Human Gene GEMIN4 (ENST00000319004.6) from GENCODE V44
  Description: Homo sapiens gem nuclear organelle associated protein 4 (GEMIN4), mRNA. (from RefSeq NM_015721)
RefSeq Summary (NM_015721): The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000319004.6
Gencode Gene: ENSG00000179409.11
Transcript (Including UTRs)
   Position: hg38 chr17:744,421-752,264 Size: 7,844 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg38 chr17:744,866-752,142 Size: 7,277 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:744,421-752,264)mRNA (may differ from genome)Protein (1058 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GEMI4_HUMAN
DESCRIPTION: RecName: Full=Gem-associated protein 4; Short=Gemin-4; AltName: Full=Component of gems 4; AltName: Full=p97;
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 GEMIN3 and with several snRNP SM core proteins, including SNRPB, SNRPD1, SNRPD2, SNRPD3 and SNRPE. Interacts with PPP4R2.
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Nucleus, nucleolus. Nucleus, gem. Note=Localized in subnuclear structures next to coiled bodies, called gems, which are highly enriched in spliceosomal snRNPs and in the nucleolus.

-  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           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 35.65 RPKM in Testis
Total median expression: 284.51 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -60.60122-0.497 Picture PostScript Text
3' UTR -129.80445-0.292 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
  ModBase Predicted Comparative 3D Structure on P57678
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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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

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

Biological Process:
GO:0000387 spliceosomal snRNP assembly
GO:0006364 rRNA processing
GO:0006397 mRNA processing
GO:0008380 RNA splicing
GO:0051170 nuclear import

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0016604 nuclear body
GO:0030532 small nuclear ribonucleoprotein complex
GO:0032797 SMN complex
GO:0034719 SMN-Sm protein complex
GO:0070062 extracellular exosome
GO:0097504 Gemini of coiled bodies


-  Descriptions from all associated GenBank mRNAs
  BC036024 - Homo sapiens gem (nuclear organelle) associated protein 4, mRNA (cDNA clone IMAGE:5272653).
AL080150 - Homo sapiens mRNA; cDNA DKFZp434D174 (from clone DKFZp434D174).
AF173856 - Homo sapiens Gemin4 mRNA, complete cds.
BC032084 - Homo sapiens gem (nuclear organelle) associated protein 4, mRNA (cDNA clone IMAGE:4938956).
AL080167 - Homo sapiens mRNA; cDNA DKFZp434B131 (from clone DKFZp434B131).
BC020062 - Homo sapiens gem (nuclear organelle) associated protein 4, mRNA (cDNA clone MGC:16993 IMAGE:4340940), complete cds.
AF177341 - Homo sapiens clone HC56 unknown mRNA.
JD528381 - Sequence 509405 from Patent EP1572962.
JD542204 - Sequence 523228 from Patent EP1572962.
EU832469 - Synthetic construct Homo sapiens clone HAIB:100067498; DKFZo008C0729 gem (nuclear organelle) associated protein 4 protein (GEMIN4) gene, encodes complete protein.
AB463052 - Synthetic construct DNA, clone: pF1KB2389, Homo sapiens GEMIN4 gene for gem (nuclear organelle) associated protein 4, without stop codon, in Flexi system.
DQ584930 - Homo sapiens piRNA piR-52042, complete sequence.
AK302722 - Homo sapiens cDNA FLJ59271 complete cds, highly similar to Component of gems 4.
DQ582433 - Homo sapiens piRNA piR-32545, complete sequence.
DQ571403 - Homo sapiens piRNA piR-31515, complete sequence.
DQ586517 - Homo sapiens piRNA piR-53629, complete sequence.
DQ575729 - Homo sapiens piRNA piR-43841, complete sequence.

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

Protein P57678 (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: ENST00000319004.1, ENST00000319004.2, ENST00000319004.3, ENST00000319004.4, ENST00000319004.5, GEMI4_HUMAN, NM_015721, P57678, Q9NZS7, Q9UG32, Q9Y4Q2, uc002frs.1, uc002frs.2, uc002frs.3
UCSC ID: ENST00000319004.6
RefSeq Accession: NM_015721
Protein: P57678 (aka GEMI4_HUMAN)
CCDS: CCDS45559.1

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