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

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; AllianceGenome:HGNC:20043
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: mouse all
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Genomic context

Location:: 5q33.2

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (154887411..154938211, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (155421376..155472109, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (154266971..154317771, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Alternative splicing events driven by altered levels of GEMIN5 undergo translation.
Title: Alternative splicing events driven by altered levels of GEMIN5 undergo translation.
Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies.
Title: Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies.
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment.
Title: Mutations of GEMIN5 are associated with coenzyme Q(10) deficiency: long-term follow-up after treatment.
SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration.
Title: SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration.
A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy.
Title: A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy.
Functional and structural deficiencies of Gemin5 variants associated with neurological disorders.
Title: Functional and structural deficiencies of Gemin5 variants associated with neurological disorders.
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy.
Title: Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy.
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Title: Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
The characterization of this unanticipated dimerization domain provides the structural basis for a role of the middle region of Gemin5 as a central hub for protein-protein interactions.
Title: Structural basis for the dimerization of Gemin5 and its role in protein recruitment and translation control.
The non-canonical RNA-binding domains of gem nuclear organelle associated protein 5 (Gemin5) recognize distinct RNAs.
Title: The landscape of the non-canonical RNA-binding site of Gemin5 unveils a feedback loop counteracting the negative effect on translation.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction MedGen: C5543427 OMIM: 619333 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L31480 (e-PCR)
- UniSTS:81214

SHGC-64126 (e-PCR)
- UniSTS:37979

RH102803 (e-PCR)
- UniSTS:97137

RH47000 (e-PCR)
- UniSTS:34196

SHGC-133084 (e-PCR)
- UniSTS:171007

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 more info	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	IBA Inferred from Biological aspect of Ancestor more info
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	EXP Inferred from Experiment more info	PubMed
involved_in spliceosomal snRNP assembly	IBA Inferred from Biological aspect of Ancestor more info
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	IBA Inferred from Biological aspect of Ancestor more info
part_of SMN complex	IDA Inferred from Direct Assay more info	PubMed
part_of SMN complex	IPI Inferred from Physical Interaction 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 more info	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
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: gem-associated protein 5

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

NG_052854.1 RefSeqGene

Range

5006..55806

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001252156.2 → NP_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/TrEMBL

B7ZLC9

Conserved Domains (4) summary

smart00320
Location:672 → 709

WD40; WD40 repeats

COG2319
Location:239 → 730

WD40; WD40 repeat [General function prediction only]

sd00039
Location:428 → 467

7WD40; WD40 repeat [structural motif]

cl02567
Location:342 → 667

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 ...
NM_015465.5 → NP_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

Q14CV0, Q8TEQ6, Q8WWV4, Q969W4, Q9H9K3, Q9UFI5

UniProtKB/TrEMBL

B7ZLC9

Related

ENSP00000285873.6, ENST00000285873.8

Conserved Domains (4) summary

smart00320
Location:673 → 710

WD40; WD40 repeats

COG2319
Location:240 → 731

WD40; WD40 repeat [General function prediction only]

sd00039
Location:429 → 468

7WD40; WD40 repeat [structural motif]

cl02567
Location:343 → 668

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 ...