1. Gene
  2. GEMIN7 - gem nuclear organelle associated protein 7 Gene

GEMIN7 - gem nuclear organelle associated protein 7 Gene

Homo sapiens

Also known as SIP3

Gene ID: 79760 | Gene type: protein coding

About GEMIN7

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:45,075,627-45,091,518 (from NCBI)

This gene has 5 transcripts (splice variants) and 178 orthologues. Ubiquitous expression in lymph node (RPKM 4.5), spleen (RPKM 4.2) and 25 other tissues.

Summary

The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear "gems" (Gemini of Cajal bodies), and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

GEMIN7 Products(5)

mRNA Protein Name
NM_001007269.2 NP_001007270.1 gem-associated protein 7
NM_001007270.2 NP_001007271.1 gem-associated protein 7
NM_001319054.1 NP_001305983.1 gem-associated protein 7
NM_001319055.2 NP_001305984.1 gem-associated protein 7
NM_024707.3 NP_078983.1 gem-associated protein 7

GEMIN7 Protein Structure

Gemin7

Gemin7: Gem-associated protein 7 (Gemin7) (52 - 130)

  • 0
  • 100
  • 131 a.a.
Protein Preferred Names Protein Names

gem-associated protein 7

gemin-7

Related Diseases

Diseases Alias
Cerebellar Ataxia Type 9

Sca9

Childhood Spinal Muscular Atrophy

Spinal Muscular Atrophies Of Childhood

Survival Motor Neuron Spinal Muscular Atrophy

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
Bos taurus GEMIN7 VGNC VGNC:29320
Canis familiaris GEMIN7 VGNC VGNC:41177
Mus musculus GEMIN7 MGD MGI:1916981
Rattus norvegicus GEMIN7 RGD RGD:1597035