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

Gene ID: 9698, updated on 4-Nov-2018

Summary

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 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; SCA47
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]
Expression
Ubiquitous expression in thyroid (RPKM 21.8), ovary (RPKM 19.8) and 25 other tissues See more
Orthologs

Genomic context

See PUM1 in Genome Data Viewer
Location:
1p35.2
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 syndecan 3 Neighboring gene RNA, 7SL, cytoplasmic 371, pseudogene 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 pseudogene 1 Neighboring gene ribosomal protein L21 pseudogene 22

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0099

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
mRNA 3'-UTR binding IDA
Inferred from Direct Assay
more info
PubMed 
miRNA 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 
posttranscriptional regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
production of miRNAs involved in gene silencing by miRNA IMP
Inferred from Mutant Phenotype
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
P-body IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic stress granule IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
pumilio homolog 1
Names
pumilio-1

NCBI Reference Sequences (RefSeq)

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
    ENSP00000391723.2, OTTHUMP00000235191, ENST00000426105.6, 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
    ENSP00000257075.5, OTTHUMP00000003892, ENST00000257075.9, OTTHUMT00000010671
    Conserved Domains (1) summary
    cd07920
    Location:8431164
    Pumilio; Pumilio-family RNA binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

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