The protein encoded by this gene is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein binds to both SMN1 and the GEMIN6/GEMIN7 heterodimer, mediating their interaction. This protein is found in nuclear Gemini of Cajal bodies (gems) and in the cytoplasm. Three transcript variants... See more...

Aliases for GEMIN8 Gene

Aliases for GEMIN8 Gene

  • Gem Nuclear Organelle Associated Protein 8 2 3 5
  • Family With Sequence Similarity 51, Member A1 2 3
  • Gem-Associated Protein 8 3 4
  • Gemin-8 3 4
  • FAM51A1 3 4
  • Gem (Nuclear Organelle) Associated Protein 8 2
  • Protein FAM51A1 4

External Ids for GEMIN8 Gene

Previous HGNC Symbols for GEMIN8 Gene

  • FAM51A1

Previous GeneCards Identifiers for GEMIN8 Gene

  • GC0XM013937
  • GC0XM014024
  • GC0XM011782

Summaries for GEMIN8 Gene

Entrez Gene Summary for GEMIN8 Gene

  • The protein encoded by this gene is part of the SMN complex, which is necessary for spliceosomal snRNP assembly in the cytoplasm and pre-mRNA splicing in the nucleus. The encoded protein binds to both SMN1 and the GEMIN6/GEMIN7 heterodimer, mediating their interaction. This protein is found in nuclear Gemini of Cajal bodies (gems) and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]

GeneCards Summary for GEMIN8 Gene

GEMIN8 (Gem Nuclear Organelle Associated Protein 8) is a Protein Coding gene. Diseases associated with GEMIN8 include Duodenal Obstruction and Spinal Muscular Atrophy. Among its related pathways are Transport of the SLBP independent Mature mRNA and Gene Expression.

UniProtKB/Swiss-Prot Summary for GEMIN8 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 GEMIN8 Gene

Additional gene information for GEMIN8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GEMIN8 Gene

Genomics for GEMIN8 Gene

GeneHancer (GH) Regulatory Elements for GEMIN8 Gene

Promoters and enhancers for GEMIN8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ014027 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 552.1 +1.1 1066 4.1 HNRNPK ZBTB40 EP300 ZSCAN5C SIN3A NRF1 MYC USF1 POLR2G PHF8 GEMIN8 lnc-GPM6B-2 lnc-OFD1-3 GPM6B
GH0XJ013646 Enhancer 1.4 FANTOM5 Ensembl ENCODE 40.5 +381.5 381478 5.3 CTCF PHB2 FOS ZNF639 ZNF10 ZIC2 ZBTB11 AFF1 TRIM28 TARDBP GEMIN8 TCEANC RAB9A lnc-TRAPPC2-1 piR-32214-704
GH0XJ013936 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 21.6 +91.8 91847 4.5 ZIC2 ZBTB26 ATF2 ZNF341 POLR2A OSR2 EZH2 KLF9 SP2 ZBTB17 GPM6B GEMIN8 RF00017-8165 RF00017-8163
GH0XJ014032 Enhancer 0.8 Ensembl ENCODE 41.4 -2.7 -2685 2 CTCF ZNF10 REST RAD21 TRIM22 SMC3 YY1 ZNF654 MAX ZNF660 GEMIN8 lnc-OFD1-3 piR-41525-703
GH0XJ014038 Enhancer 0.7 Ensembl 42.4 -9.4 -9384 2.2 EP300 CTCF REST CUX1 RAD21 TRIM22 SMC3 PBX2 SPI1 ELF1 GEMIN8 lnc-OFD1-3 piR-41525-703
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GEMIN8 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GEMIN8

Top Transcription factor binding sites by QIAGEN in the GEMIN8 gene promoter:
  • AML1a
  • C/EBPalpha
  • GATA-1
  • Msx-1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx6-1
  • Pbx1a
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for GEMIN8 Gene

Genomic Locations for GEMIN8 Gene
chrX:14,002,124-14,029,916
(GRCh38/hg38)
Size:
27,793 bases
Orientation:
Minus strand
chrX:14,024,845-14,048,035
(GRCh37/hg19)
Size:
23,191 bases
Orientation:
Minus strand

Genomic View for GEMIN8 Gene

Genes around GEMIN8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GEMIN8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GEMIN8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GEMIN8 Gene

Proteins for GEMIN8 Gene

  • Protein details for GEMIN8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWZ8-GEMI8_HUMAN
    Recommended name:
    Gem-associated protein 8
    Protein Accession:
    Q9NWZ8
    Secondary Accessions:
    • C4AMC4
    • Q2LJ66
    • Q6ZV27

    Protein attributes for GEMIN8 Gene

    Size:
    242 amino acids
    Molecular mass:
    28637 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 and with the GEMIN6-GEMIN7 heterodimer, mediating their interaction.
    SequenceCaution:
    • Sequence=BAC86038.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for GEMIN8 Gene

Post-translational modifications for GEMIN8 Gene

  • Ubiquitination at Lys10
  • Modification sites at PhosphoSitePlus

Other Protein References for GEMIN8 Gene

No data available for DME Specific Peptides for GEMIN8 Gene

Domains & Families for GEMIN8 Gene

Gene Families for GEMIN8 Gene

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

Protein Domains for GEMIN8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GEMIN8 Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM51A1 (GEMI8_HUMAN)
genes like me logo Genes that share domains with GEMIN8: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for GEMIN8 Gene

Function for GEMIN8 Gene

Molecular function for GEMIN8 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.

Gene Ontology (GO) - Molecular Function for GEMIN8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17023415
genes like me logo Genes that share ontologies with GEMIN8: view
genes like me logo Genes that share phenotypes with GEMIN8: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GEMIN8 Gene

Localization for GEMIN8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GEMIN8 Gene

Nucleus, gem. Cytoplasm. Note=Found 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 GEMIN8 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2
cytoskeleton 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GEMIN8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 16434402
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA,IEA 17023415
GO:0005829 cytosol TAS --
GO:0032797 SMN complex IEA,IDA 16434402
genes like me logo Genes that share ontologies with GEMIN8: view

Pathways & Interactions for GEMIN8 Gene

genes like me logo Genes that share pathways with GEMIN8: view

Pathways by source for GEMIN8 Gene

3 Reactome pathways for GEMIN8 Gene
1 KEGG pathway for GEMIN8 Gene

Gene Ontology (GO) - Biological Process for GEMIN8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000387 spliceosomal snRNP assembly TAS --
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 GEMIN8: view

No data available for SIGNOR curated interactions for GEMIN8 Gene

Drugs & Compounds for GEMIN8 Gene

No Compound Related Data Available

Transcripts for GEMIN8 Gene

mRNA/cDNA for GEMIN8 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GEMIN8 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g ^ 7a · 7b · 7c · 7d
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - - - - -
SP6: - - - -
SP7: - - -
SP8: -
SP9:

Relevant External Links for GEMIN8 Gene

GeneLoc Exon Structure for
GEMIN8

Expression for GEMIN8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GEMIN8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GEMIN8 Gene

This gene is overexpressed in Bone (57.9) and Pancreas (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GEMIN8 Gene



Protein tissue co-expression partners for GEMIN8 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GEMIN8

SOURCE GeneReport for Unigene cluster for GEMIN8 Gene:

Hs.592237

Evidence on tissue expression from TISSUES for GEMIN8 Gene

  • Nervous system(4.4)
  • Intestine(4.2)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with GEMIN8: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GEMIN8 Gene

Orthologs for GEMIN8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GEMIN8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GEMIN8 31 30
  • 98.9 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GEMIN8 31 30
  • 77.87 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gemin8 30
  • 76.55 (n)
mouse
(Mus musculus)
Mammalia Gemin8 17 31 30
  • 76.51 (n)
cow
(Bos Taurus)
Mammalia GEMIN8 31 30
  • 70.13 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GEMIN8 31
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GEMIN8 31
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves GEMIN8 31 30
  • 61.31 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GEMIN8 31
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gemin8 30
  • 67.72 (n)
Str.521 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.4507 30
zebrafish
(Danio rerio)
Actinopterygii gemin8 31 30
  • 55.76 (n)
OneToOne
wufd13g07 30
Species where no ortholog for GEMIN8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 GEMIN8 Gene

ENSEMBL:
Gene Tree for GEMIN8 (if available)
TreeFam:
Gene Tree for GEMIN8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GEMIN8: view image

Paralogs for GEMIN8 Gene

Pseudogenes.org Pseudogenes for GEMIN8 Gene

genes like me logo Genes that share paralogs with GEMIN8: view

No data available for Paralogs for GEMIN8 Gene

Variants for GEMIN8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GEMIN8 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
719272 Benign: not provided 14,020,459(-) C/A MISSENSE_VARIANT
745327 Benign: not provided 14,020,542(-) A/G INTRON_VARIANT
787514 Benign: not provided 14,020,415(-) G/C SYNONYMOUS_VARIANT
rs3747421 - p.Glu195Val

Additional dbSNP identifiers (rs#s) for GEMIN8 Gene

Structural Variations from Database of Genomic Variants (DGV) for GEMIN8 Gene

Variant ID Type Subtype PubMed ID
nsv528634 CNV gain 19592680

Variation tolerance for GEMIN8 Gene

Residual Variation Intolerance Score: 57.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.05; 50.48% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GEMIN8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GEMIN8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GEMIN8 Gene

Disorders for GEMIN8 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GEMIN8 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
duodenal obstruction
spinal muscular atrophy
  • progressive muscular atrophy
amyotrophic lateral sclerosis 1
  • als1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GEMIN8

genes like me logo Genes that share disorders with GEMIN8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GEMIN8 Gene

Publications for GEMIN8 Gene

  1. Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly. (PMID: 16434402) Carissimi C … Pellizzoni L (The Journal of biological chemistry 2006) 2 3 4 54
  2. An assembly chaperone collaborates with the SMN complex to generate spliceosomal SnRNPs. (PMID: 18984161) Chari A … Fischer U (Cell 2008) 3 4 54
  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 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for GEMIN8 Gene

Sources for GEMIN8 Gene