GEMIN8 - gem nuclear organelle associated protein 8 Gene

Also Known as FAM51A1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54960

About GEMIN8

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:13,984,185-14,029,892 (from NCBI)

This gene has 6 transcripts (splice variants) and 207 orthologues. Ubiquitous expression in ovary (RPKM 3.3), thyroid (RPKM 3.3) and 25 other tissues.

Summary

The protein encoded by this gene is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein binds to both SMN1 and the GEMIN6/GEMIN7 heterodimer, mediating their interaction. This protein is found in nuclear Gemini of Cajal bodies (gems) and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

GEMIN8 Products (3)

mRNA Protein Name
NM_001042479.2 NP_001035944.1 gem-associated protein 8
NM_001042480.2 NP_001035945.1 gem-associated protein 8
NM_017856.3 NP_060326.1 gem-associated protein 8

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
17023415 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in spliceosomal snRNP assembly EXP
EXP: Inferred from Experiment
12067652 GOA
involved in spliceosomal snRNP assembly IDA
IDA: Inferred from direct assay
16434402 GOA
Cellular Component GO Annotation Evidence Verweise Source
part of SMN complex IDA
IDA: Inferred from direct assay
16434402 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
17023415 GOA
located in cytosol IDA
IDA: Inferred from direct assay
18984161 GOA
located in nucleus IDA
IDA: Inferred from direct assay
16434402 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

GEMIN8 Protein Structure

GEMIN8

GEMIN8: Gemini of Cajal bodies-associated protein 8 (14 - 242)

  • 0
  • 100
  • 200
  • 242 a.a.
Protein Preferred Names Protein Names

gem-associated protein 8

  • family with sequence similarity 51, member A1

Related Diseases

Diseases Alias
Spinal Muscular Atrophy

  • Sma

  • 5q Sma

  • Proximal Sma

  • Sma-Associated Sma

  • Spinal Amyotrophies

  • Spinal Amyotrophy

  • Spinal Muscle Degeneration

  • Spinal Muscle Wasting

  • Muscular Atrophy Spinal

  • Atrophy, Muscular, Spinal

  • Hereditary Motor Neuronopathy

  • Progressive Muscular Atrophy

  • Sma - [Spinal Muscular Atrophy]
Duodenal Obstruction
Muscular Atrophy

  • Muscle Wasting

  • Amyotrophia

  • Wasting - Muscle

  • Skeletal Muscle Atrophy
Spinal Muscular Atrophy, Type Iii

  • SMA3

  • Juvenile Spinal Muscular Atrophy

  • Kugelberg-Welander Disease

  • Sma Iii

  • Kugelberg-Welander Syndrome

  • Kws

  • Muscular Atrophy, Juvenile

  • Spinal Muscular Atrophy, Mild Childhood And Adolescent Form

  • Spinal Muscular Atrophy-3

  • Spinal Muscular Atrophy Type 3

  • Spinal Muscular Atrophy, Type Iii, Modifier Of

  • Type Iii Spinal Muscular Atrophy

  • Sma 3

  • Proximal Spinal Muscular Atrophy Type 3

  • Sma Type 3

  • Sma Type Iii

  • Sma-Iii

  • Spinal Muscular Atrophy 3

  • Spinal Muscular Atrophy Mild Childhood And Adolescent Form

  • Spinal Muscular Atrophy Type Iii

  • Wohlfart-Kugelberg-Welander Disease

  • Atrophy, Muscular, Spinal, Type Iii
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

Pre-clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS05371 GEMIN8 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus GEMIN8 VGNC VGNC:62517
Rattus norvegicus GEMIN8 RGD RGD:1359160
Canis familiaris GEMIN8 VGNC VGNC:41178
Bos taurus GEMIN8 VGNC VGNC:29321
Mus musculus GEMIN8 MGD MGI:2384300
Macaca mulatta GEMIN8 VGNC VGNC:103819
Others GEMIN8 NCBI