ARMC9
entrez
80210
canonical
uniprot
Q7Z3E5
canonical
ensembl
ENSG00000135931
resolver
ensp
ENSP00000258417
resolver
ensp
ENSP00000392086
resolver
ensp
ENSP00000484804
resolver
ensp
ENSP00000507152
resolver
ensp
ENSP00000507513
resolver
ensp
ENSP00000507543
resolver
ensp
ENSP00000507743
resolver
ensp
ENSP00000508405
resolver
ensp
ENSP00000579303
resolver
enst
ENST00000349938
resolver
enst
ENST00000436339
resolver
enst
ENST00000682002
resolver
enst
ENST00000683271
resolver
enst
ENST00000683575
resolver
enst
ENST00000684432
resolver
enst
ENST00000684718
resolver
genesymbol
ARMC9
resolver
genesymbol_syn
KIAA1868
resolver
hgnc
HGNC:20730
resolver
uniprot
A0A087X1I8
resolver
uniprot
A0A2Q3DP09
resolver
uniprot
A0A804HJI1
resolver
uniprot
H7BZY2
resolver
uniprot
Q53TI3
resolver
uniprot
Q6P162
resolver
uniprot
Q7L594
resolver
uniprot
Q86WG2
resolver
uniprot
Q96JF9
resolver
uniprot
Q9H9R8
resolver
uniprot_entry
A0A2Q3DP09_HUMAN
resolver
uniprot_entry
A0A804HJI1_HUMAN
resolver
uniprot_entry
ARMC9_HUMAN
resolver
uniprot_entry
H7BZY2_HUMAN
resolver
uniprot_sec
A0A087X1I8
resolver
uniprot_sec
Q53TI3
resolver
uniprot_sec
Q6P162
resolver
uniprot_sec
Q7L594
resolver
uniprot_sec
Q86WG2
resolver
uniprot_sec
Q96JF9
resolver
uniprot_sec
Q9H9R8
resolver
amino_acid_sequence
MGDILAHESELLGLVKEYLDFAEFEDTLKTFSKECKIKGKPLCKTVGGSFRDSKSLTIQKDLVAAFDNGDQKVFFDLWEEHISSSIRDGDSFAQKLEFYLHIHFAIYLLKYSVGRPDKEELDEKISYFKTYLETKGAALSQTTEFLPFYALPFVPNPMVHPSFKELFQDSWTPELKLKLIKFLALISKASNTPKLLTIYKENGQSNKEILQQLHQQLVEAERRSVTYLKRYNKIQADYHNLIGVTAELVDSLEATVSGKMITPEYLQSVCVRLFSNQMRQSLAHSVDFTRPGTASTMLRASLAPVKLKDVPLLPSLDYEKLKKDLILGSDRLKAFLLQALRWRLTTSHPGEQRETVLQAYISNDLLDCYSHNQRSVLQLLHSTSDVVRQYMARLINAFASLAEGRLYLAQNTKVLQMLEGRLKEEDKDIITRENVLGALQKFSLRRPLQTAMIQDGLIFWLVDVLKDPDCLSDYTLEYSVALLMNLCLRSTGKNMCAKVAGLVLKVLSDLLGHENHEIQPYVNGALYSILSVPSIREEARAMGMEDILRCFIKEGNAEMIRQIEFIIKQLNSEELPDGVLESDDDEDEDDEEDHDIMEADLDKDELIQPQLGELSGEKLLTTEYLGIMTNTGKTRRKGLANVQWSGDEPLQRPVTPGGHRNGYPVVEDQHTPPQTAQHARNGHPQALPAAHEAVYREGKPSTPESCVSSSSAIIAKPGEWLPRGRQEEPRPAPTGTPRQPREAPQDPGNGVTTRECASAFTCKPRAPCTPEMLDWNPPKAKASVLAPLFSSCGPQQASRPGSTASSTRGLPSSQSHRK
uniprot
proteins
disease_involvement
DISEASE: Joubert syndrome 30 (JBTS30) [MIM:617622]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS30 inheritance is autosomal recessive. {ECO:0000269|PubMed:28625504}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in ciliogenesis (PubMed:32453716). It is required for appropriate acetylation and polyglutamylation of ciliary microtubules, and regulation of cilium length (PubMed:32453716). Acts as a positive regulator of hedgehog (Hh)signaling (By similarity). May participate in the trafficking and/or retention of GLI2 and GLI3 proteins at the ciliary tip (By similarity). {ECO:0000250|UniProtKB:E7F187, ECO:0000250|UniProtKB:Q9D2I5, ECO:0000269|PubMed:32453716}.
uniprot
proteins
mass_dalton
91819
uniprot
proteins
pubmed
11347906
uniprot
proteins
pubmed
11691810
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23033978
uniprot
proteins
pubmed
28625504
uniprot
proteins
pubmed
32453716
uniprot
proteins
pubmed
38949024
uniprot
proteins
sequence_length
818
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:28625504}. Cell projection, cilium {ECO:0000250|UniProtKB:Q9D2I5}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:28625504}. Note=Localized to the proximal region in cilia. Stimulation of Hh signaling leads to redistribution of ARMC9 toward the ciliary tip within 6 hours, follow by a gradual return to its original proximal location (By similarity). Localizes to the daughter centriole of the primary cilium in RPE1 cells (PubMed:28625504). {ECO:0000250|UniProtKB:Q9D2I5, ECO:0000269|PubMed:28625504}.
uniprot
proteins