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

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; AllianceGenome:HGNC:14957
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; NEDMSF
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: mouse all
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Genomic context

Location:: 1p35.2

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (30931506..31065717, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (30783767..30917854, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (31404353..31538564, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Circular RNA Derived from the Pumilio 1 Gene Could Regulate PTEN in Human Cumulus Cells.
Title: A Circular RNA Derived from the Pumilio 1 Gene Could Regulate PTEN in Human Cumulus Cells.
Pumilio1 regulates NPM3/NPM1 axis to promote PD-L1-mediated immune escape in gastric cancer.
Title: Pumilio1 regulates NPM3/NPM1 axis to promote PD-L1-mediated immune escape in gastric cancer.
PUM1 Promotes Tumor Progression by Activating DEPTOR-Meditated Glycolysis in Gastric Cancer.
Title: PUM1 Promotes Tumor Progression by Activating DEPTOR-Meditated Glycolysis in Gastric Cancer.
PUMILIO competes with AUF1 to control DICER1 RNA levels and miRNA processing.
Title: PUMILIO competes with AUF1 to control DICER1 RNA levels and miRNA processing.
PUM1 mediates the posttranscriptional regulation of human fetal hemoglobin.
Title: PUM1 mediates the posttranscriptional regulation of human fetal hemoglobin.
TLR4 downregulation by the RNA-binding protein PUM1 alleviates cellular aging and osteoarthritis.
Title: TLR4 downregulation by the RNA-binding protein PUM1 alleviates cellular aging and osteoarthritis.
PUMILIO-mediated translational control of somatic cell cycle program promotes folliculogenesis and contributes to ovarian cancer progression.
Title: PUMILIO-mediated translational control of somatic cell cycle program promotes folliculogenesis and contributes to ovarian cancer progression.
Identification of Novel Endogenous Controls for qPCR Normalization in SK-BR-3 Breast Cancer Cell Line.
Title: Identification of Novel Endogenous Controls for qPCR Normalization in SK-BR-3 Breast Cancer Cell Line.
PUM1 modulates trophoblast cell proliferation and migration through LRP6.
Title: PUM1 modulates trophoblast cell proliferation and migration through LRP6.
Novel regulators of PrPC biosynthesis revealed by genome-wide RNA interference.
Title: Novel regulators of PrPC biosynthesis revealed by genome-wide RNA interference.

Submit: New GeneRIF Correction See all GeneRIFs (46)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism MedGen: CN376901 OMIM: 620719 GeneReviews: Not available	not available
Spinocerebellar ataxia 47 MedGen: C4693672 OMIM: 617931 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH25326 (e-PCR)
- UniSTS:75796

G59151 (e-PCR)
- UniSTS:136469

SHGC-74502 (e-PCR)
- UniSTS:83477

AL033634 (e-PCR)
- UniSTS:93466

D1S1161 (e-PCR), detects polymorphism
- UniSTS:11553

D1S3716 (e-PCR)
- UniSTS:31081

D1S233 (e-PCR), detects polymorphism
- UniSTS:46717

PUM1_403 (e-PCR)
- UniSTS:277630

PMC141031P1 (e-PCR)
- UniSTS:270984

RH68367 (e-PCR)
- UniSTS:67723

SHGC-74520 (e-PCR)
- UniSTS:74443

G06256 (e-PCR)
- UniSTS:46293

Pum1 (e-PCR), detects polymorphism
- UniSTS:479215

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables mRNA 3'-UTR binding	IBA Inferred from Biological aspect of Ancestor more info
enables mRNA 3'-UTR binding	IDA Inferred from Direct Assay more info	PubMed
enables mRNA 3'-UTR binding	TAS Traceable Author Statement more info	PubMed
enables miRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in 3'-UTR-mediated mRNA destabilization	TAS Traceable Author Statement more info	PubMed
involved_in adult locomotory behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in mRNA destabilization	ISS Inferred from Sequence or Structural Similarity more info
involved_in miRNA processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in miRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of RIG-I signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of miRNA-mediated gene silencing	IDA Inferred from Direct Assay more info	PubMed
involved_in post-transcriptional gene silencing	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within post-transcriptional regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_positive_effect post-transcriptional regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of chromosome segregation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of mRNA stability	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of mRNA stability	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of miRNA-mediated gene silencing	TAS Traceable Author Statement more info	PubMed
involved_in regulation of translation	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in stem cell differentiation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in P-body	IDA Inferred from Direct Assay more info	PubMed
located_in axon	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic stress granule	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: pumilio homolog 1

Names: pumilio-1

NCBI Reference Sequences (RefSeq)

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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)

NM_001020658.2 → NP_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/TrEMBL

Q5T1Z8

Related

ENSP00000391723.2, ENST00000426105.7

Conserved Domains (1) summary

cd07920
Location:843 → 1166

Pumilio; Pumilio-family RNA binding domain
NM_014676.3 → NP_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

A8K6W4, B4DG92, D3DPN3, E9PCJ0, Q14671, Q53HH5, Q5VXY7, Q9HAN1

UniProtKB/TrEMBL

H0YEH2

Related

ENSP00000257075.5, ENST00000257075.9

Conserved Domains (1) summary

cd07920
Location:843 → 1164

Pumilio; Pumilio-family RNA binding domain