Armc5 armadillo repeat containing 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Armc5provided by MGI
Official Full Name: armadillo repeat containing 5provided by MGI
Primary source: MGI:MGI:2384586
See related: Ensembl:ENSMUSG00000042178 AllianceGenome:MGI:2384586
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
Summary: Acts upstream of or within several processes, including T cell activation; adrenal cortex development; and defense response to virus. Located in membrane. Is expressed in thymus primordium. Human ortholog(s) of this gene implicated in ACTH-independent macronodular adrenal hyperplasia 2. Orthologous to human ARMC5 (armadillo repeat containing 5). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 30.3), thymus adult (RPKM 27.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F3; 7 70.06 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (127836460..127844272)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (128237357..128245100)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans.
Title: ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans.
Study on Armc5 knockout mice revealed that ARMC5 is crucial in fetal development and immune responses.
Title: Armc5 deletion causes developmental defects and compromises T-cell immune responses.
New mouse line can be used to study tissue-specific effects of Armc5. Armc5 haploinsufficiency leads to Cushing syndrome in mice, but only later in life, and this involves PKA, its catalytic subunit Calpha, and the Wnt/beta-catenin pathway.
Title: Age-dependent effects of Armc5 haploinsufficiency on adrenocortical function.

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Variation

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Alleles

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

Targeted (4) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within CD4-positive, alpha-beta T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within T cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within adrenal cortex development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in anatomical structure morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within defense response to virus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesoderm formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of steroid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in focal adhesion	IEA Inferred from Electronic Annotation more info
located_in focal adhesion	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: armadillo repeat-containing 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_146205.2 → NP_666317.2 armadillo repeat-containing protein 5

See identical proteins and their annotated locations for NP_666317.2

Status: VALIDATED

Source sequence(s)

AK131111, BC025196

Consensus CDS

CCDS21892.1

UniProtKB/Swiss-Prot

Q5EBP3, Q6KAU6, Q8CDI5, Q8R3J0

UniProtKB/TrEMBL

Q8K287

Related

ENSMUSP00000040568.6, ENSMUST00000044660.6

Conserved Domains (2) summary

sd00043
Location:145 → 177

ARM; armadillo repeat [structural motif]

cl38908
Location:744 → 839

BTB_POZ; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain superfamily

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_000073.7 Reference GRCm39 C57BL/6J

Range

127836460..127844272

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036153022.1 → XP_036008915.1 armadillo repeat-containing protein 5 isoform X1

Conserved Domains (1) summary

sd00043
Location:145 → 177

ARM; armadillo repeat [structural motif]