Human Gene GEMIN6 (uc002rrc.3) Description and Page Index
  Description: Homo sapiens gem (nuclear organelle) associated protein 6 (GEMIN6), mRNA.
RefSeq Summary (NM_024775): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BM782269.1, SRR1660803.10553.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000281950.8/ ENSP00000281950.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr2:39,005,258-39,009,106 Size: 3,849 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr2:39,006,133-39,009,034 Size: 2,902 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:39,005,258-39,009,106)mRNA (may differ from genome)Protein (167 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: GEMI6_HUMAN
DESCRIPTION: RecName: Full=Gem-associated protein 6; Short=Gemin-6; AltName: Full=SIP2;
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 GEMIN7, SNRPB, SNRPD2, SNRPD3 and SNRPE.
INTERACTION: P12520:vpr (xeno); NbExp=3; IntAct=EBI-752301, EBI-6164519;
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.
SEQUENCE CAUTION: Sequence=BAB15660.1; Type=Frameshift; Positions=142;

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.45 RPKM in Testis
Total median expression: 88.64 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 -64.60185-0.349 Picture PostScript Text
3' UTR -8.8072-0.122 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
IPR009422 - Gemin6

Pfam Domains:
PF06372 - Gemin6 protein

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1Y96
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q8WXD5
FrontTopSide
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 orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0000245 spliceosomal complex assembly
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
  BC029584 - Homo sapiens gem (nuclear organelle) associated protein 6, mRNA (cDNA clone IMAGE:5271349).
LF385221 - JP 2014500723-A/192724: Polycomb-Associated Non-Coding RNAs.
AK315627 - Homo sapiens cDNA, FLJ96711, highly similar to Homo sapiens gem (nuclear organelle) associated protein 6 (GEMIN6),mRNA.
AK027112 - Homo sapiens cDNA: FLJ23459 fis, clone HSI07588.
JD559386 - Sequence 540410 from Patent EP1572962.
BC018195 - Homo sapiens gem (nuclear organelle) associated protein 6, mRNA (cDNA clone MGC:9829 IMAGE:3863118), complete cds.
LF342227 - JP 2014500723-A/149730: Polycomb-Associated Non-Coding RNAs.
KJ899572 - Synthetic construct Homo sapiens clone ccsbBroadEn_08966 GEMIN6 gene, encodes complete protein.
AF453443 - Homo sapiens GEMIN6 mRNA, complete cds.
LF342228 - JP 2014500723-A/149731: Polycomb-Associated Non-Coding RNAs.
MA620798 - JP 2018138019-A/192724: Polycomb-Associated Non-Coding RNAs.
MA577804 - JP 2018138019-A/149730: Polycomb-Associated Non-Coding RNAs.
MA577805 - JP 2018138019-A/149731: Polycomb-Associated Non-Coding RNAs.

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

Protein Q8WXD5 (Reactome details) participates in the following event(s):

R-HSA-191790 Loading and methylation of Sm proteins onto SMN Complexes
R-HSA-191830 snRNP nuclear import and release
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: B2RDP8, GEMI6_HUMAN, NM_024775, NP_079051, Q53SI5, Q8WVB4, Q8WXD5, Q9H5G6
UCSC ID: uc002rrc.3
RefSeq Accession: NM_024775
Protein: Q8WXD5 (aka GEMI6_HUMAN or GEM6_HUMAN)
CCDS: CCDS1799.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_024775.9
exon count: 3CDS single in 3' UTR: no RNA size: 705
ORF size: 504CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1121.00frame shift in genome: no % Coverage: 98.16
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.