inversely Correlate with Inflammation in Discoid Lupus Erythematosus.
Title: Macrophage Migration Inhibitory Factor (MIF) and Its Homologue d-Dopachrome Tautomerase (DDT) Inversely Correlate with Inflammation in Discoid Lupus Erythematosus.
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.
Cardiomyocyte d-dopachrome tautomerase protects against heart failure.
Title: Cardiomyocyte d-dopachrome tautomerase protects against heart failure.
results show that the minor allele frequency of rs755622 and expression of DDT are significantly increased in males for MS subjects and this minor allele variant can significantly upregulate DDT expression for males but not females, which suggests that the regulation of DDT expression level by rs755622 can affect MS progression in males.
Title: Genetic Variant rs755622 Regulates Expression of the Multiple Sclerosis Severity Modifier D-Dopachrome Tautomerase in a Sex-Specific Way.
D-dopachrome tautomerase transcription may be regulated in a cell-dependent manner, and was enhanced by AMPK activation in SGBS adipocytes through inhibiting the mTOR signaling
Title: The AMPK/mTOR pathway is involved in D-dopachrome tautomerase gene transcription in adipocytes differentiated from SGBS cells, a human preadipocyte cell line.
The knockdown of D-DT and MIF, individually and additively, inhibited the proliferation, migration, and invasion in HeLa and SiHa cells and restrained the growth of xenograft tumor.
Title: Combined Knockdown of D-dopachrome Tautomerase and Migration Inhibitory Factor Inhibits the Proliferation, Migration, and Invasion in Human Cervical Cancer.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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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

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 D-dopachrome decarboxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables D-dopachrome decarboxylase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables cytokine receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables dopachrome isomerase activity	TAS Traceable Author Statement more info	PubMed
enables phenylpyruvate tautomerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phenylpyruvate tautomerase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in melanin biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of macrophage chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of inflammatory response	IC Inferred by Curator more info	PubMed
involved_in positive regulation of tumor necrosis factor production	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: D-dopachrome decarboxylase

Names: phenylpyruvate tautomerase II

NP_001077861.1

EC 4.1.1.84

NP_001346.1

EC 4.1.1.84

NP_001368781.1

EC 4.1.1.84

NP_001384414.1

EC 4.1.1.84

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_001084392.3 → NP_001077861.1 D-dopachrome decarboxylase isoform a

See identical proteins and their annotated locations for NP_001077861.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AC253536

Consensus CDS

CCDS13820.1

UniProtKB/Swiss-Prot

B7Z522, O00774, O60787, P30046, Q13534

UniProtKB/TrEMBL

J3KQ18, Q53Y51

Related

ENSP00000381386.4, ENST00000398344.9

Conserved Domains (1) summary

pfam01187
Location:2 → 116

MIF; Macrophage migration inhibitory factor (MIF)
NM_001355.4 → NP_001346.1 D-dopachrome decarboxylase isoform a

See identical proteins and their annotated locations for NP_001346.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AP000351, CA414359, U49785

Consensus CDS

CCDS13820.1

UniProtKB/Swiss-Prot

B7Z522, O00774, O60787, P30046, Q13534

UniProtKB/TrEMBL

J3KQ18, Q53Y51

Related

ENSP00000215773.4, ENST00000350608.7

Conserved Domains (1) summary

pfam01187
Location:2 → 116

MIF; Macrophage migration inhibitory factor (MIF)
NM_001381852.2 → NP_001368781.1 D-dopachrome decarboxylase isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (3) encodes the longer isoform (b).

Source sequence(s)

AC253536

Consensus CDS

CCDS93131.1

UniProtKB/TrEMBL

B5MC82, B5MCS6

Related

ENSP00000384866.3, ENST00000403754.7

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 ...
NM_001397485.1 → NP_001384414.1 D-dopachrome decarboxylase isoform a

Status: REVIEWED

Source sequence(s)

AC253536

Consensus CDS

CCDS13820.1

UniProtKB/Swiss-Prot

B7Z522, O00774, O60787, P30046, Q13534

UniProtKB/TrEMBL

J3KQ18, Q53Y51

Related

ENSP00000515591.1, ENST00000703965.1

Conserved Domains (1) summary

pfam01187
Location:2 → 116

MIF; Macrophage migration inhibitory factor (MIF)