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GEMIN4 gem nuclear organelle associated protein 4 [ Homo sapiens (human) ]

Gene ID: 50628, updated on 15-Apr-2019

Summary

Official Symbol
GEMIN4provided by HGNC
Official Full Name
gem nuclear organelle associated protein 4provided by HGNC
Primary source
HGNC:HGNC:15717
See related
Ensembl:ENSG00000179409 MIM:606969
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
p97; HC56; HCAP1; HHRF-1; NEDMCR
Summary
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]
Expression
Broad expression in testis (RPKM 20.3), skin (RPKM 9.4) and 23 other tissues See more
Orthologs

Genomic context

See GEMIN4 in Genome Data Viewer
Location:
17p13.3
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (744421..752868, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (647661..656038, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene VPS53 subunit of GARP complex Neighboring gene ribosomal protein S4X pseudogene 17 Neighboring gene family with sequence similarity 57 member A Neighboring gene diazepam binding inhibitor-like 5, pseudogene Neighboring gene glyoxalase domain containing 4 Neighboring gene mitochondrial rRNA methyltransferase 3 Neighboring gene nucleoredoxin Neighboring gene uncharacterized LOC101927727

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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
MedGen: C4693567 OMIM: 617913 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr HIV-1 Vpr is identified to have a physical interaction with gem (nuclear organelle) associated protein 4 (GEMIN4) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

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

  • DKFZp434B131, DKFZp434D174

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
 
rRNA processing IEA
Inferred from Electronic Annotation
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 TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
membrane HDA PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleolus IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
small nuclear ribonucleoprotein complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
gem-associated protein 4
Names
HCC-associated protein 1
component of gems 4
gemin-4

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_046938.1 RefSeqGene

    Range
    5612..13452
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_015721.3NP_056536.2  gem-associated protein 4

    See identical proteins and their annotated locations for NP_056536.2

    Status: REVIEWED

    Source sequence(s)
    AC087392, BC020062, BC036024, DB455185
    Consensus CDS
    CCDS45559.1
    UniProtKB/Swiss-Prot
    P57678
    UniProtKB/TrEMBL
    Q8WUM5
    Related
    ENSP00000321706.5, ENST00000319004.6

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    744421..752868 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523911.2XP_011522213.1  gem-associated protein 4 isoform X1

    See identical proteins and their annotated locations for XP_011522213.1

  2. XM_017024709.1XP_016880198.1  gem-associated protein 4 isoform X1

  3. XM_005256670.5XP_005256727.1  gem-associated protein 4 isoform X2

    See identical proteins and their annotated locations for XP_005256727.1

    UniProtKB/TrEMBL
    I3L2C7
    Related
    ENSP00000459565.1, ENST00000576778.1
  4. XM_011523910.2XP_011522212.1  gem-associated protein 4 isoform X1

    See identical proteins and their annotated locations for XP_011522212.1

  5. XM_011523912.2XP_011522214.1  gem-associated protein 4 isoform X2

    See identical proteins and their annotated locations for XP_011522214.1

    UniProtKB/TrEMBL
    I3L2C7
  6. XM_005256667.4XP_005256724.1  gem-associated protein 4 isoform X1

    See identical proteins and their annotated locations for XP_005256724.1

  7. XM_011523913.2XP_011522215.1  gem-associated protein 4 isoform X2

    See identical proteins and their annotated locations for XP_011522215.1

    UniProtKB/TrEMBL
    I3L2C7
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