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Aliases for PUM1 Gene

Aliases for PUM1 Gene

  • Pumilio RNA-Binding Family Member 1 2 3
  • Pumilio-1 3 4
  • KIAA0099 4 6
  • HSPUM 3 4
  • PUMH1 3 4
  • Pumilio (Drosophila) Homolog 1 2
  • Pumilio Homolog 1 (Drosophila) 2
  • Pumilio Homolog 1 3
  • 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. Among its related pathways are Translational Control and Clathrin derived vesicle budding. GO annotations related to this gene include RNA binding. An important paralog of this gene is PUM2.

UniProtKB/Swiss-Prot for PUM1 Gene

  • Sequence-specific RNA-binding protein that negatively regulates translation and mRNA stability 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). Capable of deadenylation-dependent and -independent modes of repression. May be required to support proliferation and self-renewal of stem cells.

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

Genomic Location for PUM1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.
    SequenceCaution:
    • Sequence=BAA07895.3; Type=Erroneous initiation; 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

Proteomics data for PUM1 Gene at MOPED

Post-translational modifications for PUM1 Gene

  • Ubiquitination at Lys718, Lys794, and Lys1084
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PUM1 Gene

Domains 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 :
  • Q14671
Domain:
  • The pumilio repeats mediate the association with RNA by packing together to form a right-handed superhelix that approximates a half doughnut. RNA-binding occurs on the concave side of the surface (PubMed:21397187).
  • 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 negatively regulates translation and mRNA stability 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). Capable of deadenylation-dependent and -independent modes of repression. May be required to support proliferation and self-renewal of stem cells.
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 --
GO:0005488 binding --
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:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for PUM1 Gene

Localization for PUM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PUM1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PUM1 Gene COMPARTMENTS Subcellular localization image for PUM1 gene
Compartment Confidence
cytosol 4
mitochondrion 2
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for PUM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PUM1: view

Pathways 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:0006892 post-Golgi vesicle-mediated transport TAS --
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with PUM1: view

Transcripts for PUM1 Gene

Unigene Clusters for PUM1 Gene

Pumilio homolog 1 (Drosophila):
Representative Sequences:

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 for PUM1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PUM1 Gene

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 expressions with PUM1: view

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 35
  • 99.83 (n)
  • 100 (a)
PUM1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PUM1 35
  • 95.76 (n)
  • 99.58 (a)
PUM1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PUM1 35
  • 95.45 (n)
  • 99.49 (a)
PUM1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pum1 35
  • 93.91 (n)
  • 98.99 (a)
Pum1 16
Pum1 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PUM1 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PUM1 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pum1 35
  • 93.94 (n)
  • 98.99 (a)
chicken
(Gallus gallus)
Aves PUM1 35
  • 84.83 (n)
  • 96.35 (a)
PUM1 36
  • 98 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PUM1 36
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pum1 35
  • 77.7 (n)
  • 91.13 (a)
Str.2443 35
zebrafish
(Danio rerio)
Actinopterygii pum1 35
  • 72.96 (n)
  • 83.22 (a)
pum1 36
  • 82 (a)
OneToOne
zgc63671 35
fruit fly
(Drosophila melanogaster)
Insecta pum 36
  • 30 (a)
OneToMany
pum 37
  • 78 (a)
worm
(Caenorhabditis elegans)
Secernentea fbf-1 36
  • 20 (a)
ManyToMany
fbf-2 36
  • 21 (a)
ManyToMany
puf-11 36
  • 22 (a)
ManyToMany
puf-3 36
  • 25 (a)
ManyToMany
puf-5 36
  • 19 (a)
ManyToMany
puf-6 36
  • 20 (a)
ManyToMany
puf-7 36
  • 21 (a)
ManyToMany
puf-8 36
  • 37 (a)
ManyToMany
puf-9 36
  • 40 (a)
ManyToMany
puf-9 37
  • 58 (a)
puf-8 37
  • 44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUF3 36
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9347 36
  • 68 (a)
OneToMany
Species with no ortholog for PUM1:
  • 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 MAF
rs1316 -- 30,933,020(+) TGTTA(A/T)GTGTA utr-variant-3-prime
rs1473 -- 30,940,072(+) AAGTC(A/G)TAAGA intron-variant
rs947643 -- 30,988,591(-) ACATA(C/T)TTTTC intron-variant
rs955809 -- 31,062,710(+) CCATC(A/G)GCCTA intron-variant
rs1015099 -- 31,027,812(-) CAAAT(A/G)TTTGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv470707 CNV Gain 18288195
nsv7701 CNV Insertion 18451855
esv2746297 CNV Deletion 23290073
nsv506925 CNV Insertion 20534489
esv2661973 CNV Deletion 23128226

Relevant External Links for PUM1 Gene

HapMap Linkage Disequilibrium report
PUM1

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

Disorders for PUM1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for PUM1 Gene including...

Search for PUM1 Gene in MalaCards »

Relevant External Links for PUM1

Genetic Association Database (GAD)
PUM1
Human Genome Epidemiology (HuGE) Navigator
PUM1
genes like me logo Genes that share disorders with PUM1: view

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

Publications for PUM1 Gene

  1. Modular recognition of RNA by a human pumilio-homology domain. (PMID: 12202039) Wang X. … Hall T.M.T. (Cell 2002) 3 4 23
  2. Ribonomic analysis of human Pum1 reveals cis-trans conservation across species despite evolution of diverse mRNA target sets. (PMID: 18411299) Morris A.R. … Keene J.D. (Mol. Cell. Biol. 2008) 3 23
  3. Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1. (PMID: 7788527) Nagase T. … Nomura N. (DNA Res. 1995) 3 4
  4. Crystal structure of a Pumilio homology domain. (PMID: 11336708) Wang X. … Hall T.M.T. (Mol. Cell 2001) 3 4
  5. Cloning and comparative sequence analysis of PUM1 and PUM2 genes, human members of the Pumilio family of RNA-binding proteins. (PMID: 12459267) Spassov D.S. … Jurecic R. (Gene 2002) 3 4

Products for PUM1 Gene

Sources for PUM1 Gene

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