PUM1 - pumilio RNA binding family member 1 Gene
Also Known as PUMH; HSPUM; PUMH1; PUML1; SCA47
Species: Homo sapiens
About PUM1
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: Pumilio-family RNA binding repeat (849 - 882)
PUF: Pumilio-family RNA binding repeat (885 - 914)
PUF: Pumilio-family RNA binding repeat (921 - 951)
PUF: Pumilio-family RNA binding repeat (957 - 984)
PUF: Pumilio-family RNA binding repeat (993 - 1026)
PUF: Pumilio-family RNA binding repeat (1029 - 1061)
PUF: Pumilio-family RNA binding repeat (1064 - 1093)
PUF: Pumilio-family RNA binding repeat (1112 - 1139)
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- 200
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- 1186 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
pumilio homolog 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 |
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 |
|
|
| Pum1-Associated Developmental Disability-Ataxia-Seizure Syndrome |
|
|
| Cerebellar Ataxia Type 47 |
|
|
| Spastic Ataxia |
|
|
| Testis Seminoma |
|
|
| Spinocerebellar Ataxia 1 |
|
|
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 |