ENSG00000134644


Homo sapiens

Features
Gene ID: ENSG00000134644
  
Biological name :PUM1
  
Synonyms : PUM1 / pumilio RNA binding family member 1 / Q14671
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p35.2
Gene start: 30931506
Gene end: 31065991
  
Corresponding Affymetrix probe sets: 201164_s_at (Human Genome U133 Plus 2.0 Array)   201165_s_at (Human Genome U133 Plus 2.0 Array)   201166_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000433850
Ensembl peptide - ENSP00000434096
Ensembl peptide - ENSP00000437269
Ensembl peptide - ENSP00000436921
Ensembl peptide - ENSP00000435825
Ensembl peptide - ENSP00000435589
Ensembl peptide - ENSP00000257075
Ensembl peptide - ENSP00000362846
Ensembl peptide - ENSP00000362847
Ensembl peptide - ENSP00000362852
Ensembl peptide - ENSP00000391723
Ensembl peptide - ENSP00000400141
Ensembl peptide - ENSP00000401777
Ensembl peptide - ENSP00000431213
Ensembl peptide - ENSP00000431470
Ensembl peptide - ENSP00000431779
Ensembl peptide - ENSP00000433099
Ensembl peptide - ENSP00000433373
NCBI entrez gene - 9698     See in Manteia.
OMIM - 607204
RefSeq - NM_001020658
RefSeq - NM_014676
RefSeq Peptide - NP_055491
RefSeq Peptide - NP_001018494
swissprot - H0YC97
swissprot - H0YCK1
swissprot - H0YDC5
swissprot - H0YDK8
swissprot - H0YDQ6
swissprot - H0YED4
swissprot - H0YEH2
swissprot - Q14671
swissprot - Q5T1Z4
swissprot - E9PR38
swissprot - Q5T1Z8
swissprot - E9PMX1
swissprot - E9PM68
swissprot - E9PL65
Ensembl - ENSG00000134644
  
Related genetic diseases (OMIM): 617931 - Spinocerebellar ataxia 47, 617931
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pum1ENSDARG00000099256Danio rerio
 PUM1ENSGALG00000042598Gallus gallus
 Pum1ENSMUSG00000028580Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PUM2 / Q8TB72 / pumilio RNA binding family member 2ENSG0000005591770


Protein motifs (from Interpro)
Interpro ID Name
 IPR001313  Pumilio RNA-binding repeat
 IPR011989  Armadillo-like helical
 IPR016024  Armadillo-type fold
 IPR033133  Pumilio homology domain
 IPR033712  Pumilio, RNA binding domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006417 regulation of translation IEA
 biological_processGO:0007283 spermatogenesis ISS
 biological_processGO:0008344 adult locomotory behavior ISS
 biological_processGO:0010608 posttranscriptional regulation of gene expression IDA
 biological_processGO:0016441 posttranscriptional gene silencing ISS
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0035196 production of miRNAs involved in gene silencing by miRNA IMP
 biological_processGO:0043488 regulation of mRNA stability IDA
 biological_processGO:0048863 stem cell differentiation ISS
 biological_processGO:0051726 regulation of cell cycle IDA
 biological_processGO:0051983 regulation of chromosome segregation IDA
 biological_processGO:0060964 regulation of gene silencing by miRNA TAS
 biological_processGO:0061157 mRNA destabilization ISS
 biological_processGO:1900246 positive regulation of RIG-I signaling pathway IDA
 biological_processGO:2000637 positive regulation of gene silencing by miRNA IDA
 cellular_componentGO:0000932 P-body IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0010494 cytoplasmic stress granule IDA
 cellular_componentGO:0016607 nuclear speck IDA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0003730 mRNA 3"-UTR binding IDA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0035198 miRNA binding IDA


Pathways (from Reactome)
Pathway description
Golgi Associated Vesicle Biogenesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000167996 FTH1 / P02794 / ferritin heavy chain 1  / complex
 ENSG00000109686 Q5HYK7 / SH3D19 / SH3 domain containing 19  / complex
 ENSG00000087086 FTL / P02792 / ferritin light chain  / complex
 ENSG00000113282 CLINT1 / Q14677 / clathrin interactor 1  / complex






 

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