PUM1

Protein identityUniProt · HPA

UniProt accession

Q14671

Gene

PUM1

Ensembl

ENSG00000134644

Chromosome

1

Canonical length

1186 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

1186 residues, UniProt reviewed canonical sequence.

>Q14671|PUM1
     1  MSVACVLKRK AVLWQDSFSP HLKHHPQEPA NPNMPVVLTS GTGSQAQPQP AANQALAAGT
    61  HSSPVPGSIG VAGRSQDDAM VDYFFQRQHG EQLGGGGSGG GGYNNSKHRW PTGDNIHAEH
   121  QVRSMDELNH DFQALALEGR AMGEQLLPGK KFWETDESSK DGPKGIFLGD QWRDSAWGTS
   181  DHSVSQPIMV QRRPGQSFHV NSEVNSVLSP RSESGGLGVS MVEYVLSSSP GDSCLRKGGF
   241  GPRDADSDEN DKGEKKNKGT FDGDKLGDLK EEGDVMDKTN GLPVQNGIDA DVKDFSRTPG
   301  NCQNSANEVD LLGPNQNGSE GLAQLTSTNG AKPVEDFSNM ESQSVPLDPM EHVGMEPLQF
   361  DYSGTQVPVD SAAATVGLFD YNSQQQLFQR PNALAVQQLT AAQQQQYALA AAHQPHIGLA
   421  PAAFVPNPYI ISAAPPGTDP YTAGLAAAAT LGPAVVPHQY YGVTPWGVYP ASLFQQQAAA
   481  AAAATNSANQ QTTPQAQQGQ QQVLRGGASQ RPLTPNQNQQ GQQTDPLVAA AAVNSALAFG
   541  QGLAAGMPGY PVLAPAAYYD QTGALVVNAG ARNGLGAPVR LVAPAPVIIS SSAAQAAVAA
   601  AAASANGAAG GLAGTTNGPF RPLGTQQPQP QPQQQPNNNL ASSSFYGNNS LNSNSQSSSL
   661  FSQGSAQPAN TSLGFGSSSS LGATLGSALG GFGTAVANSN TGSGSRRDSL TGSSDLYKRT
   721  SSSLTPIGHS FYNGLSFSSS PGPVGMPLPS QGPGHSQTPP PSLSSHGSSS SLNLGGLTNG
   781  SGRYISAAPG AEAKYRSASS ASSLFSPSST LFSSSRLRYG MSDVMPSGRS RLLEDFRNNR
   841  YPNLQLREIA GHIMEFSQDQ HGSRFIQLKL ERATPAERQL VFNEILQAAY QLMVDVFGNY
   901  VIQKFFEFGS LEQKLALAER IRGHVLSLAL QMYGCRVIQK ALEFIPSDQQ NEMVRELDGH
   961  VLKCVKDQNG NHVVQKCIEC VQPQSLQFII DAFKGQVFAL STHPYGCRVI QRILEHCLPD
  1021  QTLPILEELH QHTEQLVQDQ YGNYVIQHVL EHGRPEDKSK IVAEIRGNVL VLSQHKFASN
  1081  VVEKCVTHAS RTERAVLIDE VCTMNDGPHS ALYTMMKDQY ANYVVQKMID VAEPGQRKIV
  1141  MHKIRPHIAT LRKYTYGKHI LAKLEKYYMK NGVDLGPICG PPNGII

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PUM1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.56

Highest tissue expression

49 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PUM1.

Disease | AllUniProt

Conditions PUM1 is implicated in, by any mechanism.

• Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism (NEDMSF) MIM:620719

Disease | GeneticClinVar

24 pathogenic / likely-pathogenic of 377 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Spinocerebellar ataxia 47
• Inborn genetic diseases
• PUM1-associated developmental disability-ataxia-seizure syndrome
• Spastic ataxia
• Neurodevelopmental delay

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.13

gnomAD pLI

1

gnomAD missense Z

4.42

DepMap mean gene effect

-0.21

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• 3'-UTR-mediated mRNA destabilization
• adult locomotory behavior
• miRNA processing
• mRNA destabilization
• positive regulation of miRNA-mediated gene silencing
• positive regulation of RIG-I signaling pathway
• post-transcriptional gene silencing
• post-transcriptional regulation of gene expression
• regulation of cell cycle
• regulation of chromosome segregation
• regulation of miRNA-mediated gene silencing
• regulation of mRNA stability
• regulation of translation
• spermatogenesis
• stem cell differentiation

Molecular functions

• miRNA binding
• mRNA 3'-UTR binding
• RNA binding

Cellular components

• axon
• cytoplasm
• cytoplasmic stress granule
• cytosol
• nucleoplasm
• P-body

Protein domainsUniProt · Pfam · InterPro

• Pumilio RNA-binding repeat
• Armadillo-like helical
• Armadillo-type fold
• Pumilio homology domain
• Pumilio, RNA binding domain
• Pumilio-family RNA binding repeat

KeywordsUniProt

• Acetylation
• Cytoplasm
• Differentiation
• Epilepsy
• Intellectual disability
• Methylation
• Neurodegeneration
• Phosphoprotein
• Repeat
• RNA-binding
• Spermatogenesis
• Spinocerebellar ataxia
• Translation regulation

InteractionsUniProt · HPA

Protein binding partners of PUM1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DHX58
• TRIM71
• YWHAB
• YWHAE