DCT dopachrome tautomerase [Homo sapiens (human)] - Gene

Summary

Official Symbol: DCTprovided by HGNC
Official Full Name: dopachrome tautomeraseprovided by HGNC
Primary source: HGNC:HGNC:2709
See related: Ensembl:ENSG00000080166 MIM:191275; AllianceGenome:HGNC:2709
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: OCA8; TRP-2; TYRP2
Summary: Predicted to enable dopachrome isomerase activity. Involved in response to blue light. Located in intracellular membrane-bounded organelle and plasma membrane. Implicated in oculocutaneous albinism. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Restricted expression toward skin (RPKM 44.8) See more
Orthologs: mouse all
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Genomic context

Location:: 13q32.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (94436811..94549406, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (93640358..93752911, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (95089065..95201660, complement)

Chromosome 13 - NC_000013.11 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?

Dopachrome tautomerase is a retinoblastoma-specific gene, and its proximal promoter is preferentially active in human retinoblastoma cells.
Title: Dopachrome tautomerase is a retinoblastoma-specific gene, and its proximal promoter is preferentially active in human retinoblastoma cells.
Protein Biochemistry and Molecular Modeling of the Intra-Melanosomal Domain of Human Recombinant Tyrp2 Protein and OCA8-Related Mutant Variants.
Title: Protein Biochemistry and Molecular Modeling of the Intra-Melanosomal Domain of Human Recombinant Tyrp2 Protein and OCA8-Related Mutant Variants.
Identification of TYR, TYRP1, DCT and LARP7 as related biomarkers and immune infiltration characteristics of vitiligo via comprehensive strategies.
Title: Identification of TYR, TYRP1, DCT and LARP7 as related biomarkers and immune infiltration characteristics of vitiligo via comprehensive strategies.
Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.
Title: Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.
Evaluation of the effect of narrow band-ultraviolet B on the expression of tyrosinase, TYRP-1, and TYRP-2 mRNA in vitiligo skin and their correlations with clinical improvement: A retrospective study.
Title: Evaluation of the effect of narrow band-ultraviolet B on the expression of tyrosinase, TYRP-1, and TYRP-2 mRNA in vitiligo skin and their correlations with clinical improvement: A retrospective study.
TGF-beta and GLI2-specific TRP2 repression in melanoma cells involves direct mechanisms that occur in addition to MITF downregulation by TGF-beta and GLI2. Two functional GLI2 binding sites identified within the TRP2 promoter that are critical for TGF-beta and GLI2 responsiveness, one of them overlapping a CREB binding site. GLI2 and CREB competing for the same cis-element is associated with opposite transcriptional ou...
Title: Transcriptional repression of the tyrosinase-related protein 2 gene by transforming growth factor-β and the Kruppel-like transcription factor GLI2.
High DCT expression is associated with progressive multiple sclerosis.
Title: MIF and D-DT are potential disease severity modifiers in male MS subjects.
High DCT expression is associated with HPV16 Infection.
Title: The Role of DCT in HPV16 Infection of HaCaTs.
Data indicate that the caveolin-1 (CAV1) control on dopachrome tautomerase (DCT) gene expression, DCT post-translational processing, and subcellular distribution is cell phenotype-dependent.
Title: Cross-talk between Dopachrome Tautomerase and Caveolin-1 Is Melanoma Cell Phenotype-specific and Potentially Involved in Tumor Progression.
The effect of DCT on UVR DNA damage responses and survival pathways in melanocytes was examined by knockdown experiments using melanoma cells, neonatal melanoblasts in monoculture and in co-culture with keratinocytes.
Title: DCT protects human melanocytic cells from UVR and ROS damage and increases cell viability.

Submit: New GeneRIF Correction See all GeneRIFs (27)

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

Associated conditions

Description	Tests
Oculocutaneous albinism type 8 MedGen: C5436929 OMIM: 619165 GeneReviews: Oculocutaneous Albinism and Ocular Albinism Overview	Compare labs

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

SHGC-36410 (e-PCR)
- UniSTS:77844

RH39628 (e-PCR)
- UniSTS:90407

PMC108780P1 (e-PCR)
- UniSTS:270142

D13S1166 (e-PCR)
- UniSTS:3228

SHGC-54546 (e-PCR)
- UniSTS:16081

RH80082 (e-PCR)
- UniSTS:88534

DCT__4681 (e-PCR)
- UniSTS:463580

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables copper ion binding	TAS Traceable Author Statement more info	PubMed
enables dopachrome isomerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables dopachrome isomerase activity	ISS Inferred from Sequence or Structural Similarity more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell development	IEA Inferred from Electronic Annotation more info
involved_in developmental pigmentation	IBA Inferred from Biological aspect of Ancestor more info
involved_in epidermis development	TAS Traceable Author Statement more info	PubMed
involved_in melanin biosynthetic process from tyrosine	IBA Inferred from Biological aspect of Ancestor more info
involved_in melanin biosynthetic process from tyrosine	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neuroblast proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to blue light	IDA Inferred from Direct Assay more info	PubMed
involved_in ventricular zone neuroblast division	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in melanosome	IBA Inferred from Biological aspect of Ancestor more info
located_in melanosome	ISS Inferred from Sequence or Structural Similarity more info
located_in melanosome membrane	TAS Traceable Author Statement more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: L-dopachrome tautomerase

Names: DT; L-dopachrome Delta-isomerase; L-dopachrome isomerase; TRP2; dopachrome delta-isomerase; dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2); tyrosinase related protein-2; tyrosine-related protein 2

NP_001123361.1

EC 5.3.3.12

NP_001309111.1

EC 5.3.3.12

NP_001309112.1

EC 5.3.3.12

NP_001309113.1

EC 5.3.3.12

NP_001309114.1

EC 5.3.3.12

NP_001309115.1

EC 5.3.3.12

NP_001913.2

EC 5.3.3.12

XP_011519351.1

EC 5.3.3.12

XP_016875890.1

EC 5.3.3.12

XP_047286071.1

EC 5.3.3.12

XP_054230120.1

EC 5.3.3.12

XP_054230121.1

EC 5.3.3.12

XP_054230122.1

EC 5.3.3.12

XP_054230123.1

EC 5.3.3.12

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_001129889.3 → NP_001123361.1 L-dopachrome tautomerase isoform 2 precursor

See identical proteins and their annotated locations for NP_001123361.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) includes two alternate in-frame exons and is predicted to encode a slightly longer protein isoform (2) compared to isoform 1.

Source sequence(s)

AL139318

Consensus CDS

CCDS45060.1

UniProtKB/TrEMBL

A8KAQ0

Related

ENSP00000392762.1, ENST00000446125.1

Conserved Domains (1) summary

pfam00264
Location:180 → 442

Tyrosinase; Common central domain of tyrosinase
NM_001322182.2 → NP_001309111.1 L-dopachrome tautomerase isoform 3

Status: VALIDATED

Source sequence(s)

AL139318

Conserved Domains (1) summary

pfam00264
Location:24 → 98

Tyrosinase; Common central domain of tyrosinase
NM_001322183.2 → NP_001309112.1 L-dopachrome tautomerase isoform 3

Status: VALIDATED

Source sequence(s)

AL139318

Conserved Domains (1) summary

pfam00264
Location:24 → 98

Tyrosinase; Common central domain of tyrosinase
NM_001322184.2 → NP_001309113.1 L-dopachrome tautomerase isoform 3

Status: VALIDATED

Source sequence(s)

AL139318

Conserved Domains (1) summary

pfam00264
Location:24 → 98

Tyrosinase; Common central domain of tyrosinase
NM_001322185.2 → NP_001309114.1 L-dopachrome tautomerase isoform 3

Status: VALIDATED

Source sequence(s)

AL139318

Conserved Domains (1) summary

pfam00264
Location:24 → 98

Tyrosinase; Common central domain of tyrosinase
NM_001322186.2 → NP_001309115.1 L-dopachrome tautomerase isoform 4

Status: VALIDATED

Source sequence(s)

AL139318

UniProtKB/TrEMBL

A8KAQ0

Conserved Domains (1) summary

pfam00264
Location:117 → 346

Tyrosinase; Common central domain of tyrosinase
NM_001922.5 → NP_001913.2 L-dopachrome tautomerase isoform 1 precursor

See identical proteins and their annotated locations for NP_001913.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the more abundant transcript.

Source sequence(s)

AL139318

Consensus CDS

CCDS9470.1

UniProtKB/Swiss-Prot

P40126, Q09GT4

UniProtKB/TrEMBL

A8KAQ0

Related

ENSP00000366227.4, ENST00000377028.10

Conserved Domains (1) summary

pfam00264
Location:180 → 409

Tyrosinase; Common central domain of tyrosinase

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_000013.11 Reference GRCh38.p14 Primary Assembly

Range

94436811..94549406 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011521049.3 → XP_011519351.1 L-dopachrome tautomerase isoform X1

See identical proteins and their annotated locations for XP_011519351.1

UniProtKB/TrEMBL

A8KAQ0

Conserved Domains (1) summary

pfam00264
Location:117 → 346

Tyrosinase; Common central domain of tyrosinase
XM_017020401.3 → XP_016875890.1 L-dopachrome tautomerase isoform X3

UniProtKB/TrEMBL

A8KAQ0
XM_047430115.1 → XP_047286071.1 L-dopachrome tautomerase isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060937.1 Alternate T2T-CHM13v2.0

Range

93640358..93752911 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054374145.1 → XP_054230120.1 L-dopachrome tautomerase isoform X1

UniProtKB/TrEMBL

A8KAQ0
XM_054374147.1 → XP_054230122.1 L-dopachrome tautomerase isoform X4
XM_054374148.1 → XP_054230123.1 L-dopachrome tautomerase isoform X3

UniProtKB/TrEMBL

A8KAQ0
XM_054374146.1 → XP_054230121.1 L-dopachrome tautomerase isoform X2