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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12065586	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in spliceosomal snRNP assembly	EXP EXP: Inferred from Experiment	12067652	GOA
involved in spliceosomal snRNP assembly	IDA IDA: Inferred from direct assay	18984161	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Gemini of coiled bodies	IDA IDA: Inferred from direct assay	20513430	GOA
part of SMN complex	IDA IDA: Inferred from direct assay	17178713	GOA
part of SMN complex	IPI IPI: Inferred from physical interaction	17178713	GOA
part of SMN-Sm protein complex	IDA IDA: Inferred from direct assay	18984161	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	12065586	GOA
located in cytosol	IDA IDA: Inferred from direct assay	18984161	GOA
located in nuclear body	IDA IDA: Inferred from direct assay	12065586	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	12065586	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GEMIN7 Protein Structure

Gemin7

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05370	GEMIN7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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