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

Gene ID: 25929, updated on 26-Jul-2021

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
NEDCAM; 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
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Genomic context

See GEMIN5 in Genome Data Viewer
Location:
5q33.2
Exon count:
28
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (154887411..154938211, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (154266971..154317771, 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 Functions

What'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 PubChem

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

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_052854.1 RefSeqGene

    Range
    5006..55806
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001252156.2NP_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)
    AC008421, 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 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_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    154887411..154938211 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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