GenomeNet

Database: UniProt
Entry: Q8K135
LinkDB: Q8K135
Original site: Q8K135 
ID   K319L_MOUSE             Reviewed;        1048 AA.
AC   Q8K135; A2A790; Q3TTA3; Q8BHR5; Q8BHU7; Q8BHZ3; Q8VBZ9;
DT   08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT   01-OCT-2002, sequence version 1.
DT   06-JUL-2016, entry version 113.
DE   RecName: Full=Dyslexia-associated protein KIAA0319-like protein {ECO:0000250|UniProtKB:Q8IZA0};
DE   AltName: Full=Adeno-associated virus receptor {ECO:0000250|UniProtKB:Q8IZA0};
DE            Short=AAVR {ECO:0000250|UniProtKB:Q8IZA0};
GN   Name=Kiaa0319l {ECO:0000250|UniProtKB:Q8IZA0};
GN   Synonyms=Aavr {ECO:0000303|PubMed:26814968};
OS   Mus musculus (Mouse).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi;
OC   Muroidea; Muridae; Murinae; Mus; Mus.
OX   NCBI_TaxID=10090;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC   STRAIN=C57BL/6J, and NOD;
RC   TISSUE=Brain, Cerebellum, Embryo, Embryonic heart, and Testis;
RX   PubMed=16141072; DOI=10.1126/science.1112014;
RA   Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA   Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA   Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M.,
RA   Davis M.J., Wilming L.G., Aidinis V., Allen J.E.,
RA   Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L.,
RA   Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M.,
RA   Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R.,
RA   Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G.,
RA   di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G.,
RA   Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M.,
RA   Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA   Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N.,
RA   Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T.,
RA   Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H.,
RA   Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K.,
RA   Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J.,
RA   Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L.,
RA   Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K.,
RA   Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P.,
RA   Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O.,
RA   Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G.,
RA   Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M.,
RA   Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA   Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA   Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B.,
RA   Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K.,
RA   Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A.,
RA   Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K.,
RA   Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C.,
RA   Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J.,
RA   Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y.,
RA   Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T.,
RA   Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N.,
RA   Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N.,
RA   Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S.,
RA   Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J.,
RA   Hayashizaki Y.;
RT   "The transcriptional landscape of the mammalian genome.";
RL   Science 309:1559-1563(2005).
RN   [2]
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.,
RA   She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W.,
RA   Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T.,
RA   Zhou S., Teague B., Potamousis K., Churas C., Place M., Herschleb J.,
RA   Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z.,
RA   Lindblad-Toh K., Eichler E.E., Ponting C.P.;
RT   "Lineage-specific biology revealed by a finished genome assembly of
RT   the mouse.";
RL   PLoS Biol. 7:E1000112-E1000112(2009).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   STRAIN=FVB/N; TISSUE=Kidney, and Liver;
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
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [4]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1008, AND IDENTIFICATION
RP   BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Brain, Kidney, Pancreas, and Testis;
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
RT   expression.";
RL   Cell 143:1174-1189(2010).
RN   [5]
RP   DISRUPTION PHENOTYPE, AND FUNCTION (MICROBIAL INFECTION).
RX   PubMed=26814968; DOI=10.1038/nature16465;
RA   Pillay S., Meyer N.L., Puschnik A.S., Davulcu O., Diep J.,
RA   Ishikawa Y., Jae L.T., Wosen J.E., Nagamine C.M., Chapman M.S.,
RA   Carette J.E.;
RT   "An essential receptor for adeno-associated virus infection.";
RL   Nature 530:108-112(2016).
CC   -!- FUNCTION: Possible role in axon guidance through interaction with
CC       RTN4R. {ECO:0000250|UniProtKB:Q8IZA0}.
CC   -!- FUNCTION: (Microbial infection) Acts as a receptor for adeno-
CC       associated virus and is involved in adeno-associated virus
CC       infection through endocytosis system.
CC       {ECO:0000305|PubMed:26814968}.
CC   -!- SUBUNIT: Interacts with RTN4R. {ECO:0000250|UniProtKB:Q8IZA0}.
CC   -!- SUBCELLULAR LOCATION: Cytoplasmic granule membrane
CC       {ECO:0000250|UniProtKB:Q8IZA0}; Multi-pass membrane protein
CC       {ECO:0000250|UniProtKB:Q8IZA0}. Golgi apparatus membrane
CC       {ECO:0000250|UniProtKB:Q8IZA0}; Multi-pass membrane protein. Golgi
CC       apparatus, trans-Golgi network membrane
CC       {ECO:0000250|UniProtKB:Q8IZA0}; Multi-pass membrane protein
CC       {ECO:0000250|UniProtKB:Q8IZA0}. Cell membrane
CC       {ECO:0000250|UniProtKB:Q8IZA0}; Multi-pass membrane protein
CC       {ECO:0000250|UniProtKB:Q8IZA0}. Note=Traffics from the plasma
CC       membrane to the trans-Golgi network.
CC       {ECO:0000250|UniProtKB:Q8IZA0}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q8K135-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8K135-2; Sequence=VSP_032956;
CC         Note=No experimental confirmation available.;
CC   -!- PTM: N-glycosylated. {ECO:0000250}.
CC   -!- DISRUPTION PHENOTYPE: Homozygous knockout mice Kiaa0319l are
CC       normal. {ECO:0000269|PubMed:26814968}.
CC   -!- SIMILARITY: Contains 1 MANSC domain. {ECO:0000255|PROSITE-
CC       ProRule:PRU00341}.
CC   -!- SIMILARITY: Contains 5 PKD domains. {ECO:0000255|PROSITE-
CC       ProRule:PRU00151}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH22154.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};
DR   EMBL; AK043006; BAC31432.1; -; mRNA.
DR   EMBL; AK049570; BAC33818.1; -; mRNA.
DR   EMBL; AK084668; BAC39244.1; -; mRNA.
DR   EMBL; AK147569; BAE27999.1; -; mRNA.
DR   EMBL; AK161493; BAE36422.1; -; mRNA.
DR   EMBL; AK170261; BAE41669.1; -; mRNA.
DR   EMBL; AL606908; CAM19269.1; -; Genomic_DNA.
DR   EMBL; AL606908; CAM19270.1; -; Genomic_DNA.
DR   EMBL; BC022154; AAH22154.1; ALT_SEQ; mRNA.
DR   EMBL; BC028869; AAH28869.1; -; mRNA.
DR   CCDS; CCDS18660.1; -. [Q8K135-2]
DR   CCDS; CCDS18661.1; -. [Q8K135-1]
DR   RefSeq; NP_001030602.1; NM_001035525.1.
DR   RefSeq; NP_001030603.1; NM_001035526.1.
DR   RefSeq; NP_598647.1; NM_133886.2. [Q8K135-1]
DR   UniGene; Mm.206206; -.
DR   ProteinModelPortal; Q8K135; -.
DR   SMR; Q8K135; 599-687.
DR   STRING; 10090.ENSMUSP00000099667; -.
DR   iPTMnet; Q8K135; -.
DR   PhosphoSite; Q8K135; -.
DR   SwissPalm; Q8K135; -.
DR   EPD; Q8K135; -.
DR   MaxQB; Q8K135; -.
DR   PaxDb; Q8K135; -.
DR   PeptideAtlas; Q8K135; -.
DR   PRIDE; Q8K135; -.
DR   Ensembl; ENSMUST00000047431; ENSMUSP00000037802; ENSMUSG00000028830. [Q8K135-1]
DR   GeneID; 100317; -.
DR   KEGG; mmu:100317; -.
DR   UCSC; uc008utw.1; mouse. [Q8K135-1]
DR   MGI; MGI:2140475; AU040320.
DR   eggNOG; ENOG410IFQB; Eukaryota.
DR   eggNOG; ENOG410XQ5Y; LUCA.
DR   GeneTree; ENSGT00840000129825; -.
DR   HOVERGEN; HBG057130; -.
DR   InParanoid; Q8K135; -.
DR   OrthoDB; EOG79PJNJ; -.
DR   PhylomeDB; Q8K135; -.
DR   TreeFam; TF323356; -.
DR   PRO; PR:Q8K135; -.
DR   Proteomes; UP000000589; Chromosome 4.
DR   Bgee; Q8K135; -.
DR   ExpressionAtlas; Q8K135; baseline and differential.
DR   Genevisible; Q8K135; MM.
DR   GO; GO:0031410; C:cytoplasmic vesicle; ISS:UniProtKB.
DR   GO; GO:0070062; C:extracellular exosome; ISO:MGI.
DR   GO; GO:0000139; C:Golgi membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR   Gene3D; 2.60.40.670; -; 2.
DR   InterPro; IPR029865; KIAA0319-like.
DR   InterPro; IPR013980; MANSC_dom.
DR   InterPro; IPR022409; PKD/Chitinase_dom.
DR   InterPro; IPR000601; PKD_dom.
DR   PANTHER; PTHR10083:SF166; PTHR10083:SF166; 1.
DR   SMART; SM00089; PKD; 5.
DR   SUPFAM; SSF49299; SSF49299; 4.
DR   PROSITE; PS50986; MANSC; 1.
DR   PROSITE; PS50093; PKD; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Cell membrane; Complete proteome; Glycoprotein;
KW   Golgi apparatus; Membrane; Phosphoprotein; Reference proteome; Repeat;
KW   Transmembrane; Transmembrane helix.
FT   CHAIN         1   1048       Dyslexia-associated protein KIAA0319-like
FT                                protein.
FT                                /FTId=PRO_0000329065.
FT   TOPO_DOM      1     29       Cytoplasmic. {ECO:0000255}.
FT   TRANSMEM     30     50       Helical. {ECO:0000255}.
FT   TOPO_DOM     51    928       Extracellular. {ECO:0000255}.
FT   TRANSMEM    929    949       Helical. {ECO:0000255}.
FT   TOPO_DOM    950   1048       Cytoplasmic. {ECO:0000255}.
FT   DOMAIN       49    127       MANSC. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00341}.
FT   DOMAIN      309    400       PKD 1. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00151}.
FT   DOMAIN      408    497       PKD 2. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00151}.
FT   DOMAIN      503    593       PKD 3. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00151}.
FT   DOMAIN      599    687       PKD 4. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00151}.
FT   DOMAIN      693    784       PKD 5. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00151}.
FT   MOD_RES     973    973       Phosphothreonine.
FT                                {ECO:0000250|UniProtKB:Q8IZA0}.
FT   MOD_RES     977    977       Phosphoserine.
FT                                {ECO:0000250|UniProtKB:Q8IZA0}.
FT   MOD_RES    1008   1008       Phosphoserine.
FT                                {ECO:0000244|PubMed:21183079}.
FT   MOD_RES    1030   1030       Phosphoserine.
FT                                {ECO:0000250|UniProtKB:Q8IZA0}.
FT   MOD_RES    1036   1036       Phosphothreonine.
FT                                {ECO:0000250|UniProtKB:Q8IZA0}.
FT   CARBOHYD    246    246       N-linked (GlcNAc...). {ECO:0000255}.
FT   CARBOHYD    394    394       N-linked (GlcNAc...). {ECO:0000255}.
FT   VAR_SEQ    1025   1048       YGQNGSVPNGQTPLKSRSAREEIL -> ALHWCRSQSLHHI
FT                                GWWCRAPVCHETSSTNSTPGSDSGFCKGGKNLSSDYRTRTK
FT                                SALVHGK (in isoform 2).
FT                                {ECO:0000303|PubMed:16141072}.
FT                                /FTId=VSP_032956.
FT   CONFLICT      4      4       R -> G (in Ref. 1; BAC39244).
FT                                {ECO:0000305}.
FT   CONFLICT    579    579       Missing (in Ref. 1; BAE36422).
FT                                {ECO:0000305}.
FT   CONFLICT    656    656       G -> V (in Ref. 1; BAC33818).
FT                                {ECO:0000305}.
FT   CONFLICT    684    684       V -> A (in Ref. 1; BAC33818).
FT                                {ECO:0000305}.
SQ   SEQUENCE   1048 AA;  115312 MW;  F4D51DD6DE4C889D CRC64;
     MEKRLGVKPS PASWVLPGYC WQTSVKLPRS LYLLYSFFCF SVLWLSTDAD ESRCQQGKTL
     YGAGLRTEGE NHLRLLAGSL PFHACRAACC RDSACHALWW LEGMCFQADC SKPQSCQPFR
     TDSSNSMLII FQKSQTTDDL GLLPEDDEPH LLRLGWGRTS WRRQSLLGAP LTLSVPSSHH
     QSLLRDRQKR DLSVVPTHGA MQHSKVNHSE EAGALSPTSA EVRKTITVAG SFTSNHTTQT
     PEWPKNVSIH PEPSEHSSPV SGTPQVKSTE HSPTDAPLPV APSYSYATPT PQASSQSTSA
     PHPVVKELVV SAGKSVQITL PKNEVQLNAF VLPEAEPGET YTYDWQLITH PTDYSGEVER
     KHSQSLQLSK LTPGLYEFKV TVDGQNAHGE GYVNVTVKPE PRKNRPPVAV VSPQFQEISL
     PTTSTIIDGS QSTDDDKIVQ YHWEELKGPL REEKISEDTA ILKLSKLVPG NYTFSLTVVD
     SDGATNSTTA SLTVNKAVDY PPVANAGPNQ VITLPQNSIT LFGNQSTDDH GITSYEWSLS
     PSSKGKVVEM QGVRTPALQL SAMQEGDYTY QLTVTDTAGQ QATAQVTVIV QPENNKPPQA
     DAGPDKELTL PVDSTTLDGS KSTDDQRVVS YLWEQSRGPD GVQLENANSS VATVTGLQVG
     TYVFTLTVKD ERNLQSQSSV NVIVKEEINK PPVAKIAGNV VVTLPTSTAE LDGSRSSDDK
     GIVSYLWTRD ETSPAAGEVL NHSDHHPVLF LSNLVEGTYT FHLKVTDAKG ESDTDRTTVE
     VKPDPRKSNL VEIILDVNVS QLTERLKGML IRQIGVLLGV LDSDIIVQKI QPYTEQSTKM
     LFFVQNDPPH QLFKGHEVAA MLKSELQKQK ADFLIFRALE ISTVTCQLNC SDHGHCDSFT
     KRCVCDPFWM ENFIKVQLRD GDSNCEWSVL YVIIASFVIV VALGILSWTT ICCCKRQKGK
     PKRKSRYKIL DATDQESLEL KPTSRAGSKQ KGPTLSSSLM HSESELDSDD AIFTWPDREK
     GKLLYGQNGS VPNGQTPLKS RSAREEIL
//
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