K1109_DANRE
ID K1109_DANRE Reviewed; 4923 AA.
AC A0A0R4IES7;
DT 12-SEP-2018, integrated into UniProtKB/Swiss-Prot.
DT 20-JAN-2016, sequence version 1.
DT 03-AUG-2022, entry version 21.
DE RecName: Full=Transmembrane protein KIAA1109 homolog {ECO:0000305};
GN ORFNames=si:ch211-233a24.2;
OS Danio rerio (Zebrafish) (Brachydanio rerio).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC Danionidae; Danioninae; Danio.
OX NCBI_TaxID=7955;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Tuebingen;
RX PubMed=23594743; DOI=10.1038/nature12111;
RA Howe K., Clark M.D., Torroja C.F., Torrance J., Berthelot C., Muffato M.,
RA Collins J.E., Humphray S., McLaren K., Matthews L., McLaren S., Sealy I.,
RA Caccamo M., Churcher C., Scott C., Barrett J.C., Koch R., Rauch G.J.,
RA White S., Chow W., Kilian B., Quintais L.T., Guerra-Assuncao J.A., Zhou Y.,
RA Gu Y., Yen J., Vogel J.H., Eyre T., Redmond S., Banerjee R., Chi J., Fu B.,
RA Langley E., Maguire S.F., Laird G.K., Lloyd D., Kenyon E., Donaldson S.,
RA Sehra H., Almeida-King J., Loveland J., Trevanion S., Jones M., Quail M.,
RA Willey D., Hunt A., Burton J., Sims S., McLay K., Plumb B., Davis J.,
RA Clee C., Oliver K., Clark R., Riddle C., Elliot D., Threadgold G.,
RA Harden G., Ware D., Begum S., Mortimore B., Kerry G., Heath P.,
RA Phillimore B., Tracey A., Corby N., Dunn M., Johnson C., Wood J., Clark S.,
RA Pelan S., Griffiths G., Smith M., Glithero R., Howden P., Barker N.,
RA Lloyd C., Stevens C., Harley J., Holt K., Panagiotidis G., Lovell J.,
RA Beasley H., Henderson C., Gordon D., Auger K., Wright D., Collins J.,
RA Raisen C., Dyer L., Leung K., Robertson L., Ambridge K., Leongamornlert D.,
RA McGuire S., Gilderthorp R., Griffiths C., Manthravadi D., Nichol S.,
RA Barker G., Whitehead S., Kay M., Brown J., Murnane C., Gray E.,
RA Humphries M., Sycamore N., Barker D., Saunders D., Wallis J., Babbage A.,
RA Hammond S., Mashreghi-Mohammadi M., Barr L., Martin S., Wray P.,
RA Ellington A., Matthews N., Ellwood M., Woodmansey R., Clark G., Cooper J.,
RA Tromans A., Grafham D., Skuce C., Pandian R., Andrews R., Harrison E.,
RA Kimberley A., Garnett J., Fosker N., Hall R., Garner P., Kelly D., Bird C.,
RA Palmer S., Gehring I., Berger A., Dooley C.M., Ersan-Urun Z., Eser C.,
RA Geiger H., Geisler M., Karotki L., Kirn A., Konantz J., Konantz M.,
RA Oberlander M., Rudolph-Geiger S., Teucke M., Lanz C., Raddatz G.,
RA Osoegawa K., Zhu B., Rapp A., Widaa S., Langford C., Yang F.,
RA Schuster S.C., Carter N.P., Harrow J., Ning Z., Herrero J., Searle S.M.,
RA Enright A., Geisler R., Plasterk R.H., Lee C., Westerfield M.,
RA de Jong P.J., Zon L.I., Postlethwait J.H., Nusslein-Volhard C.,
RA Hubbard T.J., Roest Crollius H., Rogers J., Stemple D.L.;
RT "The zebrafish reference genome sequence and its relationship to the human
RT genome.";
RL Nature 496:498-503(2013).
RN [2]
RP DISRUPTION PHENOTYPE.
RX PubMed=29290337; DOI=10.1016/j.ajhg.2017.12.002;
RG DDD Study;
RA Gueneau L., Fish R.J., Shamseldin H.E., Voisin N., Tran Mau-Them F.,
RA Preiksaitiene E., Monroe G.R., Lai A., Putoux A., Allias F., Ambusaidi Q.,
RA Ambrozaityte L., Cimbalistiene L., Delafontaine J., Guex N., Hashem M.,
RA Kurdi W., Jamuar S.S., Ying L.J., Bonnard C., Pippucci T., Pradervand S.,
RA Roechert B., van Hasselt P.M., Wiederkehr M., Wright C.F., Xenarios I.,
RA van Haaften G., Shaw-Smith C., Schindewolf E.M., Neerman-Arbez M.,
RA Sanlaville D., Lesca G., Guibaud L., Reversade B., Chelly J., Kucinskas V.,
RA Alkuraya F.S., Reymond A.;
RT "KIAA1109 Variants Are Associated with a Severe Disorder of Brain
RT Development and Arthrogryposis.";
RL Am. J. Hum. Genet. 102:116-132(2018).
CC -!- FUNCTION: Plays a role in endosomal trafficking and endosome recycling.
CC Also involved in the actin cytoskeleton and cilia structural dynamics.
CC Acts as regulator of phagocytosis. {ECO:0000250|UniProtKB:Q2LD37}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane
CC protein {ECO:0000255}.
CC -!- DISRUPTION PHENOTYPE: Morpholino knockdown alters head development.
CC Embryos are hydrocephalic, with abnormally curved notochord and overall
CC body shape. {ECO:0000269|PubMed:29290337}.
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DR EMBL; CR555301; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CT573111; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR SMR; A0A0R4IES7; -.
DR STRING; 7955.ENSDARP00000120522; -.
DR Ensembl; ENSDART00000164040; ENSDARP00000133547; ENSDARG00000062330.
DR ZFIN; ZDB-GENE-090313-98; kiaa1109.
DR GeneTree; ENSGT00640000091487; -.
DR PRO; PR:A0A0R4IES7; -.
DR Proteomes; UP000000437; Genome assembly.
DR Proteomes; UP000814640; Chromosome 13.
DR Bgee; ENSDARG00000062330; Expressed in caudal fin and 24 other tissues.
DR ExpressionAtlas; A0A0R4IES7; baseline.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0098793; C:presynapse; IEA:GOC.
DR GO; GO:0032456; P:endocytic recycling; ISS:UniProtKB.
DR GO; GO:0016197; P:endosomal transport; ISS:UniProtKB.
DR GO; GO:0006909; P:phagocytosis; ISS:UniProtKB.
DR GO; GO:0048488; P:synaptic vesicle endocytosis; IBA:GO_Central.
DR InterPro; IPR018863; Fragile_site-assoc_C.
DR InterPro; IPR033616; KIAA1109.
DR PANTHER; PTHR31640; PTHR31640; 1.
DR Pfam; PF10479; FSA_C; 2.
DR SMART; SM01220; FSA_C; 1.
PE 3: Inferred from homology;
KW Membrane; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..4923
FT /note="Transmembrane protein KIAA1109 homolog"
FT /id="PRO_0000445068"
FT TRANSMEM 25..45
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 160..179
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 606..631
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1203..1277
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1300..1334
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1357..1400
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1471..1494
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1630..1660
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1878..1948
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2191..2235
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2262..2281
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2355..2375
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2550..2655
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2885..2910
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 3564..3596
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 3645..3695
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 3739..3797
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 3848..3884
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 4017..4071
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 4102..4124
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 4249..4309
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 4797..4827
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1203..1227
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1316..1334
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1641..1658
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1880..1919
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2204..2235
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2355..2369
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2607..2641
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 3580..3594
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 3653..3683
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 3747..3772
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 3775..3797
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 4017..4043
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 4055..4071
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 4813..4827
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 4923 AA; 545451 MW; D45423748FBF5768 CRC64;
MDKGNNSLPT YDEIDEYLSR RNSTFVWLLV ATIMSCGWII YLTYYNSRNI GLVLTLIINR
LYKNGYIHIG SFSFSVLSGK VMFRDVYFIN KDMSIRIQDG LLIFRWWKMY NPKQKQHDPK
AETRLYVTVN GFEFHVYNRT DLYTRLQEIF GLEPTLIQSN RDEEKGREQR DKSLESVHIK
AETQDPSSSW RSLIPVIKVN ISTGRVAFGN HHLPQTLCMN FDDAFLTYAT KPPSSHLDQF
MHIVKGSLEN VRVMLVPSPR YLGLQNDEPP RLMGEGFVVM QSNDVDIYYY QDEPGLVPEE
LENGDTEACS EDAKLQDLPP CWGLDIVCGK GTDFNYGPWA DRQRDSLWKF FLPADYQPMK
VSEVPTPGKP RQILAFELRM NIIADATIDL LFTKNRETNA VHVNVGAGSY LEVNIPMTVG
ENGYSPTVKG QLLHVDTTSS MQYRTLLEAE MLAFHVIASY PRVWNMPQSW QCEIEVYKAT
YHFIYAQKNF FTDLIQDWAS DSEPDIYSFV PYSWKFKILF HQFEMIWAAN QHNWIDCSTK
QQENVYLAAC GETLNIDFTL PFHEFVPVTC NTRFCLRAED TDMRLCLPDC HPSRYPLLTL
AKDYQHSKSP PDNNMPAEGQ GAPPKNSKPR WRNMTHAEAG WVDCWSVPNF MLIIDYTWHP
IYPQKSEQQL KQSLSEIEES MLSALRPPEL APPVPPPPRV SSDPSLLPPD RLHVEMELSP
GSHITLYGPL LRALVSIKEN YFGEDDMYTD FEESLSSPVL STCSSSSCWT GVGLEDKSSK
EAPHPLTLRP WDITVFINLH KVHGRLPTHC SSDGPEGPTG FMERLCFEMK KGYKETMLQL
VLSPVHVFVS DNYQRPPIDA VLRDGHLSLS GLQMRAHAMF SAEGLPAGSD TLEYAWLIDV
QAGALTGRVS VPQCASLLEW GESFVFHVMS REFQLEQPKP SVTCQHGVDR RICDAKHAGL
PGHCRTSEDL KYTMTRLTVD GAHIFVVEHG CAANIKTGAL RVATCNLHTA AVGEGISAVL
QDVVIAQFIE QQEVARLGLP PPLLRRSHWL EAGSVTFNLI TADVALAADH SAKYEVQRQF
LELHDMKTKR LWFLWPEEKY KRSRNRCGCL GGCRFFGGTI GGLDFFRLEE ITPSSSSAFS
GISAECDMSY GQSLLHPGEW IVTKETPKIP DVIYAAKGIA VRRDTCSPAP VVDLERRVQQ
HLSLHVPQRS HSSASSSEEN SSSSAALPLL AGERESPSPS TELMNVTTDC PIPEGPPLRS
PLRSPLKRQS SVQSARLGST KSLSAAVFVE KALPPAGVQF SSEVSRSDEN VLDSPRQRRS
YGSFPFTPSA DSSTFHQYRS VDSSMSVADS EAYFSATEEF EPISSDEGPG TYPGRKRRRR
QQGQPHTEHS RTSIYHSVEG PLSINEIRPP LLPSHTSQAS FVSALGLEEE GSIETEKADP
GILTTQPHLM ACYQNYLAHY HVSNWAVKQP TNKRTSKSSL HRPLDLDTPT SEESSTCFDQ
LSIPTFKMVK AGLSASSLLD RGVQLMGDIN STPYTPLDKR AMDNTDEDTV TEDWTVDQPL
AQTRTTAIVE VKGAVNVVLT PLVVEALDRY IESMVHFASF RHPASILDDL HGKVLNEVYQ
ISKSTVSESS AAKQEHKISK TEGTTPGSLS TPHGQTDLSI KPDNVKIKGL QANVTVPKVN
LCVLQASVEE SSPSNKSITH VSLVALCFDR IATQLRMNRG IVEDTEKPSV MMEKFSSASK
MAPQSSGSLR SNAGIEKGKE IAARLNIHRI HSQLRGLDSS DIGACAITAI PFEKSKVLFS
LEEIDDFVLV DETEPSISTE HMPEHNPDHS RLGTSPEKWG WIMFECGIEN LTVKGGRQSG
AVLYSAFGVM GGADSGVRDG VSKSNDSSGS QTGSGYSTDV SDDNLPNDAQ SPASEPNNNS
DSDEQDEGVE SDDLKKDLPL LPPPPDSSSM KLTIKEIWFS FAAPTNIRSH APVMSRQLNL
LSTATPAVGA WLVPIDQLKS SLEKLDMEAT LRVCAVMGCI MTEALEKKSI HIPFRSKYNR
VTKRARYLHE NPSCLLCNIL HRYLQQADYT IIEEATMNDG LPALVTLRKG LVALARQWMK
FIVVTQGFKA VGLPQQLPKP KEQEPVEPEQ TPGLDCGGAL QSDTSADGAE FEFDAGTVSE
HTMLLEGVCS RPAPTGNSAP VTGVEIMRKL SKSHTHSESA LRIKGSHPYQ SLSYTSGDTA
ADSPAHVSRT GLQCNHSPRK ESLLSYLTGS IHSLHNLLEA TPHRANEQTA TKSSSLTRTG
NSVGADVLTE HPLLSEPFSV SFYNWMSNAV GNRTGGNVQD SPLNRSQHNS LQTGGVLPTI
PSASDFNTVL SSDQNTLDTH SQHSHSQHST SQEDLLDQDE TNLCPAAVQL ADAQVVFKPL
LSHIGIQPQD APPLSYKMYF GEHLSFSGTL ECLRADIVDS DTSKERKNKR AHRQGMVNLP
PLDFKPALMI ETFSLNAVVL EKCMSTPPSA SALSFHELSR RPQASVHCHF TVACQAIRQH
VDMALVRLIH QFSTMIDDIK ATQTDIKLNR YTAGSSSPTP TKGRPYREFR SSDFSRSSRG
SLNGAARLGT QKGKRGMVGP GLDTLTRSRE PRGRGTLGRS ERRTSKVSRK GSRDVADHMT
IQMDDSDSIT VSEQSEPSAE CWQNMYKLLN FYSLISDPTG ILEKNQDNAL SEGGRSPADP
PCRVVFESEE ETPPSRLGRR RSLVSAEPQH VTLIVFGVGM VNRTHLEADI GGLTMEAELK
KIHGSFTLKE KMKDILHQKM TETCASAHIG CVNIVLLEGI SPDIQLEDFP TSPTSTAKQE
FLTVVKCNIA KSQALYSAQR GLKTNNAAIF KVGAIFINIP QHPATLHSMM VRSSHQLSKQ
ISDLIRQPSN TPPPNREDTP TPQPSEVSIN QTPVEANEFP QLPEGLEKKP IVLKFSAMLD
GITIGAALLP SLKAEYKMGR MKSHGMTGAQ TRFTFELPNH KLCFQSKVSP VDVSAMPPTA
SLTLPPVTMS GQYIIQEHEG HSDTAWAPEY SSYLQGNYLR CVAEIGSFEH NLTTDLLNHL
VFLQKVFMKE VNEVIQKVSG GEQPIPLWNE HDVSTDGDKP KILLYSINLT FKGIQMTATT
PSMRAVRFET GWIELELSNR VQCKTTPTGS NYLKLFGKCQ VDLNLALGQI VKHQVYEEAG
SDFHQVAYFR TRIGLRNALQ EEISGSSDKE AVLITLSRPI IFAQPVAFDR AVLFWLNYKA
AYDNWKEQRL ALNSDIHMAT KEVVDKLPAI QQTSVQAFST LFLQLTVNDL GICLPITSAT
QANYSIDFDT GSALVLTIES TLITACSSES LVSKGHFKNF CIRFAEGFET TWDDWKPEIR
GDLVMNACVV PDGTYEVCSR TTGQASAESS SAGTWTLNVL WKMCGIDVHM DPNIGKRLNA
LGNTLTSLTG EEDNDDITDL NSVNMADLSD EDESDGMSPP VHMESVDLRR QAVMSNQIID
ARGRKFSKRL VDIRELNEQA KVIDDLKKLG ASEGTINQEI QRYQQLESVA VNDIRRDVRK
KLRRSSMRAA SLKDKWGLGY KPSYSNSRSK SISAAGRPPM KRSDRPREDL PDIKVEAASP
APRVTFNIDM FPEETEMELL SVTIDDAAHY PSCSVFSAPG TPAVFSPTVP FQPDDSRRDD
LSSTSSEDTD KEDDFDRDRP QSYYRRPGGS QRKSALSALF SERWPATPPQ RGGLAPPTER
NIDFELDVRV EIDSGKCVLH PSTQPTEHED LALRRSCERS SRSLDQDSPP KKRKVQPSFP
SSSHLLSAKR VPTSLQSKSS DIETTVFYIP GVDVKLHYNS KTLKTESPNA SRGSSLPRTL
SKESKLYGMR DAPTPAPAPA ASGPGKTNTL LSPPPPPLPS AKGKAGVGVK TAKLYAWVAL
QTLPEEMVIS PCLLDFLEKA LETIPITPVD RNYTTLNVHE EDVGHFDSVE PLEESQVSLV
SSATSPYSSF PVDVVVYVRV QPSQIRFSCL PMSRVECMLK LPSLDLVFSS NRGELEPTSA
TYPSEGQHTP SSTPPSVHNA NRVPGGPSTG LGSPLGRSRH HSSQSDLTGP PINSSGLSFT
ACMSDFSLYV FHPYGAGKQK SAVTGLPPGP GPLGSVEDEA SSVTGRKDSL SINLEFVKVS
LSRMRRTGCP AFIDTFIASK GGKMDTTLIN ISAVCDIGSA SFKYDMRRLS EILAFPRAWY
RRSIARRLFL GDQTINLPAS GPATPDSVES IAQHLSPESS RKAYWRTWDG QTTQHPSSSV
FTDTTPSHSH LKSPATGRTR SVSDSSAPRR DSVTKTSTPS FRNGKAAAQQ GSPWETLVVF
AINLKQLNVQ MNMSNVMGNN TWTTSGLKSQ GRLSVGSNRD REISMSIGLG RSKLDSKGGV
VGGNIDVNTL EMVSHISEHP NQQPSHKIQI TMGSTEARLD YMGSSILMGI FSNADLQLQD
EWKVNLCTAE ASLSEKSEIF VHGDLQWDIF QVIISRSTTP DLIKIGMKLQ EFFTQQFDTS
KRALSTWGPV PYMPPKTPVI NTDKASAELY MDAAHHRHWP NVLKMVAGCH ISLFQMPLPE
DAVQLGGSMS LHGNHMTLAC FHGPNFRSKS WVLFHLEEPN IAFWTEAQKI WEDGCSDDST
YIVQTLDFHL GHNTMVTKPC GALESPMATI TKVTRRRHEN PPHGVATVKE WFNYVTAMRN
EELNLLRNVD ANNSESGAAA KSSSLLSGFR GSSSYNHETE TIFALPKMQL QFKSIHVQDP
EEPSLSDANS KPKVECSVVT EFTDHICVTM DAELIMFLHD LVSAYLKEKE KALFAPRMFA
SRPGQKSPTT QQDEPSSDKK EEREKEEGVN YTTVDWREFL CNTWHLEPTL RLISWTGRKI
DPVGVDYILQ KLGFHHARTT IPKWLQRGVM DPLDKVLSVL IKKLGTALQD EREKKGQRDK
DEH
