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GEMIN8 gem nuclear organelle associated protein 8 [ Homo sapiens (human) ]

Gene ID: 54960, updated on 5-Mar-2024

Summary

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Official Symbol
GEMIN8provided by HGNC
Official Full Name
gem nuclear organelle associated protein 8provided by HGNC
Primary source
HGNC:HGNC:26044
See related
Ensembl:ENSG00000046647 MIM:300962; AllianceGenome:HGNC:26044
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FAM51A1
Summary
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]
Expression
Ubiquitous expression in ovary (RPKM 3.3), thyroid (RPKM 3.3) and 25 other tissues See more
Orthologs
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Genomic context

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See GEMIN8 in Genome Data Viewer
Location:
Xp22.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (13984185..14029892, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (13566300..13610205, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (14024845..14048011, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:13752241-13753440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29445 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:13778869-13779368 Neighboring gene trafficking protein particle complex subunit 2 Neighboring gene NANOG hESC enhancer GRCh37_chrX:13820205-13820738 Neighboring gene OFD1 centriole and centriolar satellite protein Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:13845691-13846890 Neighboring gene glycoprotein M6B Neighboring gene H3K27ac hESC enhancers GRCh37_chrX:14047600-14048100 and GRCh37_chrX:14048101-14048601 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:14051018-14051200 Neighboring gene ubiquitin conjugating enzyme E2 E4 pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:14369907-14370598 Neighboring gene uncharacterized LOC107985686 Neighboring gene glycine receptor alpha 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly. Carissimi C, et al. J Biol Chem, 2006 Mar 24. PMID 16434402
  2. Monoubiquitination of survival motor neuron regulates its cellular localization and Cajal body integrity. Han KJ, et al. Hum Mol Genet, 2016 Apr 1. PMID 26908624, Free PMC Article
  3. Ubiquitin-specific protease 9x deubiquitinates and stabilizes the spinal muscular atrophy protein-survival motor neuron. Han KJ, et al. J Biol Chem, 2012 Dec 21. PMID 23112048, Free PMC Article
  4. A comprehensive interaction map of the human survival of motor neuron (SMN) complex. Otter S, et al. J Biol Chem, 2007 Feb 23. PMID 17178713
  5. The SMN complex, an assemblyosome of ribonucleoproteins. Paushkin S, et al. Curr Opin Cell Biol, 2002 Jun. PMID 12067652

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Gemin8 is a novel integral component of the SMN complex
    Title: Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly.
  2. Gemin8 has an essential role in the proper structural organization of the SMN complex and the involvement of the heteromeric subunit containing Gemin6, Gemin7, Gemin8, and Unrip in the recruitment of Sm proteins to the snRNP assembly pathway
    Title: Gemin8 is required for the architecture and function of the survival motor neuron complex.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ20514, FLJ43072

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in spliceosomal snRNP assembly EXP
Inferred from Experiment
more info
 PubMed 
involved_in spliceosomal snRNP assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in spliceosomal snRNP assembly IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in Gemini of coiled bodies IEA
Inferred from Electronic Annotation
more info
  
part_of SMN complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of SMN complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of SMN complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of SMN-Sm protein complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
gem-associated protein 8
Names
family with sequence similarity 51, member A1
gemin-8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021285.2 RefSeqGene

    Range
    5000..28166
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001042479.2 → NP_001035944.1  gem-associated protein 8

    See identical proteins and their annotated locations for NP_001035944.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 3. All three variants encode the same protein.
    Source sequence(s)
    AC003035, AK000521, BX386466
    Consensus CDS
    CCDS14159.1
    UniProtKB/Swiss-Prot
    C4AMC4, Q2LJ66, Q6ZV27, Q9NWZ8
    Related
    ENSP00000505429.1, ENST00000680255.1
    Conserved Domains (1) summary
    pfam15348
    Location:14 → 242
    GEMIN8; Gemini of Cajal bodies-associated protein 8

  2. NM_001042480.2 → NP_001035945.1  gem-associated protein 8

    See identical proteins and their annotated locations for NP_001035945.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. All three variants encode the same protein.
    Source sequence(s)
    AC003035, BC020785
    Consensus CDS
    CCDS14159.1
    UniProtKB/Swiss-Prot
    C4AMC4, Q2LJ66, Q6ZV27, Q9NWZ8
    Related
    ENSP00000381398.3, ENST00000398355.7
    Conserved Domains (1) summary
    pfam15348
    Location:14 → 242
    GEMIN8; Gemini of Cajal bodies-associated protein 8

  3. NM_017856.3 → NP_060326.1  gem-associated protein 8

    See identical proteins and their annotated locations for NP_060326.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript. All three variants encode the same protein.
    Source sequence(s)
    AC003035, AK000521
    Consensus CDS
    CCDS14159.1
    UniProtKB/Swiss-Prot
    C4AMC4, Q2LJ66, Q6ZV27, Q9NWZ8
    Related
    ENSP00000369895.4, ENST00000380523.8
    Conserved Domains (1) summary
    pfam15348
    Location:14 → 242
    GEMIN8; Gemini of Cajal bodies-associated protein 8

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    13984185..14029892 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005274555.4 → XP_005274612.1  gem-associated protein 8 isoform X1

    See identical proteins and their annotated locations for XP_005274612.1

    Conserved Domains (1) summary
    pfam15348
    Location:115 → 343
    GEMIN8; Gemini of Cajal bodies-associated protein 8

  2. XM_047442230.1 → XP_047298186.1  gem-associated protein 8 isoform X2

    UniProtKB/Swiss-Prot
    C4AMC4, Q2LJ66, Q6ZV27, Q9NWZ8

RNA

  1. XR_950464.4 RNA Sequence

  2. XR_001755703.2 RNA Sequence

  3. XR_001755702.2 RNA Sequence

  4. XR_950467.4 RNA Sequence

  5. XR_007068192.1 RNA Sequence

  6. XR_950466.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    13566300..13610205 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327340.1 → XP_054183315.1  gem-associated protein 8 isoform X1

  2. XM_054327341.1 → XP_054183316.1  gem-associated protein 8 isoform X2

    UniProtKB/Swiss-Prot
    C4AMC4, Q2LJ66, Q6ZV27, Q9NWZ8

RNA

  1. XR_008485488.1 RNA Sequence

  2. XR_008485486.1 RNA Sequence

  3. XR_008485490.1 RNA Sequence

  4. XR_008485489.1 RNA Sequence

  5. XR_008485491.1 RNA Sequence

  6. XR_008485487.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NWZ8.1 GenPept UniProtKB/Swiss-Prot:Q9NWZ8

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