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] See more...

Aliases for GEMIN7 Gene

Aliases for GEMIN7 Gene

  • Gem Nuclear Organelle Associated Protein 7 2 3 5
  • Gem-Associated Protein 7 3 4
  • Gemin-7 3 4
  • SIP3 3 4
  • Gem (Nuclear Organelle) Associated Protein 7 2

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 RNA transport and Gene Expression.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for GEMIN7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GEMIN7 Gene

Genomics for GEMIN7 Gene

GeneHancer (GH) Regulatory Elements for GEMIN7 Gene

Promoters and enhancers for GEMIN7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GEMIN7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GEMIN7 gene promoter:
  • AhR
  • Arnt
  • FAC1
  • HNF-4alpha1
  • MZF-1

Genomic Locations for GEMIN7 Gene

Genomic Locations for GEMIN7 Gene
chr19:45,075,739-45,091,524
(GRCh38/hg38)
Size:
15,786 bases
Orientation:
Plus strand
chr19:45,582,453-45,594,782
(GRCh37/hg19)
Size:
12,330 bases
Orientation:
Plus strand

Genomic View for GEMIN7 Gene

Genes around GEMIN7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GEMIN7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for GEMIN7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GEMIN7 Gene

Domains & Families for GEMIN7 Gene

Gene Families for GEMIN7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GEMIN7 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GEMIN7 Gene

GenScript: Design optimal peptide antigens:
  • SIP3 (GEMI7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H840

UniProtKB/Swiss-Prot:

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

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.

Phenotypes From GWAS Catalog for GEMIN7 Gene

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
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GEMIN7 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (3)
See all subcellular structures

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,IEA 12065586
GO:0005829 cytosol TAS --
GO:0016604 nuclear body IDA 12065586
genes like me logo Genes that share ontologies with GEMIN7: view

Pathways & Interactions 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:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
GO:0051170 import into nucleus TAS --
genes like me logo Genes that share ontologies with GEMIN7: view

No data available for SIGNOR curated interactions for GEMIN7 Gene

Drugs & Compounds for GEMIN7 Gene

No Compound Related Data Available

Transcripts for GEMIN7 Gene

CRISPR Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for GEMIN7 Gene

Protein differential expression in normal tissues from HIPED for GEMIN7 Gene

This gene is overexpressed in Bone (40.1) and Lung (21.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GEMIN7 Gene



NURSA nuclear receptor signaling pathways regulating expression of GEMIN7 Gene:

GEMIN7

SOURCE GeneReport for Unigene cluster for GEMIN7 Gene:

Hs.466919
genes like me logo Genes that share expression patterns with GEMIN7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 32
  • 99.24 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GEMIN7 33 32
  • 87.02 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gemin7 17 33 32
  • 81.45 (n)
cow
(Bos Taurus)
Mammalia GEMIN7 33 32
  • 81.07 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GEMIN7 33
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GEMIN7 33
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC798703 32
  • 55.11 (n)
GEMIN7 33
  • 49 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 36 (a)
OneToOne
Species where no ortholog for GEMIN7 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GEMIN7: view image

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 Variation AA Info Type
rs1000032922 -- 45,073,654(+) G/A upstream_transcript_variant
rs1000132736 -- 45,079,173(+) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000141476 -- 45,077,508(+) G/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000363910 -- 45,083,598(+) T/C intron_variant
rs1000545230 -- 45,083,060(+) T/G intron_variant

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

Variant ID Type Subtype PubMed ID
esv2660249 CNV deletion 23128226
esv27359 CNV loss 19812545
esv3644497 CNV loss 21293372
nsv828563 CNV gain 20364138
nsv833842 CNV loss 17160897
nsv833843 CNV loss 17160897
nsv953587 CNV deletion 24416366

Variation tolerance for GEMIN7 Gene

Residual Variation Intolerance Score: 65.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.43; 9.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GEMIN7 Gene

Human Gene Mutation Database (HGMD)
GEMIN7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GEMIN7

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

Disorders for GEMIN7 Gene

Additional Disease Information for GEMIN7

No disorders were found for GEMIN7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 (The Journal of biological chemistry 2002) 2 3 4 56
  2. An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs. (PMID: 18984161) Chari A … Fischer U (Cell 2008) 3 4 56
  3. Gemin8 is required for the architecture and function of the survival motor neuron complex. (PMID: 17023415) Carissimi C … Pellizzoni L (The Journal of biological chemistry 2006) 3 23 56
  4. The Gemin6-Gemin7 heterodimer from the survival of motor neurons complex has an Sm protein-like structure. (PMID: 15939020) Ma Y … Van Duyne GD (Structure (London, England : 1993) 2005) 3 4 56
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56

Products for GEMIN7 Gene

Sources for GEMIN7 Gene