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GEMIN5 gem nuclear organelle associated protein 5 [ Homo sapiens (human) ]

Gene ID: 25929, updated on 7-Jul-2019

Summary

Official Symbol
GEMIN5provided by HGNC
Official Full Name
gem nuclear organelle associated protein 5provided by HGNC
Primary source
HGNC:HGNC:20043
See related
Ensembl:ENSG00000082516 MIM:607005
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
GEMIN-5
Summary
This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Expression
Ubiquitous expression in testis (RPKM 4.9), ovary (RPKM 4.6) and 25 other tissues See more
Orthologs

Genomic context

See GEMIN5 in Genome Data Viewer
Location:
5q33.2
Exon count:
28
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (154887411..154938216, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (154266976..154317776, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene fatty acid hydroxylase domain containing 2 Neighboring gene microRNA 378h Neighboring gene CCR4-NOT transcription complex subunit 8 Neighboring gene mitochondrial ribosomal protein L22 Neighboring gene cytochrome c oxidase subunit 7A2 like pseudogene

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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag Cellular biotinylated gem-associated protein 5 (GEMIN5) protein is incorporated into HIV-1 Gag virus-like particles 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

  • MGC142174, DKFZp586M1824

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA 7-methylguanosine cap binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA binding HDA PubMed 
U1 snRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
U4 snRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
U4atac snRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
mRNA 3'-UTR binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ribosome binding IDA
Inferred from Direct Assay
more info
PubMed 
snRNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
import into nucleus TAS
Traceable Author Statement
more info
 
mRNA splicing, via spliceosome TAS
Traceable Author Statement
more info
PubMed 
protein-containing complex assembly TAS
Traceable Author Statement
more info
PubMed 
regulation of translation IMP
Inferred from Mutant Phenotype
more info
PubMed 
spliceosomal snRNP assembly IDA
Inferred from Direct Assay
more info
PubMed 
spliceosomal snRNP assembly TAS
Traceable Author Statement
more info
PubMed 
translation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Gemini of coiled bodies IEA
Inferred from Electronic Annotation
more info
 
SMN complex IDA
Inferred from Direct Assay
more info
PubMed 
SMN-Gemin2 complex IDA
Inferred from Direct Assay
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
 
colocalizes_with cytosolic large ribosomal subunit IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 

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_052854.1 RefSeqGene

    Range
    5001..55801
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001252156.1NP_001239085.1  gem-associated protein 5 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AK074066, AL117665, BC014147, BC036894, BC143724, BX329222, DA400244
    UniProtKB/Swiss-Prot
    Q8TEQ6
    UniProtKB/TrEMBL
    B7ZLC9, Q58EZ8
    Conserved Domains (4) summary
    smart00320
    Location:672709
    WD40; WD40 repeats
    COG2319
    Location:239730
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:428467
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:342667
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. NM_015465.5NP_056280.2  gem-associated protein 5 isoform 1

    See identical proteins and their annotated locations for NP_056280.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC008421, AK074066, AL117665, BC014147, BC036894, BX329222, DA400244
    Consensus CDS
    CCDS4330.1
    UniProtKB/Swiss-Prot
    Q8TEQ6
    UniProtKB/TrEMBL
    Q58EZ8
    Related
    ENSP00000285873.6, ENST00000285873.8
    Conserved Domains (4) summary
    smart00320
    Location:673710
    WD40; WD40 repeats
    COG2319
    Location:240731
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:429468
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:343668
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

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_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    154887411..154938216 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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