PUM1 (pumilio RNA binding family member 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9698
Gene name Pumilio RNA binding family member 1
Gene symbol PUM1
Synonyms (NCBI Gene)
HSPUMNEDMSFPUMHPUMH1PUML1SCA47
Chromosome 1
Chromosome location 1p35.2
Summary 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 bindin
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs771145682 T>A,C Likely-pathogenic Missense variant, coding sequence variant
rs1557539450 G>A Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
451
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (451)
miRTarBase ID miRNA Experiments Reference
MIRT016684 hsa-miR-423-3p Sequencing 20371350
MIRT019509 hsa-miR-151a-3p Sequencing 20371350
MIRT025121 hsa-miR-181a-5p Sequencing 20371350
MIRT031662 hsa-miR-16-5p Proteomics 18668040
MIRT032335 hsa-let-7b-5p Proteomics 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
50
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (50)
GO ID Ontology Definition Evidence Reference
GO:0000932 Component P-body IDA 20818387
GO:0000932 Component P-body IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IDA 26724866
GO:0003723 Function RNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607204 14957 ENSG00000134644
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14671
Protein name Pumilio homolog 1 (HsPUM) (Pumilio-1)
Protein 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 Respo
PDB 1IB2 , 1M8W , 1M8X , 1M8Y , 1M8Z , 2YJY , 3BSB , 3BSX , 3Q0L , 3Q0M , 3Q0N , 3Q0O , 3Q0P , 5YKH , 5YKI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00806 PUF 852 → 886 Pumilio-family RNA binding repeat Repeat
PF00806 PUF 889 → 921 Pumilio-family RNA binding repeat Repeat
PF00806 PUF 924 → 957 Pumilio-family RNA binding repeat Repeat
PF00806 PUF 960 → 992 Pumilio-family RNA binding repeat Repeat
PF00806 PUF 996 → 1030 Pumilio-family RNA binding repeat Repeat
PF00806 PUF 1032 → 1066 Pumilio-family RNA binding repeat Repeat
PF00806 PUF 1068 → 1102 Pumilio-family RNA binding repeat Repeat
PF00806 PUF 1112 → 1145 Pumilio-family RNA binding repeat Repeat
Tissue specificity 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. {ECO:0000269|PubMed:124
Sequence 
MSVACVLKRKAVLWQDSFSPHLKHHPQEPANPNMPVVLTSGTGSQAQPQPAANQALAAGT
HSSPVPGSIGVAGRSQDDAMVDYFFQRQHGEQLGGGGSGGGGYNNSKHRWPTGDNIHAEH
QVRSMDELNHDFQALALEGRAMGEQLLPGKKFWETDESSKDGPKGIFLGDQWRDSAWGTS
DHSVSQPIMVQRRPGQSFHVNSEVNSVLSPRSESGGLGVSMVEYVLSSSPGDSCLRKGGF
GPRDADSDENDKGEKKNKGTFDGDKLGDLKEEGDVMDKTNGLPVQNGIDADVKDFSRTPG
NCQNSANEVDLLGPNQNGSEGLAQLTSTNGAKPVEDFSNMESQSVPLDPMEHVGMEPLQF
DYSGTQVPVDSAAATVGLFDYNSQQQLFQRPNALAVQQLTAAQQQQYALAAAHQPHIGLA
PAAFVPNPYIISAAPPGTDPYTAGLAAAATLGPAVVPHQYYGVTPWGVYPASLFQQQAAA
AAAATNSANQQTTPQAQQGQQQVLRGGASQRPLTPNQNQQGQQTDPLVAAAAVNSALAFG
QGLAAGMPGYPVLAPAAYYDQTGALVVNAGARNGLGAPVRLVAPAPVIISSSAAQAAVAA
AAASANGAAGGLAGTTNGPFRPLGTQQPQPQPQQQPNNNLASSSFYGNNSLNSNSQSSSL
FSQGSAQPANTSLGFGSSSSLGATLGSALGGFGTAVANSNTGSGSRRDSLTGSSDLYKRT
SSSLTPIGHSFYNGLSFSSSPGPVGMPLPSQGPGHSQTPPPSLSSHGSSSSLNLGGLTNG
SGRYISAAPGAEAKYRSASSASSLFSPSSTLFSSSRLRYGMSDVMPSGRSRLLEDFRNNR
YPNLQLREIAGHIMEFSQDQHGSRFIQLKLERATPAERQLVFNEILQAAYQLMVDVFGNY
VIQKFFEFGSLEQKLALAERIRGHVLSLALQMYGCRVIQKALEFIPSDQQNEMVRELDGH
VLKCVKDQNGNHVVQKCIECVQPQSLQFIIDAFKGQVFALSTHPYGCRVIQRILEHCLPD
QTLPILEELHQHTEQLVQDQYGNYVIQHVLEHGRPEDKSKIVAEIRGNVLVLSQHKFASN
VVEKCVTHASRTERAVLIDEVCTMNDGPHSALYTMMKDQYANYVVQKMIDVAEPGQRKIV
MHKIRPHIATLRKYTYGKHILAKLEKYYMKNGVDLGPICGPPNGII
Sequence length 1186
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Spinocerebellar ataxia   Golgi Associated Vesicle Biogenesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
90
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental delay Likely pathogenic rs2124510562 RCV002274366
PUM1-associated developmental disability-ataxia-seizure syndrome Likely pathogenic; Pathogenic rs1557539450, rs1557541619 RCV003768266
RCV005409732
PUM1-related disorder Likely pathogenic rs2521564145 RCV003479643
Spastic ataxia Likely pathogenic rs2124008235 RCV001647256
Show/Hide Unknown Diseases (16)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign; Likely benign rs146226392 RCV005932626
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign; Likely benign rs146226392 RCV005932631
Clear cell carcinoma of kidney Benign; Likely benign rs146226392 RCV005932627
Familial cancer of breast Benign; Likely benign rs146226392 RCV005932623
Show/Hide Text Mining Associations (19)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 36439123
Breast Neoplasms Associate 18042273, 18211679, 27526934, 33522650
Carcinogenesis Associate 32316190
Carcinoma Non Small Cell Lung Associate 30229827, 34097560
Colorectal Neoplasms Associate 30755640
Endometrial Neoplasms Associate 32439920
Infertility Associate 29297114
Mental Disorders Associate 37549439
Neoplasm Metastasis Stimulate 37469018
Neoplasms Associate 18211679, 34097560, 34487971, 37469018