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

Gene ID: 50628, updated on 8-Jul-2021

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
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Genomic context

See GEMIN4 in Genome Data Viewer
Location:
17p13.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (744421..752868, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (647661..655504, 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 TLC domain containing 3A 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
GeneReviews: Not available
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
MedGen: C4693567 OMIM: 617913 GeneReviews: Not available
not available

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 PubChem

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
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ribonucleoprotein complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in rRNA processing IEA
Inferred from Electronic Annotation
more info
 
involved_in spliceosomal snRNP assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in spliceosomal snRNP assembly IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in Cajal body IDA
Inferred from Direct Assay
more info
PubMed 
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
PubMed 
part_of SMN complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of SMN-Sm protein complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm TAS
Traceable Author Statement
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 extracellular exosome HDA PubMed 
located_in membrane HDA PubMed 
located_in nuclear body IDA
Inferred from Direct Assay
more info
 
located_in nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
part_of 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)

NEW Try the new Transcript table

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
    5609..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 Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 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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