PUM1 - pumilio RNA binding family member 1 Gene

Homo sapiens

Also known as PUMH; HSPUM; PUMH1; PUML1; SCA47

Gene ID: 9698 | Gene type: protein coding

About PUM1

Cytogenetic location: 1p35.2 Genomic coordinates (GRCh38): 1:30,931,506-31,065,717 (from NCBI)

This gene has 23 transcripts (splice variants), 221 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 21.8), ovary (RPKM 19.8) and 25 other tissues.

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]

PUM1 Products(2)

mRNA	Protein	Name
NM_001020658.2	NP_001018494.1	pumilio homolog 1 isoform 1
NM_014676.3	NP_055491.1	pumilio homolog 1 isoform 2

PUM1 Protein Structure

PUF

0
200
400
600
800
1000
1186 a.a.

Protein Preferred Names

Protein Names

pumilio homolog 1

pumilio-1

PUM1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PUM1	Q14671	YWHAE	Homo sapiens	P62258	Crosslink	36931259
Intra	PUM1	Q14671	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	PUM1	Q14671	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	PUM1	Q14671	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Spinocerebellar Ataxia 47

SCA47

Pum1-Associated Developmental Disability-Ataxia-Seizure Syndrome

Paddas Syndrome

Sca47

Cerebellar Ataxia Type 47

Sca47

Spastic Ataxia

Spax	Ataxia, Spastic

Testis Seminoma

Seminoma Of Testis	Seminoma Testis
Testicular Seminoma Pure	Seminoma

Spinocerebellar Ataxia 1

Spinocerebellar Ataxia Type 1	SCA1
Olivopontocerebellar Atrophy I	Opca1
Opca4	Menzel Type Opca
Schut-Haymaker Type Opca	Spinocerebellar Atrophy I
Opca I	Olivopontocerebellar Atrophy Iv
Opca Iv	Cerebelloparenchymal Disorder I
Cpd1	Olivopontocerebellar Atrophy 1
Cerebelloparenchymal Disorder 1	Olivopontocerebellar Atrophy 4
Spinocerebellar Atrophy 1	Type 1 Spinocerebellar Ataxia
Spinocerebellar Ataxia-1	Ataxia, Spinocerebellar, Type 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11461	PUM1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PUM1	VGNC	VGNC:76479
Rattus norvegicus	PUM1	RGD	RGD:1307190
Canis familiaris	PUM1	VGNC	VGNC:45206
Bos taurus	PUM1	VGNC	VGNC:33569
Mus musculus	PUM1	MGD	MGI:1931749
Felis catus	PUM1	VGNC	VGNC:64436

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