CPLN1_HUMAN
ID CPLN1_HUMAN Reviewed; 3197 AA.
AC Q9H799; A8MUB7; B7ZLV7; Q4G174; Q6DK46; Q8N8L4; Q9H5T1; Q9H8T9;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-SEP-2012, sequence version 4.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=Ciliogenesis and planar polarity effector 1 {ECO:0000305};
DE AltName: Full=Protein JBTS17;
GN Name=CPLANE1 {ECO:0000312|HGNC:HGNC:25801};
GN Synonyms=C5orf42, JBTS17 {ECO:0000312|HGNC:HGNC:25801};
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 953-3197 (ISOFORM 1), AND
RP VARIANTS LEU-1794 AND CYS-2033.
RC TISSUE=Cerebellum, Embryonic brain, and Testis;
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 1871-2391 (ISOFORMS 1/2),
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2561-2879 (ISOFORM 2), AND
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2781-3197 (ISOFORM 1).
RC TISSUE=Brain, Lung, and Ovary;
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 INVOLVEMENT IN JBTS17.
RX PubMed=23012439; DOI=10.1136/jmedgenet-2012-101132;
RG FORGE Canada Consortium;
RA Srour M., Hamdan F.F., Schwartzentruber J.A., Patry L., Ospina L.H.,
RA Shevell M.I., Desilets V., Dobrzeniecka S., Mathonnet G., Lemyre E.,
RA Massicotte C., Labuda D., Amrom D., Andermann E., Sebire G., Maranda B.,
RA Rouleau G.A., Majewski J., Michaud J.L.;
RT "Mutations in TMEM231 cause Joubert syndrome in French Canadians.";
RL J. Med. Genet. 49:636-641(2012).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2407, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
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 [6]
RP INVOLVEMENT IN OFD6, AND VARIANTS OFD6 LEU-1127; CYS-1184; CYS-1193;
RP HIS-1287 AND LEU-2837.
RX PubMed=24178751; DOI=10.1007/s00439-013-1385-1;
RA Lopez E., Thauvin-Robinet C., Reversade B., Khartoufi N.E., Devisme L.,
RA Holder M., Ansart-Franquet H., Avila M., Lacombe D., Kleinfinger P.,
RA Kaori I., Takanashi J., Le Merrer M., Martinovic J., Noel C., Shboul M.,
RA Ho L., Guven Y., Razavi F., Burglen L., Gigot N., Darmency-Stamboul V.,
RA Thevenon J., Aral B., Kayserili H., Huet F., Lyonnet S., Le Caignec C.,
RA Franco B., Riviere J.B., Faivre L., Attie-Bitach T.;
RT "C5orf42 is the major gene responsible for OFD syndrome type VI.";
RL Hum. Genet. 133:367-377(2014).
RN [7]
RP FUNCTION.
RX PubMed=25877302; DOI=10.1093/hmg/ddv137;
RA Damerla R.R., Cui C., Gabriel G.C., Liu X., Craige B., Gibbs B.C.,
RA Francis R., Li Y., Chatterjee B., San Agustin J.T., Eguether T.,
RA Subramanian R., Witman G.B., Michaud J.L., Pazour G.J., Lo C.W.;
RT "Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition
RT zone defects and cerebellar and other ciliopathy related anomalies.";
RL Hum. Mol. Genet. 24:3994-4005(2015).
RN [8]
RP VARIANT JBTS17 TRP-1336, AND ALTERNATIVE SPLICING.
RX PubMed=22425360; DOI=10.1016/j.ajhg.2012.02.011;
RA Srour M., Schwartzentruber J., Hamdan F.F., Ospina L.H., Patry L.,
RA Labuda D., Massicotte C., Dobrzeniecka S., Capo-Chichi J.M.,
RA Papillon-Cavanagh S., Samuels M.E., Boycott K.M., Shevell M.I.,
RA Laframboise R., Desilets V., Maranda B., Rouleau G.A., Majewski J.,
RA Michaud J.L.;
RT "Mutations in C5ORF42 cause Joubert syndrome in the French Canadian
RT population.";
RL Am. J. Hum. Genet. 90:693-700(2012).
RN [9]
RP VARIANT LEU-1794.
RX PubMed=22264561; DOI=10.1016/j.nmd.2011.11.006;
RA Lim Y.M., Koh I., Park Y.M., Kim J.J., Kim D.S., Kim H.J., Baik K.H.,
RA Choi H.Y., Yang G.S., Also-Rallo E., Tizzano E.F., Gamez J., Park K.,
RA Yoo H.W., Lee J.K., Kim K.K.;
RT "Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes
RT for monomelic amyotrophy.";
RL Neuromuscul. Disord. 22:394-400(2012).
RN [10]
RP VARIANT JBTS17 TRP-1336.
RX PubMed=26477546; DOI=10.1016/j.ajhg.2015.09.009;
RG Care4Rare Canada Consortium;
RA Srour M., Hamdan F.F., McKnight D., Davis E., Mandel H.,
RA Schwartzentruber J., Martin B., Patry L., Nassif C., Dionne-Laporte A.,
RA Ospina L.H., Lemyre E., Massicotte C., Laframboise R., Maranda B.,
RA Labuda D., Decarie J.C., Rypens F., Goldsher D., Fallet-Bianco C.,
RA Soucy J.F., Laberge A.M., Maftei C., Boycott K., Brais B., Boucher R.M.,
RA Rouleau G.A., Katsanis N., Majewski J., Elpeleg O., Kukolich M.K.,
RA Shalev S., Michaud J.L.;
RT "Joubert Syndrome in French Canadians and Identification of Mutations in
RT CEP104.";
RL Am. J. Hum. Genet. 97:744-753(2015).
RN [11]
RP VARIANT OFD6 ARG-1345.
RX PubMed=25846457; DOI=10.1002/ajmg.a.37092;
RA Bayram Y., Aydin H., Gambin T., Akdemir Z.C., Atik M.M., Karaca E.,
RA Karaman A., Pehlivan D., Jhangiani S.N., Gibbs R.A., Lupski J.R.;
RT "Exome sequencing identifies a homozygous C5orf42 variant in a Turkish
RT kindred with oral-facial-digital syndrome type VI.";
RL Am. J. Med. Genet. A 167A:2132-2137(2015).
RN [12]
RP VARIANT OFD6 VAL-1200.
RX PubMed=27081551; DOI=10.1038/hgv.2015.45;
RA Wentzensen I.M., Johnston J.J., Keppler-Noreuil K., Acrich K., David K.,
RA Johnson K.D., Graham J.M. Jr., Sapp J.C., Biesecker L.G.;
RT "Exome sequencing identifies novel mutations in C5orf42 in patients with
RT Joubert syndrome with oral-facial-digital anomalies.";
RL Hum. Genome Var. 2:15045-15045(2015).
RN [13]
RP VARIANTS GLY-322; PHE-875; ARG-1196; GLY-1772 AND SER-2750.
RX PubMed=25920555; DOI=10.1038/ejhg.2015.84;
RA Kroes H.Y., Monroe G.R., van der Zwaag B., Duran K.J., de Kovel C.G.,
RA van Roosmalen M.J., Harakalova M., Nijman I.J., Kloosterman W.P.,
RA Giles R.H., Knoers N.V., van Haaften G.;
RT "Joubert syndrome: genotyping a Northern European patient cohort.";
RL Eur. J. Hum. Genet. 24:214-220(2016).
CC -!- FUNCTION: Involved in ciliogenesis (PubMed:25877302). Involved in the
CC establishment of cell polarity required for directional cell migration.
CC Proposed to act in association with the CPLANE (ciliogenesis and planar
CC polarity effectors) complex. Involved in recruitment of peripheral IFT-
CC A proteins to basal bodies (By similarity).
CC {ECO:0000250|UniProtKB:Q8CE72, ECO:0000305|PubMed:25877302}.
CC -!- SUBUNIT: Interacts with FUZ; INTU and WDPCP; the interactors are
CC proposed to form the core CPLANE (ciliogenesis and planar polarity
CC effectors) complex. {ECO:0000250|UniProtKB:Q8CE72}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}. Cell projection, cilium
CC {ECO:0000250|UniProtKB:Q8CE72}. Note=Localizes to the ciliary
CC transition zone. {ECO:0000250|UniProtKB:Q8CE72}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9H799-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H799-5; Sequence=VSP_044052, VSP_044053, VSP_044054,
CC VSP_044055;
CC -!- DISEASE: Joubert syndrome 17 (JBTS17) [MIM:614615]: A disorder
CC presenting with cerebellar ataxia, oculomotor apraxia, hypotonia,
CC neonatal breathing abnormalities and psychomotor delay.
CC Neuroradiologically, it is characterized by cerebellar vermian
CC hypoplasia/aplasia, thickened and reoriented superior cerebellar
CC peduncles, and an abnormally large interpeduncular fossa, giving the
CC appearance of a molar tooth on transaxial slices (molar tooth sign).
CC Additional variable features include retinal dystrophy and renal
CC disease. {ECO:0000269|PubMed:22425360, ECO:0000269|PubMed:23012439,
CC ECO:0000269|PubMed:26477546}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Orofaciodigital syndrome 6 (OFD6) [MIM:277170]: A form of
CC orofaciodigital syndrome, a group of heterogeneous disorders
CC characterized by malformations of the oral cavity, face and digits, and
CC associated phenotypic abnormalities that lead to the delineation of
CC various subtypes. OFD6 is characterized by metacarpal abnormalities
CC with central polydactyly, cerebellar abnormalities including the molar
CC tooth sign, tongue hamartomas, additional frenula, and upper lip notch.
CC {ECO:0000269|PubMed:24178751, ECO:0000269|PubMed:25846457,
CC ECO:0000269|PubMed:27081551}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH28410.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence and intronic sequence in 5'.; Evidence={ECO:0000305};
CC Sequence=AAI44070.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAI50595.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB14513.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB14513.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential intronic sequence in 5'.; Evidence={ECO:0000305};
CC Sequence=BAB14999.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB14999.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
CC Sequence=BAB15539.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC04822.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AC008925; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC025449; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC028410; AAH28410.1; ALT_SEQ; mRNA.
DR EMBL; BC074774; AAH74774.2; -; mRNA.
DR EMBL; BC144069; AAI44070.1; ALT_INIT; mRNA.
DR EMBL; BC150594; AAI50595.1; ALT_INIT; mRNA.
DR EMBL; AK023293; BAB14513.1; ALT_SEQ; mRNA.
DR EMBL; AK024779; BAB14999.1; ALT_SEQ; mRNA.
DR EMBL; AK026735; BAB15539.1; ALT_INIT; mRNA.
DR EMBL; AK096581; BAC04822.1; ALT_INIT; mRNA.
DR CCDS; CCDS34146.2; -. [Q9H799-1]
DR RefSeq; NP_075561.3; NM_023073.3. [Q9H799-1]
DR BioGRID; 122413; 13.
DR IntAct; Q9H799; 13.
DR MINT; Q9H799; -.
DR STRING; 9606.ENSP00000389014; -.
DR iPTMnet; Q9H799; -.
DR PhosphoSitePlus; Q9H799; -.
DR BioMuta; C5orf42; -.
DR DMDM; 403314397; -.
DR EPD; Q9H799; -.
DR jPOST; Q9H799; -.
DR MassIVE; Q9H799; -.
DR MaxQB; Q9H799; -.
DR PaxDb; Q9H799; -.
DR PeptideAtlas; Q9H799; -.
DR PRIDE; Q9H799; -.
DR ProteomicsDB; 81091; -. [Q9H799-1]
DR Antibodypedia; 51274; 47 antibodies from 8 providers.
DR DNASU; 65250; -.
DR Ensembl; ENST00000508244.5; ENSP00000421690.1; ENSG00000197603.16. [Q9H799-1]
DR GeneID; 65250; -.
DR KEGG; hsa:65250; -.
DR UCSC; uc011cpa.1; human. [Q9H799-1]
DR CTD; 65250; -.
DR DisGeNET; 65250; -.
DR GeneCards; CPLANE1; -.
DR GeneReviews; CPLANE1; -.
DR HGNC; HGNC:25801; CPLANE1.
DR HPA; ENSG00000197603; Low tissue specificity.
DR MalaCards; CPLANE1; -.
DR MIM; 277170; phenotype.
DR MIM; 614571; gene.
DR MIM; 614615; phenotype.
DR neXtProt; NX_Q9H799; -.
DR OpenTargets; ENSG00000197603; -.
DR Orphanet; 475; Joubert syndrome.
DR Orphanet; 65684; Monomelic amyotrophy.
DR Orphanet; 2754; Orofaciodigital syndrome type 6.
DR PharmGKB; PA162380188; -.
DR VEuPathDB; HostDB:ENSG00000197603; -.
DR eggNOG; ENOG502QRD2; Eukaryota.
DR GeneTree; ENSGT00800000124150; -.
DR HOGENOM; CLU_226347_0_0_1; -.
DR InParanoid; Q9H799; -.
DR OMA; QKRGPIP; -.
DR OrthoDB; 55296at2759; -.
DR PhylomeDB; Q9H799; -.
DR TreeFam; TF351288; -.
DR PathwayCommons; Q9H799; -.
DR SignaLink; Q9H799; -.
DR BioGRID-ORCS; 65250; 6 hits in 1064 CRISPR screens.
DR ChiTaRS; C5orf42; human.
DR GeneWiki; C5orf42; -.
DR GenomeRNAi; 65250; -.
DR Pharos; Q9H799; Tbio.
DR PRO; PR:Q9H799; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9H799; protein.
DR Bgee; ENSG00000197603; Expressed in sural nerve and 116 other tissues.
DR ExpressionAtlas; Q9H799; baseline and differential.
DR Genevisible; Q9H799; HS.
DR GO; GO:0035869; C:ciliary transition zone; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0060271; P:cilium assembly; IMP:GO_Central.
DR InterPro; IPR028236; CPLANE1.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR PANTHER; PTHR14492; PTHR14492; 1.
DR Pfam; PF15392; Joubert; 1.
DR SUPFAM; SSF50978; SSF50978; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Ciliopathy;
KW Cilium biogenesis/degradation; Coiled coil; Disease variant;
KW Joubert syndrome; Membrane; Phosphoprotein; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..3197
FT /note="Ciliogenesis and planar polarity effector 1"
FT /id="PRO_0000332133"
FT TRANSMEM 592..612
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 631..651
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1822..1852
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2118..2188
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2453..2477
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2771..2793
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2810..2831
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2982..3013
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 3140..3160
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 2457..2487
FT /evidence="ECO:0000255"
FT COILED 2691..2724
FT /evidence="ECO:0000255"
FT COMPBIAS 2140..2162
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2172..2188
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2455..2477
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2771..2788
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2992..3008
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 2407
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 2604
FT /note="L -> LVGHTYINVIDIEANDLLQ (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044052"
FT VAR_SEQ 2652
FT /note="Q -> QEVTPACLDGKSLRAGITEVKEPSVTSPTPSDIQQNK (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044053"
FT VAR_SEQ 2877..2879
FT /note="RIQ -> SFT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044054"
FT VAR_SEQ 2880..3197
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044055"
FT VARIANT 322
FT /note="W -> G"
FT /evidence="ECO:0000269|PubMed:25920555"
FT /id="VAR_076776"
FT VARIANT 875
FT /note="S -> F (in dbSNP:rs794727154)"
FT /evidence="ECO:0000269|PubMed:25920555"
FT /id="VAR_076777"
FT VARIANT 1127
FT /note="S -> L (in OFD6; dbSNP:rs375009168)"
FT /evidence="ECO:0000269|PubMed:24178751"
FT /id="VAR_072553"
FT VARIANT 1184
FT /note="R -> C (in OFD6; dbSNP:rs1434631255)"
FT /evidence="ECO:0000269|PubMed:24178751"
FT /id="VAR_072554"
FT VARIANT 1193
FT /note="R -> C (in OFD6; dbSNP:rs149170427)"
FT /evidence="ECO:0000269|PubMed:24178751"
FT /id="VAR_072555"
FT VARIANT 1196
FT /note="L -> R"
FT /evidence="ECO:0000269|PubMed:25920555"
FT /id="VAR_076778"
FT VARIANT 1200
FT /note="A -> V (in OFD6; unknown pathological significance;
FT dbSNP:rs141153181)"
FT /evidence="ECO:0000269|PubMed:27081551"
FT /id="VAR_077558"
FT VARIANT 1287
FT /note="D -> H (in OFD6; dbSNP:rs606231261)"
FT /evidence="ECO:0000269|PubMed:24178751"
FT /id="VAR_072556"
FT VARIANT 1336
FT /note="R -> W (in JBTS17; dbSNP:rs367543061)"
FT /evidence="ECO:0000269|PubMed:22425360,
FT ECO:0000269|PubMed:26477546"
FT /id="VAR_068165"
FT VARIANT 1345
FT /note="Q -> R (in OFD6; dbSNP:rs869312898)"
FT /evidence="ECO:0000269|PubMed:25846457"
FT /id="VAR_076779"
FT VARIANT 1437
FT /note="I -> T (in dbSNP:rs6859950)"
FT /id="VAR_042948"
FT VARIANT 1772
FT /note="S -> G (in dbSNP:rs79377186)"
FT /evidence="ECO:0000269|PubMed:25920555"
FT /id="VAR_076780"
FT VARIANT 1794
FT /note="P -> L (may be associated with susceptibility to
FT monomelic amyotrophy; dbSNP:rs75589774)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:22264561"
FT /id="VAR_068166"
FT VARIANT 2033
FT /note="F -> C (in dbSNP:rs10076911)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_042949"
FT VARIANT 2033
FT /note="F -> S (in dbSNP:rs10076911)"
FT /id="VAR_068167"
FT VARIANT 2143
FT /note="I -> V (in dbSNP:rs6884652)"
FT /id="VAR_042950"
FT VARIANT 2592
FT /note="P -> L (in dbSNP:rs16903518)"
FT /id="VAR_042951"
FT VARIANT 2750
FT /note="P -> S (in dbSNP:rs377107065)"
FT /evidence="ECO:0000269|PubMed:25920555"
FT /id="VAR_076781"
FT VARIANT 2837
FT /note="V -> L (in OFD6)"
FT /evidence="ECO:0000269|PubMed:24178751"
FT /id="VAR_072544"
FT VARIANT 3062
FT /note="G -> R (in dbSNP:rs7702892)"
FT /id="VAR_042952"
FT CONFLICT 1788
FT /note="L -> S (in Ref. 1; AAI44070/AAI50595)"
FT /evidence="ECO:0000305"
FT CONFLICT 2325
FT /note="N -> D (in Ref. 2; BAB14999)"
FT /evidence="ECO:0000305"
FT CONFLICT 2612
FT /note="P -> L (in Ref. 2; BAC04822)"
FT /evidence="ECO:0000305"
FT CONFLICT 2767
FT /note="V -> A (in Ref. 2; BAC04822)"
FT /evidence="ECO:0000305"
FT CONFLICT 2786
FT /note="E -> G (in Ref. 2; BAB15539)"
FT /evidence="ECO:0000305"
FT CONFLICT 2810..2811
FT /note="VS -> CQ (in Ref. 1; AAH74774)"
FT /evidence="ECO:0000305"
FT CONFLICT 2828
FT /note="S -> R (in Ref. 2; BAB15539)"
FT /evidence="ECO:0000305"
FT CONFLICT 2831
FT /note="L -> W (in Ref. 2; BAB15539)"
FT /evidence="ECO:0000305"
FT VARIANT Q9H799-5:2684
FT /note="A -> T (in JBTS17)"
FT /evidence="ECO:0000269|PubMed:22425360"
FT /id="VAR_082878"
SQ SEQUENCE 3197 AA; 361746 MW; D84DFC20FE309992 CRC64;
MEIRLEILTS TGIKQKKPWP RVSWLGKEKE AVFLLDDKFI NEINLLSGKI KKKIPSLQPF
LKDVIVLTTS SNDAWLAGVL TTGELFLWNK DQDCLKTIPI TEKPKEMIKA TVASSLRLYL
YVSGNGKRIV LITPSGCIFL WEYLELKNIL SSKSLSLAGR WSQVIPEEAV LLPSTEDKEA
VVNAVFIKNE LFGDCCLCSF TFYSGECLKL TFLAIRWHEN VFTSVRSLPY HVHWAQQDCH
LCSLIPKCES VKSRGALISA FSRDGLTLAV TLNQKDPKAT QVLFINTLNF VTLCGSLKGC
SNKSPVVPAT LIRSYWVGDI SWTHDSLFLA CMLKRGSLVL LTCQGELLTL ITFGCSIEFG
PAEFIPLHPL ITYRPQQFTF QDSNNSVDSS ASDSDPMRQR FSIKAHSRLP YLVISDGYMV
TTLRFLDSLS PSVHMRSLLL DSTQRLEKIY QSVILSKPKG KGLNLRSLNS LRSSLLEHQG
NESSADFTVP KFLQAEETIN ENAADFQDFE AEETNEGRHF PDNLCPFWNK RDDVLCSSMK
EGRLEFASMF DTIHAKDDSE ETDRTITELH SIQKSLLAAW TIGISKTVTE KNLMLNYIVV
CITHFFYILQ FIKCPFPKLD LVLSKSSRHN AWILCIFQLF HQCLSIHYWD IRYKQDVGHL
IKLTSNTVKL LLTQQQKGQL FSEKLLACFY LLKMVADNLN GVYILQPEVI SASADGSKIT
AQDSLVVPIF QMFQDSGFQK NWSWNSFFKI HPQVVNPVQQ PGHRLLILWR ILYKKTLWYQ
AQLNRRVPEA DSQLTEKMTH EASTVKSLLC HLQANLQSTG DCLNQTLELK SINGEECFLL
GSYEKSVQLW KKALQEIEEK GGRRTYFLQI RYYLSLLYCH LYSYNLNDAQ GLCDQLAREI
LRWSQLPVKE NKDFSGAAKS HFECGMVGGV HPEAAVRVVQ SMARFMAAYF TNQQLCILPP
HHVNVLPPLH IKTEQSFRLI PLQHSKVASV VRDQNLSNVW TVEYALELLF IGGLVPEAVW
LAYKLGDWKT SVSIGVAFQL FCKRDSNFMR SKKKSLNLPL RMTPAQIFQE KLQCVLGQPA
SLEAKNEMGS KYKQFTDPIE EEDANLLFGS VQEVLKASVM ADADILSETF QLLIDSAKDF
SKRLWGLVPF GLYLPAPPLY CPQPAILSEE DGDDLLLKAE KNNRQKVSGI LQRVLLLFRA
AQCSFPVAQW YILQLRWARK VMQKIRMKGS LPSLSPFPQS LLNYCKGGIA FFRPGAAGDH
KLDEVSIRAI GCFRELCALC WMLHVRDKLS YSCRQYQKAR ENVKGEKDLE VEFDSCMIEH
CLSAVEWAYR MLPFSRFFNM EELIQDIILS LIGELPPIRK VAEIFVKAFP YPEDVRVPLR
DKYHSLHQRL RHCVVKGPQT EEMMSVVMHS IQKVRVKALK RVQRNIGSFE VNIWEPIEEE
KPDEAPGVDR YSLGTSLSRS TLTELGDSVV HSDADTFSEA LSVEEKSRIN IYQRNAPNHM
ELTSIHKPTD KRKMCNQKEN PTKKEDHEKL SQNTLPVIGV WEFERDDDEY IKFLDLFLSY
ILERDLPYSR DADIPFLTSF SGKLREHELN SLLFDVHTTL KRHQSKTKSQ NVFRAGSCFV
VAPESYESEK SSSLNDEYGM HLENQKLSSS VLVNQGIKPF LQYPSNEVNK NEGMSGLFGL
KQRSIYKIQD DTREKCLIQR SSNHIFWTPK SIKTRRCIFK AIQCNDINPQ EDLPLALNTF
GSIGRLLEWM IRWSNRRLLC DSGITESSSE YSPVIRVKTS TAAILTSLWL LEQPYFATYK
AKNAIIKMVE NRDTGCQIGP NIERESKSDA GGSVAVATPG GTEERNGQNK SCQNILNRMP
TEAKNPDIKE INDDIISITH NTKKEFIDID ENLLEVEAFT EEEMDMHISD YEEDIEESVG
GFRSPSLAIC MMTLPQQLEE EFTEEVQCQR EEPLETIMEE KSTEQKGMIE AFSHPGHTTP
QSMQVDTSSE ISSAQISTYK EKSSSVPLLI SNGVNVASQP PAPTPQKTQR NEFTAQLPDC
SESVRQMLQD EMFKLVQLQQ INFMSLMQIV GSSFANLPDT QQLVQQSQSV HLGESQESNL
RGCGDVEDSN KNLKERFFIK PQSMGENARE PRKNSPHCHE GTIPSGQNST GNVQNVPHGS
IPLCQLNGQP RKKGPIPSSQ NLPSTSFYPA PAGNTHLYLL STPSVVQKAP RLIPHAKTFS
PGDGFPLLQF KSKQEFQPLF LHTGSIPQVP FRPLPQPREA WGLSDSFQPA LPQRAAQTTP
ASHLNVSQYN TEARKKEVEQ KTWAETVITE IPNHVNLDQY VGQENLTPQQ DSSVFIKPEK
LFDVKPGTLE ISPHHSFGLP LLYLPLKPPN MFPSTSRASI TVPSTPIQPI AEERKYPRLS
LLHSHLSPEN RCKKTQLIPL ENLIAFKQSQ QKLTHNLFEQ GDAGHLQLLK VKIEPPEVRQ
GKDSKKRQRR RAEKELQEKR CEKLRRKPNV TFRPENSIIN NDDSEIIKKP KEQQEHCGSH
PLDDFDVPFE MLQDDNTSAG LHFMASVKKK AIGSQDASTN TDPEHEPLTA PQLLVPDVYL
NLKLSSEMSE KPWSPSIPHT VTNLELPVRE EPSNDNVIKQ QSDHLAVPSS AELHYMAASV
TNAVPPHNFK SQGLPKPEFR FKGQSTKSDS AEDYLLWKRL QGVSAACPAP SSAAHQLEHL
SAKLQKIDEQ LLAIQNIAEN IEQDFPKPEM LDLHCDKIGP VDHIEFSSGP EFKKTLASKT
ISISEEVRFL THMDEEDQSD KKETSEPEFS ITENYSGQKT CVFPTADSAV SLSSSSDQNT
TSPGMNSSDE LCESVSVHPL QMTGLTDIAD IIDDLIIKDG VSSEELGLTE QAMGTSRIQH
YSGRHSQRTD KERREIQAWM KRKRKERMAK YLNELAEKRG QEHDPFCPRS NPLYMTSREI
RLRQKMKHEK DRLLLSEHYS RRISQAYGLM NELLSESVQL PTLPQKPLPN KPSPTQSSSC
QHCPSPRGEN QHGHSFLINR PGKVKYMSKP SYIHKRKSFG QPQGSPWPHG TATFTIQKKA
GGAKAAVRKA TQSPVTFQKG SNAPCHSLQH TKKHGSAGLA PQTKQVCVEY EREETVVSPW
TIPSEIHKIL HESHNSLLQD LSPTEEEEPE HPFGVGGVDS VSESTGSILS KLDWNAIEDM
VASVEDQGLS VHWALDL
