Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    PUM1 pumilio RNA binding family member 1 [ Homo sapiens (human) ]

    Gene ID: 9698, updated on 8-Jun-2016
    Official Symbol
    PUM1provided by HGNC
    Official Full Name
    pumilio RNA binding family member 1provided by HGNC
    Primary source
    HGNC:HGNC:14957
    See related
    Ensembl:ENSG00000134644 HPRD:06230; MIM:607204; Vega:OTTHUMG00000003795
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PUMH; HSPUM; PUMH1; PUML1
    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 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]
    Orthologs
    Location:
    1p35.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (30931506..31065717, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (31404353..31538838, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC400748 Neighboring gene syndecan 3 Neighboring gene small nucleolar RNA, C/D box 103A Neighboring gene small nucleolar RNA, C/D box 103B Neighboring gene small nucleolar RNA, C/D box 103C Neighboring gene 40S ribosomal protein S29 pseudogene Neighboring gene selenoprotein W, 1 pseudogene Neighboring gene ribosomal protein L21 pseudogene 22

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
      Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
    • Golgi Associated Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
      Golgi Associated Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
      trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0099

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mRNA 3'-UTR binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    poly(A) RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    adult locomotory behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mRNA destabilization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of RIG-I signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of gene silencing by miRNA IDA
    Inferred from Direct Assay
    more info
    PubMed 
    posttranscriptional gene silencing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    posttranscriptional regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of chromosome segregation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of gene silencing by miRNA TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of mRNA stability IDA
    Inferred from Direct Assay
    more info
    PubMed 
    spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    stem cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    cytoplasmic mRNA processing body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic stress granule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    pumilio homolog 1
    Names
    pumilio RNA-binding family member 1
    pumilio-1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001020658.1NP_001018494.1  pumilio homolog 1 isoform 1

      See identical proteins and their annotated locations for NP_001018494.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform.
      Source sequence(s)
      AF315592, AK222605, AL699026, CN402209
      Consensus CDS
      CCDS44099.1
      UniProtKB/Swiss-Prot
      Q14671
      Related
      ENSP00000391723, OTTHUMP00000235191, ENST00000426105, OTTHUMT00000393198
      Conserved Domains (1) summary
      cd07920
      Location:8431166
      Pumilio; Pumilio-family RNA binding domain
    2. NM_014676.2NP_055491.1  pumilio homolog 1 isoform 2

      See identical proteins and their annotated locations for NP_055491.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate, in-frame splice site in the coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AF315592, AL699026, CN402209
      Consensus CDS
      CCDS338.1
      UniProtKB/Swiss-Prot
      Q14671
      Related
      ENSP00000257075, OTTHUMP00000003892, ENST00000257075, OTTHUMT00000010671
      Conserved Domains (1) summary
      cd07920
      Location:8431164
      Pumilio; Pumilio-family RNA binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      30931506..31065717 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      31520440..31654362 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)