Gemin5 gem nuclear organelle associated protein 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gemin5provided by MGI
Official Full Name: gem nuclear organelle associated protein 5provided by MGI
Primary source: MGI:MGI:2449311
See related: Ensembl:ENSMUSG00000037275 AllianceGenome:MGI:2449311
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: C330013N08
Summary: Enables mRNA 3'-UTR binding activity. Predicted to be involved in regulation of translation and spliceosomal snRNP assembly. Predicted to be located in Gemini of coiled bodies and cytosol. Predicted to be part of SMN complex and SMN-Gemin2 complex. Predicted to be active in nucleus. Is expressed in heart ventricle. Human ortholog(s) of this gene implicated in neurodevelopmental disorder with cerebellar atrophy and motor dysfunction. Orthologous to human GEMIN5 (gem nuclear organelle associated protein 5). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis adult (RPKM 13.5), ovary adult (RPKM 7.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B1.3; 11 35.72 cM

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (58010827..58059378, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (58120001..58168554, complement)

Chromosome 11 - NC_000077.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Understanding the Role of the SMN Complex Component GEMIN5 and Its Functional Relationship with Demethylase KDM6B in the Flunarizine-Mediated Neuroprotection of Motor Neuron Disease Spinal Muscular Atrophy.
Title: Understanding the Role of the SMN Complex Component GEMIN5 and Its Functional Relationship with Demethylase KDM6B in the Flunarizine-Mediated Neuroprotection of Motor Neuron Disease Spinal Muscular Atrophy.
This work both reveals a new autoregulatory pathway governing SMN expression, and identifies a new mechanism through which SMN can modulate specific mRNA expression via Gemin5.
Title: Gemin5 Binds to the Survival Motor Neuron mRNA to Regulate SMN Expression.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BB194447 (e-PCR)
- UniSTS:208680

RH124556 (e-PCR)
- UniSTS:161378

RH125659 (e-PCR)
- UniSTS:162445

AI451603 (e-PCR)
- UniSTS:180207

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA 7-methylguanosine cap binding	ISO Inferred from Sequence Orthology more info
enables RNA 7-methylguanosine cap binding	ISS Inferred from Sequence or Structural Similarity more info
enables U1 snRNA binding	ISO Inferred from Sequence Orthology more info
enables U1 snRNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables U4 snRNA binding	ISO Inferred from Sequence Orthology more info
enables U4 snRNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables U4atac snRNA binding	ISO Inferred from Sequence Orthology more info
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 mRNA 3'-UTR binding	ISO Inferred from Sequence Orthology more info
enables ribosome binding	ISO Inferred from Sequence Orthology more info
enables ribosome binding	ISS Inferred from Sequence or Structural Similarity more info
enables snRNA binding	ISO Inferred from Sequence Orthology more info
enables snRNA binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in regulation of translation	ISO Inferred from Sequence Orthology more info
involved_in regulation of translation	ISS Inferred from Sequence or Structural Similarity more info
involved_in spliceosomal snRNP assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in spliceosomal snRNP assembly	ISO Inferred from Sequence Orthology more info
involved_in spliceosomal snRNP assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in translation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Gemini of coiled bodies	ISS Inferred from Sequence or Structural Similarity more info
part_of SMN complex	IBA Inferred from Biological aspect of Ancestor more info
part_of SMN complex	ISO Inferred from Sequence Orthology more info
part_of SMN complex	ISS Inferred from Sequence or Structural Similarity more info
part_of SMN-Gemin2 complex	ISO Inferred from Sequence Orthology more info
part_of SMN-Gemin2 complex	ISS Inferred from Sequence or Structural Similarity more info
part_of SMN-Sm protein complex	ISO Inferred from Sequence Orthology more info
part_of SMN-Sm protein complex	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology 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.

mRNA and Protein(s)

NM_001166669.1 → NP_001160141.1 gem-associated protein 5 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AI462876, AK143536, AK162955, AL672182, BY742908

Consensus CDS

CCDS48802.1

UniProtKB/TrEMBL

B7ZN04, E9PUU4

Related

ENSMUSP00000131842.2, ENSMUST00000172035.8

Conserved Domains (3) summary

COG2319
Location:53 → 411

WD40; WD40 repeat [General function prediction only]

sd00039
Location:154 → 193

7WD40; WD40 repeat [structural motif]

cl02567
Location:57 → 408

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_001166670.1 → NP_001160142.1 gem-associated protein 5 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses alternate in-frame splice junctions at the 5' ends of two different exons compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is 2 aa shorter compared to isoform 1.

Source sequence(s)

AI462876, AK143536, AK162955, BY742908

UniProtKB/TrEMBL

B2RQ83

Conserved Domains (4) summary

PHA02666
Location:1285 → 1468

PHA02666; hypothetical protein; Provisional

COG2319
Location:53 → 410

WD40; WD40 repeat [General function prediction only]

sd00039
Location:154 → 193

7WD40; WD40 repeat [structural motif]

cl02567
Location:57 → 407

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_001166671.1 → NP_001160143.1 gem-associated protein 5 isoform 4

Status: VALIDATED

Description

Transcript Variant: This variant (4) uses an alternate splice junction at the 5' end of an exon compared to variant 1, that causes a frameshift. The translation start site is thought to occur downstream of the alternate splice junction, making the resulting isoform (4) shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AI462876, AK143536, AK162955, BY742908

UniProtKB/TrEMBL

Q6KAS0

Conserved Domains (4) summary

PHA02666
Location:1024 → 1207

PHA02666; hypothetical protein; Provisional

COG2319
Location:25 → 448

WD40; WD40 repeat [General function prediction only]

sd00039
Location:69 → 115

7WD40; WD40 repeat [structural motif]

cl02567
Location:67 → 406

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_001374702.1 → NP_001361631.1 gem-associated protein 5 isoform 5

Status: VALIDATED

Source sequence(s)

AL672182

Consensus CDS

CCDS88159.1

UniProtKB/TrEMBL

A2AFQ9, B2RQ83

Related

ENSMUSP00000099772.3, ENSMUST00000102711.9

Conserved Domains (3) summary

COG2319
Location:287 → 710

WD40; WD40 repeat [General function prediction only]

sd00039
Location:154 → 193

7WD40; WD40 repeat [structural motif]

cl29593
Location:57 → 408

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_172558.3 → NP_766146.2 gem-associated protein 5 isoform 2

See identical proteins and their annotated locations for NP_766146.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.

Source sequence(s)

AI462876, AK143536, AK162955, BY742908

Consensus CDS

CCDS24723.1

UniProtKB/Swiss-Prot

Q3UPH2, Q8BX17

UniProtKB/TrEMBL

B2RQ83

Related

ENSMUSP00000036603.7, ENSMUST00000035604.13

Conserved Domains (4) summary

PHA02666
Location:1286 → 1469

PHA02666; hypothetical protein; Provisional

COG2319
Location:53 → 411

WD40; WD40 repeat [General function prediction only]

sd00039
Location:154 → 193

7WD40; WD40 repeat [structural motif]

cl02567
Location:57 → 408

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: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

58010827..58059378 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017314446.3 → XP_017169935.1 gem-associated protein 5 isoform X2

UniProtKB/TrEMBL

B7ZN04

Conserved Domains (3) summary

COG2319
Location:286 → 709

WD40; WD40 repeat [General function prediction only]

sd00039
Location:154 → 193

7WD40; WD40 repeat [structural motif]

cl29593
Location:57 → 407

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 ...
XM_017314445.3 → XP_017169934.1 gem-associated protein 5 isoform X1

UniProtKB/TrEMBL

B7ZN04

Conserved Domains (3) summary

COG2319
Location:287 → 710

WD40; WD40 repeat [General function prediction only]

sd00039
Location:154 → 193

7WD40; WD40 repeat [structural motif]

cl29593
Location:57 → 408

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 ...
XM_036156545.1 → XP_036012438.1 gem-associated protein 5 isoform X4

UniProtKB/TrEMBL

B2RQ83

Conserved Domains (3) summary

COG2319
Location:286 → 709

WD40; WD40 repeat [General function prediction only]

sd00039
Location:154 → 193

7WD40; WD40 repeat [structural motif]

cl29593
Location:57 → 407

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 ...
XM_006532853.5 → XP_006532916.1 gem-associated protein 5 isoform X3

UniProtKB/TrEMBL

B7ZN04

Conserved Domains (3) summary

COG2319
Location:286 → 709

WD40; WD40 repeat [General function prediction only]

sd00039
Location:154 → 193

7WD40; WD40 repeat [structural motif]

cl29593
Location:57 → 407

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 ...