ARMC5

Chr 16p11.2

armadillo repeat containing 5

Aliases:: FLJ13063
MANE:: ENST00000268314.9

OMIM: 615549 ↗NCBI: 79798 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ARMC5 · Q96C12

v62025-08-01

Predicted Aligned Error matrix for ARMC5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

80.8/ 100

Confident

935 residues

Confidence breakdown

Very high(≥ 90)58%
Confident(70–90)19%
Low(50–70)6%
Very low(< 50)16%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Primary pigmented nodular adrenocortical disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

acth-independent macronodular adrenal hyperplasia 2
0.81
Cushing syndrome due to macronodular adrenal hyperplasia
0.49
hereditary disease
0.42
Macronodular adrenal hyperplasia
0.27
primary pigmented nodular adrenocortical disease
0.07
congenital adrenal hyperplasia
0.07
Glycosuria
0.07
congenital isolated adrenocorticotropic hormone deficiency
0.06
renal cell carcinoma
0.06
adrenal cortex carcinoma
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Armadillo repeat-containing protein 5

Substrate-recognition component of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes (PubMed:39504960, PubMed:39667934). The BCR(ARMC5) complex provides a quality checkpoint during transcription elongation by driving premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation: the BCR(ARMC5) complex acts by mediating ubiquitination of Pol II subunit POLR2A phosphorylated at 'Ser-5' of the C-terminal domain (CTD), leading to POLR2A degradation (PubMed:35687106, PubMed:38225631, PubMed:39504960, PubMed:39667934). The BCR(ARMC5) complex acts in parallel of the integrator complex and is specific for RNA Pol II originating from the promoter-proximal zone: it does not ubiquitinate elongation-stalled RNA Pol II (PubMed:39667934). The BCR(ARMC5) complex also acts as a regulator of fatty acid desaturation by mediating ubiquitination and degradation of SCAP-free SREBF1 and SREBF2 (PubMed:35862218). Involved in fetal development, T-cell function and adrenal gland growth homeostasis (PubMed:24283224, PubMed:28676429). Plays a role in steroidogenesis, modulates steroidogenic enzymes expression and cortisol production (PubMed:24283224, PubMed:28676429)