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Aliases for GEMIN5 Gene

Aliases for GEMIN5 Gene

  • Gem Nuclear Organelle Associated Protein 5 2 3 5
  • Gem (Nuclear Organelle) Associated Protein 5 2
  • Gem-Associated Protein 5 3
  • EC 5.4.2.1 61
  • EC 2.7.7.8 61
  • GEMIN-5 3
  • Gemin5 4

External Ids for GEMIN5 Gene

Previous GeneCards Identifiers for GEMIN5 Gene

  • GC05M154360
  • GC05M154250
  • GC05M154295
  • GC05M154247
  • GC05M149410

Summaries for GEMIN5 Gene

Entrez Gene Summary for GEMIN5 Gene

  • This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

GeneCards Summary for GEMIN5 Gene

GEMIN5 (Gem Nuclear Organelle Associated Protein 5) is a Protein Coding gene. Among its related pathways are Transport of the SLBP independent Mature mRNA and RNA transport. GO annotations related to this gene include poly(A) RNA binding and snRNA binding.

UniProtKB/Swiss-Prot for GEMIN5 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. GEMIN5 acts as the snRNA-binding protein of the SMN complex.

Gene Wiki entry for GEMIN5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GEMIN5 Gene

Genomics for GEMIN5 Gene

Regulatory Elements for GEMIN5 Gene

Enhancers for GEMIN5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F154682 1.4 FANTOM5 Ensembl ENCODE 22.2 +255.1 255078 2.3 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 CBX5 FOS GEMIN5 SAP30L-AS1 LARP1 CNOT8 MIR1303
GH05F154940 1 ENCODE 14.4 -3.4 -3352 2.3 HDGF ATF1 WRNIP1 ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 GLIS2 GEMIN5 KIF4B CNOT8 GC05P154943 MRPL22
GH05F154444 0.5 ENCODE 14.2 +492.0 491978 3.3 HDGF PKNOX1 ZFP64 ARID4B SIN3A GLI4 ZNF48 ZNF2 YY1 ZNF121 SAP30L-AS1 GEMIN5 MFAP3 SAP30L HAND1
GH05F154037 0.4 ENCODE 13.6 +899.4 899372 2.1 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CBX5 SAP30L-AS1 LINC01861 ENSG00000261382 GEMIN5 FAM114A2 MFAP3 PIR52529
GH05F154834 0.7 Ensembl ENCODE 12.3 +103.0 102990 1.9 PKNOX1 ARNT MLX ARID4B FEZF1 ZNF2 YY1 ZNF548 FOS KLF13 CNOT8 SAP30L-AS1 MFAP3 GEMIN5 FAXDC2 MIR378H
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GEMIN5 on UCSC Golden Path with GeneCards custom track

Promoters for GEMIN5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001294650 116 1401 HDGF CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF207 SP3

Genomic Location for GEMIN5 Gene

Chromosome:
5
Start:
154,887,416 bp from pter
End:
154,938,216 bp from pter
Size:
50,801 bases
Orientation:
Minus strand

Genomic View for GEMIN5 Gene

Genes around GEMIN5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GEMIN5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GEMIN5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GEMIN5 Gene

Proteins for GEMIN5 Gene

  • Protein details for GEMIN5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TEQ6-GEMI5_HUMAN
    Recommended name:
    Gem-associated protein 5
    Protein Accession:
    Q8TEQ6
    Secondary Accessions:
    • Q14CV0
    • Q8WWV4
    • Q969W4
    • Q9H9K3
    • Q9UFI5

    Protein attributes for GEMIN5 Gene

    Size:
    1508 amino acids
    Molecular mass:
    168589 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 SMN1, SNRPB, SNRPD1, SNRPD2, SNRPD3 and SNRPE.
    SequenceCaution:
    • Sequence=BAB84892.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GEMIN5 Gene

neXtProt entry for GEMIN5 Gene

Selected DME Specific Peptides for GEMIN5 Gene

Post-translational modifications for GEMIN5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GEMIN5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for GEMIN5 Gene

Gene Families for GEMIN5 Gene

Suggested Antigen Peptide Sequences for GEMIN5 Gene

Graphical View of Domain Structure for InterPro Entry

Q8TEQ6

UniProtKB/Swiss-Prot:

GEMI5_HUMAN :
  • Belongs to the WD repeat gemin-5 family.
  • Contains 13 WD repeats.
Family:
  • Belongs to the WD repeat gemin-5 family.
Similarity:
  • Contains 13 WD repeats.
genes like me logo Genes that share domains with GEMIN5: view

Function for GEMIN5 Gene

Molecular function for GEMIN5 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. GEMIN5 acts as the snRNA-binding protein of the SMN complex.

Enzyme Numbers (IUBMB) for GEMIN5 Gene

Gene Ontology (GO) - Molecular Function for GEMIN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IEA --
GO:0005515 protein binding IPI 11714716
GO:0017069 snRNA binding IDA 16857593
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with GEMIN5: view
genes like me logo Genes that share phenotypes with GEMIN5: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GEMIN5 Gene

Localization for GEMIN5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GEMIN5 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 GEMIN5 Gene COMPARTMENTS Subcellular localization image for GEMIN5 gene
Compartment Confidence
cytosol 5
nucleus 5

Gene Ontology (GO) - Cellular Components for GEMIN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 11714716
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with GEMIN5: view

Pathways & Interactions for GEMIN5 Gene

genes like me logo Genes that share pathways with GEMIN5: view

Pathways by source for GEMIN5 Gene

3 Reactome pathways for GEMIN5 Gene
1 KEGG pathway for GEMIN5 Gene

Gene Ontology (GO) - Biological Process for GEMIN5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000387 spliceosomal snRNP assembly TAS 11714716
GO:0000398 mRNA splicing, via spliceosome TAS 11714716
GO:0006397 mRNA processing IEA --
GO:0006461 protein complex assembly TAS 11714716
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with GEMIN5: view

No data available for SIGNOR curated interactions for GEMIN5 Gene

Transcripts for GEMIN5 Gene

Unigene Clusters for GEMIN5 Gene

Gem (nuclear organelle) associated protein 5:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GEMIN5 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18 ^ 19 ^
SP1: -
SP2:
SP3:
SP4:
SP5: - - -
SP6: -
SP7:
SP8:

ExUns: 20a · 20b ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for GEMIN5 Gene

GeneLoc Exon Structure for
GEMIN5
ECgene alternative splicing isoforms for
GEMIN5

Expression for GEMIN5 Gene

mRNA expression in normal human tissues for GEMIN5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GEMIN5 Gene

This gene is overexpressed in Lymph node (14.0), Peripheral blood mononuclear cells (9.7), and Fetal gut (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GEMIN5 Gene



Protein tissue co-expression partners for GEMIN5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GEMIN5 Gene:

GEMIN5

SOURCE GeneReport for Unigene cluster for GEMIN5 Gene:

Hs.483921
genes like me logo Genes that share expression patterns with GEMIN5: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GEMIN5 Gene

Orthologs for GEMIN5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GEMIN5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GEMIN5 34 35
  • 99.36 (n)
dog
(Canis familiaris)
Mammalia GEMIN5 34 35
  • 89.63 (n)
cow
(Bos Taurus)
Mammalia GEMIN5 34 35
  • 88.38 (n)
rat
(Rattus norvegicus)
Mammalia Gemin5 34
  • 82.61 (n)
mouse
(Mus musculus)
Mammalia Gemin5 34 16 35
  • 82.34 (n)
oppossum
(Monodelphis domestica)
Mammalia GEMIN5 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GEMIN5 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves GEMIN5 34 35
  • 66.41 (n)
lizard
(Anolis carolinensis)
Reptilia GEMIN5 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gemin5 34
  • 62.66 (n)
zebrafish
(Danio rerio)
Actinopterygii gemin5 34 35
  • 57.99 (n)
-- 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2827 35
  • 39 (a)
OneToOne
Species where no ortholog for GEMIN5 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)
  • 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 GEMIN5 Gene

ENSEMBL:
Gene Tree for GEMIN5 (if available)
TreeFam:
Gene Tree for GEMIN5 (if available)

Paralogs for GEMIN5 Gene

No data available for Paralogs for GEMIN5 Gene

Variants for GEMIN5 Gene

Sequence variations from dbSNP and Humsavar for GEMIN5 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs371174241 Uncertain significance 154,898,582(+) TTCTA(A/G)GTGAT reference, missense
rs10037626 -- 154,908,888(+) ttttt(C/G)tattc intron-variant
rs10042134 -- 154,911,101(+) AGTAC(C/T)GCCTT intron-variant
rs10064509 -- 154,907,459(+) CTTAA(A/C)AAAAA intron-variant
rs10075074 -- 154,888,836(+) AGTAA(G/T)TGGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GEMIN5 Gene

Variant ID Type Subtype PubMed ID
dgv3199n106 CNV deletion 24896259
esv1191862 CNV deletion 17803354
esv2111508 CNV deletion 18987734
esv2730938 CNV deletion 23290073
esv2730939 CNV deletion 23290073
esv2730941 CNV deletion 23290073
esv3076799 CNV deletion 24192839
esv3607252 CNV loss 21293372
esv992806 CNV deletion 20482838
nsv1152633 CNV deletion 26484159
nsv327782 CNV deletion 16902084
nsv5081 CNV insertion 18451855
nsv955880 CNV deletion 24416366

Variation tolerance for GEMIN5 Gene

Residual Variation Intolerance Score: 88.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.22; 69.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GEMIN5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GEMIN5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GEMIN5 Gene

Disorders for GEMIN5 Gene

Relevant External Links for GEMIN5

Genetic Association Database (GAD)
GEMIN5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GEMIN5

No disorders were found for GEMIN5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GEMIN5 Gene

Publications for GEMIN5 Gene

  1. Gemin5, a novel WD repeat protein component of the SMN complex that binds Sm proteins. (PMID: 11714716) Gubitz A.K. … Dreyfuss G. (J. Biol. Chem. 2002) 2 3 4 64
  2. An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs. (PMID: 18984161) Chari A. … Fischer U. (Cell 2008) 3 4 64
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  4. The Gemin5 protein of the SMN complex identifies snRNAs. (PMID: 16857593) Battle D.J. … Dreyfuss G. (Mol. Cell 2006) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for GEMIN5 Gene

Sources for GEMIN5 Gene

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