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

Gene ID: 54960, updated on 11-Sep-2019

Summary

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
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

Genomic context

See GEMIN8 in Genome Data Viewer
Location:
Xp22.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (14002494..14029918, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (14024845..14048035, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene OFD1 centriole and centriolar satellite protein Neighboring gene glycoprotein M6B Neighboring gene uncharacterized LOC105373138 Neighboring gene ubiquitin conjugating enzyme E2 E4 pseudogene Neighboring gene uncharacterized LOC107985686 Neighboring gene glycine receptor alpha 2

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from BioSystems

  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Metabolism of non-coding RNA, organism-specific biosystem (from REACTOME)
    Metabolism of non-coding RNA, organism-specific biosystemThe term non-coding is commonly employed for RNA that does not encode a protein, but this does not mean that such RNAs do not contain information nor have function. There is considerable evidence tha...
  • RNA transport, organism-specific biosystem (from KEGG)
    RNA transport, organism-specific biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
  • RNA transport, conserved biosystem (from KEGG)
    RNA transport, conserved biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
  • Survival motor neuron (SMN) complex, organism-specific biosystem (from KEGG)
    Survival motor neuron (SMN) complex, organism-specific biosystemStructural complex; Genetic information processing; RNA processing
  • Survival motor neuron (SMN) complex, conserved biosystem (from KEGG)
    Survival motor neuron (SMN) complex, conserved biosystemStructural complex; Genetic information processing; RNA processing
  • snRNP Assembly, organism-specific biosystem (from REACTOME)
    snRNP Assembly, organism-specific biosystemSmall nuclear ribonucleoproteins (snRNPs) are crucial for pre-mRNA processing to mRNAs. Each snRNP contains a small nuclear RNA (snRNA) and an extremely stable core of seven Sm proteins. The U6 snRNA...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20514, FLJ43072

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_021285.1 RefSeqGene

    Range
    5025..28191
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001042479.2NP_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
    Q9NWZ8
    UniProtKB/TrEMBL
    A0A024RBX2
    Conserved Domains (1) summary
    pfam15348
    Location:14242
    GEMIN8; Gemini of Cajal bodies-associated protein 8
  2. NM_001042480.2NP_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
    Q9NWZ8
    UniProtKB/TrEMBL
    A0A024RBX2
    Related
    ENSP00000381398.3, ENST00000398355.7
    Conserved Domains (1) summary
    pfam15348
    Location:14242
    GEMIN8; Gemini of Cajal bodies-associated protein 8
  3. NM_017856.3NP_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
    Q9NWZ8
    UniProtKB/TrEMBL
    A0A024RBX2
    Related
    ENSP00000369895.4, ENST00000380523.8
    Conserved Domains (1) summary
    pfam15348
    Location:14242
    GEMIN8; Gemini of Cajal bodies-associated protein 8

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    14002494..14029918 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029618.2XP_016885107.1  gem-associated protein 8 isoform X2

    UniProtKB/Swiss-Prot
    Q9NWZ8
    UniProtKB/TrEMBL
    A0A024RBX2
    Conserved Domains (1) summary
    pfam15348
    Location:14242
    GEMIN8; Gemini of Cajal bodies-associated protein 8
  2. XM_017029617.2XP_016885106.1  gem-associated protein 8 isoform X2

    UniProtKB/Swiss-Prot
    Q9NWZ8
    UniProtKB/TrEMBL
    A0A024RBX2
    Conserved Domains (1) summary
    pfam15348
    Location:14242
    GEMIN8; Gemini of Cajal bodies-associated protein 8
  3. XM_005274555.3XP_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:115343
    GEMIN8; Gemini of Cajal bodies-associated protein 8

RNA

  1. XR_001755703.1 RNA Sequence

  2. XR_950467.3 RNA Sequence

  3. XR_950464.3 RNA Sequence

  4. XR_950466.3 RNA Sequence

  5. XR_001755705.2 RNA Sequence

  6. XR_001755702.1 RNA Sequence

  7. XR_001755704.2 RNA Sequence

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