PUM1 (pumilio RNA binding family member 1)

2003-05-01 Affiliation

Identity

HGNC

PUM1

LOCATION

1p35.2

LOCUSID

9698

ALIAS

HSPUM,PUMH,PUMH1,PUML1,SCA47

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 9698
MIM: 607204
HGNC: 14957
Ensembl: ENSG00000134644

Variants:

dbSNP: 9698
ClinVar: 9698
TCGA: ENSG00000134644
COSMIC: PUM1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000134644	ENST00000257075	Q14671
ENSG00000134644	ENST00000373741	Q5T1Z8
ENSG00000134644	ENST00000373742	Q14671
ENSG00000134644	ENST00000373747	Q5T1Z4
ENSG00000134644	ENST00000424085	E9PR38
ENSG00000134644	ENST00000426105	Q14671
ENSG00000134644	ENST00000440538	Q14671
ENSG00000134644	ENST00000480602	E9PMX1
ENSG00000134644	ENST00000498419	H0YDK8
ENSG00000134644	ENST00000525843	H0YEH2
ENSG00000134644	ENST00000525948	E9PM68
ENSG00000134644	ENST00000525997	H0YDC5
ENSG00000134644	ENST00000526215	E9PM68
ENSG00000134644	ENST00000527498	H0YCK1
ENSG00000134644	ENST00000529846	H0YC97
ENSG00000134644	ENST00000530669	H0YDQ6
ENSG00000134644	ENST00000531867	E9PL65
ENSG00000134644	ENST00000532678	H0YED4

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
trans-Golgi Network Vesicle Budding	REACTOME	R-HSA-199992
Clathrin derived vesicle budding	REACTOME	R-HSA-421837
Golgi Associated Vesicle Biogenesis	REACTOME	R-HSA-432722

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
26724866	2016	Noncoding RNA NORAD Regulates Genomic Stability by Sequestering PUMILIO Proteins.	176
20818387	2010	A Pumilio-induced RNA structure switch in p27-3' UTR controls miR-221 and miR-222 accessibility.	168
18411299	2008	Ribonomic analysis of human Pum1 reveals cis-trans conservation across species despite evolution of diverse mRNA target sets.	85
22345517	2012	Pumilio facilitates miRNA regulation of the E2F3 oncogene.	68
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
18211679	2008	Identification of genes for normalization of real-time RT-PCR data in breast carcinomas.	39
18328718	2008	Structures of human Pumilio with noncognate RNAs reveal molecular mechanisms for binding promiscuity.	31
21397187	2011	Alternate modes of cognate RNA recognition by human PUMILIO proteins.	27
29474920	2018	A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.	24
25512524	2014	A divergent Pumilio repeat protein family for pre-rRNA processing and mRNA localization.	19

Citation

Dessen P

PUM1 (pumilio RNA binding family member 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/41949/pum1