AHI1
entrez
54806
canonical
uniprot
Q8N157
canonical
ensembl
ENSG00000135541
resolver
ensp
ENSP00000265602
resolver
ensp
ENSP00000322478
resolver
ensp
ENSP00000356774
resolver
ensp
ENSP00000388650
resolver
ensp
ENSP00000504895
resolver
ensp
ENSP00000504965
resolver
ensp
ENSP00000505364
resolver
ensp
ENSP00000505502
resolver
ensp
ENSP00000505663
resolver
ensp
ENSP00000505809
resolver
ensp
ENSP00000506005
resolver
ensp
ENSP00000506009
resolver
ensp
ENSP00000506261
resolver
ensp
ENSP00000611524
resolver
ensp
ENSP00000706417
resolver
ensp
ENSP00000706419
resolver
ensp
ENSP00000740691
resolver
ensp
ENSP00000740692
resolver
enst
ENST00000679622
resolver
enst
ENST00000679668
resolver
enst
ENST00000679925
resolver
enst
ENST00000679943
resolver
enst
ENST00000680840
resolver
enst
ENST00000681670
resolver
genesymbol
AHI-1
resolver
genesymbol
AHI1
resolver
hgnc
HGNC:21575
resolver
uniprot
A0A7P0T7Z8
resolver
uniprot
A0A7P0T959
resolver
uniprot
A0A7P0T9M6
resolver
uniprot
A0A7P0T9Q2
resolver
uniprot
E1P584
resolver
uniprot
Q4FD35
resolver
uniprot
Q504T3
resolver
uniprot
Q5TCP9
resolver
uniprot
Q6P098
resolver
uniprot
Q6PIT6
resolver
uniprot
Q8NDX0
resolver
uniprot
Q8NER0
resolver
uniprot
Q9H0H2
resolver
uniprot_entry
A0A7P0T7Z8_HUMAN
resolver
uniprot_entry
A0A7P0T959_HUMAN
resolver
uniprot_entry
A0A7P0T9M6_HUMAN
resolver
uniprot_entry
A0A7P0T9Q2_HUMAN
resolver
uniprot_entry
AHI1_HUMAN
resolver
uniprot_entry
Q8NER0_HUMAN
resolver
uniprot_sec
E1P584
resolver
uniprot_sec
Q4FD35
resolver
uniprot_sec
Q504T3
resolver
uniprot_sec
Q5TCP9
resolver
uniprot_sec
Q6P098
resolver
uniprot_sec
Q6PIT6
resolver
uniprot_sec
Q8NDX0
resolver
uniprot_sec
Q9H0H2
resolver
amino_acid_sequence
MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETTSDDPDTIRSNLPHIKETTSDDVSAANTNNLKKSTRVTKNKLRNTQLATENPNGDASVEEDKQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREETDLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLFHDDKLSSEKRKKKKEVPVFSKAETSTLTISGDTVEGEQKKESSVRSVSSDSHQDDEISSMEQSTEDSMQDDTKPKPKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFMISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEWEEQIVFNENFPYLLRGSDESPKVILFFEILDFLSVDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVPDCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQACRIPNKHLFSLNAGERGCFCLDFSHNGRILAAACASRDGYPIILYEIPSGRFMRELCGHLNIIYDLSWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDSMIRIWKVEMREDSAILVRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDLEHSVHHWTINKEIKETEFKGIPISYLEIHPNGKRLLIHTKDSTLRIMDLRILVARKFVGAANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFENMVAFCAFGQNEPILLYIYDFHVAQQEAEMFKRYNGTFPLPGIHQSQDALCTCPKLPHQGSFQIDEFVHTESSSTKMQLVKQRLETVTEVIRSCAAKVNKNLSFTSPPAVSSQQSKLKQSNMLTAQEILHQFGFTQTGIISIERKPCNHQVDTAPTVVALYDYTANRSDELTIHRGDIIRVFFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPPLSPEEKTKIEKSPAPQKQSINKNKSQDFRLGSESMTHSEMRKEQSHEDQGHIMDTRMRKNKQAGRKVTLIE
uniprot
proteins
disease_involvement
DISEASE: Joubert syndrome 3 (JBTS3) [MIM:608629]: 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 and renal disease. Joubert syndrome type 3 shows minimal extra central nervous system involvement and appears not to be associated with renal dysfunction. {ECO:0000269|PubMed:15322546, ECO:0000269|PubMed:15467982, ECO:0000269|PubMed:16155189, ECO:0000269|PubMed:16453322, ECO:0000269|PubMed:21623382, ECO:0000269|PubMed:23532844}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in neuronal differentiation. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development (PubMed:21623382). {ECO:0000250|UniProtKB:Q8K3E5, ECO:0000269|PubMed:21623382}.
uniprot
proteins
mass_dalton
137115
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14751929
uniprot
proteins
pubmed
15169551
uniprot
proteins
pubmed
15322546
uniprot
proteins
pubmed
15467982
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16155189
uniprot
proteins
pubmed
16453322
uniprot
proteins
pubmed
18633336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21623382
uniprot
proteins
pubmed
22425360
uniprot
proteins
pubmed
22623184
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23532844
uniprot
proteins
sequence_length
1196
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:21623382, ECO:0000269|PubMed:23532844}. Cell junction, adherens junction {ECO:0000269|PubMed:18633336, ECO:0000269|PubMed:23532844}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000250|UniProtKB:Q8K3E5}. Note=In the retinal photoreceptor cell layer, localizes at the connecting cilium. {ECO:0000250|UniProtKB:Q8K3E5}.
uniprot
proteins