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Aliases for THUMPD1 Gene

Aliases for THUMPD1 Gene

  • THUMP Domain Containing 1 2 3 5
  • THUMP Domain-Containing Protein 1 3
  • TAN1 3

External Ids for THUMPD1 Gene

Previous GeneCards Identifiers for THUMPD1 Gene

  • GC16M020711
  • GC16M020652
  • GC16M020744
  • GC16M019280

Summaries for THUMPD1 Gene

GeneCards Summary for THUMPD1 Gene

THUMPD1 (THUMP Domain Containing 1) is a Protein Coding gene. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. GO annotations related to this gene include poly(A) RNA binding and RNA binding.

UniProtKB/Swiss-Prot for THUMPD1 Gene

  • Functions as a tRNA-binding adapter to mediate NAT10-dependent tRNA acetylation (PubMed:25653167).

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for THUMPD1 Gene

Genomics for THUMPD1 Gene

Regulatory Elements for THUMPD1 Gene

Enhancers for THUMPD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G021501 1.2 ENCODE 73.7 -760.4 -760446 2.5 CREB3L1 MLX ZFP64 DMAP1 YBX1 FEZF1 SLC30A9 ZNF143 ZNF548 ZNF263 THUMPD1 SMG1P1 SMG1P4 NPIPB5 ENSG00000260635 EEF2K C16orf52 MFSD13B RRN3P1 ENSG00000260306
GH16G020743 1.6 Ensembl ENCODE dbSUPER 36 -4.0 -4001 4.3 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ZNF766 CBX5 FOS KLF13 CEBPZ THUMPD1 ACSM3 REXO5 ERI2 GC16P020744 ENSG00000260510
GH16G021505 1.7 Ensembl ENCODE dbSUPER 16.9 -768.1 -768066 9.5 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 ENSG00000260306 RRN3P1 NPIPB5 THUMPD1 C16orf52 PIR56760 PIR36552
GH16G020849 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15.4 -109.1 -109053 3.1 ARNT SIN3A ARID4B ZNF2 YY1 SLC30A9 GATA2 ZNF143 DEK MXD4 THUMPD1 DCUN1D3 LYRM1 TMEM159 DNAH3 PIR58963
GH16G020673 1.1 ENCODE 23.1 +66.4 66386 5.1 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B ZNF766 ACSM1 THUMPD1 ACSM3 LOC105379461
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around THUMPD1 on UCSC Golden Path with GeneCards custom track

Promoters for THUMPD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000084259 784 1801 PKNOX1 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for THUMPD1 Gene

Chromosome:
16
Start:
20,702,816 bp from pter
End:
20,742,084 bp from pter
Size:
39,269 bases
Orientation:
Minus strand

Genomic View for THUMPD1 Gene

Genes around THUMPD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THUMPD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for THUMPD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THUMPD1 Gene

Proteins for THUMPD1 Gene

  • Protein details for THUMPD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NXG2-THUM1_HUMAN
    Recommended name:
    THUMP domain-containing protein 1
    Protein Accession:
    Q9NXG2
    Secondary Accessions:
    • Q9BWC3

    Protein attributes for THUMPD1 Gene

    Size:
    353 amino acids
    Molecular mass:
    39315 Da
    Quaternary structure:
    • Interacts with NAT10 (PubMed:25653167).

    Three dimensional structures from OCA and Proteopedia for THUMPD1 Gene

neXtProt entry for THUMPD1 Gene

Post-translational modifications for THUMPD1 Gene

  • Ubiquitination at Lys15, Lys178, posLast=189189, and Lys254
  • Modification sites at PhosphoSitePlus

Other Protein References for THUMPD1 Gene

No data available for DME Specific Peptides for THUMPD1 Gene

Domains & Families for THUMPD1 Gene

Protein Domains for THUMPD1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for THUMPD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NXG2

UniProtKB/Swiss-Prot:

THUM1_HUMAN :
  • Belongs to the THUMPD1 family.
Family:
  • Belongs to the THUMPD1 family.
genes like me logo Genes that share domains with THUMPD1: view

No data available for Gene Families for THUMPD1 Gene

Function for THUMPD1 Gene

Molecular function for THUMPD1 Gene

UniProtKB/Swiss-Prot Function:
Functions as a tRNA-binding adapter to mediate NAT10-dependent tRNA acetylation (PubMed:25653167).

Gene Ontology (GO) - Molecular Function for THUMPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0005515 protein binding IPI 25653167
genes like me logo Genes that share ontologies with THUMPD1: view
genes like me logo Genes that share phenotypes with THUMPD1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for THUMPD1 Gene

Localization for THUMPD1 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 THUMPD1 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for THUMPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with THUMPD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for THUMPD1 Gene

Pathways & Interactions for THUMPD1 Gene

genes like me logo Genes that share pathways with THUMPD1: view

Pathways by source for THUMPD1 Gene

Gene Ontology (GO) - Biological Process for THUMPD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000154 rRNA modification TAS --
GO:0006400 tRNA modification IBA --
genes like me logo Genes that share ontologies with THUMPD1: view

No data available for SIGNOR curated interactions for THUMPD1 Gene

Drugs & Compounds for THUMPD1 Gene

No Compound Related Data Available

Transcripts for THUMPD1 Gene

Unigene Clusters for THUMPD1 Gene

THUMP domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for THUMPD1 Gene

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

Relevant External Links for THUMPD1 Gene

GeneLoc Exon Structure for
THUMPD1
ECgene alternative splicing isoforms for
THUMPD1

Expression for THUMPD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for THUMPD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for THUMPD1 Gene

This gene is overexpressed in Nasal epithelium (16.5) and Heart (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for THUMPD1 Gene



Protein tissue co-expression partners for THUMPD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of THUMPD1 Gene:

THUMPD1

SOURCE GeneReport for Unigene cluster for THUMPD1 Gene:

Hs.700004

Evidence on tissue expression from TISSUES for THUMPD1 Gene

  • Lung(4.5)
  • Liver(4.3)
  • Nervous system(4.3)
  • Blood(4.1)
  • Kidney(2)
genes like me logo Genes that share expression patterns with THUMPD1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for THUMPD1 Gene

Orthologs for THUMPD1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for THUMPD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia THUMPD1 34 35
  • 99.53 (n)
cow
(Bos Taurus)
Mammalia THUMPD1 34 35
  • 90.34 (n)
dog
(Canis familiaris)
Mammalia THUMPD1 34 35
  • 90.22 (n)
mouse
(Mus musculus)
Mammalia Thumpd1 34 16 35
  • 85.62 (n)
rat
(Rattus norvegicus)
Mammalia Thumpd1 34
  • 85.23 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 74 (a)
OneToMany
-- 35
  • 74 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia THUMPD1 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves THUMPD1 34 35
  • 72.47 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 64 (a)
OneToMany
-- 35
  • 61 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia thumpd1 34
  • 70.11 (n)
MGC75804 34
zebrafish
(Danio rerio)
Actinopterygii thumpd1 34 35
  • 55.84 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007705 34
  • 49.73 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15014 34 35
  • 48.53 (n)
worm
(Caenorhabditis elegans)
Secernentea W02G9.3 35
  • 17 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TAN1 35 37
  • 28 (a)
OneToOne
Species where no ortholog for THUMPD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 THUMPD1 Gene

ENSEMBL:
Gene Tree for THUMPD1 (if available)
TreeFam:
Gene Tree for THUMPD1 (if available)

Paralogs for THUMPD1 Gene

(1) SIMAP similar genes for THUMPD1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for THUMPD1 Gene

genes like me logo Genes that share paralogs with THUMPD1: view

No data available for Paralogs for THUMPD1 Gene

Variants for THUMPD1 Gene

Sequence variations from dbSNP and Humsavar for THUMPD1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000186685 -- 20,732,465(+) AAGAG(G/T)ATTTT intron-variant
rs1000689950 -- 20,741,796(+) TCCTC(A/G)TCTAT nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000993929 -- 20,741,027(+) TGAGA(C/G)GCAGA intron-variant
rs1001526043 -- 20,740,787(+) TTGGT(-/AA)AAGTT intron-variant
rs1001570022 -- 20,741,435(+) ACCAG(C/T)AGCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for THUMPD1 Gene

Variant ID Type Subtype PubMed ID
nsv1047581 CNV loss 25217958
nsv436835 CNV insertion 17901297
nsv833165 CNV loss 17160897

Variation tolerance for THUMPD1 Gene

Residual Variation Intolerance Score: 66.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.83; 67.10% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for THUMPD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
THUMPD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for THUMPD1 Gene

Disorders for THUMPD1 Gene

Relevant External Links for THUMPD1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
THUMPD1

No disorders were found for THUMPD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for THUMPD1 Gene

Publications for THUMPD1 Gene

  1. Yeast Kre33 and human NAT10 are conserved 18S rRNA cytosine acetyltransferases that modify tRNAs assisted by the adaptor Tan1/THUMPD1. (PMID: 25653167) Sharma S. … Lafontaine D.L. (Nucleic Acids Res. 2015) 2 3 4 64
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PMID: 10493829) Loftus B.J. … Adams M.D. (Genomics 1999) 3 4 64

Products for THUMPD1 Gene

Sources for THUMPD1 Gene

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