2. Gene
  3. PUM1 - pumilio RNA binding family member 1 Gene

PUM1 - pumilio RNA binding family member 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

PUF: Pumilio-family RNA binding repeat (849 - 882)

PUF

PUF: Pumilio-family RNA binding repeat (885 - 914)

PUF

PUF: Pumilio-family RNA binding repeat (921 - 951)

PUF

PUF: Pumilio-family RNA binding repeat (957 - 984)

PUF

PUF: Pumilio-family RNA binding repeat (993 - 1026)

PUF

PUF: Pumilio-family RNA binding repeat (1029 - 1061)

PUF

PUF: Pumilio-family RNA binding repeat (1064 - 1093)

PUF

PUF: Pumilio-family RNA binding repeat (1112 - 1139)

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  • 1186 a.a.
Protein Preferred Names Protein Names

pumilio homolog 1

pumilio-1

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 / 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