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Aliases for GEMIN7 Gene

Aliases for GEMIN7 Gene

  • Gem (Nuclear Organelle) Associated Protein 7 2 3
  • Gemin-7 3 4
  • SIP3 3 4
  • Gem-Associated Protein 7 3
  • Gemin 7 3

External Ids for GEMIN7 Gene

Previous GeneCards Identifiers for GEMIN7 Gene

  • GC19P046227
  • GC19P045973
  • GC19P050258
  • GC19P050274
  • GC19P045582
  • GC19P042014

Summaries for GEMIN7 Gene

Entrez Gene Summary for GEMIN7 Gene

  • 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]

GeneCards Summary for GEMIN7 Gene

GEMIN7 (Gem (Nuclear Organelle) Associated Protein 7) is a Protein Coding gene. Among its related pathways are Gene Expression and RNA transport.

UniProtKB/Swiss-Prot for GEMIN7 Gene

  • The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus.

Gene Wiki entry for GEMIN7 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GEMIN7 Gene

Genomics for GEMIN7 Gene

Regulatory Elements for GEMIN7 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GEMIN7 Gene

Start:
45,075,814 bp from pter
End:
45,091,524 bp from pter
Size:
15,711 bases
Orientation:
Plus strand

Genomic View for GEMIN7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GEMIN7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GEMIN7 Gene

Proteins for GEMIN7 Gene

  • Protein details for GEMIN7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H840-GEMI7_HUMAN
    Recommended name:
    Gem-associated protein 7
    Protein Accession:
    Q9H840
    Secondary Accessions:
    • Q6IA34

    Protein attributes for GEMIN7 Gene

    Size:
    131 amino acids
    Molecular mass:
    14537 Da
    Quaternary structure:
    • Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG. Interacts directly with GEMIN6, SNRPB, SNRPD2, SNRPD3 and SNRPE.

    Three dimensional structures from OCA and Proteopedia for GEMIN7 Gene

neXtProt entry for GEMIN7 Gene

Proteomics data for GEMIN7 Gene at MOPED

Post-translational modifications for GEMIN7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GEMIN7 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for GEMIN7 Gene

Domains for GEMIN7 Gene

Protein Domains for GEMIN7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GEMIN7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H840

UniProtKB/Swiss-Prot:

GEMI7_HUMAN :
  • Q9H840
Family:
  • Belongs to the gemin-7 family.
genes like me logo Genes that share domains with GEMIN7: view

No data available for Gene Families for GEMIN7 Gene

Function for GEMIN7 Gene

Molecular function for GEMIN7 Gene

UniProtKB/Swiss-Prot Function: The SMN complex plays a catalyst role in the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Thereby, plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. Dissociation by the SMN complex of CLNS1A from the trapped Sm proteins and their transfer to an SMN-Sm complex triggers the assembly of core snRNPs and their transport to the nucleus.

Gene Ontology (GO) - Molecular Function for GEMIN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12065586
genes like me logo Genes that share ontologies with GEMIN7: view

Phenotypes for GEMIN7 Gene

GenomeRNAi human phenotypes for GEMIN7:
genes like me logo Genes that share phenotypes with GEMIN7: view

Animal Model Products

CRISPR Products

miRNA for GEMIN7 Gene

miRTarBase miRNAs that target GEMIN7

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for GEMIN7 Gene

Localization for GEMIN7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GEMIN7 Gene

Nucleus, nucleoplasm. Nucleus, gem. Cytoplasm. Note=Found both in the nucleoplasm and in nuclear bodies called gems (Gemini of Cajal bodies) that are often in proximity to Cajal (coiled) bodies. Also found in the cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GEMIN7 Gene COMPARTMENTS Subcellular localization image for GEMIN7 gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GEMIN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0016604 nuclear body IDA 12065586
genes like me logo Genes that share ontologies with GEMIN7: view

Pathways for GEMIN7 Gene

genes like me logo Genes that share pathways with GEMIN7: view

Pathways by source for GEMIN7 Gene

3 Reactome pathways for GEMIN7 Gene
1 KEGG pathway for GEMIN7 Gene

Gene Ontology (GO) - Biological Process for GEMIN7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000387 spliceosomal snRNP assembly TAS 12065586
GO:0000398 mRNA splicing, via spliceosome TAS 12065586
GO:0010467 gene expression TAS --
GO:0016070 RNA metabolic process --
GO:0034660 ncRNA metabolic process TAS --
genes like me logo Genes that share ontologies with GEMIN7: view

Transcripts for GEMIN7 Gene

Unigene Clusters for GEMIN7 Gene

Gem (nuclear organelle) associated protein 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GEMIN7

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GEMIN7 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b
SP1:
SP2: -

Relevant External Links for GEMIN7 Gene

GeneLoc Exon Structure for
GEMIN7
ECgene alternative splicing isoforms for
GEMIN7

Expression for GEMIN7 Gene

mRNA expression in normal human tissues for GEMIN7 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GEMIN7 Gene

SOURCE GeneReport for Unigene cluster for GEMIN7 Gene Hs.466919

genes like me logo Genes that share expressions with GEMIN7: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GEMIN7 Gene

Orthologs for GEMIN7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GEMIN7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GEMIN7 35
  • 99.24 (n)
  • 99.24 (a)
GEMIN7 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GEMIN7 35
  • 81.07 (n)
  • 82.4 (a)
GEMIN7 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GEMIN7 35
  • 87.02 (n)
  • 86.26 (a)
GEMIN7 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gemin7 35
  • 81.45 (n)
  • 87.9 (a)
Gemin7 16
Gemin7 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GEMIN7 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GEMIN7 36
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii GEMIN7 36
  • 49 (a)
OneToOne
LOC798703 35
  • 55.11 (n)
  • 50 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToOne
Species with no ortholog for GEMIN7:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GEMIN7 Gene

ENSEMBL:
Gene Tree for GEMIN7 (if available)
TreeFam:
Gene Tree for GEMIN7 (if available)

Paralogs for GEMIN7 Gene

Pseudogenes.org Pseudogenes for GEMIN7 Gene

genes like me logo Genes that share paralogs with GEMIN7: view

No data available for Paralogs for GEMIN7 Gene

Variants for GEMIN7 Gene

Sequence variations from dbSNP and Humsavar for GEMIN7 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs1469704 -- 45,086,337(+) GGTAC(C/T)CAACA intron-variant
rs2060250 -- 45,087,730(-) ccctc(C/T)tctgc intron-variant
rs3178166 -- 45,090,912(+) ACCCC(A/G)GGAAA utr-variant-3-prime
rs4260167 -- 45,083,782(+) tttct(A/G)gagac intron-variant
rs4574033 -- 45,083,789(+) agacg(A/G)gattt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GEMIN7 Gene

Variant ID Type Subtype PubMed ID
nsv912142 CNV Loss 21882294
esv27359 CNV Loss 19812545
esv2660249 CNV Deletion 23128226
nsv833842 CNV Loss 17160897
nsv833843 CNV Loss 17160897
nsv828563 CNV Gain 20364138

Relevant External Links for GEMIN7 Gene

HapMap Linkage Disequilibrium report
GEMIN7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GEMIN7 Gene

Disorders for GEMIN7 Gene

(1) University of Copenhagen DISEASES for GEMIN7 Gene

genes like me logo Genes that share disorders with GEMIN7: view

No data available for UniProtKB/Swiss-Prot for GEMIN7 Gene

Publications for GEMIN7 Gene

  1. Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex. (PMID: 12065586) Baccon J. … Dreyfuss G. (J. Biol. Chem. 2002) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Gemin8 is required for the architecture and function of the survival motor neuron complex. (PMID: 17023415) Carissimi C. … Pellizzoni L. (J. Biol. Chem. 2006) 3 23
  4. An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs. (PMID: 18984161) Chari A. … Fischer U. (Cell 2008) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for GEMIN7 Gene

Sources for GEMIN7 Gene

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