Human Gene GEMIN7 (ENST00000270257.9_4) from GENCODE V47lift37
  Description: gem nuclear organelle associated protein 7, transcript variant 1 (from RefSeq NM_024707.3)
Gencode Transcript: ENST00000270257.9_4
Gencode Gene: ENSG00000142252.11_8
Transcript (Including UTRs)
   Position: hg19 chr19:45,582,518-45,594,776 Size: 12,259 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr19:45,593,373-45,593,768 Size: 396 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:45,582,518-45,594,776)mRNA (may differ from genome)Protein (131 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MGIOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GEMI7_HUMAN
DESCRIPTION: RecName: Full=Gem-associated protein 7; Short=Gemin-7; AltName: Full=SIP3;
FUNCTION: The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus.
SUBUNIT: Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Interacts directly with GEMIN6, SNRPB, SNRPD2, SNRPD3 and SNRPE.
SUBCELLULAR LOCATION: 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.
SIMILARITY: Belongs to the gemin-7 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.08 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 72.36 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -95.20249-0.382 Picture PostScript Text
3' UTR -348.001008-0.345 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR020338 - SMN_gemin7

Pfam Domains:
PF11095 - Gem-associated protein 7 (Gemin7)
PF12901 - SUZ-C motif

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1Y96 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9H840
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0000387 spliceosomal snRNP assembly
GO:0000398 mRNA splicing, via spliceosome
GO:0006397 mRNA processing
GO:0008380 RNA splicing
GO:0051170 nuclear import

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016604 nuclear body
GO:0032797 SMN complex
GO:0034719 SMN-Sm protein complex
GO:0097504 Gemini of coiled bodies


-  Descriptions from all associated GenBank mRNAs
  AK024018 - Homo sapiens cDNA FLJ13956 fis, clone Y79AA1001185.
BC007793 - Homo sapiens gem (nuclear organelle) associated protein 7, mRNA (cDNA clone MGC:14121 IMAGE:4053402), complete cds.
JD525483 - Sequence 506507 from Patent EP1572962.
JD392560 - Sequence 373584 from Patent EP1572962.
JD095583 - Sequence 76607 from Patent EP1572962.
JD288828 - Sequence 269852 from Patent EP1572962.
KJ894726 - Synthetic construct Homo sapiens clone ccsbBroadEn_04120 GEMIN7 gene, encodes complete protein.
AY114106 - Homo sapiens gemin 7 mRNA, complete cds.
CR457321 - Homo sapiens full open reading frame cDNA clone RZPDo834H099D for gene GEMIN7, gem (nuclear organelle) associated protein 7; complete cds, incl. stopcodon.
JD533338 - Sequence 514362 from Patent EP1572962.
JD500292 - Sequence 481316 from Patent EP1572962.
JD490549 - Sequence 471573 from Patent EP1572962.
JD411626 - Sequence 392650 from Patent EP1572962.
JD318434 - Sequence 299458 from Patent EP1572962.
JD244340 - Sequence 225364 from Patent EP1572962.
JD231078 - Sequence 212102 from Patent EP1572962.
JD419836 - Sequence 400860 from Patent EP1572962.
JD471023 - Sequence 452047 from Patent EP1572962.
JD254335 - Sequence 235359 from Patent EP1572962.
JD497382 - Sequence 478406 from Patent EP1572962.
JD058654 - Sequence 39678 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9H840 (Reactome details) participates in the following event(s):

R-HSA-191830 snRNP nuclear import and release
R-HSA-191790 Loading and methylation of Sm proteins onto SMN Complexes
R-HSA-191786 snRNP complex assembly
R-HSA-191763 snRNP:Snurportin complex formation
R-HSA-191784 snRNA Cap hypermethylation
R-HSA-191859 snRNP Assembly
R-HSA-194441 Metabolism of non-coding RNA
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000270257.1, ENST00000270257.2, ENST00000270257.3, ENST00000270257.4, ENST00000270257.5, ENST00000270257.6, ENST00000270257.7, ENST00000270257.8, GEMI7_HUMAN, NM_024707, Q6IA34, Q9H840, uc317itq.1, uc317itq.2
UCSC ID: ENST00000270257.9_4
RefSeq Accession: NM_024707.3
Protein: Q9H840 (aka GEMI7_HUMAN or GEM7_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.