Gene

GEMIN5

Species
Homo sapiens
Symbol
GEMIN5
Name
gem nuclear organelle associated protein 5
Synonyms
  • DKFZp586M1824
  • gem (nuclear organelle) associated protein 5
Biotype
protein coding gene
Automated Description
Enables RNA binding activity and ribosome binding activity. Involved in regulation of translation and spliceosomal snRNP assembly. Located in cytosol and nuclear body. Part of SMN complex and SMN-Gemin2 complex. Implicated in neurodevelopmental disorder with cerebellar atrophy and motor dysfunction.
RGD Description
This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR46362
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
154.890M154.895M154.900M154.905M154.910M154.915M154.920M154.925M154.930M154.935M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions