Human Gene PUM1 (ENST00000426105.7_8) from GENCODE V47lift37
  Description: pumilio RNA binding family member 1, transcript variant 1 (from RefSeq NM_001020658.2)
Gencode Transcript: ENST00000426105.7_8
Gencode Gene: ENSG00000134644.16_16
Transcript (Including UTRs)
   Position: hg19 chr1:31,404,353-31,538,564 Size: 134,212 Total Exon Count: 22 Strand: -
Coding Region
   Position: hg19 chr1:31,406,058-31,532,413 Size: 126,356 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:31,404,353-31,538,564)mRNA (may differ from genome)Protein (1188 aa)
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PUM1_HUMAN
DESCRIPTION: RecName: Full=Pumilio homolog 1; Short=HsPUM; Short=Pumilio-1;
FUNCTION: Sequence-specific RNA-binding protein that regulates translation and mRNA stability by binding the 3'-UTR of mRNA targets. May be required to support proliferation and self-renewal of stem cells (By similarity).
SUBUNIT: Binds in a sequence-specific manner to the 3'-UTR of some mRNAs.
SUBCELLULAR LOCATION: Cytoplasm (Probable).
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.
INDUCTION: Strongly down-regulated in keratinocytes upon UVB irradiation.
DOMAIN: The pumilio repeats mediate the association with RNA by packing together to form a right-handed superhelix that approximates a half doughnut. The number as well as the specific sequence of the repeats determine the specificity for target mRNAs.
SIMILARITY: Contains 1 PUM-HD domain.
SIMILARITY: Contains 8 pumilio repeats.
SEQUENCE CAUTION: Sequence=BAA07895.3; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PUM1
Diseases sorted by gene-association score: intermediate charcot-marie-tooth neuropathy (2), subcorneal pustular dermatosis (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 20.48 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 742.81 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -39.70113-0.351 Picture PostScript Text
3' UTR -379.201705-0.222 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR001313 - Pumilio_RNA-bd_rpt

Pfam Domains:
PF00806 - Pumilio-family RNA binding repeat

SCOP Domains:
48371 - ARM repeat
48029 - FliG

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1IB2 - X-ray MuPIT 1M8W - X-ray MuPIT 1M8X - X-ray MuPIT 1M8Y - X-ray MuPIT 1M8Z - X-ray MuPIT 2YJY - X-ray MuPIT 3BSB - X-ray MuPIT 3BSX - X-ray MuPIT 3Q0L - X-ray MuPIT 3Q0M - X-ray MuPIT 3Q0N - X-ray MuPIT 3Q0O - X-ray MuPIT 3Q0P - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q14671
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0003730 mRNA 3'-UTR binding
GO:0005515 protein binding
GO:0035198 miRNA binding

Biological Process:
GO:0006417 regulation of translation
GO:0007283 spermatogenesis
GO:0008344 adult locomotory behavior
GO:0010608 posttranscriptional regulation of gene expression
GO:0016441 posttranscriptional gene silencing
GO:0030154 cell differentiation
GO:0035196 production of miRNAs involved in gene silencing by miRNA
GO:0043488 regulation of mRNA stability
GO:0048863 stem cell differentiation
GO:0051726 regulation of cell cycle
GO:0051983 regulation of chromosome segregation
GO:0060964 regulation of gene silencing by miRNA
GO:0061157 mRNA destabilization
GO:1900246 positive regulation of RIG-I signaling pathway
GO:2000637 positive regulation of gene silencing by miRNA

Cellular Component:
GO:0000932 P-body
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0010494 cytoplasmic stress granule
GO:0016607 nuclear speck


-  Descriptions from all associated GenBank mRNAs
  AF315592 - Homo sapiens Pumilio 1 (PUMH1) mRNA, complete cds.
LF385428 - JP 2014500723-A/192931: Polycomb-Associated Non-Coding RNAs.
BC013398 - Homo sapiens pumilio homolog 1 (Drosophila), mRNA (cDNA clone MGC:3890 IMAGE:3528160), complete cds.
AK222605 - Homo sapiens mRNA for pumilio homolog 1 variant, clone: CAS08611.
AK056662 - Homo sapiens cDNA FLJ32100 fis, clone OCBBF2001166, weakly similar to MATERNAL PUMILIO PROTEIN.
D43951 - Homo sapiens mRNA for KIAA0099 protein, partial cds.
AK300457 - Homo sapiens cDNA FLJ54549 complete cds, highly similar to Pumilio homolog 1.
AK096476 - Homo sapiens cDNA FLJ39157 fis, clone OCBBF2002083, highly similar to Pumilio homolog 1.
BX647437 - Homo sapiens mRNA; cDNA DKFZp686J22171 (from clone DKFZp686J22171).
AK294477 - Homo sapiens cDNA FLJ56067 complete cds, highly similar to Pumilio homolog 1.
AK291779 - Homo sapiens cDNA FLJ76318 complete cds, highly similar to Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), mRNA.
JF432347 - Synthetic construct Homo sapiens clone IMAGE:100073535 pumilio homolog 1 (Drosophila) (PUM1) gene, encodes complete protein.
KJ898075 - Synthetic construct Homo sapiens clone ccsbBroadEn_07469 PUM1 gene, encodes complete protein.
AB385279 - Synthetic construct DNA, clone: pF1KA0099, Homo sapiens PUM1 gene for pumilio homolog 1, complete cds, without stop codon, in Flexi system.
GQ334687 - Homo sapiens isolate PUM1_FUS_19q_I PUM1 fusion protein mRNA, complete cds.
GQ334688 - Homo sapiens isolate PUM1_FUS_19q_II PUM1 fusion protein mRNA, complete cds.
MA621005 - JP 2018138019-A/192931: Polycomb-Associated Non-Coding RNAs.
JD262668 - Sequence 243692 from Patent EP1572962.
JD304041 - Sequence 285065 from Patent EP1572962.
JD295195 - Sequence 276219 from Patent EP1572962.
JD563979 - Sequence 545003 from Patent EP1572962.
JD281892 - Sequence 262916 from Patent EP1572962.
JD327849 - Sequence 308873 from Patent EP1572962.
JD166236 - Sequence 147260 from Patent EP1572962.
JD507256 - Sequence 488280 from Patent EP1572962.
JD304866 - Sequence 285890 from Patent EP1572962.
JD284383 - Sequence 265407 from Patent EP1572962.
JD349173 - Sequence 330197 from Patent EP1572962.
JD094283 - Sequence 75307 from Patent EP1572962.
JD337916 - Sequence 318940 from Patent EP1572962.
JD428543 - Sequence 409567 from Patent EP1572962.
JD411025 - Sequence 392049 from Patent EP1572962.
JD381666 - Sequence 362690 from Patent EP1572962.
JD554991 - Sequence 536015 from Patent EP1572962.
CU680592 - Synthetic construct Homo sapiens gateway clone IMAGE:100020588 5' read PUM1 mRNA.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q14671 (Reactome details) participates in the following event(s):

R-HSA-434362 Recruitment Of Cytoplasmic Proteins To Vesicles
R-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-421837 Clathrin derived vesicle budding
R-HSA-199992 trans-Golgi Network Vesicle Budding
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: A8K6W4, B4DG92, D3DPN3, E9PCJ0, ENST00000426105.1, ENST00000426105.2, ENST00000426105.3, ENST00000426105.4, ENST00000426105.5, ENST00000426105.6, KIAA0099 , NM_001020658, PUM1 , PUM1_HUMAN, PUMH1, Q14671, Q53HH5, Q5VXY7, Q9HAN1, uc319vgm.1, uc319vgm.2
UCSC ID: ENST00000426105.7_8
RefSeq Accession: NM_001020658.2
Protein: Q14671 (aka PUM1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene PUM1:
ataxias (Hereditary Ataxia Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.