ARMC5 armadillo repeat containing 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARMC5provided by HGNC
Official Full Name: armadillo repeat containing 5provided by HGNC
Primary source: HGNC:HGNC:25781
See related: Ensembl:ENSG00000140691 MIM:615549; AllianceGenome:HGNC:25781
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: AIMAH2
Summary: This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The encoded protein contains seven ARM repeats. Mutations in this gene are associated with primary bilateral macronodular adrenal hyperplasia, which is also known as ACTH-independent macronodular adrenal hyperplasia 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
Expression: Ubiquitous expression in bone marrow (RPKM 6.5), spleen (RPKM 2.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p11.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (31458304..31467167)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (31845692..31854555)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (31469625..31478488)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Neuroradiological features of patients with bilateral macronodular adrenocortical disease and meningiomas associated or not with genetic variants of ARMC5- a case series.
Title: Neuroradiological features of patients with bilateral macronodular adrenocortical disease and meningiomas associated or not with genetic variants of ARMC5- a case series.
Familial bilateral macronodular adrenal hyperplasia due to a novel ARMC 5 germline mutation: Clinical status and possible association with other neoplasms.
Title: Familial bilateral macronodular adrenal hyperplasia due to a novel ARMC 5 germline mutation: Clinical status and possible association with other neoplasms.
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.
Prevalence and clinical features of armadillo repeat-containing 5 mutations carriers in a single center cohort of patients with bilateral adrenal incidentalomas.
Title: Prevalence and clinical features of armadillo repeat-containing 5 mutations carriers in a single center cohort of patients with bilateral adrenal incidentalomas.
Morphological Harbingers of ARMC5-Pathogenic Variant-Related Bilateral Macronodular Adrenocortical Disease.
Title: Morphological Harbingers of ARMC5-Pathogenic Variant-Related Bilateral Macronodular Adrenocortical Disease.
New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH).
Title: New pathogenic variants in ARMC5 gene in a series of Italian patients affected by primary bilateral macronodular adrenocortical hyperplasia (PBMAH).
Tumor suppressor gene ARMC5 controls adrenal redox state through NRF1 turnover.
Title: Tumor suppressor gene ARMC5 controls adrenal redox state through NRF1 turnover.
ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in adrenal hyperplasia.
Title: ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in adrenal hyperplasia.
Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients.
Title: Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients.
Deubiquitylation and stabilization of ARMC5 by ubiquitin-specific processing protease 7 (USP7) are critical for RCC proliferation.
Title: Deubiquitylation and stabilization of ARMC5 by ubiquitin-specific processing protease 7 (USP7) are critical for RCC proliferation.

Submit: New GeneRIF Correction See all GeneRIFs (31)

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
ACTH-independent macronodular adrenal hyperplasia 2 MedGen: C4014803 OMIM: 615954 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in focal adhesion	IDA Inferred from Direct Assay more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay 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.

Genomic

NG_034258.1 RefSeqGene

Range

6229..13893

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001105247.2 → NP_001098717.1 armadillo repeat-containing protein 5 isoform a

See identical proteins and their annotated locations for NP_001098717.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) has an alternate 5' UTR and initiates translation at a downstream AUG codon, compared to variant 3. The resulting isoform (a) has a shorter N-terminus, compared to isoform c.

Source sequence(s)

AC026471

Consensus CDS

CCDS45472.1

UniProtKB/Swiss-Prot

Q86WM9, Q96C12, Q9H7P8, Q9H925

UniProtKB/TrEMBL

B4DH27

Related

ENSP00000268314.4, ENST00000268314.9

Conserved Domains (2) summary

cd00020
Location:148 → 258

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

sd00043
Location:149 → 181

ARM; armadillo repeat [structural motif]
NM_001288767.2 → NP_001275696.1 armadillo repeat-containing protein 5 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (3) encodes the longest isoform (c).

Source sequence(s)

AK294897, AK295790, BC014945

Consensus CDS

CCDS73874.1

UniProtKB/TrEMBL

B4DIU9, J3KQ26

Related

ENSP00000386125.3, ENST00000408912.7

Conserved Domains (2) summary

cd00020
Location:243 → 353

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

sd00043
Location:244 → 276

ARM; armadillo repeat [structural motif]
NM_001301820.1 → NP_001288749.1 armadillo repeat-containing protein 5 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region, compared to variant 3. The resulting isoform (d) has a shorter and distinct N-terminus, compared to isoform c.

Source sequence(s)

AK294897, AK295790, AY217348, BC014945

UniProtKB/TrEMBL

B4DH27

Conserved Domains (1) summary

sd00043
Location:181 → 213

ARM; armadillo repeat [structural motif]
NM_024742.2 → NP_079018.1 armadillo repeat-containing protein 5 isoform b precursor

See identical proteins and their annotated locations for NP_079018.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' and 3' UTRs and has multiple coding region differences, compared to variant 3. These differences cause translation initiation at a downstream AUG and a different 3' coding sequence. The resulting isoform (b) has a shorter N-terminus and a distinct C-terminus, compared to isoform c.

Source sequence(s)

AY217348, BC014945

Consensus CDS

CCDS42155.1

UniProtKB/Swiss-Prot

Q96C12

Related

ENSP00000399561.2, ENST00000457010.6

Conserved Domains (2) summary

cd00020
Location:148 → 258

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

sd00043
Location:149 → 181

ARM; armadillo repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000016.10 Reference GRCh38.p14 Primary Assembly

Range

31458304..31467167

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006721091.4 → XP_006721154.1 armadillo repeat-containing protein 5 isoform X1

UniProtKB/TrEMBL

B4DH27

Conserved Domains (1) summary

sd00043
Location:181 → 213

ARM; armadillo repeat [structural motif]
XM_047434651.1 → XP_047290607.1 armadillo repeat-containing protein 5 isoform X2

UniProtKB/TrEMBL

B4DH27

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

31845692..31854555

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054313948.1 → XP_054169923.1 armadillo repeat-containing protein 5 isoform X1

UniProtKB/TrEMBL

B4DH27
XM_054313949.1 → XP_054169924.1 armadillo repeat-containing protein 5 isoform X2

UniProtKB/TrEMBL

B4DH27