FAM149B1
entrez
317662
canonical
uniprot
Q96BN6
canonical
ensembl
ENSG00000138286
resolver
ensp
ENSP00000242505
resolver
ensp
ENSP00000362046
resolver
ensp
ENSP00000653031
resolver
ensp
ENSP00000800168
resolver
genesymbol
FAM149B1
resolver
genesymbol_syn
KIAA0974
resolver
hgnc
HGNC:29162
resolver
uniprot
Q9Y2I0
resolver
uniprot_entry
F149B_HUMAN
resolver
uniprot_sec
Q9Y2I0
resolver
amino_acid_sequence
MISRYTRKAVPQSLELKGITKHALNHHPPPEKLEEISPTSDSHEKDTSSQSKSDITRESSFTSADTGNSLSAFPSYTGAGISTEGSSDFSWGYGELDQNATEKVQTMFTAIDELLYEQKLSVHTKSLQEECQQWTASFPHLRILGRQIITPSEGYRLYPRSPSAVSASYETTLSQERDSTIFGIRGKKLHFSSSYAHKASSIAKSSSFCSMERDEEDSIIVSEGIIEEYLAFDHIDIEEGFHGKKSEAATEKQKLGYPPIAPFYCMKEDVLAYVFDSVWCKVVSCMEQLTRSHWEGFASDDESNVAVTRPDSESSCVLSELHPLVLPRVPQSKVLYITSNPMSLCQASRHQPNVNDLLVHGMPLQPRNLSLMDKLLDLDDKLLMRPGSSTILSTRNWPNRAVEFSTSSLSYTVQSTRRRNPPPRTLHPISTSHSCAETPRSVEEILRGARVPVAPDSLSSPSPTPLSRNNLLPPIGTAEVEHVSTVGPQRQMKPHGDSSRAQSAVVDEPNYQQPQERLLLPDFFPRPNTTQSFLLDTQYRRSCAVEYPHQARPGRGSAGPQLHGSTKSQSGGRPVSRTRQGP
uniprot
proteins
disease_involvement
DISEASE: Joubert syndrome 36 (JBTS36) [MIM:618763]: 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. JBTS36 inheritance is autosomal recessive. {ECO:0000269|PubMed:30905400}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in the localization of proteins to the cilium and cilium assembly. Indirectly regulates the signaling functions of the cilium, being required for normal SHH/smoothened signaling and proper development. {ECO:0000269|PubMed:30905400}.
uniprot
proteins
mass_dalton
64618
uniprot
proteins
protein_family
FAM149 family
uniprot
proteins
pubmed
10231032
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
30905400
uniprot
proteins
sequence_length
582
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000305|PubMed:30905400}.
uniprot
proteins