ANKS6
entrez
203286
canonical
uniprot
Q68DC2
canonical
ensembl
ENSG00000165138
resolver
ensp
ENSP00000297837
resolver
genesymbol
ANKS6
resolver
genesymbol_syn
ANKRD14
resolver
genesymbol_syn
PKDR1
resolver
genesymbol_syn
SAMD6
resolver
hgnc
HGNC:26724
resolver
uniprot
A0SE62
resolver
uniprot
B3KXP1
resolver
uniprot
Q5VSL0
resolver
uniprot
Q5VSL2
resolver
uniprot
Q5VSL3
resolver
uniprot
Q5VSL4
resolver
uniprot
Q68DB8
resolver
uniprot
Q6P2R2
resolver
uniprot
Q8N9L6
resolver
uniprot
Q96D62
resolver
uniprot_entry
ANKS6_HUMAN
resolver
uniprot_entry
B3KXP1_HUMAN
resolver
uniprot_sec
A0SE62
resolver
uniprot_sec
Q5VSL0
resolver
uniprot_sec
Q5VSL2
resolver
uniprot_sec
Q5VSL3
resolver
uniprot_sec
Q5VSL4
resolver
uniprot_sec
Q68DB8
resolver
uniprot_sec
Q6P2R2
resolver
uniprot_sec
Q8N9L6
resolver
uniprot_sec
Q96D62
resolver
amino_acid_sequence
MGEGGLPPAFQLLLRACDQGDTETARRLLEPGAAEPAERGAEPEAGAEPAGAEVAGPGAAAAGAVGAPVPVDCSDEAGNTALQFAAAGGHEPLVRFLLRRGASVNSRNHYGWSALMQAARFGHVSVAHLLLDHGADVNAQNRLGASVLTVASRGGHLGVVKLLLEAGAFVDHHHPSGEQLGLGGSRDEPLDITALMAAIQHGHEAVVRLLMEWGADPNHAARTVGWSPLMLAALTGRLGVAQQLVEKGANPDHLSVLEKTAFEVALDCKHRDLVDYLDPLTTVRPKTDEEKRRPDIFHALKMGNFQLVKEIADEDPSHVNLVNGDGATPLMLAAVTGQLALVQLLVERHADVDKQDSVHGWTALMQATYHGNKEIVKYLLNQGADVTLRAKNGYTAFDLVMLLNDPDTELVRLLASVCMQVNKDKGRPSHQPPLPHSKVRQPWSIPVLPDDKGGLKSWWNRMSNRFRKLKLMQTLPRGLSSNQPLPFSDEPEPALDSTMRAAPQDKTSRSALPDAAPVTKDNGPGSTRGEKEDTLLTTMLRNGAPLTRLPSDKLKAVIPPFLPPSSFELWSSDRSRTRHNGKADPMKTALPQRASRGHPVGGGGTDTTPVRPVKFPSLPRSPASSANSGNFNHSPHSSGGSSGVGVSRHGGELLNRSGGSIDNVLSQIAAQRKKAAGLLEQKPSHRSSPVGPAPGSSPSELPASPAGGSAPVGKKLETSKRPPSGTSTTSKSTSPTLTPSPSPKGHTAESSVSSSSSHRQSKSSGGSSSGTITDEDELTGILKKLSLEKYQPIFEEQEVDMEAFLTLTDGDLKELGIKTDGSRQQILAAISELNAGKGRERQILQETIHNFHSSFESSASNTRAPGNSPCA
uniprot
proteins
disease_involvement
DISEASE: Nephronophthisis 16 (NPHP16) [MIM:615382]: A form of nephronophthisis, a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis. {ECO:0000269|PubMed:23793029}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for renal function. {ECO:0000269|PubMed:23793029}.
uniprot
proteins
mass_dalton
92219
uniprot
proteins
mutagenesis
MUTAGEN 798; /note="E->K: Loss of interaction with ANKS3."; /evidence="ECO:0000269|PubMed:24998259"; MUTAGEN 811; /note="D->K: Loss of interaction with ANKS3."; /evidence="ECO:0000269|PubMed:24998259"; MUTAGEN 823; /note="R->W: Loss of interaction with ANKS3."; /evidence="ECO:0000269|PubMed:24998259
uniprot
proteins
post_translational_modification
PTM: Hydroxylated at Asn-138, most probably by HIF1AN. This hydroxylation results in decreased NEK8-binding. {ECO:0000250|UniProtKB:P0C0T2}.
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16207829
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18434273
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23793029
uniprot
proteins
pubmed
24998259
uniprot
proteins
pubmed
26967905
uniprot
proteins
sequence_length
871
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250|UniProtKB:Q6GQX6}. Cytoplasm {ECO:0000250|UniProtKB:P0C0T2}. Note=Localizes to the proximal region of the primary cilium in the presence of INVS. {ECO:0000250|UniProtKB:Q6GQX6}.
uniprot
proteins