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Gem-associated protein 6

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Protein-coding gene in the species Homo sapiens
GEMIN6
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

1Y96

Identifiers
AliasesGEMIN6, gem nuclear organelle associated protein 6
External IDsOMIM: 607006; MGI: 1914492; HomoloGene: 11711; GeneCards: GEMIN6; OMA:GEMIN6 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)
Chromosome 2 (human)Genomic location for GEMIN6Genomic location for GEMIN6
Band2p22.1Start38,751,534 bp
End38,785,002 bp
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)
Chromosome 17 (mouse)Genomic location for GEMIN6Genomic location for GEMIN6
Band17|17 E3Start80,531,870 bp
End80,535,926 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • tendon of biceps brachii

  • right testis

  • left testis

  • islet of Langerhans

  • oocyte

  • mucosa of transverse colon

  • right adrenal gland

  • bronchial epithelial cell

  • right adrenal cortex

  • right lobe of liver
Top expressed in
  • epiblast

  • embryo

  • blastocyst

  • morula

  • primary oocyte

  • embryo

  • yolk sac

  • proximal tubule

  • placenta

  • ventricular zone
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

79833

67242

Ensembl

ENSG00000152147

ENSMUSG00000055760

UniProt

Q8WXD5

Q9CX53

RefSeq (mRNA)

NM_024775

NM_026053
NM_001355458

RefSeq (protein)

NP_079051

NP_080329
NP_001342387

Location (UCSC)Chr 2: 38.75 – 38.79 MbChr 17: 80.53 – 80.54 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Gem-associated protein 6 is a protein that in humans is encoded by the GEMIN6 gene. The gem-associated proteins are those found in the gems of Cajal bodies.

Function

GEMIN6 is part of a large macromolecular complex, the SMN localized to both the cytoplasm and the nucleus, that plays a role in the cytoplasmic assembly of small nuclear ribonucleoproteins (snRNPs). Other members of this complex include SMN (MIM 600354), GEMIN2 (SIP1; MIM 602595), GEMIN3 (DDX20; MIM 606168), GEMIN4 (MIM 606969), and GEMIN5 (MIM 607005).

Interactions

Gem-associated protein 6 has been shown to interact with gem-associated protein 7.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000152147Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000055760Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Pellizzoni L, Baccon J, Rappsilber J, Mann M, Dreyfuss G (Mar 2002). "Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component". The Journal of Biological Chemistry. 277 (9): 7540–5. doi:10.1074/jbc.M110141200. PMID 11748230.
  6. ^ "Entrez Gene: GEMIN6 gem (nuclear organelle) associated protein 6".
  7. Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
  8. Baccon J, Pellizzoni L, Rappsilber J, Mann M, Dreyfuss G (Aug 2002). "Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex". The Journal of Biological Chemistry. 277 (35): 31957–62. doi:10.1074/jbc.M203478200. PMID 12065586.

Further reading

PDB gallery
  • 1y96: crystal structure of the Gemin6/Gemin7 heterodimer from the human SMN complex 1y96: crystal structure of the Gemin6/Gemin7 heterodimer from the human SMN complex
Structures of the cell nucleus / nuclear protein
Envelope (membrane)/
nuclear lamina
Nucleolus
Other
SMC protein:
Transition nuclear protein:
see also nucleus diseases
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