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Aliases for TUT1 Gene

Aliases for TUT1 Gene

  • Terminal Uridylyl Transferase 1, U6 SnRNA-Specific 2 3 5
  • U6 SnRNA-Specific Terminal Uridylyltransferase 1 3 4
  • RNA-Binding Motif Protein 21 3 4
  • RNA Uridylyltransferase 2 3
  • RNA-Binding Protein 21 3 4
  • U6-TUTase 3 4
  • TUTase 6 2 3
  • Star-PAP 3 4
  • RBM21 3 4
  • Nuclear Speckle Targeted Phosphatidylinositol 4-Phosphate 5-Kinase Type I-Alpha Regulated-Poly(A) Polymerase 3
  • Nuclear Speckle-Targeted PIPK1A-Regulated-Poly(A) Polymerase 3
  • Speckle Targeted PIP5K1A-Regulated Poly(A) Polymerase 3
  • Poly(A) Polymerase Associated Domain Containing 2 3
  • PAP-Associated Domain-Containing 2 3
  • Up-Regulated In Lung Cancer 6 3
  • RNA Binding Motif Protein 21 2
  • EC 2.7.7.19 4
  • EC 2.7.7.52 4
  • U6 TUTase 2
  • STARPAP 3
  • TUTase 3
  • PAPD2 3
  • URLC6 3

External Ids for TUT1 Gene

Previous HGNC Symbols for TUT1 Gene

  • RBM21

Previous GeneCards Identifiers for TUT1 Gene

  • GC11M062099
  • GC11M062327
  • GC11M062342

Summaries for TUT1 Gene

Entrez Gene Summary for TUT1 Gene

  • This gene encodes a nucleotidyl transferase that functions as both a terminal uridylyltransferase and a nuclear poly(A) polymerase. The encoded enzyme specifically adds and removes nucleotides from the 3' end of small nuclear RNAs and select mRNAs and may function in controlling gene expression and cell proliferation.[provided by RefSeq, Apr 2009]

GeneCards Summary for TUT1 Gene

TUT1 (Terminal Uridylyl Transferase 1, U6 SnRNA-Specific) is a Protein Coding gene. Diseases associated with TUT1 include Perlman Syndrome. GO annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is MTPAP.

UniProtKB/Swiss-Prot for TUT1 Gene

  • Poly(A) polymerase that creates the 3-poly(A) tail of specific pre-mRNAs. Localizes to nuclear speckles together with PIP5K1A and mediates polyadenylation of a select set of mRNAs, such as HMOX1. In addition to polyadenylation, it is also required for the 3-end cleavage of pre-mRNAs: binds to the 3UTR of targeted pre-mRNAs and promotes the recruitment and assembly of the CPSF complex on the 3UTR of pre-mRNAs. In addition to adenylyltransferase activity, also has uridylyltransferase activity. However, the ATP ratio is higher than UTP in cells, suggesting that it functions primarily as a poly(A) polymerase. Acts as a specific terminal uridylyltransferase for U6 snRNA in vitro: responsible for a controlled elongation reaction that results in the restoration of the four 3-terminal UMP-residues found in newly transcribed U6 snRNA. Not involved in replication-dependent histone mRNA degradation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TUT1 Gene

Genomics for TUT1 Gene

Regulatory Elements for TUT1 Gene

Enhancers for TUT1 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around TUT1 on UCSC Golden Path with GeneCards custom track

Promoters for TUT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for TUT1 Gene

Chromosome:
11
Start:
62,575,045 bp from pter
End:
62,592,177 bp from pter
Size:
17,133 bases
Orientation:
Minus strand

Genomic View for TUT1 Gene

Genes around TUT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUT1 Gene

Proteins for TUT1 Gene

  • Protein details for TUT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H6E5-STPAP_HUMAN
    Recommended name:
    Speckle targeted PIP5K1A-regulated poly(A) polymerase
    Protein Accession:
    Q9H6E5
    Secondary Accessions:
    • A1A527
    • A8K995
    • Q2NL65
    • Q7L583
    • Q9H6H7

    Protein attributes for TUT1 Gene

    Size:
    874 amino acids
    Molecular mass:
    93847 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Associates with the cleavage and polyadenylation specificity factor (CPSF) complex. Interacts with CPSF1 and CPSF3; the interaction is direct. Interacts with PIP5K1A; interaction.
    SequenceCaution:
    • Sequence=BAB15282.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TUT1 Gene

neXtProt entry for TUT1 Gene

Post-translational modifications for TUT1 Gene

Other Protein References for TUT1 Gene

No data available for DME Specific Peptides for TUT1 Gene

Domains & Families for TUT1 Gene

Suggested Antigen Peptide Sequences for TUT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H6E5

UniProtKB/Swiss-Prot:

STPAP_HUMAN :
  • Contains 1 PAP-associated domain.
  • Belongs to the DNA polymerase type-B-like family.
  • Contains 1 C2H2-type zinc finger.
Domain:
  • Contains 1 PAP-associated domain.
  • Contains 1 RRM (RNA recognition motif) domain.
Family:
  • Belongs to the DNA polymerase type-B-like family.
Similarity:
  • Contains 1 C2H2-type zinc finger.
genes like me logo Genes that share domains with TUT1: view

Function for TUT1 Gene

Molecular function for TUT1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UTP + RNA(n) = diphosphate + RNA(n+1).
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + RNA(n) = diphosphate + RNA(n+1).
UniProtKB/Swiss-Prot EnzymeRegulation:
Adenylyltransferase activity is specifically phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2).
UniProtKB/Swiss-Prot Function:
Poly(A) polymerase that creates the 3-poly(A) tail of specific pre-mRNAs. Localizes to nuclear speckles together with PIP5K1A and mediates polyadenylation of a select set of mRNAs, such as HMOX1. In addition to polyadenylation, it is also required for the 3-end cleavage of pre-mRNAs: binds to the 3UTR of targeted pre-mRNAs and promotes the recruitment and assembly of the CPSF complex on the 3UTR of pre-mRNAs. In addition to adenylyltransferase activity, also has uridylyltransferase activity. However, the ATP ratio is higher than UTP in cells, suggesting that it functions primarily as a poly(A) polymerase. Acts as a specific terminal uridylyltransferase for U6 snRNA in vitro: responsible for a controlled elongation reaction that results in the restoration of the four 3-terminal UMP-residues found in newly transcribed U6 snRNA. Not involved in replication-dependent histone mRNA degradation.

Enzyme Numbers (IUBMB) for TUT1 Gene

Gene Ontology (GO) - Molecular Function for TUT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 18288197
GO:0003730 mRNA 3-UTR binding IDA 21102410
GO:0004652 polynucleotide adenylyltransferase activity IDA 18288197
GO:0005515 protein binding IPI 18288197
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with TUT1: view
genes like me logo Genes that share phenotypes with TUT1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TUT1 Gene

Localization for TUT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUT1 Gene

Nucleus, nucleolus. Nucleus speckle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TUT1 Gene COMPARTMENTS Subcellular localization image for TUT1 gene
Compartment Confidence
nucleus 5
extracellular 4
mitochondrion 2

Gene Ontology (GO) - Cellular Components for TUT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA 16790842
GO:0005847 colocalizes_with mRNA cleavage and polyadenylation specificity factor complex IDA 18305108
GO:0016607 nuclear speck IDA 18288197
GO:0045171 intercellular bridge IDA --
genes like me logo Genes that share ontologies with TUT1: view

Pathways & Interactions for TUT1 Gene

SuperPathways for TUT1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TUT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006378 mRNA polyadenylation IMP 18288197
GO:0016180 snRNA processing IMP 16790842
GO:0071044 NOT histone mRNA catabolic process IMP 18172165
GO:0098789 pre-mRNA cleavage required for polyadenylation IDA 21102410
genes like me logo Genes that share ontologies with TUT1: view

No data available for Pathways by source and SIGNOR curated interactions for TUT1 Gene

Drugs & Compounds for TUT1 Gene

(2) Drugs for TUT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Uridine triphosphate Experimental Pharma 0

(1) Additional Compounds for TUT1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with TUT1: view

Transcripts for TUT1 Gene

Unigene Clusters for TUT1 Gene

Terminal uridylyl transferase 1, U6 snRNA-specific:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TUT1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c · 12d ^ 13 ^ 14
SP1: - - - - -
SP2: -
SP3: - - -
SP4: - -
SP5: - - - -
SP6: - - - -
SP7: -
SP8: -
SP9:

Relevant External Links for TUT1 Gene

GeneLoc Exon Structure for
TUT1
ECgene alternative splicing isoforms for
TUT1

Expression for TUT1 Gene

mRNA expression in normal human tissues for TUT1 Gene

Protein differential expression in normal tissues from HIPED for TUT1 Gene

This gene is overexpressed in Heart (55.5) and Lung (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TUT1 Gene



Protein tissue co-expression partners for TUT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TUT1 Gene:

TUT1

SOURCE GeneReport for Unigene cluster for TUT1 Gene:

Hs.728983

mRNA Expression by UniProt/SwissProt for TUT1 Gene:

Q9H6E5-STPAP_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with TUT1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TUT1 Gene

Orthologs for TUT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TUT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TUT1 34
  • 87.73 (n)
  • 87.92 (a)
TUT1 35
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TUT1 34
  • 87.3 (n)
  • 87.57 (a)
TUT1 35
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tut1 34
  • 81.86 (n)
  • 79.23 (a)
Tut1 16
chimpanzee
(Pan troglodytes)
Mammalia TUT1 34
  • 99.67 (n)
  • 99.45 (a)
TUT1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tut1 34
  • 81.46 (n)
  • 79.33 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 70 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 73 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 47 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tut1 34
  • 51.46 (n)
  • 44.07 (a)
zebrafish
(Danio rerio)
Actinopterygii tut1 34
  • 56.22 (n)
  • 51.29 (a)
tut1 35
  • 38 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG1091 35
  • 15 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea pup-3 35
  • 18 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 24 (a)
ManyToMany
Species where no ortholog for TUT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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 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 TUT1 Gene

ENSEMBL:
Gene Tree for TUT1 (if available)
TreeFam:
Gene Tree for TUT1 (if available)

Paralogs for TUT1 Gene

Paralogs for TUT1 Gene

(2) SIMAP similar genes for TUT1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TUT1: view

Variants for TUT1 Gene

Sequence variations from dbSNP and Humsavar for TUT1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs3197865 - 62,576,964(-) ATTTT(C/T)TTCAG reference, missense
rs34251910 -- 62,590,811(+) GTCTC(-/A)AAAAA intron-variant
rs10700510 -- 62,587,111(+) AAAAA(-/A)GGAAA intron-variant
rs34445272 -- 62,582,789(+) ATTAA(-/G)GGATC intron-variant
rs77209403 -- 62,589,002(+) ATTCA(C/T)TCTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TUT1 Gene

Variant ID Type Subtype PubMed ID
esv3584599 CNV gain 24956385
nsv555174 CNV gain 21841781
nsv825939 CNV gain 20364138
nsv832180 CNV loss 17160897
nsv832182 CNV gain+loss 17160897

Variation tolerance for TUT1 Gene

Residual Variation Intolerance Score: 41.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.70; 46.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TUT1 Gene

Human Gene Mutation Database (HGMD)
TUT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUT1 Gene

Disorders for TUT1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TUT1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
perlman syndrome
  • nephroblastomatosis - fetal ascites - macrosomia - wilms tumor
- elite association - COSMIC cancer census association via MalaCards
Search TUT1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TUT1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TUT1
genes like me logo Genes that share disorders with TUT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TUT1 Gene

Publications for TUT1 Gene

  1. Identification, cloning, and functional analysis of the human U6 snRNA-specific terminal uridylyl transferase. (PMID: 16790842) Trippe R. … Benecke B.-J. (RNA 2006) 2 3 4 65
  2. The poly A polymerase Star-PAP controls 3'-end cleavage by promoting CPSF interaction and specificity toward the pre-mRNA. (PMID: 21102410) Laishram R.S. … Anderson R.A. (EMBO J. 2010) 3 4 65
  3. Degradation of histone mRNA requires oligouridylation followed by decapping and simultaneous degradation of the mRNA both 5' to 3' and 3' to 5'. (PMID: 18172165) Mullen T.E. … Marzluff W.F. (Genes Dev. 2008) 3 4 65
  4. A PtdIns4,5P2-regulated nuclear poly(A) polymerase controls expression of select mRNAs. (PMID: 18288197) Mellman D.L. … Anderson R.A. (Nature 2008) 3 4 65
  5. CKIalpha is associated with and phosphorylates star-PAP and is also required for expression of select star-PAP target messenger RNAs. (PMID: 18305108) Gonzales M.L. … Anderson R.A. (J. Biol. Chem. 2008) 3 4 65

Products for TUT1 Gene

Sources for TUT1 Gene

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