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    DTWD1 DTW domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 56986, updated on 28-Oct-2024

    Summary

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    Official Symbol
    DTWD1provided by HGNC
    Official Full Name
    DTW domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:30926
    See related
    Ensembl:ENSG00000104047 AllianceGenome:HGNC:30926
    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
    MDS009
    Summary
    Enables tRNA-uridine aminocarboxypropyltransferase activity. Involved in tRNA modification. Located in nucleus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in endometrium (RPKM 2.7), gall bladder (RPKM 2.4) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See DTWD1 in Genome Data Viewer
    Location:
    15q21.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (49621048..49656232)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (47429406..47464635)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (49913245..49948429)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 227 member B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9387 Neighboring gene fibroblast growth factor 7 Neighboring gene uncharacterized LOC105370811 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9388 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:49917323-49918522 Neighboring gene NANOG hESC enhancer GRCh37_chr15:49990770-49991300 Neighboring gene ring finger protein, LIM domain interacting pseudogene 3 Neighboring gene uncharacterized LOC102724587 Neighboring gene ATPase phospholipid transporting 8B4 (putative)

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Inactivating mutations of tumor suppressor genes KLOTHO and DTWD1 in colorectal cancers. Son HJ, et al. Pathol Res Pract, 2020 Feb. PMID 31924336
    2. Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D. Clark SL, et al. Psychol Med, 2012 Jun. PMID 22041458, Free PMC Article
    3. Biogenesis and functions of aminocarboxypropyluridine in tRNA. Takakura M, et al. Nat Commun, 2019 Dec 5. PMID 31804502, Free PMC Article
    4. The Oncogenic PRL Protein Causes Acid Addiction of Cells by Stimulating Lysosomal Exocytosis. Funato Y, et al. Dev Cell, 2020 Nov 23. PMID 32918875
    5. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. Tomkins JE, et al. Proteomics, 2018 May. PMID 29513927, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Inactivating mutations of tumor suppressor genes KLOTHO and DTWD1 in colorectal cancers.
      Title: Inactivating mutations of tumor suppressor genes KLOTHO and DTWD1 in colorectal cancers.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC111207

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables tRNA-uridine aminocarboxypropyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables tRNA-uridine aminocarboxypropyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in tRNA modification IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in tRNA modification IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tRNA-uridine aminocarboxypropyltransferase 1
    Names
    DTW domain-containing protein 1
    x 009 protein
    NP_001138427.1
    NP_064619.2
    XP_011520117.1
    XP_016877912.1
    XP_016877913.1
    XP_016877914.1
    XP_016877915.1
    XP_047288835.1
    XP_047288836.1
    XP_047288837.1
    XP_054234453.1
    XP_054234454.1
    XP_054234455.1
    XP_054234456.1
    XP_054234457.1
    XP_054234458.1
    XP_054234459.1
    XP_054234460.1

    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_001144955.2 → NP_001138427.1  tRNA-uridine aminocarboxypropyltransferase 1

      See identical proteins and their annotated locations for NP_001138427.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC018927
      Consensus CDS
      CCDS10132.1
      UniProtKB/Swiss-Prot
      Q567Q3, Q8N5C7, Q8WVG9, Q9NRU6
      UniProtKB/TrEMBL
      A8K2B9
      Related
      ENSP00000385399.3, ENST00000403028.8
      Conserved Domains (1) summary
      pfam03942
      Location:66 → 289
      DTW; DTW domain

    2. NM_020234.6 → NP_064619.2  tRNA-uridine aminocarboxypropyltransferase 1

      See identical proteins and their annotated locations for NP_064619.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript.
      Source sequence(s)
      AC018927
      Consensus CDS
      CCDS10132.1
      UniProtKB/Swiss-Prot
      Q567Q3, Q8N5C7, Q8WVG9, Q9NRU6
      UniProtKB/TrEMBL
      A8K2B9
      Related
      ENSP00000251250.6, ENST00000251250.7
      Conserved Domains (1) summary
      pfam03942
      Location:66 → 289
      DTW; DTW domain

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      49621048..49656232
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017022426.2 → XP_016877915.1  tRNA-uridine aminocarboxypropyltransferase 1 isoform X2

      Conserved Domains (1) summary
      pfam03942
      Location:66 → 222
      DTW; DTW domain

    2. XM_047432881.1 → XP_047288837.1  tRNA-uridine aminocarboxypropyltransferase 1 isoform X2

    3. XM_017022425.2 → XP_016877914.1  tRNA-uridine aminocarboxypropyltransferase 1 isoform X2

      Conserved Domains (1) summary
      pfam03942
      Location:66 → 222
      DTW; DTW domain

    4. XM_011521815.3 → XP_011520117.1  tRNA-uridine aminocarboxypropyltransferase 1 isoform X2

      Conserved Domains (1) summary
      pfam03942
      Location:66 → 222
      DTW; DTW domain

    5. XM_047432880.1 → XP_047288836.1  tRNA-uridine aminocarboxypropyltransferase 1 isoform X1

    6. XM_047432879.1 → XP_047288835.1  tRNA-uridine aminocarboxypropyltransferase 1 isoform X1

    7. XM_017022424.2 → XP_016877913.1  tRNA-uridine aminocarboxypropyltransferase 1 isoform X1

    8. XM_017022423.3 → XP_016877912.1  tRNA-uridine aminocarboxypropyltransferase 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      47429406..47464635
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378481.1 → XP_054234456.1  tRNA-uridine aminocarboxypropyltransferase 1 isoform X1

    2. XM_054378479.1 → XP_054234454.1  tRNA-uridine aminocarboxypropyltransferase 1 isoform X1

    3. XM_054378483.1 → XP_054234458.1  tRNA-uridine aminocarboxypropyltransferase 1 isoform X2

    4. XM_054378485.1 → XP_054234460.1  tRNA-uridine aminocarboxypropyltransferase 1 isoform X2

    5. XM_054378484.1 → XP_054234459.1  tRNA-uridine aminocarboxypropyltransferase 1 isoform X2

    6. XM_054378482.1 → XP_054234457.1  tRNA-uridine aminocarboxypropyltransferase 1 isoform X2

    7. XM_054378480.1 → XP_054234455.1  tRNA-uridine aminocarboxypropyltransferase 1 isoform X1

    8. XM_054378478.1 → XP_054234453.1  tRNA-uridine aminocarboxypropyltransferase 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N5C7.1 GenPept UniProtKB/Swiss-Prot:Q8N5C7

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