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

Gene ID: 79798, updated on 2-Nov-2024

Summary

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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

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See ARMC5 in Genome Data Viewer
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_000016.10Genomic Context describing neighboring genes Neighboring gene cytochrome c oxidase subunit 6A2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31446802-31447302 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:31447884-31448054 Neighboring gene zinc finger protein 843 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31453737-31454532 Neighboring gene Sharpr-MPRA regulatory region 15326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31464004-31464776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31464777-31465548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31468736-31469304 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:31469952-31470492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10764 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7419 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31483812-31484352 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:31486867-31487599 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31487600-31488331 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31488332-31489064 Neighboring gene transforming growth factor beta 1 induced transcript 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7421 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:31500209-31500868 Neighboring gene solute carrier family 5 member 2 Neighboring gene RUS family member 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. A multicenter experience on the prevalence of ARMC5 mutations in patients with primary bilateral macronodular adrenal hyperplasia: from genetic characterization to clinical phenotype. Albiger NM, et al. Endocrine, 2017 Mar. PMID 27094308
  2. The Association of ARMC5 with the Renin-Angiotensin-Aldosterone System, Blood Pressure, and Glycemia in African Americans. Joseph JJ, et al. J Clin Endocrinol Metab, 2020 Aug 1. PMID 32436940, Free PMC Article
  3. ARMC5 mutations are associated with high levels of proliferating cell nuclear antigen and the presence of the serotonin receptor 5HT4R in PMAH nodules. Conceição BBD, et al. Arch Endocrinol Metab, 2020 Aug. PMID 32267363, Free PMC Article
  4. Allelic Variants of ARMC5 in Patients With Adrenal Incidentalomas and in Patients With Cushing's Syndrome Associated With Bilateral Adrenal Nodules. Mariani BMP, et al. Front Endocrinol (Lausanne), 2020. PMID 32117062, Free PMC Article
  5. Cullin 3 targets the tumor suppressor gene ARMC5 for ubiquitination and degradation. Cavalcante IP, et al. Endocr Relat Cancer, 2020 Apr. PMID 32023208

See all (56) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. Morphological Harbingers of ARMC5-Pathogenic Variant-Related Bilateral Macronodular Adrenocortical Disease.
    Title: Morphological Harbingers of ARMC5-Pathogenic Variant-Related Bilateral Macronodular Adrenocortical Disease.
  6. 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).
  7. Tumor suppressor gene ARMC5 controls adrenal redox state through NRF1 turnover.
    Title: Tumor suppressor gene ARMC5 controls adrenal redox state through NRF1 turnover.
  8. 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.
  9. 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.
  10. 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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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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • FLJ00019, FLJ13063

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

  1. NG_034258.1 RefSeqGene

    Range
    6229..13893
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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]

  2. 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]

  3. 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]

  4. 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

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    31458304..31467167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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]

  2. XM_047434651.1 → XP_047290607.1  armadillo repeat-containing protein 5 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    31845692..31854555
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96C12.2 GenPept UniProtKB/Swiss-Prot:Q96C12

Gene LinkOut

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