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Aliases for GEMIN6 Gene

Aliases for GEMIN6 Gene

  • Gem (Nuclear Organelle) Associated Protein 6 2 3
  • Gemin-6 3 4
  • SIP2 3 4
  • Gem-Associated Protein 6 3
  • Gemin 6 3

External Ids for GEMIN6 Gene

Previous GeneCards Identifiers for GEMIN6 Gene

  • GC02P038970
  • GC02P039152
  • GC02P038936
  • GC02P038979
  • GC02P038916
  • GC02P038832
  • GC02P038859
  • GC02P038744

Summaries for GEMIN6 Gene

Entrez Gene Summary for GEMIN6 Gene

  • GEMIN6 is part of a large macromolecular complex, 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).[supplied by OMIM, Jul 2002]

GeneCards Summary for GEMIN6 Gene

GEMIN6 (Gem (Nuclear Organelle) Associated Protein 6) is a Protein Coding gene. Among its related pathways are Gene Expression and RNA transport.

UniProtKB/Swiss-Prot for GEMIN6 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 GEMIN6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GEMIN6 Gene

Genomics for GEMIN6 Gene

Regulatory Elements for GEMIN6 Gene

Genomic Location for GEMIN6 Gene

Start:
38,751,534 bp from pter
End:
38,785,000 bp from pter
Size:
33,467 bases
Orientation:
Plus strand

Genomic View for GEMIN6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GEMIN6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GEMIN6 Gene

Proteins for GEMIN6 Gene

  • Protein details for GEMIN6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WXD5-GEMI6_HUMAN
    Recommended name:
    Gem-associated protein 6
    Protein Accession:
    Q8WXD5
    Secondary Accessions:
    • B2RDP8
    • Q53SI5
    • Q8WVB4
    • Q9H5G6

    Protein attributes for GEMIN6 Gene

    Size:
    167 amino acids
    Molecular mass:
    18824 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 GEMIN7, SNRPB, SNRPD2, SNRPD3 and SNRPE.
    SequenceCaution:
    • Sequence=BAB15660.1; Type=Frameshift; Positions=142; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GEMIN6 Gene

neXtProt entry for GEMIN6 Gene

Proteomics data for GEMIN6 Gene at MOPED

Post-translational modifications for GEMIN6 Gene

  • Ubiquitination at Lys108 and Lys112
  • Modification sites at PhosphoSitePlus

Other Protein References for GEMIN6 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for GEMIN6 Gene

Domains for GEMIN6 Gene

Protein Domains for GEMIN6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GEMIN6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with GEMIN6: view

No data available for Gene Families and UniProtKB/Swiss-Prot for GEMIN6 Gene

Function for GEMIN6 Gene

Molecular function for GEMIN6 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 GEMIN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11748230
genes like me logo Genes that share ontologies with GEMIN6: view

Phenotypes for GEMIN6 Gene

GenomeRNAi human phenotypes for GEMIN6:
genes like me logo Genes that share phenotypes with GEMIN6: view

Animal Model Products

CRISPR Products

miRNA for GEMIN6 Gene

miRTarBase miRNAs that target GEMIN6

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GEMIN6

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for GEMIN6 Gene

Localization for GEMIN6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GEMIN6 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 GEMIN6 Gene COMPARTMENTS Subcellular localization image for GEMIN6 gene
Compartment Confidence
nucleus 5
cytosol 4
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GEMIN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA 11748230
GO:0005829 cytosol TAS --
GO:0016604 nuclear body IDA 11748230
genes like me logo Genes that share ontologies with GEMIN6: view

Pathways for GEMIN6 Gene

genes like me logo Genes that share pathways with GEMIN6: view

Pathways by source for GEMIN6 Gene

3 Reactome pathways for GEMIN6 Gene
1 KEGG pathway for GEMIN6 Gene

Gene Ontology (GO) - Biological Process for GEMIN6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000245 spliceosomal complex assembly IEA --
GO:0000387 spliceosomal snRNP assembly TAS 11748230
GO:0000398 mRNA splicing, via spliceosome TAS 11748230
GO:0010467 gene expression TAS --
GO:0016070 RNA metabolic process --
genes like me logo Genes that share ontologies with GEMIN6: view

Transcripts for GEMIN6 Gene

Unigene Clusters for GEMIN6 Gene

Gem (nuclear organelle) associated protein 6:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GEMIN6

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for GEMIN6

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GEMIN6 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c
SP1: -
SP2:
SP3: - -

Relevant External Links for GEMIN6 Gene

GeneLoc Exon Structure for
GEMIN6
ECgene alternative splicing isoforms for
GEMIN6

Expression for GEMIN6 Gene

mRNA expression in normal human tissues for GEMIN6 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GEMIN6 Gene

SOURCE GeneReport for Unigene cluster for GEMIN6 Gene Hs.143818

genes like me logo Genes that share expressions with GEMIN6: 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 GEMIN6 Gene

Orthologs for GEMIN6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GEMIN6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GEMIN6 35
  • 99.6 (n)
  • 100 (a)
GEMIN6 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GEMIN6 35
  • 92.37 (n)
  • 89.76 (a)
GEMIN6 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GEMIN6 35
  • 91.57 (n)
  • 92.17 (a)
GEMIN6 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gemin6 35
  • 86.75 (n)
  • 86.14 (a)
Gemin6 16
Gemin6 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GEMIN6 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GEMIN6 36
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gemin6 35
  • 87.35 (n)
  • 83.13 (a)
chicken
(Gallus gallus)
Aves GEMIN6 35
  • 63.67 (n)
  • 59.88 (a)
GEMIN6 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GEMIN6 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gemin6 35
  • 63.39 (n)
  • 60.12 (a)
zebrafish
(Danio rerio)
Actinopterygii GEMIN6 36
  • 37 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToOne
Species with no ortholog for GEMIN6:
  • 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GEMIN6 Gene

ENSEMBL:
Gene Tree for GEMIN6 (if available)
TreeFam:
Gene Tree for GEMIN6 (if available)

Paralogs for GEMIN6 Gene

genes like me logo Genes that share paralogs with GEMIN6: view

No data available for Paralogs for GEMIN6 Gene

Variants for GEMIN6 Gene

Sequence variations from dbSNP and Humsavar for GEMIN6 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs1056104 - 38,781,807(+) ATATG(A/G)TCCAG missense, reference
rs1562855 -- 38,781,326(+) TTTAA(C/T)TGTAT intron-variant
rs3099952 -- 38,777,073(+) tttgc(A/T)ctcca upstream-variant-2KB
rs3099960 -- 38,780,767(+) gggat(C/T)ataga intron-variant
rs3112201 -- 38,779,461(+) cctga(G/T)ctcca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GEMIN6 Gene

Variant ID Type Subtype PubMed ID
nsv9646 CNV Loss 18304495

Relevant External Links for GEMIN6 Gene

HapMap Linkage Disequilibrium report
GEMIN6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GEMIN6 Gene

Disorders for GEMIN6 Gene

(1) University of Copenhagen DISEASES for GEMIN6 Gene

genes like me logo Genes that share disorders with GEMIN6: view

No data available for UniProtKB/Swiss-Prot for GEMIN6 Gene

Publications for GEMIN6 Gene

  1. Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component. (PMID: 11748230) Pellizzoni L. … Dreyfuss G. (J. Biol. Chem. 2002) 2 3 4
  2. 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) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. 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
  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 GEMIN6 Gene

Sources for GEMIN6 Gene

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