Seroatlas · Human Serome Atlas

ARMC5

Armadillo repeat-containing protein 5

Also known as: ARMC5_HUMAN, FLJ13063

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96C12
Gene: ARMC5
Ensembl: ENSG00000140691
Chromosome: 16
Canonical length: 935 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Focal adhesion sites,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

935 residues, UniProt reviewed canonical sequence.

>Q96C12|ARMC5
     1  MAAAKPTLTD SLSFCLAQLA AAAGEALGGE KDPATNETPL SRALLALRTR HIKAAGGIER
    61  FRARGGLRPL LALLRRAAAA GSAPSQAGPG SAPSSAASGA SSPAPASGPA PSAVSSSSPT
   121  PPVRLRKTLD LALSILADCC TEGACRTEVR RLGGILPLVT ILQCMKTDSI QNRTARALGN
   181  LAMEPESCGD IHCAGAVPLL VESLTACQDS QCLQSVVRAL RNLADSPQHR LALAQQGAVR
   241  PLAELLATAP DAALTLALVR ALLELSRGCS RACAEQLSLG GGLGPLVSLA SHPKRAVREG
   301  TILILANLCA QGLIRPALGN AGGVEVLVDE LRQRRDPNGA SPTSQQPLVR AVCLLCREAI
   361  NRARLRDAGG LDLLMGLLRD PRASAWHPRI VAALVGFLYD TGALGRLQAL GLVPLLAGQL
   421  CGEAGEEEEE GREAASWDFP EERTPERAQG GSFRSLRSWL ISEGYATGPD DISPDWSPEQ
   481  CPPEPMEPAS PAPTPTSLRA PRTQRTPGRS PAAAIEEPWG REGPALLLLS RFSQAPDPSG
   541  ALVTGPALYG LLTYVTGAPG PPSPRALRIL SRLTCNPACL EAFVRSYGAA LLRAWLVLGV
   601  APDDWPAPRA RPTLHSRHRE LGERLLQNLT VQAESPFGVG ALTHLLLSGS PEDRVACALT
   661  LPFICRKPSL WRRLLLEQGG LRLLLAALTR PAPHPLFLFF AADSLSCLQD LVSPTVSPAV
   721  PQAVPMDLDS PSPCLYEPLL GPAPVPAPDL HFLLDSGLQL PAQRAASATA SPFFRALLSG
   781  SFAEAQMDLV PLRGLSPGAA WPVLHHLHGC RGCGAALGPV PPPGQPLLGS EAEEALEAAG
   841  RFLLPGLEEE LEEAVGRIHL GPQGGPESVG EVFRLGRPRL AAHCARWTLG SEQCPRKRGL
   901  ALVGLVEAAG EEAGPLTEAL LAVVMGIELG ARVPA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ARMC5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.3
Highest tissue expression: 30 nTPM

Expression across tissuesHPA

Tissue

liver: 30 nTPM
bone marrow: 20 nTPM
skeletal muscle: 20 nTPM
cerebellum: 13 nTPM
cerebral cortex: 13 nTPM
pituitary gland: 13 nTPM

Single-cell type

cardiomyocytes: 46 nCPM
hepatocytes: 35 nCPM
pdcs: 21 nCPM
megakaryocytes: 19 nCPM
epicardial cells: 16 nCPM
granulosa cells: 15 nCPM

Immune cell

NK-cell: 7.2 nTPM
plasmacytoid DC: 7.2 nTPM
T-reg: 3.3 nTPM
gdT-cell: 3.2 nTPM
myeloid DC: 3 nTPM
basophil: 2.9 nTPM

Brain region

medulla oblongata: 24 nTPM
pons: 24 nTPM
cerebral cortex: 21 nTPM
white matter: 19 nTPM
midbrain: 18 nTPM
basal ganglia: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ARMC5.

Disease | AllUniProt

Conditions ARMC5 is implicated in, by any mechanism.

ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) MIM:615954

Disease | GeneticClinVar

32 pathogenic / likely-pathogenic of 315 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

ACTH-independent macronodular adrenal hyperplasia 2
ARMC5-related disorder
Cushing syndrome due to macronodular adrenal hyperplasia
Macronodular adrenal hyperplasia
Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.49
gnomAD pLI: 0.11
gnomAD missense Z: 1.71
DepMap mean gene effect: -0.35
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

ubiquitin-like ligase-substrate adaptor activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ARMC5 as an antibody target. Whether an autoantibody or antibody against ARMC5 could matter depends on whether native ARMC5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ARMC5 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ARMC5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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