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Aliases for PUM1 Gene

Aliases for PUM1 Gene

  • Pumilio RNA Binding Family Member 1 2 3 5
  • Pumilio-1 3 4
  • HSPUM 3 4
  • PUMH1 3 4
  • Pumilio Homolog 1 (Drosophila) 2
  • Pumilio Homolog 1 3
  • KIAA0099 4
  • PUML1 3
  • PUMH 3

External Ids for PUM1 Gene

Previous GeneCards Identifiers for PUM1 Gene

  • GC01M031198
  • GC01M030388
  • GC01M030830
  • GC01M030906
  • GC01M031073
  • GC01M031176
  • GC01M031405
  • GC01M029510

Summaries for PUM1 Gene

Entrez Gene Summary for PUM1 Gene

  • This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for PUM1 Gene

PUM1 (Pumilio RNA Binding Family Member 1) is a Protein Coding gene. Diseases associated with PUM1 include Intermediate Charcot-Marie-Tooth Neuropathy and Subcorneal Pustular Dermatosis. Among its related pathways are Vesicle-mediated transport and Clathrin derived vesicle budding. GO annotations related to this gene include poly(A) RNA binding and binding. An important paralog of this gene is PUM2.

UniProtKB/Swiss-Prot for PUM1 Gene

  • Sequence-specific RNA-binding protein that acts as a post-transcriptional repressor by binding the 3-UTR of mRNA targets. Binds to an RNA consensus sequence, the Pumilio Response Element (PRE), 5-UGUANAUA-3, that is related to the Nanos Response Element (NRE) (PubMed:21572425, PubMed:18328718, PubMed:21653694, PubMed:21397187). Mediates post-transcriptional repression of transcripts via different mechanisms: acts via direct recruitment of the CCR4-POP2-NOT deadenylase leading to translational inhibition and mRNA degradation (PubMed:22955276). Also mediates deadenylation-independent repression by promoting accessibility of miRNAs (PubMed:18776931, PubMed:20818387, PubMed:20860814, PubMed:22345517). Following growth factor stimulation, phosphorylated and binds to the 3-UTR of CDKN1B/p27 mRNA, inducing a local conformational change that exposes miRNA-binding sites, promoting association of miR-221 and miR-222, efficient suppression of CDKN1B/p27 expression, and rapid entry to the cell cycle (PubMed:20818387). Acts as a post-transcriptional repressor of E2F3 mRNAs by binding to its 3-UTR and facilitating miRNA regulation (PubMed:22345517). Represses a program of genes necessary to maintain genomic stability such as key mitotic, DNA repair and DNA replication factors. Its ability to repress those target mRNAs is regulated by the lncRNA NORAD (non-coding RNA activated by DNA damage) which, due to its high abundance and multitude of PUMILIO binding sites, is able to sequester a significant fraction of PUM1 and PUM2 in the cytoplasm (PubMed:26724866). Involved in neuronal functions by regulating ATXN1 mRNA levels: acts by binding to the 3-UTR of ATXN1 transcripts, leading to their down-regulation independently of the miRNA machinery (PubMed:25768905). Plays a role in cytoplasmic sensing of viral infection (PubMed:25340845). In testis, acts as a post-transcriptional regulator of spermatogenesis by binding to the 3-UTR of mRNAs coding for regulators of p53/TP53. Involved in embryonic stem cell renewal by facilitating the exit from the ground state: acts by targeting mRNAs coding for naive pluripotency transcription factors and accelerates their down-regulation at the onset of differentiation (By similarity).

Gene Wiki entry for PUM1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PUM1 Gene

Genomics for PUM1 Gene

Regulatory Elements for PUM1 Gene

Enhancers for PUM1 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
GH01F031019 1.1 Ensembl 12 +45.8 45791 1.2 ZNF664 ZNF18 PUM1 ENSG00000237329 GC01P030988
GH01F031013 0.2 Ensembl 11.6 +52.2 52191 1.6 IRF2 ZNF384 FEZF1 ZBTB40 ZNF121 FOSL1 FOXK2 POLR2A NR2F6 ZNF362 PUM1 ENSG00000237329 GC01P030988
GH01F031006 1 Ensembl ENCODE 11.3 +58.3 58264 2.6 ZNF366 ZSCAN16 POLR2A PBX2 ZNF512 HMBOX1 TCF7 ZNF600 MLLT1 TRIM28 SNORD103B PUM1 GC01P030988 ENSG00000237329
GH01F031009 0.9 Ensembl ENCODE 11.3 +55.5 55469 1.4 HDGF ATF1 PKNOX1 YBX1 ZNF121 ZNF766 ZNF143 FOS JUNB NCOA1 SNORD103B PUM1 GC01P030988 ENSG00000237329
GH01F030737 1.1 FANTOM5 ENCODE 2.3 +314.7 314724 28.0 HDGF PKNOX1 ARNT WRNIP1 ZFP64 SIN3A FEZF1 YY1 ZNF302 ZNF416 SNRNP40 LAPTM5 ENSG00000229447 LOC400748 ENSG00000236335 LOC105378626 MATN1 MATN1-AS1 SDC3 PUM1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PUM1 on UCSC Golden Path with GeneCards custom track

Promoters for PUM1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000076014 1291 3401 PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for PUM1 Gene

Chromosome:
1
Start:
30,931,506 bp from pter
End:
31,065,991 bp from pter
Size:
134,486 bases
Orientation:
Minus strand

Genomic View for PUM1 Gene

Genes around PUM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PUM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PUM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PUM1 Gene

Proteins for PUM1 Gene

  • Protein details for PUM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14671-PUM1_HUMAN
    Recommended name:
    Pumilio homolog 1
    Protein Accession:
    Q14671
    Secondary Accessions:
    • A8K6W4
    • B4DG92
    • D3DPN3
    • E9PCJ0
    • Q53HH5
    • Q5VXY7
    • Q9HAN1

    Protein attributes for PUM1 Gene

    Size:
    1186 amino acids
    Molecular mass:
    126473 Da
    Quaternary structure:
    • Recruits the CCR4-POP2-NOT deadenylase leading to translational inhibition and mRNA degradation (PubMed:22955276). In case of viral infection, interacts with DHX58 (PubMed:25340845).
    SequenceCaution:
    • Sequence=BAA07895.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PUM1 Gene

    Alternative splice isoforms for PUM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PUM1 Gene

Post-translational modifications for PUM1 Gene

  • Phosphorylation at Ser-714 promotes RNA-binding activity. Following growth factor stimulation phosphorylated at Ser-714, promoting binding to the 3-UTR of CDKN1B/p27 mRNA.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PUM1 (Pumilio-1)

No data available for DME Specific Peptides for PUM1 Gene

Domains & Families for PUM1 Gene

Protein Domains for PUM1 Gene

Suggested Antigen Peptide Sequences for PUM1 Gene

Graphical View of Domain Structure for InterPro Entry

Q14671

UniProtKB/Swiss-Prot:

PUM1_HUMAN :
  • The pumilio repeats mediate the association with RNA by packing together to form a right-handed superhelix that approximates a half donut. RNA-binding occurs on the concave side of the surface (PubMed:21397187). PUM1 is composed of 8 pumilio repeats of 36 residues; each repeat binds a single nucleotide in its RNA target. Residues at positions 12 and 16 of the pumilio repeat bind each RNA base via hydrogen bonding or van der Waals contacts with the Watson-Crick edge, while the amino acid at position 13 makes a stacking interaction. The recognition of RNA by pumilio repeats is base specific: cysteine and glutamine at position 12 and 16, respectively, bind adenine; asparagine and glutamine bind uracil; and serine and glutamate bind guanine (PubMed:21572425. PubMed:18328718, PubMed:21653694).
  • Contains 8 pumilio repeats.
Domain:
  • The pumilio repeats mediate the association with RNA by packing together to form a right-handed superhelix that approximates a half donut. RNA-binding occurs on the concave side of the surface (PubMed:21397187). PUM1 is composed of 8 pumilio repeats of 36 residues; each repeat binds a single nucleotide in its RNA target. Residues at positions 12 and 16 of the pumilio repeat bind each RNA base via hydrogen bonding or van der Waals contacts with the Watson-Crick edge, while the amino acid at position 13 makes a stacking interaction. The recognition of RNA by pumilio repeats is base specific: cysteine and glutamine at position 12 and 16, respectively, bind adenine; asparagine and glutamine bind uracil; and serine and glutamate bind guanine (PubMed:21572425. PubMed:18328718, PubMed:21653694).
  • Contains 1 PUM-HD domain.
Similarity:
  • Contains 8 pumilio repeats.
genes like me logo Genes that share domains with PUM1: view

No data available for Gene Families for PUM1 Gene

Function for PUM1 Gene

Molecular function for PUM1 Gene

UniProtKB/Swiss-Prot Function:
Sequence-specific RNA-binding protein that acts as a post-transcriptional repressor by binding the 3-UTR of mRNA targets. Binds to an RNA consensus sequence, the Pumilio Response Element (PRE), 5-UGUANAUA-3, that is related to the Nanos Response Element (NRE) (PubMed:21572425, PubMed:18328718, PubMed:21653694, PubMed:21397187). Mediates post-transcriptional repression of transcripts via different mechanisms: acts via direct recruitment of the CCR4-POP2-NOT deadenylase leading to translational inhibition and mRNA degradation (PubMed:22955276). Also mediates deadenylation-independent repression by promoting accessibility of miRNAs (PubMed:18776931, PubMed:20818387, PubMed:20860814, PubMed:22345517). Following growth factor stimulation, phosphorylated and binds to the 3-UTR of CDKN1B/p27 mRNA, inducing a local conformational change that exposes miRNA-binding sites, promoting association of miR-221 and miR-222, efficient suppression of CDKN1B/p27 expression, and rapid entry to the cell cycle (PubMed:20818387). Acts as a post-transcriptional repressor of E2F3 mRNAs by binding to its 3-UTR and facilitating miRNA regulation (PubMed:22345517). Represses a program of genes necessary to maintain genomic stability such as key mitotic, DNA repair and DNA replication factors. Its ability to repress those target mRNAs is regulated by the lncRNA NORAD (non-coding RNA activated by DNA damage) which, due to its high abundance and multitude of PUMILIO binding sites, is able to sequester a significant fraction of PUM1 and PUM2 in the cytoplasm (PubMed:26724866). Involved in neuronal functions by regulating ATXN1 mRNA levels: acts by binding to the 3-UTR of ATXN1 transcripts, leading to their down-regulation independently of the miRNA machinery (PubMed:25768905). Plays a role in cytoplasmic sensing of viral infection (PubMed:25340845). In testis, acts as a post-transcriptional regulator of spermatogenesis by binding to the 3-UTR of mRNAs coding for regulators of p53/TP53. Involved in embryonic stem cell renewal by facilitating the exit from the ground state: acts by targeting mRNAs coding for naive pluripotency transcription factors and accelerates their down-regulation at the onset of differentiation (By similarity).
UniProtKB/Swiss-Prot Induction:
Strongly down-regulated in keratinocytes upon UVB irradiation.

Gene Ontology (GO) - Molecular Function for PUM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA,IDA 26724866
GO:0003730 mRNA 3-UTR binding IDA 18776931
GO:0005515 protein binding IPI 25340845
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with PUM1: view
genes like me logo Genes that share phenotypes with PUM1: view

Animal Models for PUM1 Gene

MGI Knock Outs for PUM1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PUM1 Gene

Localization for PUM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PUM1 Gene

Cytoplasm. Cytoplasm, P-body. Cytoplasmic granule. Note=Recruited to cytoplasmic stress granules upon viral infection. {ECO:0000269 PubMed:25340845}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PUM1 Gene COMPARTMENTS Subcellular localization image for PUM1 gene
Compartment Confidence
cytosol 5
mitochondrion 3
nucleus 3
extracellular 1

Gene Ontology (GO) - Cellular Components for PUM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000932 cytoplasmic mRNA processing body IDA 20818387
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0010494 cytoplasmic stress granule IDA 25340845
genes like me logo Genes that share ontologies with PUM1: view

Pathways & Interactions for PUM1 Gene

genes like me logo Genes that share pathways with PUM1: view

Pathways by source for PUM1 Gene

Gene Ontology (GO) - Biological Process for PUM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006417 regulation of translation IEA --
GO:0007283 spermatogenesis ISS --
GO:0008344 adult locomotory behavior ISS --
GO:0010608 posttranscriptional regulation of gene expression IDA 25100735
GO:0016441 posttranscriptional gene silencing ISS --
genes like me logo Genes that share ontologies with PUM1: view

No data available for SIGNOR curated interactions for PUM1 Gene

Transcripts for PUM1 Gene

Unigene Clusters for PUM1 Gene

Pumilio homolog 1 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PUM1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12 ^
SP1: - - - - - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5: - - - - - - - - - - - - -
SP6: -
SP7: - - - -
SP8: - - - - - - - - -
SP9: - - - - - - - - - - -
SP10:
SP11: - - - -
SP12: - - - - - - - - - - - -
SP13: - - - - - - - -
SP14: -
SP15: - - - - - - - - - - - - - - - - -
SP16: - - - - - - - - - - - - - - - -
SP17:
SP18: - - - - - - - - - - - - - -
SP19:
SP20: - - - - - - - - - - -
SP21: -
SP22:
SP23:
SP24:
SP25:
SP26:
SP27: -
SP28: - - - - - - -

ExUns: 13a · 13b ^ 14a · 14b · 14c · 14d ^ 15a · 15b ^ 16a · 16b · 16c ^ 17a · 17b · 17c ^ 18 ^ 19a · 19b · 19c ^ 20a · 20b ^ 21 ^ 22 ^ 23a · 23b · 23c ^ 24 ^
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - - -
SP5: - - - -
SP6: - - -
SP7:
SP8:
SP9: - -
SP10: -
SP11:
SP12:
SP13: -
SP14: - - - - -
SP15: - - - - - - - - - - - - - - - -
SP16: - - - - - - - - - - - - - - - - - - - - - - -
SP17: - - -
SP18:
SP19:
SP20:
SP21:
SP22: - -
SP23: - -
SP24: -
SP25: - -
SP26:
SP27:
SP28:

ExUns: 25a · 25b · 25c ^ 26a · 26b ^ 27 ^ 28 ^ 29
SP1: -
SP2: -
SP3: -
SP4: -
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27:
SP28:

Relevant External Links for PUM1 Gene

GeneLoc Exon Structure for
PUM1
ECgene alternative splicing isoforms for
PUM1

Expression for PUM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PUM1 Gene

Protein differential expression in normal tissues from HIPED for PUM1 Gene

This gene is overexpressed in Bone (19.2), Peripheral blood mononuclear cells (10.6), and Breast (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PUM1 Gene



Protein tissue co-expression partners for PUM1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PUM1 Gene:

PUM1

SOURCE GeneReport for Unigene cluster for PUM1 Gene:

Hs.281707

mRNA Expression by UniProt/SwissProt for PUM1 Gene:

Q14671-PUM1_HUMAN
Tissue specificity: Expressed in brain, heart, kidney, muscle, intestine and stomach. Not expressed in cerebellum, corpus callosum, caudate nucleus, hippocampus, medulla oblongata and putamen. Expressed in all fetal tissues tested.
genes like me logo Genes that share expression patterns with PUM1: 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 PUM1 Gene

Orthologs for PUM1 Gene

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

Orthologs for PUM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PUM1 34 35
  • 99.83 (n)
oppossum
(Monodelphis domestica)
Mammalia PUM1 35
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PUM1 34 35
  • 95.76 (n)
dog
(Canis familiaris)
Mammalia PUM1 34 35
  • 95.45 (n)
rat
(Rattus norvegicus)
Mammalia Pum1 34
  • 93.94 (n)
mouse
(Mus musculus)
Mammalia Pum1 34 16 35
  • 93.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PUM1 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves PUM1 34 35
  • 84.83 (n)
lizard
(Anolis carolinensis)
Reptilia PUM1 35
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pum1 34
  • 77.7 (n)
Str.2443 34
zebrafish
(Danio rerio)
Actinopterygii pum1 34 35
  • 72.96 (n)
zgc63671 34
fruit fly
(Drosophila melanogaster)
Insecta pum 36 35
  • 78 (a)
worm
(Caenorhabditis elegans)
Secernentea puf-9 36 35
  • 58 (a)
puf-8 36 35
  • 44 (a)
puf-3 35
  • 25 (a)
ManyToMany
puf-11 35
  • 22 (a)
ManyToMany
fbf-2 35
  • 21 (a)
ManyToMany
puf-7 35
  • 21 (a)
ManyToMany
fbf-1 35
  • 20 (a)
ManyToMany
puf-6 35
  • 20 (a)
ManyToMany
puf-5 35
  • 19 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUF3 35
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9347 35
  • 68 (a)
OneToMany
Species where no ortholog for PUM1 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)
  • 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 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 PUM1 Gene

ENSEMBL:
Gene Tree for PUM1 (if available)
TreeFam:
Gene Tree for PUM1 (if available)

Paralogs for PUM1 Gene

Paralogs for PUM1 Gene

genes like me logo Genes that share paralogs with PUM1: view

Variants for PUM1 Gene

Sequence variations from dbSNP and Humsavar for PUM1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1015099 -- 31,027,812(-) CAAAT(A/G)TTTGA intron-variant
rs1053379 -- 30,939,301(+) TAAGC(A/G)GCAGC intron-variant
rs10555480 -- 31,051,625(+) TTTTT(-/T)GCCTG intron-variant
rs10570305 -- 31,014,112(+) CCTGG(-/AA)AACAT intron-variant
rs10592751 -- 31,029,933(+) AAAAA(-/A)GGCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PUM1 Gene

Variant ID Type Subtype PubMed ID
esv2661973 CNV deletion 23128226
esv2746297 CNV deletion 23290073
esv3560327 CNV deletion 23714750
esv3585639 CNV loss 21293372
esv3585640 CNV loss 21293372
nsv470707 CNV gain 18288195
nsv506925 OTHER sequence alteration 20534489
nsv545949 CNV loss 21841781
nsv545950 CNV loss 21841781
nsv7701 CNV insertion 18451855
nsv945863 CNV duplication 23825009
nsv945864 CNV duplication 23825009
nsv947423 CNV duplication 23825009

Variation tolerance for PUM1 Gene

Residual Variation Intolerance Score: 2.45% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.82; 34.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PUM1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PUM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PUM1 Gene

Disorders for PUM1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PUM1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
intermediate charcot-marie-tooth neuropathy
subcorneal pustular dermatosis
  • sneddon-wilkinson disease or syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PUM1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PUM1

Genetic Association Database (GAD)
PUM1
Human Genome Epidemiology (HuGE) Navigator
PUM1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PUM1
genes like me logo Genes that share disorders with PUM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PUM1 Gene

Publications for PUM1 Gene

  1. Comparative analysis of mRNA targets for human PUF-family proteins suggests extensive interaction with the miRNA regulatory system. (PMID: 18776931) Galgano A. … Gerber A.P. (PLoS ONE 2008) 3 4 22 64
  2. Modular recognition of RNA by a human pumilio-homology domain. (PMID: 12202039) Wang X. … Hall T.M.T. (Cell 2002) 3 4 22 64
  3. Noncoding RNA NORAD regulates genomic stability by sequestering PUMILIO proteins. (PMID: 26724866) Lee S. … Mendell J.T. (Cell 2016) 3 4 64
  4. Pumilio1 haploinsufficiency leads to SCA1-like neurodegeneration by increasing wild-type Ataxin1 levels. (PMID: 25768905) Gennarino V.A. … Zoghbi H.Y. (Cell 2015) 3 4 64
  5. A novel function of human Pumilio proteins in cytoplasmic sensing of viral infection. (PMID: 25340845) Narita R. … Fujita T. (PLoS Pathog. 2014) 3 4 64

Products for PUM1 Gene

Sources for PUM1 Gene

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