PUM1 - pumilio RNA binding family member 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9698

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

PUM1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PUM1 Q14671 YWHAE Homo sapiens P62258 36931259
Intra
PUM1 Q14671 WFS1 Homo sapiens O76024 32814053
Intra
PUM1 Q14671 WFS1 Homo sapiens O76024 32814053
Intra
PUM1 Q14671 WFS1 Homo sapiens O76024 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

PUM1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P82036 PUM1 Antibody (YA1781) WB, IHC-P, ICC/IF, FC Human, Mouse, Rat
HY-P82036A PUM1 Antibody (YA1781)(PBS only) WB, IHC-P, ICC/IF, FC Human, Mouse, Rat

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

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
Others PUM1 NCBI