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

Gene ID: 56986, updated on 5-Mar-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, Apr 2022]
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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Location:
15q21.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (49621048..49656232)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (47429406..47464635)
105.20220307 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
  • 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_2023_10

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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