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Q96C12 Proteins with ARM Repeats
Uniprot ID: Q96C12
Protein name : Armadillo repeat-containing protein 5
Gene : ARMC5
Protein Families :
Squence Length : 935
Sequence
>Q96C12 936 MAAAKPTLTDSLSFCLAQLAAAAGEALGGEKDPATNETPLSRALLALRTRHIKAAGGIERFRARGGLRPLLALLRRAAAAGSAPSQAGPGSAPSSAASGASSPAPASGPAPSAVSSSSPTPPVRLRKTLDLALSILADCCTEGACRTEVRRLGGILPLVTILQCMKTDSIQNRTARALGNLAMEPESCGDIHCAGAVPLLVESLTACQDSQCLQSVVRALRNLADSPQHRLALAQQGAVRPLAELLATAPDAALTLALVRALLELSRGCSRACAEQLSLGGGLGPLVSLASHPKRAVREGTILILANLCAQGLIRPALGNAGGVEVLVDELRQRRDPNGASPTSQQPLVRAVCLLCREAINRARLRDAGGLDLLMGLLRDPRASAWHPRIVAALVGFLYDTGALGRLQALGLVPLLAGQLCGEAGEEEEEGREAASWDFPEERTPERAQGGSFRSLRSWLISEGYATGPDDISPDWSPEQCPPEPMEPASPAPTPTSLRAPRTQRTPGRSPAAAIEEPWGREGPALLLLSRFSQAPDPSGALVTGPALYGLLTYVTGAPGPPSPRALRILSRLTCNPACLEAFVRSYGAALLRAWLVLGVAPDDWPAPRARPTLHSRHRELGERLLQNLTVQAESPFGVGALTHLLLSGSPEDRVACALTLPFICRKPSLWRRLLLEQGGLRLLLAALTRPAPHPLFLFFAADSLSCLQDLVSPTVSPAVPQAVPMDLDSPSPCLYEPLLGPAPVPAPDLHFLLDSGLQLPAQRAASATASPFFRALLSGSFAEAQMDLVPLRGLSPGAAWPVLHHLHGCRGCGAALGPVPPPGQPLLGSEAEEALEAAGRFLLPGLEEELEEAVGRIHLGPQGGPESVGEVFRLGRPRLAAHCARWTLGSEQCPRKRGLALVGLVEAAGEEAGPLTEALLAVVMGIELGARVPA
Repeat regions
REPEAT 143 183 ARM 1 REPEAT 185 225 ARM 2 REPEAT 227 267 ARM 3 REPEAT 271 310 ARM 4 REPEAT 312 357 ARM 5 REPEAT 359 403 ARM 6 REPEAT 405 444 ARM 7
Sequence region of repeats
143- 183 CRTEVRRLGGILPLVTILQCMKTDSIQNRTARALGNLAMEP 185- 225 SCGDIHCAGAVPLLVESLTACQDSQCLQSVVRALRNLADSP 227- 267 HRLALAQQGAVRPLAELLATAPDAALTLALVRALLELSRGC 271- 310 CAEQLSLGGGLGPLVSLASHPKRAVREGTILILANLCAQG 312- 357 IRPALGNAGGVEVLVDELRQRRDPNGASPTSQQPLVRAVCLLCREA 359- 403 NRARLRDAGGLDLLMGLLRDPRASAWHPRIVAALVGFLYDTGALG 405- 444 LQALGLVPLLAGQLCGEAGEEEEEGREAASWDFPEERTPE
Domains
DOMAIN 748 816 BTB
Function
"Involved in fetal development, T-cell function and adrenal gland growth homeostasis (By similarity). Negatively regulates adrenal cells survival. Plays a role in steroidogenesis, modulates steroidogenic enzymes expression and cortisol production (PubMed:24283224, PubMed:28676429)"
Disease
"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 Note=The disease is caused by mutations affecting the gene represented in this entry"