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DCT dopachrome tautomerase [ Homo sapiens (human) ]

Gene ID: 1638, updated on 10-Oct-2024

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, Apr 2022]
Expression
Restricted expression toward skin (RPKM 44.8) See more
Orthologs
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Genomic context

See DCT in Genome Data Viewer
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_000013.11Genomic Context describing neighboring genes Neighboring gene glypican 6 Neighboring gene RNA, 5S ribosomal pseudogene 35 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:94795799-94796732 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:94840401-94841316 Neighboring gene GPC6 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:94901699-94902296 Neighboring gene NANOG hESC enhancer GRCh37_chr13:94964513-94965082 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7864 Neighboring gene NANOG hESC enhancer GRCh37_chr13:94996270-94996868 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:95024062-95024724 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:95143673-95144872 Neighboring gene uncharacterized LOC124903191 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5434 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:95202297-95202796 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7866 Neighboring gene tRNA-Phe (anticodon GAA) 1-5 Neighboring gene TDP-glucose 4,6-dehydratase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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
NP_001309111.1
NP_001309112.1
NP_001309113.1
NP_001309114.1
NP_001309115.1
NP_001913.2
XP_011519351.1
XP_016875890.1
XP_047286071.1
XP_054230120.1
XP_054230121.1
XP_054230122.1
XP_054230123.1

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_001129889.3NP_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:180442
    Tyrosinase; Common central domain of tyrosinase
  2. NM_001322182.2NP_001309111.1  L-dopachrome tautomerase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL139318
    Conserved Domains (1) summary
    pfam00264
    Location:2498
    Tyrosinase; Common central domain of tyrosinase
  3. NM_001322183.2NP_001309112.1  L-dopachrome tautomerase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL139318
    Conserved Domains (1) summary
    pfam00264
    Location:2498
    Tyrosinase; Common central domain of tyrosinase
  4. NM_001322184.2NP_001309113.1  L-dopachrome tautomerase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL139318
    Conserved Domains (1) summary
    pfam00264
    Location:2498
    Tyrosinase; Common central domain of tyrosinase
  5. NM_001322185.2NP_001309114.1  L-dopachrome tautomerase isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL139318
    Conserved Domains (1) summary
    pfam00264
    Location:2498
    Tyrosinase; Common central domain of tyrosinase
  6. NM_001322186.2NP_001309115.1  L-dopachrome tautomerase isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL139318
    UniProtKB/TrEMBL
    A8KAQ0
    Conserved Domains (1) summary
    pfam00264
    Location:117346
    Tyrosinase; Common central domain of tyrosinase
  7. NM_001922.5NP_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:180409
    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

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    94436811..94549406 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521049.3XP_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:117346
    Tyrosinase; Common central domain of tyrosinase
  2. XM_017020401.3XP_016875890.1  L-dopachrome tautomerase isoform X3

    UniProtKB/TrEMBL
    A8KAQ0
  3. XM_047430115.1XP_047286071.1  L-dopachrome tautomerase isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    93640358..93752911 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_054374147.1XP_054230122.1  L-dopachrome tautomerase isoform X4

  3. XM_054374148.1XP_054230123.1  L-dopachrome tautomerase isoform X3

  4. XM_054374146.1XP_054230121.1  L-dopachrome tautomerase isoform X2