FAM179B
entrez
23116
canonical
uniprot
Q9Y4F4
canonical
ensembl
ENSG00000198718
resolver
ensp
ENSP00000354917
resolver
ensp
ENSP00000355045
resolver
ensp
ENSP00000546618
resolver
ensp
ENSP00000713713
resolver
enst
ENST00000361462
resolver
genesymbol
FAM179B
resolver
genesymbol
TOGARAM1
resolver
genesymbol_syn
FAM179B
resolver
genesymbol_syn
KIAA0423
resolver
hgnc
HGNC:19959
resolver
uniprot
B4DHM7
resolver
uniprot
G3XAE9
resolver
uniprot
Q68D66
resolver
uniprot
Q6P183
resolver
uniprot
Q6PG27
resolver
uniprot_entry
B4DHM7_HUMAN
resolver
uniprot_entry
G3XAE9_HUMAN
resolver
uniprot_entry
Q6P183_HUMAN
resolver
uniprot_entry
TGRM1_HUMAN
resolver
uniprot_sec
Q68D66
resolver
uniprot_sec
Q6PG27
resolver
amino_acid_sequence
MAAAPSALLLLPPFPVLSTYRLQSRSRPSAPETDDSRVGGIMRGEKNYYFRGAAGDHGSCPTTTSPLASALLMPSEAVSSSWSESGGGLSGGDEEDTRLLQLLRTARDPSEAFQALQAALPRRGGRLGFPRRKEALYRALGRVLVEGGSDEKRLCLQLLSDVLRGQGEAGQLEEAFSLALLPQLVVSLREENPALRKDALQILHICLKRSPGEVLRTLIQQGLESTDARLRASTALLLPILLTTEDLLLGLDLTEVIISLARKLGDQETEEESETAFSALQQIGERLGQDRFQSYISRLPSALRRHYNRRLESQFGSQVPYYLELEASGFPEDPLPCAVTLSNSNLKFGIIPQELHSRLLDQEDYKNRTQAVEELKQVLGKFNPSSTPHSSLVGFISLLYNLLDDSNFKVVHGTLEVLHLLVIRLGEQVQQFLGPVIAASVKVLADNKLVIKQEYMKIFLKLMKEVGPQQVLCLLLEHLKHKHSRVREEVVNICICSLLTYPSEDFDLPKLSFDLAPALVDSKRRVRQAALEAFAVLASSMGSGKTSILFKAVDTVELQDNGDGVMNAVQARLARKTLPRLTEQGFVEYAVLMPSSAGGRSNHLAHGADTDWLLAGNRTQSAHCHCGDHVRDSMHIYGSYSPTICTRRVLSAGKGKNKLPWENEQPGIMGENQTSTSKDIEQFSTYDFIPSAKLKLSQGMPVNDDLCFSRKRVSRNLFQNSRDFNPDCLPLCAAGTTGTHQTNLSGKCAQLGFSQICGKTGSVGSDLQFLGTTSSHQEKVYASLNFGSKTQQTFGSQTECTSSNGQNPSPGAYILPSYPVSSPRTSPKHTSPLIISPKKSQDNSVNFSNSWPLKSFEGLSKPSPQKKLVSQKSSDPTGRNHGENSQEKPPVQLTPALVRSPSSRRGLNGTKPVPPIPRGISLLPDKADLSTVGHKKKEPDDIWKCEKDSLPIDLSELNFKDKDLDQEEMHSSLRSLRNSAAKKRAKLSGSTSDLESPDSAMKLDLTMDSPSLSSSPNINSYSESGVYSQESLTSSLSTTPQGKRIMSDIFPTFGSKPCPTRLSSAKKKISHIAEQSPSAGSSSNPQQISSFDFTTTKALSEDSVVVVGKGVFGSLSSAPATCSQSVISSVENGDTFSIKQSIEPPSGIYGRSVQQNISSYLDVENEKDAKVSISKSTYNKMRQKRKEEKELFHNKDCEKKEKNSWERMRHTGTEKMASESETPTGAISQYKERMPSVTHSPEIMDLSELRPFSKPEIALTEALRLLADEDWEKKIEGLNFIRCLAAFHSEILNTKLHETNFAVVQEVKNLRSGVSRAAVVCLSDLFTYLKKSMDQELDTTVKVLLHKAGESNTFIREDVDKALRAMVNNVTPARAVVSLINGGQRYYGRKMLFFMMCHPNFEKMLEKYVPSKDLPYIKDSVRNLQQKGLGEIPLDTPSAKGRRSHTGSVGNTRSSSVSRDAFNSAERAVTEVREVTRKSVPRNSLESAEYLKLITGLLNAKDFRDRINGIKQLLSDTENNQDLVVGNIVKIFDAFKSRLHDSNSKVNLVALETMHKMIPLLRDHLSPIINMLIPAIVDNNLNSKNPGIYAAATNVVQALSQHVDNYLLLQPFCTKAQFLNGKAKQDMTEKLADIVTELYQRKPHATEQKVLVVLWHLLGNMTNSGSLPGAGGNIRTATAKLSKALFAQMGQNLLNQAASQPPHIKKSLEELLDMTILNEL
uniprot
proteins
disease_involvement
DISEASE: Joubert syndrome 37 (JBTS37) [MIM:619185]: 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. JBTS37 inheritance is autosomal recessive. {ECO:0000269|PubMed:32453716, ECO:0000269|PubMed:32747439}. 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). Interacts with microtubules and promotes microtubule polymerization via its HEAT repeat domains, especially those in TOG region 2 and 4 (By similarity). {ECO:0000250|UniProtKB:Q17423, ECO:0000250|UniProtKB:Q6A070, ECO:0000269|PubMed:32453716}.
uniprot
proteins
mass_dalton
189360
uniprot
proteins
protein_family
Crescerin family
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16335990
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
32453716
uniprot
proteins
pubmed
32747439
uniprot
proteins
pubmed
9455477
uniprot
proteins
sequence_length
1720
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250|UniProtKB:Q6A070}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q6A070}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:32453716}. Note=Detected along the length of primary cilia and at the basal body. Colocalization with the cytoplasmic microtubule cytoskeleton upon heterologous expression is most likely an artifact. {ECO:0000250|UniProtKB:Q6A070}.
uniprot
proteins