K1549_MOUSE
ID K1549_MOUSE Reviewed; 1940 AA.
AC Q68FD9; Q6ZPN1;
DT 01-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 3.
DT 03-AUG-2022, entry version 93.
DE RecName: Full=UPF0606 protein KIAA1549;
GN Name=Kiaa1549;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 214-1940.
RC STRAIN=C57BL/6J; TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 938-1753.
RC TISSUE=Embryonic tail;
RX PubMed=14621295; DOI=10.1093/dnares/10.4.167;
RA Okazaki N., Kikuno R., Ohara R., Inamoto S., Koseki H., Hiraoka S.,
RA Saga Y., Nagase T., Ohara O., Koga H.;
RT "Prediction of the coding sequences of mouse homologues of KIAA gene: III.
RT The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs
RT identified by screening of terminal sequences of cDNA clones randomly
RT sampled from size-fractionated libraries.";
RL DNA Res. 10:167-180(2003).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Brain;
RX PubMed=16452087; DOI=10.1074/mcp.t500041-mcp200;
RA Trinidad J.C., Specht C.G., Thalhammer A., Schoepfer R., Burlingame A.L.;
RT "Comprehensive identification of phosphorylation sites in postsynaptic
RT density preparations.";
RL Mol. Cell. Proteomics 5:914-922(2006).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1377; SER-1384; SER-1543;
RP SER-1544; THR-1611 AND SER-1613, AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RC TISSUE=Brain;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [6]
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=30120214; DOI=10.1136/jmedgenet-2018-105364;
RA de Bruijn S.E., Verbakel S.K., de Vrieze E., Kremer H., Cremers F.P.M.,
RA Hoyng C.B., van den Born L.I., Roosing S.;
RT "Homozygous variants in KIAA1549, encoding a ciliary protein, are
RT associated with autosomal recessive retinitis pigmentosa.";
RL J. Med. Genet. 55:705-712(2018).
CC -!- FUNCTION: May play a role in photoreceptor function.
CC {ECO:0000250|UniProtKB:Q9HCM3}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}. Cell projection, cilium
CC {ECO:0000269|PubMed:30120214}. Note=In the retinal photoreceptor cells,
CC localizes at the connecting cilium, a thin bridge linking the cell body
CC and the light-sensing outer segment. {ECO:0000269|PubMed:30120214}.
CC -!- TISSUE SPECIFICITY: Expressed in retina photoreceptor cells (at protein
CC level). {ECO:0000269|PubMed:30120214}.
CC -!- PTM: O-glycosylated. O-mannosylated by POMT1 and POMT2 and elongated by
CC POMGNT1. {ECO:0000250|UniProtKB:Q9HCM3}.
CC -!- SIMILARITY: Belongs to the UPF0606 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC98200.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
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DR EMBL; AC125530; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC157667; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC079889; AAH79889.1; -; mRNA.
DR EMBL; AK129390; BAC98200.1; ALT_SEQ; mRNA.
DR CCDS; CCDS51749.1; -.
DR RefSeq; NP_918950.2; NM_194061.2.
DR AlphaFoldDB; Q68FD9; -.
DR BioGRID; 236936; 6.
DR IntAct; Q68FD9; 1.
DR MINT; Q68FD9; -.
DR STRING; 10090.ENSMUSP00000130121; -.
DR GlyConnect; 2814; 1 N-Linked glycan (2 sites).
DR GlyGen; Q68FD9; 2 sites, 1 N-linked glycan (2 sites).
DR iPTMnet; Q68FD9; -.
DR PhosphoSitePlus; Q68FD9; -.
DR MaxQB; Q68FD9; -.
DR PaxDb; Q68FD9; -.
DR PRIDE; Q68FD9; -.
DR Antibodypedia; 9863; 27 antibodies from 12 providers.
DR Ensembl; ENSMUST00000169256; ENSMUSP00000130121; ENSMUSG00000063455.
DR GeneID; 330286; -.
DR KEGG; mmu:330286; -.
DR UCSC; uc009bjt.2; mouse.
DR MGI; MGI:2669829; D630045J12Rik.
DR VEuPathDB; HostDB:ENSMUSG00000063455; -.
DR eggNOG; ENOG502QT4E; Eukaryota.
DR GeneTree; ENSGT00530000063472; -.
DR InParanoid; Q68FD9; -.
DR OMA; SLFHTFR; -.
DR OrthoDB; 33154at2759; -.
DR PhylomeDB; Q68FD9; -.
DR TreeFam; TF332690; -.
DR BioGRID-ORCS; 330286; 1 hit in 74 CRISPR screens.
DR ChiTaRS; D630045J12Rik; mouse.
DR PRO; PR:Q68FD9; -.
DR Proteomes; UP000000589; Chromosome 6.
DR RNAct; Q68FD9; protein.
DR Bgee; ENSMUSG00000063455; Expressed in molar tooth and 191 other tissues.
DR ExpressionAtlas; Q68FD9; baseline and differential.
DR Genevisible; Q68FD9; MM.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0032391; C:photoreceptor connecting cilium; IDA:UniProtKB.
DR InterPro; IPR024606; DUF3827.
DR PANTHER; PTHR21590; PTHR21590; 1.
DR Pfam; PF12877; DUF3827; 1.
PE 1: Evidence at protein level;
KW Cell projection; Membrane; Phosphoprotein; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..1940
FT /note="UPF0606 protein KIAA1549"
FT /id="PRO_0000342406"
FT TRANSMEM 988..1008
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1288..1308
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 788..917
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1362..1451
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1579..1599
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1695..1782
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1863..1915
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 808..840
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 849..899
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1409..1423
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1695..1739
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1898..1912
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 1377
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21183079"
FT MOD_RES 1384
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21183079"
FT MOD_RES 1543
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21183079"
FT MOD_RES 1544
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21183079"
FT MOD_RES 1611
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:21183079"
FT MOD_RES 1613
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21183079"
SQ SEQUENCE 1940 AA; 209221 MW; 5A8E600A9F3F4C22 CRC64;
MEREPRARVA LVPERCGRGP SSRHRRPGLL LPGLWLLLLA GPASCAPDDL SLAQHSHPVR
PSDFLPERSI LHSAAQVTLS ETVPRSQPSI SALVLSSPSA TAFDTAFLSQ RQQTQSTAEP
SFFEANYGSV TSNEVALDDE EMDNFLPDAH WTSSRGVSPM RYITPSPPEP PQEMLEPGTT
PSLPTISLPD EVLSGCQNTV QQATVYVEPS TYFGTSWSAF LTSEGIIPTP SRNSVLHPIE
IHSQLSSKAL PETVASVTEG AENLLFSSRI SVSQPSGNGM TQQPSVPLWE VSQPLVGVLA
TSSDRYPNET TAWIEHPEEA IALRAHPGIT TSPTDPTFSS QPSALFSTPL SSVSFATQLP
GVSEDSFLSS EARGALESWH SSPVPSFTDH PYVLSPESSL RPHTGCVSCV VSSFQQELAR
SLTEKDMGSG DRLETLSTAS VEASHVSPLS SVGTDLSELE EPQEFNTLFP SRPVFSFSSR
PVGLWKASMD VSPEVDVSGI AITQVYPSHG RLSTPSSLDS TFGFSVTSDL VMSSSMIHLL
SSVIPSTHFD SSFSLTANQN SPSFPAGKPS LLTSPSLVPS AQSSAFSHGA PTSSLELQSG
SRLDFTSGFY STPPLDFSTP APSRSDELAF PSLMSSDPST FFSQTFSTMA ETFSLSNSMN
LQSPQLSVLN PTSLEPSQPQ SSADLLLNTV TVLPSPPERP PLSSSPSDSL EFTEVSRVSL
RESHVHLTSA FSETTSAFEF SPIPHESTIS TLVPSSSEPS LGIYAAGTHL TSLPTTVFHL
TPILTESSPF STLTPSDGSV RVTDHHTPVL PTPSSVIPSS TESISDPYLS ASSSLVSEVS
PSPPPTKPVM GSSLTSTDFP PSTSPELSTS LELSMPSAST APGDTVDSAL NSEPMSQNPQ
GNSVPPPQPS LGPATTSTLE ATVGTPALAT AKPPYVCDIT VPDVYLITTV LARRAVQEYI
ITSIKEVLRI HFNRAVELKV YELFTDFTFL VTSGPFVYTA ISVINVLINS KLVRGQTPLI
LSVKPSFLVP DPRFQVQTVL QFVPPSVDTG FCNFTQSIEK GLVTALFEVR KHQGTYNLTV
QIVNVTIASS RVAPRRGPVN IIFAVKGSQG FLNGSEVSDL LRNLTVVEFS FYLGYPVLQI
AEPFQYPQLN LSQLLKSSWV RTVLLGVVEK QLHNEVFPAE MERKLAQLLS EVPTRRRVWR
RATVAAGNSV VQVVNVSRLE GDDNPVQLIY FVENQDGERL SAVKSSDLIN KVDLQRAAII
LGYRIQGVIA QPVDRVKRPS PESQSNNLWV VVGVVIPVLV VTVIVVILYW KLCRTDKLDF
QPDTVANIQQ RQKLQIPSVK GFDFAKQHLG QHNKDDILII HEPAPLPGPV KDHTTPSENG
DVPSPKSKLP SKNIRLRGRV SPSDADSTVS EESSERDAGE KAPAAAPENK ALRAPQSGAP
LPSSGNEQHS SASIFEHVDR VSRTSEASRR VPSKIQLIAM QPIPAPPAQH PVLADRVAET
NKINKEIQSA LRHKSEIEHH RNKIRLRAKR RGHYEFPVVD DLSSGDTKER HRVYRRAQMQ
IDKILDPAAS VPSVFIEPRK SSRMKRSPKP RRKHQVNGCP ADAEKDRLIT TDSDGTYKRP
PGVHNSAYIG CPSDPDLPAD VQTPSSTELG RYPGLPFSAS QYIPPQPSIE EARQTMHSLL
DDAFALVAPS SQPTNAMGAG TGVPASLPVN STPSREERRA TQWGSFYSPA QTANNPCSRY
EDYGMTPPSG PLPSRPSFGP GLLPSSELVP PEPPQPQSST DAPYAARGIY SEEMPSVARP
RPVGGTTGSQ IQHLTQVGIA SRIGAQPVEI PAGRGSQYGG PGWPVYGEEE AGRREATHML
GHQEYSSSPL FQVPRTSGRE PSAPPGNLAH RGLQGPGLGY PTSSTEDLQP GHSSASLIKA
IREELLRLSQ KQGSVQNFHS
