Gem-associated protein 7

Protein-coding gene in the species Homo sapiens
GEMIN7
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

1Y96

Identifiers
AliasesGEMIN7, SIP3, gem nuclear organelle associated protein 7
External IDsOMIM: 607419; MGI: 1916981; HomoloGene: 11668; GeneCards: GEMIN7; OMA:GEMIN7 - orthologs
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for GEMIN7
Genomic location for GEMIN7
Band19q13.32Start45,079,195 bp[1]
End45,091,518 bp[1]
Gene location (Mouse)
Chromosome 7 (mouse)
Chr.Chromosome 7 (mouse)[2]
Chromosome 7 (mouse)
Genomic location for GEMIN7
Genomic location for GEMIN7
Band7|7 A3Start19,298,871 bp[2]
End19,311,520 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • mucosa of transverse colon

  • granulocyte

  • mucosa of ileum

  • tibialis anterior muscle

  • monocyte

  • gastrocnemius muscle

  • muscle of thigh

  • spleen

  • testicle

  • right lobe of liver
Top expressed in
  • interventricular septum

  • right kidney

  • granulocyte

  • muscle of thigh

  • embryo

  • embryo

  • yolk sac

  • lip

  • neural tube

  • ventricular zone
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • protein binding
Cellular component
  • cytoplasm
  • cytosol
  • nuclear body
  • nucleus
  • nucleoplasm
  • SMN complex
  • SMN-Sm protein complex
  • gemini of coiled bodies
Biological process
  • mRNA splicing, via spliceosome
  • mRNA processing
  • RNA splicing
  • spliceosomal snRNP assembly
  • import into nucleus
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

79760

69731

Ensembl

ENSG00000142252

ENSMUSG00000044709

UniProt

Q9H840

Q9CWY4

RefSeq (mRNA)

NM_001007269
NM_001007270
NM_024707
NM_001319054
NM_001319055

NM_027189

RefSeq (protein)

NP_001007270
NP_001007271
NP_001305983
NP_001305984
NP_078983

NP_081465

Location (UCSC)Chr 19: 45.08 – 45.09 MbChr 7: 19.3 – 19.31 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Gem-associated protein 7 is a protein that in humans is encoded by the GEMIN7 gene.[5][6] The gem-associated proteins are those found in the gems of Cajal bodies.

Function

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.[6]

Interactions

Gem-associated protein 7 has been shown to interact with SMN1[5][7] and Gem-associated protein 6.[5][8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000142252 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000044709 – Ensembl, 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. ^ a b c 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): 31957–31962. doi:10.1074/jbc.M203478200. PMID 12065586.
  6. ^ a b "Entrez Gene: GEMIN7 gem (nuclear organelle) associated protein 7".
  7. ^ 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): 7540–7545. doi:10.1074/jbc.M110141200. PMID 11748230.
  8. ^ 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): 1173–1178. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

Further reading

  • Carissimi C, Saieva L, Gabanella F, Pellizzoni L (Dec 2006). "Gemin8 is required for the architecture and function of the survival motor neuron complex". The Journal of Biological Chemistry. 281 (48): 37009–37016. doi:10.1074/jbc.M607505200. PMID 17023415.
  • Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, Stroedicke M, Zenkner M, Schoenherr A, Koeppen S, Timm J, Mintzlaff S, Abraham C, Bock N, Kietzmann S, Goedde A, Toksöz E, Droege A, Krobitsch S, Korn B, Birchmeier W, Lehrach H, Wanker EE (Sep 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–968. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.
  • Grimmler M, Otter S, Peter C, Müller F, Chari A, Fischer U (Oct 2005). "Unrip, a factor implicated in cap-independent translation, associates with the cytosolic SMN complex and influences its intracellular localization". Human Molecular Genetics. 14 (20): 3099–3111. doi:10.1093/hmg/ddi343. PMID 16159890.

External links

  • PDBe-KB provides an overview of all the structure information available in the PDB for Human Gem-associated protein 7
  • v
  • t
  • e
  • 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


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