Aliases for DTWD1 Gene

Aliases for DTWD1 Gene

  • DTW Domain Containing 1 2 3 5
  • TRNA-Uridine Aminocarboxypropyltransferase 1 3 4
  • DTW Domain-Containing Protein 1 3 4
  • MDS009 2 3
  • X 009 Protein 3
  • EC 2.5.1.25 4
  • MGC111207 2
  • DTWD1 5

External Ids for DTWD1 Gene

Previous GeneCards Identifiers for DTWD1 Gene

  • GC15P047701
  • GC15P049913
  • GC15P026744

Summaries for DTWD1 Gene

GeneCards Summary for DTWD1 Gene

DTWD1 (DTW Domain Containing 1) is a Protein Coding gene. Diseases associated with DTWD1 include 46,Xy Sex Reversal 8 and 46,Xy Sex Reversal. An important paralog of this gene is YIPF3.

UniProtKB/Swiss-Prot Summary for DTWD1 Gene

  • Catalyzes the formation of 3-(3-amino-3-carboxypropyl)uridine (acp3U) at position 20 in the D-loop of several cytoplasmic tRNAs (acp3U(20)).

Gene Wiki entry for DTWD1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DTWD1 Gene

Genomics for DTWD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DTWD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DTWD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DTWD1

Top Transcription factor binding sites by QIAGEN in the DTWD1 gene promoter:
  • AML1a
  • c-Myb
  • c-Rel
  • MRF-2
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • RORalpha2
  • Sox9

Genomic Locations for DTWD1 Gene

Genomic Locations for DTWD1 Gene
chr15:49,621,022-49,656,232
(GRCh38/hg38)
Size:
35,211 bases
Orientation:
Plus strand
chr15:49,913,177-49,937,333
(GRCh37/hg19)
Size:
24,157 bases
Orientation:
Plus strand

Genomic View for DTWD1 Gene

Genes around DTWD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DTWD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DTWD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DTWD1 Gene

Proteins for DTWD1 Gene

  • Protein details for DTWD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N5C7-DTWD1_HUMAN
    Recommended name:
    tRNA-uridine aminocarboxypropyltransferase 1
    Protein Accession:
    Q8N5C7
    Secondary Accessions:
    • Q567Q3
    • Q8WVG9
    • Q9NRU6

    Protein attributes for DTWD1 Gene

    Size:
    304 amino acids
    Molecular mass:
    35248 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF87319.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for DTWD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DTWD1 Gene

Post-translational modifications for DTWD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DTWD1 Gene

Domains & Families for DTWD1 Gene

Gene Families for DTWD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DTWD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DTWD1 Gene

GenScript: Design optimal peptide antigens:
  • DTW domain-containing protein 1 (DTWD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N5C7

UniProtKB/Swiss-Prot:

DTWD1_HUMAN :
  • Contains 1 DXTW motif.
  • Belongs to the TDD superfamily. DTWD1 family.
Domain:
  • Contains 1 DXTW motif.
Family:
  • Belongs to the TDD superfamily. DTWD1 family.
genes like me logo Genes that share domains with DTWD1: view

Function for DTWD1 Gene

Molecular function for DTWD1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the formation of 3-(3-amino-3-carboxypropyl)uridine (acp3U) at position 20 in the D-loop of several cytoplasmic tRNAs (acp3U(20)).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a uridine in tRNA + S-adenosyl-L-methionine = a 3-[(3S)-3-amino-3-carboxypropyl]-uridine in tRNA + H(+) + S-methyl-5'-thioadenosine; Xref=Rhea:RHEA:62432, Rhea:RHEA-COMP:13339, Rhea:RHEA-COMP:16092, ChEBI:CHEBI:15378, ChEBI:CHEBI:17509, ChEBI:CHEBI:59789, ChEBI:CHEBI:65315, ChEBI:CHEBI:82930; EC=2.5.1.25; Evidence={ECO:0000269|PubMed:31804502};.

Enzyme Numbers (IUBMB) for DTWD1 Gene

Phenotypes From GWAS Catalog for DTWD1 Gene

Gene Ontology (GO) - Molecular Function for DTWD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016432 tRNA-uridine aminocarboxypropyltransferase activity IDA 31804502
genes like me logo Genes that share ontologies with DTWD1: view
genes like me logo Genes that share phenotypes with DTWD1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DTWD1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DTWD1 Gene

Localization for DTWD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DTWD1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DTWD1 gene
Compartment Confidence
nucleus 3
extracellular 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DTWD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 31804502
genes like me logo Genes that share ontologies with DTWD1: view

Pathways & Interactions for DTWD1 Gene

PathCards logo

SuperPathways for DTWD1 Gene

No Data Available

Interacting Proteins for DTWD1 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000251250 Q8N5C7-DTWD1_HUMAN for DTWD1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for DTWD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006400 tRNA modification IDA 31804502
genes like me logo Genes that share ontologies with DTWD1: view

No data available for Pathways by source and SIGNOR curated interactions for DTWD1 Gene

Drugs & Compounds for DTWD1 Gene

No Compound Related Data Available

Transcripts for DTWD1 Gene

mRNA/cDNA for DTWD1 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DTWD1

Alternative Splicing Database (ASD) splice patterns (SP) for DTWD1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c
SP1: - - - - - - -
SP2: - - -
SP3: - - - - - - - -
SP4: - - - - - -
SP5: - - - - - - - - -
SP6: - - - - -
SP7: -
SP8: - - - - - - -

Relevant External Links for DTWD1 Gene

GeneLoc Exon Structure for
DTWD1

Expression for DTWD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DTWD1 Gene

Protein differential expression in normal tissues from HIPED for DTWD1 Gene

This gene is overexpressed in Ovary (54.1) and Adrenal (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DTWD1 Gene



Protein tissue co-expression partners for DTWD1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DTWD1

SOURCE GeneReport for Unigene cluster for DTWD1 Gene:

Hs.127432

Evidence on tissue expression from TISSUES for DTWD1 Gene

  • Nervous system(2.7)
genes like me logo Genes that share expression patterns with DTWD1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DTWD1 Gene

Orthologs for DTWD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for DTWD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DTWD1 30 31
  • 99.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DTWD1 30 31
  • 93.31 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DTWD1 31
  • 86 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dtwd1 30
  • 79.39 (n)
Mouse
(Mus musculus)
Mammalia Dtwd1 30 17 31
  • 78.84 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DTWD1 31
  • 74 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DTWD1 31
  • 61 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LOC770318 30
  • 71.28 (n)
DTWD1 31
  • 60 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DTWD1 31
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dtwd1 30
  • 68.24 (n)
Str.17345 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.23765 30
Zebrafish
(Danio rerio)
Actinopterygii dtwd1 30 31
  • 56.65 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004295 30
  • 51.7 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG2006 30 31
  • 49.26 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y53C12A.10 30 31
  • 51.45 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3444 31
  • 43 (a)
OneToOne
Species where no ortholog for DTWD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DTWD1 Gene

ENSEMBL:
Gene Tree for DTWD1 (if available)
TreeFam:
Gene Tree for DTWD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DTWD1: view image

Paralogs for DTWD1 Gene

Paralogs for DTWD1 Gene

Pseudogenes.org Pseudogenes for DTWD1 Gene

genes like me logo Genes that share paralogs with DTWD1: view

Variants for DTWD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DTWD1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs11539519 - p.Glu13Lys
rs11539521 - p.Ser25Pro
rs11539522 - p.Leu9Pro

Additional dbSNP identifiers (rs#s) for DTWD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for DTWD1 Gene

Variant ID Type Subtype PubMed ID
nsv569392 CNV loss 21841781

Variation tolerance for DTWD1 Gene

Residual Variation Intolerance Score: 40.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.26; 40.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DTWD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DTWD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DTWD1 Gene

Disorders for DTWD1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DTWD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
46,xy sex reversal 8
  • srxy8
46,xy sex reversal
  • 46 xy gonadal dysgenesis
- elite association - COSMIC cancer census association via MalaCards
Search DTWD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DTWD1

genes like me logo Genes that share disorders with DTWD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DTWD1 Gene

Publications for DTWD1 Gene

  1. Biogenesis and functions of aminocarboxypropyluridine in tRNA. (PMID: 31804502) Takakura M … Suzuki T (Nature communications 2019) 3 4
  2. Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D. (PMID: 22041458) Clark SL … van den Oord EJ (Psychological medicine 2012) 3 41
  3. DNA Repair Network Analysis Reveals Shieldin as a Key Regulator of NHEJ and PARP Inhibitor Sensitivity. (PMID: 29656893) Gupta R … Choudhary C (Cell 2018) 3
  4. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. (PMID: 29513927) Tomkins JE … Manzoni C (Proteomics 2018) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for DTWD1 Gene

Sources for DTWD1 Gene