KIAA1549
entrez
57670
canonical
uniprot
Q9HCM3
canonical
ensembl
ENSG00000122778
resolver
ensp
ENSP00000406661
resolver
ensp
ENSP00000416040
resolver
genesymbol
KIAA1549
resolver
hgnc
HGNC:22219
resolver
uniprot
B6HY55
resolver
uniprot
B6HY56
resolver
uniprot
B6HY58
resolver
uniprot
B6HY60
resolver
uniprot
B6HY61
resolver
uniprot
B6HY62
resolver
uniprot
B6HY63
resolver
uniprot
B6HY64
resolver
uniprot
B6HY65
resolver
uniprot
B6HY66
resolver
uniprot
Q5BJD6
resolver
uniprot
Q8IY15
resolver
uniprot
Q9H0M3
resolver
uniprot_entry
K1549_HUMAN
resolver
uniprot_sec
B6HY55
resolver
uniprot_sec
B6HY56
resolver
uniprot_sec
B6HY58
resolver
uniprot_sec
B6HY60
resolver
uniprot_sec
B6HY61
resolver
uniprot_sec
B6HY62
resolver
uniprot_sec
B6HY63
resolver
uniprot_sec
B6HY64
resolver
uniprot_sec
B6HY65
resolver
uniprot_sec
B6HY66
resolver
uniprot_sec
Q5BJD6
resolver
uniprot_sec
Q8IY15
resolver
uniprot_sec
Q9H0M3
resolver
amino_acid_sequence
MPGARRRRRGAAMEGKPRAGVALAPGPSGRRPSARCARRRRPGLLLPGLWLLLLARPASCAPDELSPEQHNLSLYSMELVLKKSTGHSAAQVALTETAPGSQHSSPLHVTAPPSATTFDTAFFNQGKQTKSTADPSIFVATYVSVTSKEVAVNDDEMDNFLPDTHWTTPRMVSPIQYITVSPPGLPREALEPMLTPSLPMVSLQDEEVTSGWQNTTRQPAAYAESASHFHTFRSAFRTSEGIVPTPGRNLVLYPTDAYSHLSSRTLPEIVASLTEGVETTLFLSSRSLMPQPLGDGITIPLPSLGEVSQPPEEVWATSADRYTDVTTVLSQSLEETISPRTYPTVTASHAALAFSRTHSPLLSTPLAFASSASPTDVSSNPFLPSDSSKTSELHSNSALPGPVDNTHILSPVSSFRPYTWCAACTVPSPQQVLATSLMEKDVGSGDGAETLCMTVLEESSISLMSSVVADFSEFEEDPQVFNTLFPSRPIVPLSSRSMEISETSVGISAEVDMSSVTTTQVPPAHGRLSVPASLDPTAGSLSVAETQVTPSSVTTAFFSVITSILLDSSFSVIANKNTPSLAVRDPSVFTPYSLVPSVESSLFSDQERSSFSEHKPRGALDFASSFFSTPPLELSGSISSPSEAPASLSLMPSDLSPFTSQSFSPLVETFTLFDSSDLQSSQLSLPSSTNLEFSQLQPSSELPLNTIMLLPSRSEVSPWSSFPSDSLEFVEASTVSLTDSEAHFTSAFIETTSYLESSLISHESAVTALVPPGSESFDILTAGIQATSPLTTVHTTPILTESSLFSTLTPPDDQISALDGHVSVLASFSKAIPTGTVLITDAYLPSGSSFVSEATPFPLPTELTVVGPSLTPTEVPLNTSTEVSTTSTGAATGGPLDSTLMGDAASQSPPESSAAPPLPSLRPVTAFTLEATVDTPTLATAKPPYVCDITVPDAYLITTVLARRAVQEYIITAIKEVLRIHFNRAVELKVYELFTDFTFLVTSGPFVYTAISVINVLINSKLVRDQTPLILSVKPSFLVPESRFQVQTVLQFVPPSVDTGFCNFTQRIEKGLMTALFEVRKHHQGTYNLTVQILNITISSSRVTPRRGPVNIIFAVKSTQGFLNGSEVSELLRNLSVVEFSFYLGYPVLQIAEPFQYPQLNLSQLLKSSWVRTVLLGVMEKQLQNEVFQAEMERKLAQLLSEVSTRRRMWRRATVAAGNSVVQVVNVSRLEGDDNPVQLIYFVEDQDGERLSAVKSSDLINKMDLQRAAIILGYRIQGVIAQPVDRVKRPSPESQSNNLWVIVGVVIPVLVVMVIVVILYWKLCRTDKLDFQPDTVANIQQRQKLQIPSVKGFDFAKQHLGQHNKDDILIIHEPAPLPGPLKDHTTPSENGDVPSPKSKIPSKNVRHRGRVSPSDADSTVSEESSERDAGDKTPGAVNDGRSHRAPQSGPPLPSSGNEQHSSASIFEHVDRISRPPEASRRVPSKIQLIAMQPIPAPPVQRPSPADRVAESNKINKEIQTALRHKSEIEHHRNKIRLRAKRRGHYEFPVVDDLSSGDTKERHRVYRRAQMQIDKILDPTASVPSVFIEPRKSSRIKRSPKPRRKHQVNGCPADAEKDRLITTDSDGTYRRPPGVHNSAYIGCPSDPDLPADVQTPSSVELGRYPALPFPASQYIPPQPSIEEARQTMHSLLDDAFALVAPSSQPASTAGVGPGVPPGLPANSTPSQEERRATQWGSFYSPAQTANNPCSRYEDYGMTPPTGPLPRPGFGPGLLQSTELVPPDPQQPQASAEAPFAARGIYSEEMPSVARPRPVGGTTGSQIQHLTQVGIASRIGAQPVEIPPSRGSQYGGPGWPSYGEDEAGRREATHMLGHQEYSSSPLFQVPRTSGREPSAPSGNLPHRGLQGPGLGYPTSSTEDLQPGHSSASLIKAIREELLRLSQKQSTVQNFHS
uniprot
proteins
disease_involvement
DISEASE: Retinitis pigmentosa 86 (RP86) [MIM:618613]: A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP86 is an autosomal recessive form. {ECO:0000269|PubMed:30120214}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=A chromosomal aberration involving KIAA1549 is found in pilocytic astrocytoma. A tandem duplication of 2 Mb at 7q34 leads to the expression of a KIAA1549-BRAF fusion protein with a constitutive kinase activity and inducing cell transformation. {ECO:0000269|PubMed:18974108}.
uniprot
proteins
function
FUNCTION: May play a role in photoreceptor function. {ECO:0000269|PubMed:30120214}.
uniprot
proteins
mass_dalton
210755
uniprot
proteins
post_translational_modification
PTM: O-glycosylated. O-mannosylated by POMT1 and POMT2 and elongated by POMGNT1. {ECO:0000269|PubMed:28512129}.
uniprot
proteins
protein_family
UPF0606 family
uniprot
proteins
pubmed
10997877
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18974108
uniprot
proteins
pubmed
28512129
uniprot
proteins
pubmed
30120214
uniprot
proteins
sequence_length
1950
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cell projection, cilium {ECO:0000250|UniProtKB:Q68FD9}. Note=In the retinal photoreceptor cells, localizes at the connecting cilium, a thin bridge linking the cell body and the light-sensing outer segment. {ECO:0000250|UniProtKB:Q68FD9}.
uniprot
proteins
transmembrane_region
TRANSMEM 998..1018; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1299..1319; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins