CERKL_HUMAN
ID CERKL_HUMAN Reviewed; 558 AA.
AC Q49MI3; B2RPL2; B4DEY1; Q49MH9; Q49MI0; Q49MI1; Q49MI2; Q5DVJ2; Q5DVJ4;
AC Q5DVJ5; Q6UZF6; Q6ZP59;
DT 20-DEC-2005, integrated into UniProtKB/Swiss-Prot.
DT 13-SEP-2005, sequence version 1.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Ceramide kinase-like protein;
GN Name=CERKL;
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] (ISOFORMS 1; 2; 3; 4; 7 AND 8), INVOLVEMENT IN
RP RP26, TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RC TISSUE=Retina;
RX PubMed=14681825; DOI=10.1086/381055;
RA Tuson M., Marfany G., Gonzalez-Duarte R.;
RT "Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal
RT recessive retinitis pigmentosa (RP26).";
RL Am. J. Hum. Genet. 74:128-138(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 5; 7 AND 8), FUNCTION, TISSUE
RP SPECIFICITY, PHOSPHORYLATION, SUBCELLULAR LOCATION, AND MUTAGENESIS OF
RP GLY-260.
RC TISSUE=Brain;
RX PubMed=15708351; DOI=10.1016/j.bbalip.2004.11.012;
RA Bornancin F., Mechtcheriakova D., Stora S., Graf C., Wlachos A., Devay P.,
RA Urtz N., Baumruker T., Billich A.;
RT "Characterization of a ceramide kinase-like protein.";
RL Biochim. Biophys. Acta 1687:31-43(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 9), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 199-558 (ISOFORM 7).
RC TISSUE=Kidney;
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 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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC 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 [6]
RP SUBCELLULAR LOCATION, AND MUTAGENESIS OF 104-LYS--ARG-106.
RX PubMed=19501188; DOI=10.1016/j.bbalip.2009.05.009;
RA Rovina P., Schanzer A., Graf C., Mechtcheriakova D., Jaritz M.,
RA Bornancin F.;
RT "Subcellular localization of ceramide kinase and ceramide kinase-like
RT protein requires interplay of their Pleckstrin Homology domain-containing
RT N-terminal regions together with C-terminal domains.";
RL Biochim. Biophys. Acta 1791:1023-1030(2009).
RN [7]
RP FUNCTION, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=19158957;
RA Tuson M., Garanto A., Gonzalez-Duarte R., Marfany G.;
RT "Overexpression of CERKL, a gene responsible for retinitis pigmentosa in
RT humans, protects cells from apoptosis induced by oxidative stress.";
RL Mol. Vis. 15:168-180(2009).
RN [8]
RP VARIANT RP26 SER-106.
RX PubMed=18978954;
RA Ali M., Ramprasad V.L., Soumittra N., Mohamed M.D., Jafri H., Rashid Y.,
RA Danciger M., McKibbin M., Kumaramanickavel G., Inglehearn C.F.;
RT "A missense mutation in the nuclear localization signal sequence of CERKL
RT (p.R106S) causes autosomal recessive retinal degeneration.";
RL Mol. Vis. 14:1960-1964(2008).
CC -!- FUNCTION: Has no detectable ceramide-kinase activity. Overexpression of
CC CERKL protects cells from apoptosis in oxidative stress conditions.
CC {ECO:0000269|PubMed:15708351, ECO:0000269|PubMed:19158957}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus. Note=Enriched in
CC nucleoli. May shuttle between nucleus and cytoplasm. Isoform 5 is not
CC enriched in the nucleoli.
CC -!- SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm. Nucleus, nucleolus. Golgi
CC apparatus, trans-Golgi network. Endoplasmic reticulum.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=8;
CC Name=1; Synonyms=b;
CC IsoId=Q49MI3-1; Sequence=Displayed;
CC Name=2; Synonyms=a;
CC IsoId=Q49MI3-2; Sequence=VSP_016659;
CC Name=3; Synonyms=d;
CC IsoId=Q49MI3-3; Sequence=VSP_016656;
CC Name=4; Synonyms=c;
CC IsoId=Q49MI3-4; Sequence=VSP_016653;
CC Name=5;
CC IsoId=Q49MI3-5; Sequence=VSP_016659, VSP_016660;
CC Name=7; Synonyms=f;
CC IsoId=Q49MI3-7; Sequence=VSP_016657, VSP_016658;
CC Name=8; Synonyms=e;
CC IsoId=Q49MI3-8; Sequence=VSP_016654, VSP_016655;
CC Name=9;
CC IsoId=Q49MI3-9; Sequence=VSP_042663;
CC -!- TISSUE SPECIFICITY: Isoform 1 and isoform 2 are expressed in adult
CC retina, liver and pancreas as well as in fetal brain, lung and kidney.
CC Isoform 3 is expressed in adult retina as well as in fetal lung and
CC liver. Isoform 4 is expressed in adult retina, lung and kidney as well
CC as in fetal lung and liver. Moderately expressed in retina, kidney,
CC lung, testis, trachea, and pancreas. Weakly expressed in brain,
CC placenta and liver. {ECO:0000269|PubMed:14681825,
CC ECO:0000269|PubMed:15708351, ECO:0000269|PubMed:19158957}.
CC -!- DEVELOPMENTAL STAGE: Expressed in fetal lung, kidney and brain.
CC {ECO:0000269|PubMed:14681825}.
CC -!- PTM: Phosphorylated on serine residues. {ECO:0000269|PubMed:15708351}.
CC -!- DISEASE: Retinitis pigmentosa 26 (RP26) [MIM:608380]: A retinal
CC dystrophy belonging to the group of pigmentary retinopathies. Retinitis
CC pigmentosa is characterized by retinal pigment deposits visible on
CC fundus examination and primary loss of rod photoreceptor cells followed
CC by secondary loss of cone photoreceptors. Patients typically have night
CC vision blindness and loss of midperipheral visual field. As their
CC condition progresses, they lose their far peripheral visual field and
CC eventually central vision as well. {ECO:0000269|PubMed:14681825,
CC ECO:0000269|PubMed:18978954}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: [Isoform 5]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 7]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 8]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC85266.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
CC Sequence=CAG26980.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AY357073; AAR13670.1; -; mRNA.
DR EMBL; AY690329; AAW47988.1; -; mRNA.
DR EMBL; AY690330; AAW47989.1; -; mRNA.
DR EMBL; AY690331; AAW47990.1; -; mRNA.
DR EMBL; AY690332; AAW47991.1; -; mRNA.
DR EMBL; AY690333; AAW47992.1; -; mRNA.
DR EMBL; AJ640141; CAG26695.1; -; mRNA.
DR EMBL; AJ697855; CAG26977.1; -; mRNA.
DR EMBL; AJ697856; CAG26978.1; -; mRNA.
DR EMBL; AJ697858; CAG26980.1; ALT_FRAME; mRNA.
DR EMBL; AK129976; BAC85266.1; ALT_SEQ; mRNA.
DR EMBL; AK293844; BAG57242.1; -; mRNA.
DR EMBL; AC013733; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC020595; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC137498; AAI37499.1; -; mRNA.
DR EMBL; BC137499; AAI37500.1; -; mRNA.
DR CCDS; CCDS33340.1; -. [Q49MI3-4]
DR CCDS; CCDS33341.1; -. [Q49MI3-3]
DR CCDS; CCDS42789.1; -. [Q49MI3-1]
DR CCDS; CCDS46466.1; -. [Q49MI3-2]
DR CCDS; CCDS54425.1; -. [Q49MI3-9]
DR RefSeq; NP_001025482.1; NM_001030311.2. [Q49MI3-1]
DR RefSeq; NP_001025483.1; NM_001030312.2. [Q49MI3-4]
DR RefSeq; NP_001025484.1; NM_001030313.2. [Q49MI3-3]
DR RefSeq; NP_001153749.1; NM_001160277.1. [Q49MI3-9]
DR RefSeq; NP_963842.1; NM_201548.4. [Q49MI3-2]
DR AlphaFoldDB; Q49MI3; -.
DR SMR; Q49MI3; -.
DR BioGRID; 131968; 11.
DR IntAct; Q49MI3; 10.
DR STRING; 9606.ENSP00000341159; -.
DR iPTMnet; Q49MI3; -.
DR PhosphoSitePlus; Q49MI3; -.
DR BioMuta; CERKL; -.
DR DMDM; 84028814; -.
DR MassIVE; Q49MI3; -.
DR PaxDb; Q49MI3; -.
DR PeptideAtlas; Q49MI3; -.
DR PRIDE; Q49MI3; -.
DR Antibodypedia; 51609; 170 antibodies from 20 providers.
DR DNASU; 375298; -.
DR Ensembl; ENST00000339098.9; ENSP00000341159.5; ENSG00000188452.15. [Q49MI3-1]
DR Ensembl; ENST00000374967.6; ENSP00000364106.2; ENSG00000188452.15. [Q49MI3-7]
DR Ensembl; ENST00000374969.6; ENSP00000364108.2; ENSG00000188452.15. [Q49MI3-4]
DR Ensembl; ENST00000374970.6; ENSP00000364109.2; ENSG00000188452.15. [Q49MI3-3]
DR Ensembl; ENST00000409440.7; ENSP00000387080.3; ENSG00000188452.15. [Q49MI3-9]
DR Ensembl; ENST00000410087.8; ENSP00000386725.3; ENSG00000188452.15. [Q49MI3-2]
DR Ensembl; ENST00000421817.5; ENSP00000411466.1; ENSG00000188452.15. [Q49MI3-8]
DR Ensembl; ENST00000452174.5; ENSP00000409198.1; ENSG00000188452.15. [Q49MI3-8]
DR GeneID; 375298; -.
DR KEGG; hsa:375298; -.
DR MANE-Select; ENST00000410087.8; ENSP00000386725.3; NM_201548.5; NP_963842.1. [Q49MI3-2]
DR UCSC; uc002unx.4; human. [Q49MI3-1]
DR CTD; 375298; -.
DR DisGeNET; 375298; -.
DR GeneCards; CERKL; -.
DR GeneReviews; CERKL; -.
DR HGNC; HGNC:21699; CERKL.
DR HPA; ENSG00000188452; Tissue enhanced (lymphoid tissue, retina).
DR MalaCards; CERKL; -.
DR MIM; 608380; phenotype.
DR MIM; 608381; gene.
DR neXtProt; NX_Q49MI3; -.
DR OpenTargets; ENSG00000188452; -.
DR Orphanet; 791; Retinitis pigmentosa.
DR PharmGKB; PA134984780; -.
DR VEuPathDB; HostDB:ENSG00000188452; -.
DR eggNOG; KOG1115; Eukaryota.
DR eggNOG; KOG1116; Eukaryota.
DR GeneTree; ENSGT00940000157578; -.
DR HOGENOM; CLU_013399_2_0_1; -.
DR InParanoid; Q49MI3; -.
DR OMA; XLNNGSM; -.
DR OrthoDB; 681139at2759; -.
DR PhylomeDB; Q49MI3; -.
DR TreeFam; TF314514; -.
DR PathwayCommons; Q49MI3; -.
DR SignaLink; Q49MI3; -.
DR BioGRID-ORCS; 375298; 8 hits in 1075 CRISPR screens.
DR ChiTaRS; CERKL; human.
DR GenomeRNAi; 375298; -.
DR Pharos; Q49MI3; Tbio.
DR PRO; PR:Q49MI3; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q49MI3; protein.
DR Bgee; ENSG00000188452; Expressed in islet of Langerhans and 94 other tissues.
DR ExpressionAtlas; Q49MI3; baseline and differential.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
DR GO; GO:0005794; C:Golgi apparatus; IDA:UniProtKB.
DR GO; GO:0005730; C:nucleolus; IDA:UniProtKB.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IEA:Ensembl.
DR GO; GO:0001917; C:photoreceptor inner segment; IEA:Ensembl.
DR GO; GO:0001750; C:photoreceptor outer segment; IEA:Ensembl.
DR GO; GO:0001727; F:lipid kinase activity; IBA:GO_Central.
DR GO; GO:0003951; F:NAD+ kinase activity; IEA:InterPro.
DR GO; GO:0046625; F:sphingolipid binding; IEA:Ensembl.
DR GO; GO:0043066; P:negative regulation of apoptotic process; IDA:UniProtKB.
DR GO; GO:0016310; P:phosphorylation; IBA:GO_Central.
DR GO; GO:0030148; P:sphingolipid biosynthetic process; IEA:Ensembl.
DR GO; GO:0006665; P:sphingolipid metabolic process; IBA:GO_Central.
DR Gene3D; 3.40.50.10330; -; 1.
DR InterPro; IPR017438; ATP-NAD_kinase_N.
DR InterPro; IPR045363; CERK_C.
DR InterPro; IPR001206; Diacylglycerol_kinase_cat_dom.
DR InterPro; IPR016064; NAD/diacylglycerol_kinase_sf.
DR Pfam; PF19280; CERK_C; 1.
DR Pfam; PF00781; DAGK_cat; 1.
DR SUPFAM; SSF111331; SSF111331; 1.
DR PROSITE; PS50146; DAGK; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Disease variant; Endoplasmic reticulum;
KW Golgi apparatus; Nucleus; Phosphoprotein; Reference proteome;
KW Retinitis pigmentosa.
FT CHAIN 1..558
FT /note="Ceramide kinase-like protein"
FT /id="PRO_0000181356"
FT DOMAIN 164..339
FT /note="DAGKc"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00783"
FT REGION 1..36
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOTIF 2..9
FT /note="Nuclear localization signal 1"
FT /evidence="ECO:0000255"
FT MOTIF 102..106
FT /note="Nuclear localization signal 2"
FT COMPBIAS 7..21
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 160..298
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14681825"
FT /id="VSP_016653"
FT VAR_SEQ 161..205
FT /note="GFPNRPKSLKILLNPQSHKKEATQVYYEKVEPLLKLAGIKTDVTI -> V
FT (in isoform 9)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042663"
FT VAR_SEQ 161..173
FT /note="GFPNRPKSLKILL -> VLSVLVEMDLLAK (in isoform 8)"
FT /evidence="ECO:0000303|PubMed:14681825,
FT ECO:0000303|PubMed:15708351"
FT /id="VSP_016654"
FT VAR_SEQ 174..558
FT /note="Missing (in isoform 8)"
FT /evidence="ECO:0000303|PubMed:14681825,
FT ECO:0000303|PubMed:15708351"
FT /id="VSP_016655"
FT VAR_SEQ 205..300
FT /note="IMEYEGHALSLLKECELQGFDGGHRKPLFAIHWSVQRLFTGMQTLEPSVVCV
FT GGDGSASEVAHALLLRAQKNAGMETDRILTPVRAQLPLGLIPAG -> R (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:14681825"
FT /id="VSP_016656"
FT VAR_SEQ 205..217
FT /note="IMEYEGHALSLLK -> MLSVLVEMDLLAK (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:14681825,
FT ECO:0000303|PubMed:14702039, ECO:0000303|PubMed:15708351"
FT /id="VSP_016657"
FT VAR_SEQ 218..558
FT /note="Missing (in isoform 7)"
FT /evidence="ECO:0000303|PubMed:14681825,
FT ECO:0000303|PubMed:14702039, ECO:0000303|PubMed:15708351"
FT /id="VSP_016658"
FT VAR_SEQ 227..252
FT /note="Missing (in isoform 2 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:14681825,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:15708351"
FT /id="VSP_016659"
FT VAR_SEQ 405..558
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15708351"
FT /id="VSP_016660"
FT VARIANT 106
FT /note="R -> S (in RP26; dbSNP:rs569826109)"
FT /evidence="ECO:0000269|PubMed:18978954"
FT /id="VAR_065182"
FT VARIANT 232
FT /note="L -> F (in dbSNP:rs10185262)"
FT /id="VAR_053688"
FT VARIANT 514
FT /note="E -> G (in dbSNP:rs35955809)"
FT /id="VAR_053689"
FT MUTAGEN 104..106
FT /note="KRR->GGG: Only cytoplasmic."
FT /evidence="ECO:0000269|PubMed:19501188"
FT MUTAGEN 260
FT /note="G->D: Loss of nuclear localization; in isoform 2."
FT /evidence="ECO:0000269|PubMed:15708351"
FT CONFLICT 129
FT /note="E -> D (in Ref. 2; CAG26980)"
FT /evidence="ECO:0000305"
FT CONFLICT 178
FT /note="H -> R (in Ref. 2; CAG26978)"
FT /evidence="ECO:0000305"
FT CONFLICT 210
FT /note="G -> E (in Ref. 2; CAG26977)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 558 AA; 62622 MW; 305B6BB82CE977CB CRC64;
MPWRRRRNRV SALEGGREEE APPEAAAVPP ALLTSPQQTE AAAERILLRG IFEIGRDSCD
VVLSERALRW RPIQPERPAG DSKYDLLCKE EFIELKDIFS VKLKRRCSVK QQRSGTLLGI
TLFICLKKEQ NKLKNSTLDL INLSEDHCDI WFRQFKKILA GFPNRPKSLK ILLNPQSHKK
EATQVYYEKV EPLLKLAGIK TDVTIMEYEG HALSLLKECE LQGFDGGHRK PLFAIHWSVQ
RLFTGMQTLE PSVVCVGGDG SASEVAHALL LRAQKNAGME TDRILTPVRA QLPLGLIPAG
STNVLAHSLH GVPHVITATL HIIMGHVQLV DVCTFSTAGK LLRFGFSAMF GFGGRTLALA
EKYRWMSPNQ RRDFAVVKAL AKLKAEDCEI SFLPFNSSDD VQERRAQGSP KSDCNDQWQM
IQGQFLNVSI MAIPCLCSVA PRGLAPNTRL NNGSMALIIA RNTSRPEFIK HLKRYASVKN
QFNFPFVETY TVEEVKVHPR NNTGGYNPEE EEDETASENC FPWNVDGDLM EVASEVHIRL
HPRLISLYGG SMEEMIPK
