K1109_HUMAN
ID K1109_HUMAN Reviewed; 5005 AA.
AC Q2LD37; Q4W598; Q5CZA9; Q6ZS70; Q6ZV75; Q86XA5; Q8WVD8; Q9H742; Q9NT48;
AC Q9NTC3; Q9NTI4; Q9P2H6; Q9UPP3;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 2.
DT 03-AUG-2022, entry version 128.
DE RecName: Full=Transmembrane protein KIAA1109 {ECO:0000305};
DE AltName: Full=Fragile site-associated protein;
GN Name=KIAA1109; Synonyms=FSA, KIAA1371;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RX PubMed=16545529; DOI=10.1016/j.gene.2005.12.024;
RA Wei Y., Lin-Lee Y.-C., Yang X., Dai W., Zhao S., Rassool F.V., Elgart G.W.,
RA Feun L., Savaraj N., Kuo M.T.;
RT "Molecular cloning of Chinese hamster 1q31 chromosomal fragile site DNA
RT that is important to mdr1 gene amplification reveals a novel gene whose
RT expression is associated with spermatocyte and adipocyte differentiation.";
RL Gene 372:44-52(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 169-1415 (ISOFORM 4), AND
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2251-5005 (ISOFORM 2).
RC TISSUE=Colon, Hippocampus, and Neutrophil;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 590-5005 (ISOFORM 5).
RC TISSUE=Brain;
RX PubMed=10718198; DOI=10.1093/dnares/7.1.65;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVI. The
RT complete sequences of 150 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:65-73(2000).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1429-5005 (ISOFORM 2), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 2044-5005 (ISOFORM 6), NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 4056-5005, AND NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
RP OF 4245-5005.
RC TISSUE=Seminoma, and Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1920-5005 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=10470851; DOI=10.1093/dnares/6.3.197;
RA Kikuno R., Nagase T., Ishikawa K., Hirosawa M., Miyajima N., Tanaka A.,
RA Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XIV. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 6:197-205(1999).
RN [7]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4667-5005.
RC TISSUE=Brain, and Skin;
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 [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=17081983; DOI=10.1016/j.cell.2006.09.026;
RA Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.;
RT "Global, in vivo, and site-specific phosphorylation dynamics in signaling
RT networks.";
RL Cell 127:635-648(2006).
RN [10]
RP POSSIBLE SUSCEPTIBILITY TO CELIAC6.
RX PubMed=17558408; DOI=10.1038/ng2058;
RA van Heel D.A., Franke L., Hunt K.A., Gwilliam R., Zhernakova A., Inouye M.,
RA Wapenaar M.C., Barnardo M.C.N.M., Bethel G., Holmes G.K.T., Feighery C.,
RA Jewell D., Kelleher D., Kumar P., Travis S., Walters J.R.F., Sanders D.S.,
RA Howdle P., Swift J., Playford R.J., McLaren W.M., Mearin M.L., Mulder C.J.,
RA McManus R., McGinnis R., Cardon L.R., Deloukas P., Wijmenga C.;
RT "A genome-wide association study for celiac disease identifies risk
RT variants in the region harboring IL2 and IL21.";
RL Nat. Genet. 39:827-829(2007).
RN [11]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1301 AND SER-1305, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [12]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1323; THR-1325; SER-1355;
RP SER-2603; SER-2755; SER-3562 AND SER-4124, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [13]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1406, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [14]
RP FUNCTION.
RX PubMed=31540829; DOI=10.1016/j.chom.2019.08.017;
RA Jeng E.E., Bhadkamkar V., Ibe N.U., Gause H., Jiang L., Chan J., Jian R.,
RA Jimenez-Morales D., Stevenson E., Krogan N.J., Swaney D.L., Snyder M.P.,
RA Mukherjee S., Bassik M.C.;
RT "Systematic Identification of Host Cell Regulators of Legionella
RT pneumophila Pathogenesis Using a Genome-wide CRISPR Screen.";
RL Cell Host Microbe 26:551.E6-563.E6(2019).
RN [15]
RP VARIANT ALKKUCS 519-TYR--HIS-5005 DEL.
RX PubMed=25558065; DOI=10.1016/j.celrep.2014.12.015;
RA Alazami A.M., Patel N., Shamseldin H.E., Anazi S., Al-Dosari M.S.,
RA Alzahrani F., Hijazi H., Alshammari M., Aldahmesh M.A., Salih M.A.,
RA Faqeih E., Alhashem A., Bashiri F.A., Al-Owain M., Kentab A.Y., Sogaty S.,
RA Al Tala S., Temsah M.H., Tulbah M., Aljelaify R.F., Alshahwan S.A.,
RA Seidahmed M.Z., Alhadid A.A., Aldhalaan H., Alqallaf F., Kurdi W.,
RA Alfadhel M., Babay Z., Alsogheer M., Kaya N., Al-Hassnan Z.N.,
RA Abdel-Salam G.M., Al-Sannaa N., Al Mutairi F., El Khashab H.Y., Bohlega S.,
RA Jia X., Nguyen H.C., Hammami R., Adly N., Mohamed J.Y., Abdulwahab F.,
RA Ibrahim N., Naim E.A., Al-Younes B., Meyer B.F., Hashem M., Shaheen R.,
RA Xiong Y., Abouelhoda M., Aldeeri A.A., Monies D.M., Alkuraya F.S.;
RT "Accelerating novel candidate gene discovery in neurogenetic disorders via
RT whole-exome sequencing of prescreened multiplex consanguineous families.";
RL Cell Rep. 10:148-161(2015).
RN [16]
RP INVOLVEMENT IN ALKKUCS, AND VARIANTS ALKKUCS 519-TYR--HIS-5005 DEL;
RP CYS-968; CYS-1329; ILE-1573; MET-1867; GLN-1958; HIS-3050; ARG-3385 AND
RP 4023-GLU--HIS-5005 DEL.
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).
RN [17]
RP VARIANT ALKKUCS 825-VAL--GLN-872 DEL.
RX PubMed=30485398; DOI=10.1111/cge.13472;
RA Filatova A., Freire V., Lozier E., Konovalov F., Bessonova L., Iudina E.,
RA Gnetetskaya V., Kanivets I., Korostelev S., Skoblov M.;
RT "Novel KIAA1109 variants affecting splicing in a Russian family with
RT ALKURAYA-KUCINSKAS syndrome.";
RL Clin. Genet. 95:440-441(2019).
RN [18]
RP VARIANTS ALKKUCS LYS-216; GLY-228 AND 4375-ARG--HIS-5005 DEL, AND FUNCTION.
RX PubMed=30906834; DOI=10.1016/j.gendis.2018.12.004;
RA Kane M.S., Diamonstein C.J., Hauser N., Deeken J.F., Niederhuber J.E.,
RA Vilboux T.;
RT "Endosomal trafficking defects in patient cells with KIAA1109 biallelic
RT variants.";
RL Genes Dis. 6:56-67(2019).
CC -!- FUNCTION: Plays a role in endosomal trafficking and endosome recycling.
CC Also involved in the actin cytoskeleton and cilia structural dynamics
CC (PubMed:30906834). Acts as regulator of phagocytosis (PubMed:31540829).
CC {ECO:0000269|PubMed:30906834, ECO:0000269|PubMed:31540829}.
CC -!- INTERACTION:
CC Q2LD37; P35222: CTNNB1; NbExp=2; IntAct=EBI-2683809, EBI-491549;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane
CC protein {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=6;
CC Name=1;
CC IsoId=Q2LD37-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q2LD37-2; Sequence=VSP_031023, VSP_031026, VSP_031027;
CC Name=4;
CC IsoId=Q2LD37-4; Sequence=VSP_031023;
CC Name=5;
CC IsoId=Q2LD37-5; Sequence=VSP_031024, VSP_031025;
CC Name=6;
CC IsoId=Q2LD37-6; Sequence=VSP_031028, VSP_031029;
CC Name=7;
CC IsoId=Q2LD37-7; Sequence=VSP_031030, VSP_031031;
CC -!- TISSUE SPECIFICITY: Highly expressed in testis and ovary. Weakly or not
CC expressed in other tissues. {ECO:0000269|PubMed:16545529}.
CC -!- DISEASE: Alkuraya-Kucinskas syndrome (ALKKUCS) [MIM:617822]: An
CC autosomal recessive syndrome characterized by brain atrophy and
CC arthrogryposis. Patients present with cerebral parenchymal
CC underdevelopment, lissencephaly, severe to mild ventriculomegaly, and
CC cerebellar hypoplasia with brainstem dysgenesis. Most affected
CC individuals die in utero or soon after birth. The few patients who
CC survive have variable intellectual disability and may have seizures.
CC Facial dysmorphism, cardiac and ophthalmologic anomalies, such as
CC microphthalmia and cataract, are additional features.
CC {ECO:0000269|PubMed:25558065, ECO:0000269|PubMed:29290337,
CC ECO:0000269|PubMed:30485398, ECO:0000269|PubMed:30906834}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- MISCELLANEOUS: KIAA1109 is mapped in the genomic region associated with
CC susceptibility to celiac disease (CELIAC6).
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH18094.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAH45783.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAI08275.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB15057.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC85988.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC87084.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
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DR EMBL; DQ335469; ABC59821.1; -; mRNA.
DR EMBL; AC022489; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC127089; AAY41044.1; -; Genomic_DNA.
DR EMBL; AC104658; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK025057; BAB15057.1; ALT_INIT; mRNA.
DR EMBL; AK124902; BAC85988.1; ALT_INIT; mRNA.
DR EMBL; AK127686; BAC87084.1; ALT_SEQ; mRNA.
DR EMBL; AB037792; BAA92609.1; -; mRNA.
DR EMBL; AL137254; CAB70656.1; -; mRNA.
DR EMBL; AL137384; CAB70718.1; -; mRNA.
DR EMBL; AL137532; CAB70795.1; -; mRNA.
DR EMBL; CR936613; CAI56756.1; -; mRNA.
DR EMBL; AB029032; BAA83061.2; -; mRNA.
DR EMBL; BC108274; AAI08275.1; ALT_SEQ; mRNA.
DR EMBL; BC018094; AAH18094.2; ALT_INIT; mRNA.
DR EMBL; BC045783; AAH45783.1; ALT_INIT; mRNA.
DR CCDS; CCDS43267.1; -. [Q2LD37-1]
DR PIR; T46326; T46326.
DR PIR; T46376; T46376.
DR PIR; T46438; T46438.
DR RefSeq; NP_056127.2; NM_015312.3. [Q2LD37-1]
DR RefSeq; XP_005263344.1; XM_005263287.1. [Q2LD37-1]
DR RefSeq; XP_006714407.1; XM_006714344.1. [Q2LD37-4]
DR SMR; Q2LD37; -.
DR BioGRID; 123919; 30.
DR IntAct; Q2LD37; 8.
DR MINT; Q2LD37; -.
DR STRING; 9606.ENSP00000264501; -.
DR iPTMnet; Q2LD37; -.
DR PhosphoSitePlus; Q2LD37; -.
DR BioMuta; KIAA1109; -.
DR DMDM; 317373370; -.
DR EPD; Q2LD37; -.
DR jPOST; Q2LD37; -.
DR MassIVE; Q2LD37; -.
DR MaxQB; Q2LD37; -.
DR PaxDb; Q2LD37; -.
DR PeptideAtlas; Q2LD37; -.
DR PRIDE; Q2LD37; -.
DR ProteomicsDB; 61331; -. [Q2LD37-1]
DR ProteomicsDB; 61332; -. [Q2LD37-2]
DR ProteomicsDB; 61333; -. [Q2LD37-4]
DR ProteomicsDB; 61334; -. [Q2LD37-5]
DR ProteomicsDB; 61335; -. [Q2LD37-6]
DR ProteomicsDB; 61336; -. [Q2LD37-7]
DR Antibodypedia; 26783; 16 antibodies from 8 providers.
DR DNASU; 84162; -.
DR Ensembl; ENST00000264501.8; ENSP00000264501.4; ENSG00000138688.17. [Q2LD37-1]
DR GeneID; 84162; -.
DR KEGG; hsa:84162; -.
DR UCSC; uc003ieh.4; human. [Q2LD37-1]
DR CTD; 84162; -.
DR DisGeNET; 84162; -.
DR GeneCards; KIAA1109; -.
DR HGNC; HGNC:26953; KIAA1109.
DR HPA; ENSG00000138688; Low tissue specificity.
DR MalaCards; KIAA1109; -.
DR MIM; 611565; gene.
DR MIM; 617822; phenotype.
DR neXtProt; NX_Q2LD37; -.
DR OpenTargets; ENSG00000138688; -.
DR Orphanet; 610569; KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome.
DR PharmGKB; PA142671621; -.
DR VEuPathDB; HostDB:ENSG00000138688; -.
DR eggNOG; KOG3596; Eukaryota.
DR GeneTree; ENSGT00640000091487; -.
DR HOGENOM; CLU_000118_0_0_1; -.
DR InParanoid; Q2LD37; -.
DR OMA; MEGNAPL; -.
DR OrthoDB; 77777at2759; -.
DR PhylomeDB; Q2LD37; -.
DR TreeFam; TF105915; -.
DR PathwayCommons; Q2LD37; -.
DR SignaLink; Q2LD37; -.
DR BioGRID-ORCS; 84162; 20 hits in 1084 CRISPR screens.
DR ChiTaRS; KIAA1109; human.
DR GeneWiki; KIAA1109; -.
DR GenomeRNAi; 84162; -.
DR Pharos; Q2LD37; Tbio.
DR PRO; PR:Q2LD37; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q2LD37; protein.
DR Bgee; ENSG00000138688; Expressed in Brodmann (1909) area 23 and 211 other tissues.
DR ExpressionAtlas; Q2LD37; baseline and differential.
DR Genevisible; Q2LD37; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; NAS:BHF-UCL.
DR GO; GO:0005634; C:nucleus; NAS:BHF-UCL.
DR GO; GO:0098793; C:presynapse; IEA:GOC.
DR GO; GO:0032456; P:endocytic recycling; IMP:UniProtKB.
DR GO; GO:0016197; P:endosomal transport; IMP:UniProtKB.
DR GO; GO:0006909; P:phagocytosis; IMP:UniProtKB.
DR GO; GO:0001558; P:regulation of cell growth; NAS:BHF-UCL.
DR GO; GO:0030856; P:regulation of epithelial cell differentiation; NAS:BHF-UCL.
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 1: Evidence at protein level;
KW Alternative splicing; Disease variant; Membrane; Phosphoprotein;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..5005
FT /note="Transmembrane protein KIAA1109"
FT /id="PRO_0000317555"
FT TRANSMEM 26..46
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 691..721
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1218..1257
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1269..1310
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1343..1376
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1400..1427
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1521..1548
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1676..1704
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1924..1991
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2401..2420
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2598..2677
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2928..2967
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 3612..3661
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 3686..3744
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 3821..3843
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 3914..3954
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 4088..4146
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 4325..4394
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 691..711
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1219..1245
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1277..1310
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1357..1376
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1532..1548
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1927..1973
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2622..2642
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2643..2677
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2946..2963
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 3630..3647
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 3686..3701
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 3713..3744
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 3821..3839
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 1301
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 1305
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692"
FT MOD_RES 1323
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1325
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1355
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1406
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 1805
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2AAE1"
FT MOD_RES 1808
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2AAE1"
FT MOD_RES 2601
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2AAE1"
FT MOD_RES 2603
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 2755
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 3562
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 3653
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2AAE1"
FT MOD_RES 4124
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 871
FT /note="Missing (in isoform 2 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_031023"
FT VAR_SEQ 932..984
FT /note="LACLLEWGQTFVFHVVCREYELERPKSVIICQHGIDRRFCESKLSCIPGPCP
FT T -> VWFSEYYLLTYFLFPFSTHLLKNNLYACLNVHCISTDGILMGVILAIQNFSYR
FT (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:10718198"
FT /id="VSP_031024"
FT VAR_SEQ 985..5005
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:10718198"
FT /id="VSP_031025"
FT VAR_SEQ 2865..2874
FT /note="TVVKCSIAKS -> YVILFFFMAL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_031026"
FT VAR_SEQ 2875..5005
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_031027"
FT VAR_SEQ 3666..3680
FT /note="FPEETELDLLSVTIE -> IAEIRRKKISFKVVF (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_031028"
FT VAR_SEQ 3681..5005
FT /note="Missing (in isoform 6)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_031029"
FT VAR_SEQ 4245..4251
FT /note="AVCDIGS -> GTQFYSF (in isoform 7)"
FT /evidence="ECO:0000305"
FT /id="VSP_031030"
FT VAR_SEQ 4252..5005
FT /note="Missing (in isoform 7)"
FT /evidence="ECO:0000305"
FT /id="VSP_031031"
FT VARIANT 216
FT /note="N -> K (in ALKKUCS; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:30906834"
FT /id="VAR_083180"
FT VARIANT 228
FT /note="D -> G (in ALKKUCS; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:30906834"
FT /id="VAR_083181"
FT VARIANT 519..5005
FT /note="Missing (in ALKKUCS)"
FT /evidence="ECO:0000269|PubMed:25558065,
FT ECO:0000269|PubMed:29290337"
FT /id="VAR_080684"
FT VARIANT 825..872
FT /note="Missing (in ALKKUCS)"
FT /evidence="ECO:0000269|PubMed:30485398"
FT /id="VAR_083182"
FT VARIANT 968
FT /note="R -> C (in ALKKUCS; unknown pathological
FT significance; dbSNP:rs1051597475)"
FT /evidence="ECO:0000269|PubMed:29290337"
FT /id="VAR_080685"
FT VARIANT 978
FT /note="I -> T (in dbSNP:rs6848868)"
FT /id="VAR_038547"
FT VARIANT 1329
FT /note="Y -> C (in ALKKUCS; unknown pathological
FT significance; dbSNP:rs770791100)"
FT /evidence="ECO:0000269|PubMed:29290337"
FT /id="VAR_080686"
FT VARIANT 1573
FT /note="M -> I (in ALKKUCS; unknown pathological
FT significance; dbSNP:rs368227278)"
FT /evidence="ECO:0000269|PubMed:29290337"
FT /id="VAR_080687"
FT VARIANT 1867
FT /note="V -> M (in ALKKUCS; unknown pathological
FT significance; dbSNP:rs1554025656)"
FT /evidence="ECO:0000269|PubMed:29290337"
FT /id="VAR_080688"
FT VARIANT 1951
FT /note="D -> E (in dbSNP:rs56363411)"
FT /id="VAR_061241"
FT VARIANT 1958
FT /note="R -> Q (in ALKKUCS; unknown pathological
FT significance; dbSNP:rs1263871665)"
FT /evidence="ECO:0000269|PubMed:29290337"
FT /id="VAR_080689"
FT VARIANT 2521
FT /note="S -> R (in dbSNP:rs45608936)"
FT /id="VAR_061242"
FT VARIANT 3050
FT /note="P -> H (in ALKKUCS; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:29290337"
FT /id="VAR_080690"
FT VARIANT 3385
FT /note="G -> R (in ALKKUCS; unknown pathological
FT significance; dbSNP:rs1554059454)"
FT /evidence="ECO:0000269|PubMed:29290337"
FT /id="VAR_080691"
FT VARIANT 4023..5005
FT /note="Missing (in ALKKUCS)"
FT /evidence="ECO:0000269|PubMed:29290337"
FT /id="VAR_080692"
FT VARIANT 4352
FT /note="T -> A (in dbSNP:rs2306369)"
FT /id="VAR_038548"
FT VARIANT 4375..5005
FT /note="Missing (in ALKKUCS)"
FT /evidence="ECO:0000269|PubMed:30906834"
FT /id="VAR_083183"
FT VARIANT 4786
FT /note="T -> A (in dbSNP:rs10017270)"
FT /id="VAR_038549"
FT CONFLICT 26
FT /note="N -> G (in Ref. 1; ABC59821)"
FT /evidence="ECO:0000305"
FT CONFLICT 155
FT /note="E -> G (in Ref. 1; ABC59821)"
FT /evidence="ECO:0000305"
FT CONFLICT 247
FT /note="M -> T (in Ref. 1; ABC59821)"
FT /evidence="ECO:0000305"
FT CONFLICT 336
FT /note="G -> S (in Ref. 1; ABC59821)"
FT /evidence="ECO:0000305"
FT CONFLICT 571
FT /note="D -> G (in Ref. 1; ABC59821)"
FT /evidence="ECO:0000305"
FT CONFLICT 857
FT /note="L -> P (in Ref. 3; BAC85988)"
FT /evidence="ECO:0000305"
FT CONFLICT 2456
FT /note="T -> A (in Ref. 5; CAI56756)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 5005 AA; 555482 MW; 8EF3E5E73AF2A37D CRC64;
MDQRKNESIV PSITQLEDFL TEHNSNVVWL LVATILSCGW IIYLTYYNSR NVGLILTLVL
NRLYKHGYIH IGSFSFSVLS GKVMVREIYY ITEDMSIRIQ DGFIIFRWWK MYNPKQKQHD
PKAETRLYIT VNDFEFHVYN RSDLYGRLQE LFGLEPTIIP PKKDDDKTRE IGRTRTQSKI
ERVKVKTESQ DPTSSWRSLI PVIKVNVSTG RLAFGNHYQP QTLCINFDDA FLTYTTKPPS
SHLDQFMHIV KGKLENVRVM LVPSPRYVGL QNDEPPRLMG EGFVVMQSND VDIYYYMDEP
GLVPEETEEN IEGEMSSEDC KLQDLPPCWG LDIVCGKGTD FNYGPWADRQ RDCLWKFFFP
PDYQVLKVSE IAQPGRPRQI LAFELRMNII ADATIDLLFT KNRETNAVHV NVGAGSYLEI
NIPMTVEENG YTPAIKGQLL HVDATTSMQY RTLLEAEMLA FHINASYPRI WNMPQTWQCE
LEVYKATYHF IFAQKNFFTD LIQDWSSDSP PDIFSFVPYT WNFKIMFHQF EMIWAANQHN
WIDCSTKQQE NVYLAACGET LNIDFSLPFT DFVPATCNTK FSLRGEDVDL HLFLPDCHPS
KYSLFMLVKN CHPNKMIHDT GIPAECQSGQ KTVKPKWRNV TQEKSGWVEC WTVPSVMLTI
DYTWHPIYPQ KADEQLKQSL SEMEETMLSV LRPSQKTSDR VVSSPSTSSR PPIDPSELPP
DKLHVEMELS PDSQITLYGP LLNAFLCIKE NYFGEDDMYM DFEEVISSPV LSLSTSSSSG
WTAVGMENDK KENEGSAKSI HPLALRPWDI TVLVNLYKVH GRLPVHGTTD GPECPTAFLE
RLCFEMKKGF RETMLQLILS PLNVFVSDNY QQRPPVDEVL REGHINLSGL QLRAHAMFSA
EGLPLGSDSL EYAWLIDVQA GSLTAKVTAP QLACLLEWGQ TFVFHVVCRE YELERPKSVI
ICQHGIDRRF CESKLSCIPG PCPTSDDLKY TMIRLAVDGA DIYIVEHGCA TNIKMGAIRV
ANCNLHNQSV GEGISAAIQD FQVRQYIEQL NNCRIGLQPA VLRRAYWLEA GSANLGLITV
DIALAADHHS KHEAQRHFLE THDARTKRLW FLWPDDILKN KRCRNKCGCL GGCRFFGGTV
TGLDFFKLEE LTPSSSSAFS STSAESDMYY GQSLLQPGEW IITKEIPKII DGNVNGMKRK
EWENKSVGIE VERKTQHLSL QVPLRSHSSS SSSEENSSSS AAQPLLAGEK ESPSSVADDH
LVQKEFLHGT KRDDGQASIP TEISGNSPVS PNTQDKSVGQ SPLRSPLKRQ ASVCSTRLGS
TKSLTAAFYG DKQPVTVGVQ FSSDVSRSDE NVLDSPKQRR SFGSFPYTPS ADSNSFHQYR
SMDSSMSMAD SEAYFSAAEE FEPISSDEGP GTYPGRKKKK KQTQQIDYSR GSIYHSVEGP
LTGHGESIQD SRTLPFKTHP SQASFVSALG GEDDVIEHLY IVEGEKTVES EQITPQQPVM
NCYQTYLTQF QVINWSVKHP TNKRTSKSSL HRPLDLDTPT SEESSSSFEQ LSVPTFKVIK
QGLTANSLLD RGMQLSGSTS NTPYTPLEKK LADNTDDETL TEEWTLDQPV SQTRTTAIVE
VKGTVDIVLT PLVAEALDRY IEAMVHCAST RHPAAIVDDL HAKVLREAVQ NSKTTFSENL
SSKQDIRGTK TEQSTIGTTN QGQAQTNLTM KQDNVTIKGL QTNVSIPKVN LCLLQASVEE
SPTTAPSRSV THVSLVALCF DRIATQVRMN RGVVEETSNN AEPGRTSNFD RYVHATKMQP
QSSGSLRSNA GAEKGKEIAA KLNIHRVHGQ LRGLDTTDIG TCAITAIPFE KSKVLFTLEE
LDEFTFVDET DQQAVPDVTR IGPSQEKWGW IMFECGLENL TIKGGRQSGA VLYNSFGIMG
KASDTERGGV LTSNNSSDSP TGSGYNTDVS DDNLPCDRTS PSSDLNGNSV SDEQDEGVES
DDLKKDLPLM PPPPDSCSMK LTIKEIWFSF AAPTNVRSHT HAFSRQLNLL STATPAVGAW
LVPIDQLKSS LNKLETEGTL RICAVMGCIM TEALENKSVH FPLRSKYNRL TKVARFLQEN
PSCLLCNILH HYLHQANYSI IDDATMSDGL PALVTLKKGL VALARQWMKF IVVTPAFKGV
SLHRPAQPLK PQIAMDHEHE DGLGLDNGGG LQSDTSADGA EFEFDAATVS EHTMLLEGTA
NRPPPGSSGP VTGAEIMRKL SKTHTHSDSA LKIKGIHPYH SLSYTSGDTA TDSPVHVGRA
GMPVKDSPRK ESLLSYLTGS FPSLHNLLEG TPQRSSAAVK SSSLTRTGNT VATDMLSEHP
LLSEPSSVSF YNWMSNAVGN RGSVLQESPV TKSGHNSLPT GVAPNLPTIP SASDFNTVLS
SDQNTLDGTH SQHSTSQDDV AGVEEANQGF PAVQLADAQV VFKPLLSHTG IQSQDTMPFC
YRMYFGEHLS FSGTLDCLRA DIVDSDTAKE RKGKRARRQG HVNLPPLEFK PALMLGTFSI
SAVVMEKSVC TPQNSTSALS FHDLSKRYYN TFHCNFTISC QSISQHVDMA LVRLIHQFST
MIDDIKATQT DIKLSRYTAG SASPTPTFKT RKHRDFRSSD FSRSSRGSLN GGNRVNNAKN
KRTNNENNKK ESRNKNSLGR SERRTSKVSR KGSKDVVDHM TIHMDDSDSI TVSEQSEPSA
ECWQNMYKLL NFYSLISDPT GILEKSSETF GPAGVRSPTE PTCKVVFENE QDNSSLTKTQ
RKRSLVTSEP QHVTLIVFGI GMVNRTHLEA DIGGLTMESE LKRIHGSFTL KEKMKDVLHQ
KMTETCATAH IGGVNIVLLE GITPNIQLED FPTSPTSTAK QEFLTVVKCS IAKSQALYSA
QRGLKTNNAA VFKVGAISIN IPQHPATLHS MMVRSSHQLS KQISDLIRQP STAPQPVKED
IATPLPSEKT PTSVNQTPVE TNEFPQLPEG LEKKPIVLKF SAMLDGIAIG AALLPSLKAE
YKMGRMRSHG MTGAQTRFTF ELPNHRLRFT SKVSATDMST IPPSASLNLP PVTMSGKYIM
EEHDSYSDQV WSIDELPSKQ GYYLQGNYLR CVAEVGSFEH NLTTDLLNHL VFVQKVFMKE
VNEVIQKVSG GEQPIPLWNE HDGTADGDKP KILLYSLNLQ FKGIQVTATT PSMRAVRFET
GLIELELSNR LQTKASPGSS SYLKLFGKCQ VDLNLALGQI VKHQVYEEAG SDFHQVAYFK
TRIGLRNALR EEISGSSDRE AVLITLNRPI VYAQPVAFDR AVLFWLNYKA AYDNWNEQRM
ALHKDIHMAT KEVVDMLPGI QQTSAQAFGT LFLQLTVNDL GICLPITNTA QSNHTGDLDT
GSALVLTIES TLITACSSES LVSKGHFKNF CIRFADGFET SWDDWKPEIH GDLVMNACVV
PDGTYEVCSR TTGQAAAESS SAGTWTLNVL WKMCGIDVHM DPNIGKRLNA LGNTLTTLTG
EEDIDDIADL NSVNIADLSD EDEVDTMSPT IHTEATDYRR QAASASQPGE LRGRKIMKRI
VDIRELNEQA KVIDDLKKLG ASEGTINQEI QRYQQLESVA VNDIRRDVRK KLRRSSMRAA
SLKDKWGLSY KPSYSRSKSI SASGRPPLKR MERASSRVGE TEELPEIRVD AASPGPRVTF
NIQDTFPEET ELDLLSVTIE GPSHYSSNSE GSCSVFSSPK TPGGFSPGIP FQTEEGRRDD
SLSSTSEDSE KDEKDEDHER ERFYIYRKPS HTSRKKATGF AAVHQLFTER WPTTPVNRSL
SGTATERNID FELDIRVEID SGKCVLHPTT LLQEHDDISL RRSYDRSSRS LDQDSPSKKK
KFQTNYASTT HLMTGKKVPS SLQTKPSDLE TTVFYIPGVD VKLHYNSKTL KTESPNASRG
SSLPRTLSKE SKLYGMKDSA TSPPSPPLPS TVQSKTNTLL PPQPPPIPAA KGKGSGGVKT
AKLYAWVALQ SLPEEMVISP CLLDFLEKAL ETIPITPVER NYTAVSSQDE DMGHFEIPDP
MEESTTSLVS SSTSAYSSFP VDVVVYVRVQ PSQIKFSCLP VSRVECMLKL PSLDLVFSSN
RGELETLGTT YPAETLSPGG NATQSGTKTS ASKTGIPGSS GLGSPLGRSR HSSSQSDLTS
SSSSSSGLSF TACMSDFSLY VFHPYGAGKQ KTAVSGLTPG SGGLGNVDEE PTSVTGRKDS
LSINLEFVKV SLSRIRRSGG ASFFESQSVS KSASKMDTTL INISAVCDIG SASFKYDMRR
LSEILAFPRA WYRRSIARRL FLGDQTINLP TSGPGTPDSI EGVSQHLSPE SSRKAYCKTW
EQPSQSASFT HMPQSPNVFN EHMTNSTMSP GTVGQSLKSP ASIRSRSVSD SSVPRRDSLS
KTSTPFNKSN KAASQQGTPW ETLVVFAINL KQLNVQMNMS NVMGNTTWTT SGLKSQGRLS
VGSNRDREIS MSVGLGRSQL DSKGGVVGGT IDVNALEMVA HISEHPNQQP SHKIQITMGS
TEARVDYMGS SILMGIFSNA DLKLQDEWKV NLYNTLDSSI TDKSEIFVHG DLKWDIFQVM
ISRSTTPDLI KIGMKLQEFF TQQFDTSKRA LSTWGPVPYL PPKTMTSNLE KSSQEQLLDA
AHHRHWPGVL KVVSGCHISL FQIPLPEDGM QFGGSMSLHG NHMTLACFHG PNFRSKSWAL
FHLEEPNIAF WTEAQKIWED GSSDHSTYIV QTLDFHLGHN TMVTKPCGAL ESPMATITKI
TRRRHENPPH GVASVKEWFN YVTATRNEEL NLLRNVDANN TENSTTVKNS SLLSGFRGGS
SYNHETETIF ALPRMQLDFK SIHVQEPQEP SLQDASLKPK VECSVVTEFT DHICVTMDAE
LIMFLHDLVS AYLKEKEKAI FPPRILSTRP GQKSPIIIHD DNSSDKDRED SITYTTVDWR
DFMCNTWHLE PTLRLISWTG RKIDPVGVDY ILQKLGFHHA RTTIPKWLQR GVMDPLDKVL
SVLIKKLGTA LQDEKEKKGK DKEEH