ARMC5
entrez
79798
canonical
uniprot
Q96C12
canonical
ensembl
ENSG00000140691
resolver
ensp
ENSP00000268314
resolver
ensp
ENSP00000386125
resolver
ensp
ENSP00000399561
resolver
ensp
ENSP00000618191
resolver
enst
ENST00000408912
resolver
genesymbol
ARMC5
resolver
hgnc
HGNC:25781
resolver
uniprot
B4DH27
resolver
uniprot
B4DIU9
resolver
uniprot
J3KQ26
resolver
uniprot
Q86WM9
resolver
uniprot
Q9H7P8
resolver
uniprot
Q9H925
resolver
uniprot_entry
ARMC5_HUMAN
resolver
uniprot_entry
B4DH27_HUMAN
resolver
uniprot_entry
B4DIU9_HUMAN
resolver
uniprot_entry
J3KQ26_HUMAN
resolver
uniprot_sec
Q86WM9
resolver
uniprot_sec
Q9H7P8
resolver
uniprot_sec
Q9H925
resolver
amino_acid_sequence
MAAAKPTLTDSLSFCLAQLAAAAGEALGGEKDPATNETPLSRALLALRTRHIKAAGGIERFRARGGLRPLLALLRRAAAAGSAPSQAGPGSAPSSAASGASSPAPASGPAPSAVSSSSPTPPVRLRKTLDLALSILADCCTEGACRTEVRRLGGILPLVTILQCMKTDSIQNRTARALGNLAMEPESCGDIHCAGAVPLLVESLTACQDSQCLQSVVRALRNLADSPQHRLALAQQGAVRPLAELLATAPDAALTLALVRALLELSRGCSRACAEQLSLGGGLGPLVSLASHPKRAVREGTILILANLCAQGLIRPALGNAGGVEVLVDELRQRRDPNGASPTSQQPLVRAVCLLCREAINRARLRDAGGLDLLMGLLRDPRASAWHPRIVAALVGFLYDTGALGRLQALGLVPLLAGQLCGEAGEEEEEGREAASWDFPEERTPERAQGGSFRSLRSWLISEGYATGPDDISPDWSPEQCPPEPMEPASPAPTPTSLRAPRTQRTPGRSPAAAIEEPWGREGPALLLLSRFSQAPDPSGALVTGPALYGLLTYVTGAPGPPSPRALRILSRLTCNPACLEAFVRSYGAALLRAWLVLGVAPDDWPAPRARPTLHSRHRELGERLLQNLTVQAESPFGVGALTHLLLSGSPEDRVACALTLPFICRKPSLWRRLLLEQGGLRLLLAALTRPAPHPLFLFFAADSLSCLQDLVSPTVSPAVPQAVPMDLDSPSPCLYEPLLGPAPVPAPDLHFLLDSGLQLPAQRAASATASPFFRALLSGSFAEAQMDLVPLRGLSPGAAWPVLHHLHGCRGCGAALGPVPPPGQPLLGSEAEEALEAAGRFLLPGLEEELEEAVGRIHLGPQGGPESVGEVFRLGRPRLAAHCARWTLGSEQCPRKRGLALVGLVEAAGEEAGPLTEALLAVVMGIELGARVPA
uniprot
proteins
disease_involvement
DISEASE: ACTH-independent macronodular adrenal hyperplasia 2 (AIMAH2) [MIM:615954]: A form of macronodular adrenal hyperplasia characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. {ECO:0000269|PubMed:24283224, ECO:0000269|PubMed:24601692, ECO:0000269|PubMed:24708098, ECO:0000269|PubMed:24905064, ECO:0000269|PubMed:25822102, ECO:0000269|PubMed:25853793, ECO:0000269|PubMed:26604299, ECO:0000269|PubMed:27094308, ECO:0000269|PubMed:28458897, ECO:0000269|PubMed:28676429, ECO:0000269|PubMed:29343284, ECO:0000269|PubMed:29370219, ECO:0000269|PubMed:29587644, ECO:0000269|PubMed:31555754, ECO:0000269|PubMed:32023208, ECO:0000269|PubMed:32117062, ECO:0000269|PubMed:32713866, ECO:0000269|PubMed:32934851, ECO:0000269|PubMed:33105102, ECO:0000269|PubMed:33971873, ECO:0000269|PubMed:35368666, ECO:0000269|PubMed:35862218, ECO:0000269|PubMed:35996143, ECO:0000269|PubMed:36553033, ECO:0000269|PubMed:38225631}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000269|PubMed:24283224, ECO:0000269|PubMed:28676429, ECO:0000269|PubMed:35687106, ECO:0000269|PubMed:35862218, ECO:0000269|PubMed:38225631, ECO:0000269|PubMed:39504960, ECO:0000269|PubMed:39667934}.
uniprot
proteins
mass_dalton
97682
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination. {ECO:0000269|PubMed:35687106, ECO:0000269|PubMed:38225631, ECO:0000269|PubMed:39504960, ECO:0000269|PubMed:39667934}.
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex, leading to its degradation (PubMed:32023208). Deubiquitinated by USP7 (PubMed:33544460). {ECO:0000269|PubMed:32023208, ECO:0000269|PubMed:33544460}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24283224
uniprot
proteins
pubmed
24601692
uniprot
proteins
pubmed
24708098
uniprot
proteins
pubmed
24905064
uniprot
proteins
pubmed
25822102
uniprot
proteins
pubmed
25853793
uniprot
proteins
pubmed
26446392
uniprot
proteins
pubmed
26604299
uniprot
proteins
pubmed
27094308
uniprot
proteins
pubmed
28458897
uniprot
proteins
pubmed
28676429
uniprot
proteins
pubmed
29343284
uniprot
proteins
pubmed
29370219
uniprot
proteins
pubmed
29587644
uniprot
proteins
pubmed
31555754
uniprot
proteins
pubmed
32023208
uniprot
proteins
pubmed
32117062
uniprot
proteins
pubmed
32713866
uniprot
proteins
pubmed
32934851
uniprot
proteins
pubmed
33105102
uniprot
proteins
pubmed
33544460
uniprot
proteins
pubmed
33971873
uniprot
proteins
pubmed
35368666
uniprot
proteins
pubmed
35687106
uniprot
proteins
pubmed
35862218
uniprot
proteins
pubmed
35996143
uniprot
proteins
pubmed
36553033
uniprot
proteins
pubmed
38225631
uniprot
proteins
pubmed
39504960
uniprot
proteins
pubmed
39667934
uniprot
proteins
sequence_length
935
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:35687106, ECO:0000269|PubMed:38225631, ECO:0000269|PubMed:39667934}. Chromosome {ECO:0000269|PubMed:39667934}. Cytoplasm {ECO:0000269|PubMed:24283224, ECO:0000269|PubMed:35687106, ECO:0000269|PubMed:35862218, ECO:0000269|PubMed:38225631}. Note=Associates to RNA polymerase II (Pol II) on chromatin. {ECO:0000269|PubMed:39667934}.
uniprot
proteins