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    DCT dopachrome tautomerase [ Homo sapiens (human) ]

    Gene ID: 1638, updated on 6-Jun-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DCT in Genome Data Viewer
    Location:
    13q32.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (94436811..94549406, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (93640358..93752911, complement)
    105.20220307 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
    • 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)

    NEW Try the new Transcript table

    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_2023_10

    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

      UniProtKB/TrEMBL
      A8KAQ0
    2. XM_054374147.1XP_054230122.1  L-dopachrome tautomerase isoform X4

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

      UniProtKB/TrEMBL
      A8KAQ0
    4. XM_054374146.1XP_054230121.1  L-dopachrome tautomerase isoform X2