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 bas... See more...

Aliases for PUF60 Gene

Aliases for PUF60 Gene

  • Poly(U) Binding Splicing Factor 60 2 3 5
  • FUSE-Binding Protein-Interacting Repressor 3 4
  • Pyrimidine Tract Binding Splicing Factor 2 3
  • Poly(U)-Binding-Splicing Factor PUF60 3 4
  • Poly(U) Binding Splicing Factor 60KDa 2 3
  • FBP Interacting Repressor 2 3
  • Siah Binding Protein 1 2 3
  • SIAHBP1 3 4
  • FIR 3 4
  • Ro Ribonucleoprotein-Binding Protein 1 3
  • 60 KDa Poly(U)-Binding-Splicing Factor 4
  • Ro Ribonucleoprotein Binding Protein 1 2
  • FBP-Interacting Repressor 4
  • Siah-Binding Protein 1 4
  • Ro-Binding Protein 1 4
  • Siah-BP1 4
  • RoBPI 3
  • ROBPI 4
  • RoBP1 4
  • VRJS 3

External Ids for PUF60 Gene

Previous GeneCards Identifiers for PUF60 Gene

  • GC08M144971
  • GC08M144898
  • GC08M140151

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 60) is a Protein Coding gene. Diseases associated with PUF60 include Verheij Syndrome and Xeroderma Pigmentosum, Complementation Group B. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and identical protein binding. An important paralog of this gene is ELAVL2.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for PUF60 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PUF60 Gene

Genomics for PUF60 Gene

GeneHancer (GH) Regulatory Elements for PUF60 Gene

Promoters and enhancers for PUF60 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J143826 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 760.3 +1.1 1113 3.6 SIN3A SP1 ZBTB40 SREBF1 FOXA1 RBPJ POLR2A CTBP1 USF2 HCFC1 PUF60 ENSG00000287222 lnc-NRBP2-2 ZNF7 EEF1D RPL8 ENSG00000255050 VPS28 ZNF623 PARP10
GH08J143902 Enhancer 1.2 Ensembl ENCODE dbSUPER 12 -74.0 -74031 3.2 CTCF MLX RBPJ CC2D1A L3MBTL2 RAD21 MNT MYC POLR2A KLF14 lnc-PLEC-4 PLEC MAF1 EPPK1 PUF60 SHARPIN MIR661 NRBP2 SCRIB PARP10
GH08J143964 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.8 -136.3 -136288 3.6 MNT NCOA3 CEBPG CREB1 CTBP1 PKNOX1 ESRRA ZNF592 HCFC1 GATAD2B PLEC PARP10 SPATC1 EXOSC4 ENSG00000255224 EPPK1 PUF60 C8orf82 C8orf31 EEF1D
GH08J143905 Enhancer 1.2 Ensembl ENCODE dbSUPER 12 -76.7 -76684 2.1 RBPJ CREB1 MNT ELF3 TFE3 MYC POLR2A SP5 ZNF384 KAT8 PLEC ZNF7 ZNF250 VPS28 CPSF1 FBXL6 COMMD5 EPPK1 ADCK5 LRRC14
GH08J143820 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 9.5 +6.5 6524 5.5 FOXA1 RBPJ NR2F1 NR2F6 ZNF121 MNT ELF3 SP1 TFE3 SP5 PUF60 ENSG00000181097 AB372758 lnc-NRBP2-2 RF00017-7371
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PUF60 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PUF60 gene promoter:
  • AhR
  • Arnt
  • ARP-1
  • c-Ets-1
  • FOXF2
  • STAT5A

Genomic Locations for PUF60 Gene

Genomic Locations for PUF60 Gene
chr8:143,816,344-143,829,859
(GRCh38/hg38)
Size:
13,516 bases
Orientation:
Minus strand
chr8:144,898,514-144,912,029
(GRCh37/hg19)
Size:
13,516 bases
Orientation:
Minus strand

Genomic View for PUF60 Gene

Genes around PUF60 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PUF60 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PUF60 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for PUF60 Gene

  • Ubiquitination at Lys243
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PUF60 Gene

Domains & Families for PUF60 Gene

Gene Families for PUF60 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PUF60 Gene

GenScript: Design optimal peptide antigens:
  • Siah-binding protein 1 (PUF60_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UHX1

UniProtKB/Swiss-Prot:

PUF60_HUMAN :
  • The third RNA recognition motif, called PUMP domain, is atypical and may rather mediate homodimerization and/or protein-protein interactions.
  • Belongs to the RRM half pint family.
Domain:
  • The third RNA recognition motif, called PUMP domain, is atypical and may rather mediate homodimerization and/or protein-protein interactions.
Family:
  • Belongs to the RRM half pint family.
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.

Phenotypes From GWAS Catalog for PUF60 Gene

Gene Ontology (GO) - Molecular Function for PUF60 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding HDA,IEA 22658674
GO:0005515 protein binding IPI 16169070
GO:0042802 identical protein binding IPI 16189514
genes like me logo Genes that share ontologies with PUF60: view
genes like me logo Genes that share phenotypes with PUF60: view

Human Phenotype Ontology for PUF60 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for PUF60 Gene

miRTarBase miRNAs that target PUF60

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PUF60

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
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 PUF60 gene
Compartment Confidence
nucleus 5
mitochondrion 2
golgi apparatus 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PUF60 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0030054 cell junction IDA --
genes like me logo Genes that share ontologies with PUF60: view

Pathways & Interactions for PUF60 Gene

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

Pathways by source for PUF60 Gene

Gene Ontology (GO) - Biological Process for PUF60 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
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

No data available for SIGNOR curated interactions for PUF60 Gene

Drugs & Compounds for PUF60 Gene

(1) Additional Compounds for PUF60 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Pyrimidine
  • 1,3-Diazin
  • 1,3-Diazine
  • m-Diazine
  • Metadiazine
  • Pyrimidin
25247-63-6
genes like me logo Genes that share compounds with PUF60: view

Transcripts for PUF60 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PUF60

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for PUF60 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PUF60 Gene

This gene is overexpressed in Bone (8.5) and Peripheral blood mononuclear cells (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PUF60 Gene



Protein tissue co-expression partners for PUF60 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PUF60 Gene:

PUF60

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.

Evidence on tissue expression from TISSUES for PUF60 Gene

  • Nervous system(4.9)
  • Lung(4.8)
  • Liver(4.3)
  • Muscle(4.3)
  • Skin(3.5)
  • Eye(2.8)
  • Pancreas(2.5)
  • Intestine(2.3)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PUF60 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • forehead
  • head
  • lip
  • neck
  • nose
  • skull
Thorax:
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
Abdomen:
  • kidney
Pelvis:
  • pelvis
  • ureter
Limb:
  • digit
  • femur
  • finger
  • foot
  • hand
  • hip
  • lower limb
  • thigh
  • toe
  • upper limb
General:
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with PUF60: view

No data available for mRNA differential expression in normal tissues for PUF60 Gene

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 33 32
  • 99.64 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PUF60 33
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PUF60 33 32
  • 92.65 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PUF60 33 32
  • 91.95 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Puf60 32
  • 90.38 (n)
mouse
(Mus musculus)
Mammalia Puf60 17 33 32
  • 90.1 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PUF60 33
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves PUF60 33 32
  • 84.07 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PUF60 33
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia puf60 32
  • 81.81 (n)
Str.6194 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.6828 32
zebrafish
(Danio rerio)
Actinopterygii puf60b 33
  • 77 (a)
OneToMany
puf60a 33 32
  • 76.37 (n)
OneToMany
wufb33e11 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12298 32
fruit fly
(Drosophila melanogaster)
Insecta pUf68 33 32
  • 65.38 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010553 32
  • 61.17 (n)
worm
(Caenorhabditis elegans)
Secernentea rnp-6 33 32
  • 54.04 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HSH49 33
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 53 (a)
OneToMany
CSA.10424 33
  • 46 (a)
OneToMany
Cin.12016 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12016 32
Species where no ortholog for PUF60 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PUF60: view image

Paralogs for PUF60 Gene

(8) SIMAP similar genes for PUF60 Gene using alignment to 7 proteins:

  • PUF60_HUMAN
  • E9PL19_HUMAN
  • E9PMU7_HUMAN
  • E9PN18_HUMAN
  • E9PQ56_HUMAN
  • H0YCP8_HUMAN
  • H0YEM1_HUMAN
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 Variation AA Info Type
rs1057518681 likely-pathogenic, Verheij syndrome, not provided 143,816,821(-) T/C splice_acceptor_variant
rs1064795388 pathogenic, likely-pathogenic, Verheij syndrome, not provided 143,829,279(-) C/G/T genic_upstream_transcript_variant, splice_donor_variant, upstream_transcript_variant
rs1085307135 likely-pathogenic, uncertain-significance, pathogenic, not provided, Inborn genetic diseases, Verheij syndrome 143,818,255(-) C/T coding_sequence_variant, missense_variant
rs1131692232 pathogenic, Verheij syndrome, Inborn genetic diseases 143,818,426(-) CAAAGGGGGCAAAGG/CAAAGG coding_sequence_variant, inframe_deletion
rs1554642022 pathogenic, Verheij syndrome 143,816,981(-) G/A coding_sequence_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
nsv1161815 CNV deletion 26073780
nsv466009 CNV loss 19166990
nsv475873 CNV novel sequence insertion 20440878
nsv476765 CNV novel sequence insertion 20440878
nsv612895 CNV loss 21841781
nsv612896 CNV loss 21841781
nsv612897 CNV loss 21841781
nsv6442 CNV deletion 18451855
nsv950014 CNV deletion 24416366

Variation tolerance for PUF60 Gene

Residual Variation Intolerance Score: 11.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.30; 6.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PUF60 Gene

Human Gene Mutation Database (HGMD)
PUF60
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PUF60

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PUF60 Gene

Disorders for PUF60 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PUF60 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
verheij syndrome
  • vrjs
xeroderma pigmentosum, complementation group b
  • xpb
coloboma of macula
  • agenesis of macula
- elite association - COSMIC cancer census association via MalaCards
Search PUF60 in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for PUF60

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

No data available for Genatlas for PUF60 Gene

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 (New York, N.Y.) 2000) 2 3 4 23 56
  2. Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65). (PMID: 17579712) Hastings ML … Krainer AR (PloS one 2007) 2 3 4 56
  3. The FBP interacting repressor targets TFIIH to inhibit activated transcription. (PMID: 10882074) Liu J … Levens D (Molecular cell 2000) 2 3 4 56
  4. SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. (PMID: 24140112) Dauber A … Katsanis N (American journal of human genetics 2013) 3 4 56
  5. c-myc suppressor FBP-interacting repressor for cancer diagnosis and therapy. (PMID: 19273283) Matsushita K … Nomura F (Frontiers in bioscience (Landmark edition) 2009) 3 23 56

Products for PUF60 Gene

Sources for PUF60 Gene