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Aliases for PUF60 Gene

Aliases for PUF60 Gene

  • Poly-U Binding Splicing Factor 60KDa 2 3
  • SIAHBP1 3 4 6
  • FIR 3 4 6
  • FUSE-Binding Protein-Interacting Repressor 3 4
  • Pyrimidine Tract Binding Splicing Factor 2 3
  • FBP Interacting Repressor 2 3
  • Siah Binding Protein 1 2 3
  • RoBPI 3 4
  • VRJS 3 6
  • Ro Ribonucleoprotein Binding Protein 1 2
  • Ro Ribonucleoprotein-Binding Protein 1 3
  • 60 KDa Poly(U)-Binding-Splicing Factor 4
  • Poly(U)-Binding-Splicing Factor PUF60 3
  • FBP-Interacting Repressor 4
  • Siah-Binding Protein 1 4
  • Ro-Binding Protein 1 4
  • Siah-BP1 4
  • RoBP1 4

External Ids for PUF60 Gene

Summaries for PUF60 Gene

Entrez Gene Summary for PUF60 Gene

  • This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]

GeneCards Summary for PUF60 Gene

PUF60 (Poly-U Binding Splicing Factor 60KDa) is a Protein Coding gene. Diseases associated with PUF60 include verheij syndrome. Among its related pathways are Spliceosome. GO annotations related to this gene include RNA binding and nucleotide binding. An important paralog of this gene is PABPC1L2A.

UniProtKB/Swiss-Prot for PUF60 Gene

  • DNA- and RNA-binding protein, involved in several nuclear processes such as pre-mRNA splicing, apoptosis and transcription regulation. In association with FUBP1 regulates MYC transcription at the P2 promoter through the core-TFIIH basal transcription factor. Acts as a transcriptional repressor through the core-TFIIH basal transcription factor. Represses FUBP1-induced transcriptional activation but not basal transcription. Decreases ERCC3 helicase activity. Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation group B (XPB) cells. Is also involved in pre-mRNA splicing. Promotes splicing of an intron with weak 3-splice site and pyrimidine tract in a cooperative manner with U2AF2. Involved in apoptosis induction when overexpressed in HeLa cells. Isoform 6 failed to repress MYC transcription and inhibited FIR-induced apoptosis in colorectal cancer. Isoform 6 may contribute to tumor progression by enabling increased MYC expression and greater resistance to apoptosis in tumors than in normal cells. Modulates alternative splicing of several mRNAs. Binds to relaxed DNA of active promoter regions. Binds to the pyrimidine tract and 3-splice site regions of pre-mRNA; binding is enhanced in presence of U2AF2. Binds to Y5 RNA in association with TROVE2. Binds to poly(U) RNA.

Gene Wiki entry for PUF60 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PUF60 Gene

Genomics for PUF60 Gene

Genomic Location for PUF60 Gene

Start:
143,816,344 bp from pter
End:
143,829,859 bp from pter
Size:
13,516 bases
Orientation:
Minus strand

Genomic View for PUF60 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PUF60 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PUF60 Gene

Regulatory Elements for PUF60 Gene

Proteins for PUF60 Gene

  • Protein details for PUF60 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHX1-PUF60_HUMAN
    Recommended name:
    Poly(U)-binding-splicing factor PUF60
    Protein Accession:
    Q9UHX1
    Secondary Accessions:
    • A8K8K8
    • Q969E7
    • Q96D94
    • Q96H63
    • Q99628
    • Q9NZA0
    • Q9UJY7

    Protein attributes for PUF60 Gene

    Size:
    559 amino acids
    Molecular mass:
    59875 Da
    Quaternary structure:
    • Homodimer. Associates with the spliceosome. Found in a complex with TROVE2 and Y5 RNA. Found in a complex with FUBP1 and far upstream element (FUSE) DNA segment. Interacts directly with ERCC3. Interacts with CDK7, GTF2H1 and SFRS11. Does not interact with ERCC3 in xeroderma pigmentosum complementation group B (XPB) cells.
    Miscellaneous:
    • Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation group B (XPB) cells

    Three dimensional structures from OCA and Proteopedia for PUF60 Gene

    Alternative splice isoforms for PUF60 Gene

neXtProt entry for PUF60 Gene

Proteomics data for PUF60 Gene at MOPED

Post-translational modifications for PUF60 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys243

No data available for DME Specific Peptides for PUF60 Gene

Domains for PUF60 Gene

Gene Families for PUF60 Gene

HGNC:
  • RBM :RNA binding motif (RRM) containing

UniProtKB/Swiss-Prot:

PUF60_HUMAN
Domain:
  • The third RNA recognition motif, called PUMP domain, is atypical and may rather mediate homodimerization and/or protein-protein interactions:
    • Q9UHX1
  • Contains 3 RRM (RNA recognition motif) domains.:
    • Q9UHX1
Family:
  • Belongs to the RRM half pint family.:
    • Q9UHX1
genes like me logo Genes that share domains with PUF60: view

Function for PUF60 Gene

Molecular function for PUF60 Gene

UniProtKB/Swiss-Prot Function: DNA- and RNA-binding protein, involved in several nuclear processes such as pre-mRNA splicing, apoptosis and transcription regulation. In association with FUBP1 regulates MYC transcription at the P2 promoter through the core-TFIIH basal transcription factor. Acts as a transcriptional repressor through the core-TFIIH basal transcription factor. Represses FUBP1-induced transcriptional activation but not basal transcription. Decreases ERCC3 helicase activity. Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation group B (XPB) cells. Is also involved in pre-mRNA splicing. Promotes splicing of an intron with weak 3-splice site and pyrimidine tract in a cooperative manner with U2AF2. Involved in apoptosis induction when overexpressed in HeLa cells. Isoform 6 failed to repress MYC transcription and inhibited FIR-induced apoptosis in colorectal cancer. Isoform 6 may contribute to tumor progression by enabling increased MYC expression and greater resistance to apoptosis in tumors than in normal cells. Modulates alternative splicing of several mRNAs. Binds to relaxed DNA of active promoter regions. Binds to the pyrimidine tract and 3-splice site regions of pre-mRNA; binding is enhanced in presence of U2AF2. Binds to Y5 RNA in association with TROVE2. Binds to poly(U) RNA.

Gene Ontology (GO) - Molecular Function for PUF60 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 16169070
GO:0042802 identical protein binding IPI 16189514
genes like me logo Genes that share ontologies with PUF60: view

Phenotypes for PUF60 Gene

GenomeRNAi human phenotypes for PUF60:
genes like me logo Genes that share phenotypes with PUF60: view

miRNA for PUF60 Gene

miRTarBase miRNAs that target PUF60

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for PUF60 Gene

Localization for PUF60 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PUF60 Gene

Nucleus. Note=Colocalizes partially with TROVE2.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PUF60 Gene COMPARTMENTS Subcellular localization image for PUF60 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for PUF60 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005794 Golgi apparatus IDA --
GO:0019907 colocalizes_with cyclin-dependent protein kinase activating kinase holoenzyme complex IDA 11445587
GO:0030529 ribonucleoprotein complex IEA --
genes like me logo Genes that share ontologies with PUF60: view

Pathways for PUF60 Gene

SuperPathways for PUF60 Gene

Superpath Contained pathways
1 Spliceosome
genes like me logo Genes that share pathways with PUF60: view

Pathways by source for PUF60 Gene

1 KEGG pathway for PUF60 Gene

Gene Ontology (GO) - Biological Process for PUF60 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006397 mRNA processing IEA --
GO:0006915 apoptotic process IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with PUF60: view

Compounds for PUF60 Gene

(1) HMDB Compounds for PUF60 Gene

Compound Synonyms Cas Number PubMed IDs
Pyrimidine
  • 1,3-Diazabenzene
25247-63-6
genes like me logo Genes that share compounds with PUF60: view

Transcripts for PUF60 Gene

Unigene Clusters for PUF60 Gene

Poly-U binding splicing factor 60KDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PUF60 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b · 11c · 11d ^ 12a · 12b · 12c · 12d ^ 13 ^ 14 ^ 15a · 15b ^ 16
SP1: - - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - - - - -
SP5: - - - - - -
SP6: - - - - - - -
SP7: -
SP8: -
SP9: -
SP10: - - - - -
SP11: - -
SP12: -

Relevant External Links for PUF60 Gene

GeneLoc Exon Structure for
PUF60
ECgene alternative splicing isoforms for
PUF60

Expression for PUF60 Gene

mRNA expression in normal human tissues for PUF60 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PUF60 Gene

SOURCE GeneReport for Unigene cluster for PUF60 Gene Hs.521924

mRNA Expression by UniProt/SwissProt for PUF60 Gene

Q9UHX1-PUF60_HUMAN
Tissue specificity: Isoform 2 is expressed in colonic epithelium and colorectal epithelium cancer (at protein level). Isoform 6 is expressed in colorectal epithelial cancer but below detection level in colonic epithelium. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and peripheral blood leukocytes.
genes like me logo Genes that share expressions with PUF60: view

Orthologs for PUF60 Gene

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

Orthologs for PUF60 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PUF60 36
  • 99.64 (n)
  • 99.82 (a)
PUF60 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PUF60 36
  • 91.95 (n)
  • 99.04 (a)
PUF60 37
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PUF60 36
  • 92.65 (n)
  • 98.92 (a)
PUF60 37
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Puf60 36
  • 90.1 (n)
  • 98.39 (a)
Puf60 16
Puf60 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PUF60 37
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PUF60 37
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Puf60 36
  • 90.38 (n)
  • 98.39 (a)
chicken
(Gallus gallus)
Aves PUF60 36
  • 84.07 (n)
  • 99.41 (a)
PUF60 37
  • 98 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PUF60 37
  • 94 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.6828 36
tropical clawed frog
(Silurana tropicalis)
Amphibia puf60 36
  • 81.81 (n)
  • 94.25 (a)
Str.6194 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12298 36
zebrafish
(Danio rerio)
Actinopterygii puf60a 36
  • 76.37 (n)
  • 89.9 (a)
puf60a 37
  • 84 (a)
OneToMany
puf60b 37
  • 77 (a)
OneToMany
wufb33e11 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010553 36
  • 61.17 (n)
  • 58.76 (a)
fruit fly
(Drosophila melanogaster)
Insecta pUf68 36
  • 65.38 (n)
  • 61.08 (a)
pUf68 37
  • 43 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea rnp-6 36
  • 54.04 (n)
  • 55.15 (a)
rnp-6 37
  • 30 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HSH49 37
  • 22 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12016 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 53 (a)
OneToMany
CSA.10424 37
  • 46 (a)
OneToMany
Species with no ortholog for PUF60:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 PUF60 Gene

ENSEMBL:
Gene Tree for PUF60 (if available)
TreeFam:
Gene Tree for PUF60 (if available)

Paralogs for PUF60 Gene

Paralogs for PUF60 Gene

genes like me logo Genes that share paralogs with PUF60: view

Variants for PUF60 Gene

Sequence variations from dbSNP and Humsavar for PUF60 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs4076357 -- 143,827,895(+) GTGCT(A/T)GGGGA intron-variant
rs4076358 -- 143,828,069(+) CTGTG(A/G)CTTCA intron-variant
rs4076877 -- 143,820,544(-) TGGAC(A/G)AGCGC intron-variant
rs4874103 -- 143,820,512(+) ACCAC(C/T)GGCCC intron-variant
rs4875062 -- 143,820,373(+) GTGGG(C/T)GCAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PUF60 Gene

Variant ID Type Subtype PubMed ID
dgv7935n71 CNV Loss 21882294
dgv7939n71 CNV Loss 21882294
dgv7940n71 CNV Loss 21882294
nsv891751 CNV Loss 21882294
dgv7943n71 CNV Loss 21882294
nsv6442 CNV Loss 18451855
nsv891766 CNV Loss 21882294
dgv7944n71 CNV Loss 21882294
dgv7945n71 CNV Loss 21882294
dgv7946n71 CNV Loss 21882294
nsv466009 CNV Loss 19166990
nsv891776 CNV Loss 21882294

Relevant External Links for PUF60 Gene

HapMap Linkage Disequilibrium report
PUF60
Human Gene Mutation Database (HGMD)
PUF60

Disorders for PUF60 Gene

(1) OMIM Diseases for PUF60 Gene (604819)

UniProtKB/Swiss-Prot

PUF60_HUMAN
  • Verheij syndrome (VRJS) [MIM:615583]: A syndrome characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects. {ECO:0000269 PubMed:24140112}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) MalaCards Diseases for PUF60 Gene

Search for PUF60 Gene in MalaCards »
genes like me logo Genes that share disorders with PUF60: view

Publications for PUF60 Gene

  1. Interaction cloning and characterization of RoBPI, a novel protein binding to human Ro ribonucleoproteins. (PMID: 10668799) Bouffard P. … Boire G. (RNA 2000) 2 3 4 23
  2. The FBP interacting repressor targets TFIIH to inhibit activated transcription. (PMID: 10882074) Liu J. … Levens D. (Mol. Cell 2000) 2 3 4
  3. Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF. (PMID: 17579712) Hastings M.L. … Krainer A.R. (PLoS ONE 2007) 2 3 4
  4. Defective interplay of activators and repressors with TFIH in xeroderma pigmentosum. (PMID: 11239393) Liu J. … Levens D. (Cell 2001) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for PUF60 Gene

Sources for PUF60 Gene

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