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CE85L_HUMAN
ID   CE85L_HUMAN             Reviewed;         805 AA.
AC   Q5SZL2; A1A4E1; A2A3P2; A2IDE5; F8W6J2; G3V0H3; Q2TAM2; Q5T323; Q7Z5K7;
AC   Q9H289;
DT   21-AUG-2007, integrated into UniProtKB/Swiss-Prot.
DT   21-DEC-2004, sequence version 1.
DT   03-AUG-2022, entry version 127.
DE   RecName: Full=Centrosomal protein of 85 kDa-like {ECO:0000305};
DE   AltName: Full=Serologically defined breast cancer antigen NY-BR-15;
GN   Name=CEP85L {ECO:0000312|HGNC:HGNC:21638}; Synonyms=C6orf204;
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 3), AND VARIANT THR-251.
RC   TISSUE=Testis;
RA   Sha J.H., Zhou Z.M., Li J.M.;
RL   Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=14574404; DOI=10.1038/nature02055;
RA   Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA   Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA   Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA   Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA   Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA   Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA   Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA   Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA   Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA   Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA   French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA   Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA   Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA   Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA   Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA   Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA   Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA   Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA   Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA   Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA   Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA   Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA   Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA   Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA   Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA   Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA   West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA   Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA   Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA   Rogers J., Beck S.;
RT   "The DNA sequence and analysis of human chromosome 6.";
RL   Nature 425:805-811(2003).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS GLY-137
RP   AND THR-251.
RC   TISSUE=Lung;
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   [5]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 1-674 (ISOFORM 4), TISSUE SPECIFICITY,
RP   CHROMOSOMAL TRANSLOCATION WITH PDGFRB, AND POSSIBLE INVOLVEMENT IN
RP   T-LYMPHOBLASTIC LYMPHOMA.
RC   TISSUE=Peripheral blood;
RX   PubMed=21938754; DOI=10.1002/gcc.20930;
RA   Chmielecki J., Peifer M., Viale A., Hutchinson K., Giltnane J., Socci N.D.,
RA   Hollis C.J., Dean R.S., Yenamandra A., Jagasia M., Kim A.S., Dave U.P.,
RA   Thomas R.K., Pao W.;
RT   "Systematic screen for tyrosine kinase rearrangements identifies a novel
RT   C6orf204-PDGFRB fusion in a patient with recurrent T-ALL and an associated
RT   myeloproliferative neoplasm.";
RL   Genes Chromosomes Cancer 51:54-65(2012).
RN   [6]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 260-805 (ISOFORM 1).
RC   TISSUE=Mammary tumor;
RX   PubMed=12747765;
RA   Scanlan M.J., Gout I., Gordon C.M., Williamson B., Stockert E., Gure A.O.,
RA   Jaeger D., Chen Y.-T., Mackay A., O'Hare M.J., Old L.J.;
RT   "Humoral immunity to human breast cancer: antigen definition and
RT   quantitative analysis of mRNA expression.";
RL   Cancer Immun. 1:4-4(2001).
RN   [7]
RP   IDENTIFICATION BY MASS SPECTROMETRY, AND SUBCELLULAR LOCATION [LARGE SCALE
RP   ANALYSIS].
RC   TISSUE=Lymphoblast;
RX   PubMed=14654843; DOI=10.1038/nature02166;
RA   Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M.;
RT   "Proteomic characterization of the human centrosome by protein correlation
RT   profiling.";
RL   Nature 426:570-574(2003).
RN   [8]
RP   IDENTIFICATION BY MASS SPECTROMETRY, AND SUBCELLULAR LOCATION.
RX   PubMed=21399614; DOI=10.1038/emboj.2011.63;
RA   Jakobsen L., Vanselow K., Skogs M., Toyoda Y., Lundberg E., Poser I.,
RA   Falkenby L.G., Bennetzen M., Westendorf J., Nigg E.A., Uhlen M.,
RA   Hyman A.A., Andersen J.S.;
RT   "Novel asymmetrically localizing components of human centrosomes identified
RT   by complementary proteomics methods.";
RL   EMBO J. 30:1520-1535(2011).
RN   [9]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-15 AND SER-207, AND
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=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   [10]
RP   VARIANT [LARGE SCALE ANALYSIS] PHE-345.
RX   PubMed=16959974; DOI=10.1126/science.1133427;
RA   Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA   Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA   Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA   Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA   Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA   Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal cancers.";
RL   Science 314:268-274(2006).
RN   [11]
RP   INVOLVEMENT IN LIS10, VARIANTS LIS10 CYS-58; ASN-65; THR-68 AND ARG-69,
RP   SUBCELLULAR LOCATION, AND FUNCTION.
RX   PubMed=32097630; DOI=10.1016/j.neuron.2020.01.027;
RG   University of Washington Center for Mendelian Genomics;
RA   Tsai M.H., Muir A.M., Wang W.J., Kang Y.N., Yang K.C., Chao N.H., Wu M.F.,
RA   Chang Y.C., Porter B.E., Jansen L.A., Sebire G., Deconinck N., Fan W.L.,
RA   Su S.C., Chung W.H., Almanza Fuerte E.P., Mehaffey M.G., Ng C.C.,
RA   Chan C.K., Lim K.S., Leventer R.J., Lockhart P.J., Riney K., Damiano J.A.,
RA   Hildebrand M.S., Mirzaa G.M., Dobyns W.B., Berkovic S.F., Scheffer I.E.,
RA   Tsai J.W., Mefford H.C.;
RT   "Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior
RT   Predominant Lissencephaly.";
RL   Neuron 106:237.e1-245.e8(2020).
CC   -!- FUNCTION: Plays an essential role in neuronal cell migration.
CC       {ECO:0000269|PubMed:32097630}.
CC   -!- INTERACTION:
CC       Q5SZL2-5; O00233: PSMD9; NbExp=3; IntAct=EBI-12344751, EBI-750973;
CC       Q5SZL2-5; Q8IYF3-3: TEX11; NbExp=3; IntAct=EBI-12344751, EBI-11523345;
CC       Q5SZL2-5; Q8TAU3: ZNF417; NbExp=3; IntAct=EBI-12344751, EBI-740727;
CC   -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing
CC       center, centrosome {ECO:0000269|PubMed:14654843,
CC       ECO:0000269|PubMed:21399614, ECO:0000269|PubMed:32097630}.
CC       Note=Localized specifically to the pericentriolar region.
CC       {ECO:0000269|PubMed:32097630}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=5;
CC       Name=1;
CC         IsoId=Q5SZL2-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q5SZL2-2; Sequence=VSP_027338, VSP_027339, VSP_027340;
CC       Name=3;
CC         IsoId=Q5SZL2-3; Sequence=VSP_027337, VSP_027339, VSP_027340;
CC       Name=4;
CC         IsoId=Q5SZL2-4; Sequence=VSP_027338;
CC       Name=5;
CC         IsoId=Q5SZL2-5; Sequence=VSP_027339, VSP_027340;
CC   -!- TISSUE SPECIFICITY: Isoform 1 and isoform 4 are expressed in spleen,
CC       lymph, thymus, tonsil and peripheral blood leukocytes, with isoform 1
CC       expressed at higher levels. Isoform 4 is detected in K-562 leukemia
CC       cells and in the blood of precursor T lymphoblastic lymphoma (T-ALL)
CC       patients. {ECO:0000269|PubMed:21938754}.
CC   -!- DISEASE: Note=A chromosomal aberration involving CEP85L is found in a
CC       patient with T-lymphoblastic lymphoma (T-ALL) and an associated
CC       myeloproliferative neoplasm (MPN) with eosinophilia. Translocation
CC       t(5;6)(q33-34;q23) with PDGFRB. The translocation fuses the 5'-end of
CC       CEP85L (isoform 4) to the 3'-end of PDGFRB.
CC       {ECO:0000269|PubMed:21938754}.
CC   -!- DISEASE: Lissencephaly 10 (LIS10) [MIM:618873]: A form of
CC       lissencephaly, a disorder of cortical development characterized by
CC       agyria or pachygyria and disorganization of the clear neuronal
CC       lamination of normal six-layered cortex. LIS10 is an autosomal dominant
CC       form clinically characterized by variably delayed development, mildly
CC       to moderately impaired intellectual development, language delay, and
CC       seizures. Some patients have normal early development and borderline to
CC       mild cognitive impairment. {ECO:0000269|PubMed:32097630}. Note=The
CC       disease is caused by variants affecting the gene represented in this
CC       entry.
CC   -!- SIMILARITY: Belongs to the CEP85 family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAI10836.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR   EMBL; AY313778; AAP81009.1; -; mRNA.
DR   EMBL; AL359634; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL390069; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL589993; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; Z99496; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471051; EAW48196.1; -; Genomic_DNA.
DR   EMBL; CH471051; EAW48197.1; -; Genomic_DNA.
DR   EMBL; BC110835; AAI10836.1; ALT_INIT; mRNA.
DR   EMBL; BC126140; AAI26141.1; -; mRNA.
DR   EMBL; BC126142; AAI26143.1; -; mRNA.
DR   EMBL; AF308284; AAG48252.1; -; mRNA.
DR   CCDS; CCDS43498.1; -. [Q5SZL2-1]
DR   CCDS; CCDS5119.2; -. [Q5SZL2-5]
DR   CCDS; CCDS55052.1; -. [Q5SZL2-4]
DR   RefSeq; NP_001035940.1; NM_001042475.2. [Q5SZL2-1]
DR   RefSeq; NP_001171506.1; NM_001178035.1. [Q5SZL2-4]
DR   RefSeq; NP_996804.2; NM_206921.2. [Q5SZL2-5]
DR   RefSeq; XP_011534111.1; XM_011535809.2. [Q5SZL2-1]
DR   RefSeq; XP_016866335.1; XM_017010846.1. [Q5SZL2-4]
DR   AlphaFoldDB; Q5SZL2; -.
DR   SMR; Q5SZL2; -.
DR   BioGRID; 132255; 27.
DR   IntAct; Q5SZL2; 15.
DR   STRING; 9606.ENSP00000357474; -.
DR   iPTMnet; Q5SZL2; -.
DR   PhosphoSitePlus; Q5SZL2; -.
DR   BioMuta; CEP85L; -.
DR   DMDM; 74762226; -.
DR   EPD; Q5SZL2; -.
DR   jPOST; Q5SZL2; -.
DR   MassIVE; Q5SZL2; -.
DR   MaxQB; Q5SZL2; -.
DR   PaxDb; Q5SZL2; -.
DR   PeptideAtlas; Q5SZL2; -.
DR   PRIDE; Q5SZL2; -.
DR   ProteomicsDB; 64080; -. [Q5SZL2-1]
DR   ProteomicsDB; 64081; -. [Q5SZL2-2]
DR   ProteomicsDB; 64082; -. [Q5SZL2-3]
DR   ProteomicsDB; 64083; -. [Q5SZL2-4]
DR   ProteomicsDB; 64084; -. [Q5SZL2-5]
DR   Antibodypedia; 32566; 79 antibodies from 15 providers.
DR   DNASU; 387119; -.
DR   Ensembl; ENST00000360290.7; ENSP00000353434.3; ENSG00000111860.14. [Q5SZL2-3]
DR   Ensembl; ENST00000368488.9; ENSP00000357474.5; ENSG00000111860.14. [Q5SZL2-4]
DR   Ensembl; ENST00000368491.8; ENSP00000357477.3; ENSG00000111860.14. [Q5SZL2-1]
DR   Ensembl; ENST00000392500.7; ENSP00000376288.3; ENSG00000111860.14. [Q5SZL2-2]
DR   Ensembl; ENST00000419517.2; ENSP00000393317.2; ENSG00000111860.14. [Q5SZL2-5]
DR   GeneID; 387119; -.
DR   KEGG; hsa:387119; -.
DR   MANE-Select; ENST00000368491.8; ENSP00000357477.3; NM_001042475.3; NP_001035940.1.
DR   UCSC; uc003pxz.3; human. [Q5SZL2-1]
DR   CTD; 387119; -.
DR   DisGeNET; 387119; -.
DR   GeneCards; CEP85L; -.
DR   HGNC; HGNC:21638; CEP85L.
DR   HPA; ENSG00000111860; Tissue enhanced (testis).
DR   MalaCards; CEP85L; -.
DR   MIM; 618865; gene.
DR   MIM; 618873; phenotype.
DR   neXtProt; NX_Q5SZL2; -.
DR   OpenTargets; ENSG00000111860; -.
DR   PharmGKB; PA134984681; -.
DR   VEuPathDB; HostDB:ENSG00000111860; -.
DR   eggNOG; ENOG502QR5U; Eukaryota.
DR   GeneTree; ENSGT00620000087993; -.
DR   HOGENOM; CLU_020103_1_0_1; -.
DR   InParanoid; Q5SZL2; -.
DR   OMA; SALDCKY; -.
DR   OrthoDB; 489645at2759; -.
DR   PhylomeDB; Q5SZL2; -.
DR   TreeFam; TF331041; -.
DR   PathwayCommons; Q5SZL2; -.
DR   SignaLink; Q5SZL2; -.
DR   BioGRID-ORCS; 387119; 12 hits in 1074 CRISPR screens.
DR   ChiTaRS; CEP85L; human.
DR   GenomeRNAi; 387119; -.
DR   Pharos; Q5SZL2; Tbio.
DR   PRO; PR:Q5SZL2; -.
DR   Proteomes; UP000005640; Chromosome 6.
DR   RNAct; Q5SZL2; protein.
DR   Bgee; ENSG00000111860; Expressed in thymus and 195 other tissues.
DR   ExpressionAtlas; Q5SZL2; baseline and differential.
DR   Genevisible; Q5SZL2; HS.
DR   GO; GO:0005813; C:centrosome; IBA:GO_Central.
DR   GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR   GO; GO:0000242; C:pericentriolar material; IDA:UniProtKB.
DR   GO; GO:0001764; P:neuron migration; IMP:UniProtKB.
DR   InterPro; IPR040210; Cep85/Cep85L.
DR   InterPro; IPR029778; CEP85L.
DR   PANTHER; PTHR31075; PTHR31075; 1.
DR   PANTHER; PTHR31075:SF2; PTHR31075:SF2; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Chromosomal rearrangement; Coiled coil; Cytoplasm;
KW   Cytoskeleton; Disease variant; Lissencephaly; Phosphoprotein;
KW   Reference proteome.
FT   CHAIN           1..805
FT                   /note="Centrosomal protein of 85 kDa-like"
FT                   /id="PRO_0000297676"
FT   REGION          1..27
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          50..89
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COILED          439..682
FT                   /evidence="ECO:0000255"
FT   COMPBIAS        63..89
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   SITE            674..675
FT                   /note="Breakpoint for translocation to form the CEP85L-
FT                   PDGFRB fusion protein"
FT   MOD_RES         15
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:23186163"
FT   MOD_RES         207
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:23186163"
FT   VAR_SEQ         1..102
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|Ref.1"
FT                   /id="VSP_027337"
FT   VAR_SEQ         1..24
FT                   /note="MWGRFLAPEASGRDSPGGARSFPA -> MIWRNNWKSTTGRLNVKLQSDKLQ
FT                   HGC (in isoform 2 and isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:15489334,
FT                   ECO:0000303|PubMed:21938754"
FT                   /id="VSP_027338"
FT   VAR_SEQ         480..496
FT                   /note="LKTRDRYISSLKKKCQK -> VGFSNKVELGQQHFLSI (in isoform
FT                   2, isoform 3 and isoform 5)"
FT                   /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.1"
FT                   /id="VSP_027339"
FT   VAR_SEQ         497..805
FT                   /note="Missing (in isoform 2, isoform 3 and isoform 5)"
FT                   /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.1"
FT                   /id="VSP_027340"
FT   VARIANT         58
FT                   /note="S -> C (in LIS10)"
FT                   /evidence="ECO:0000269|PubMed:32097630"
FT                   /id="VAR_084269"
FT   VARIANT         65
FT                   /note="D -> N (in LIS10)"
FT                   /evidence="ECO:0000269|PubMed:32097630"
FT                   /id="VAR_084270"
FT   VARIANT         68
FT                   /note="I -> T (in LIS10; unknown pathological
FT                   significance)"
FT                   /evidence="ECO:0000269|PubMed:32097630"
FT                   /id="VAR_084271"
FT   VARIANT         69
FT                   /note="G -> R (in LIS10; unknown pathological
FT                   significance)"
FT                   /evidence="ECO:0000269|PubMed:32097630"
FT                   /id="VAR_084272"
FT   VARIANT         137
FT                   /note="S -> G (in dbSNP:rs3734381)"
FT                   /evidence="ECO:0000269|PubMed:15489334"
FT                   /id="VAR_034670"
FT   VARIANT         166
FT                   /note="D -> V (in dbSNP:rs9489444)"
FT                   /id="VAR_034671"
FT   VARIANT         251
FT                   /note="P -> T (in dbSNP:rs3734382)"
FT                   /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1"
FT                   /id="VAR_034672"
FT   VARIANT         345
FT                   /note="S -> F (in a breast cancer sample; somatic
FT                   mutation)"
FT                   /evidence="ECO:0000269|PubMed:16959974"
FT                   /id="VAR_036247"
FT   VARIANT         532
FT                   /note="Q -> H (in dbSNP:rs9489410)"
FT                   /id="VAR_053941"
FT   VARIANT         640
FT                   /note="M -> V (in dbSNP:rs7743702)"
FT                   /id="VAR_053942"
SQ   SEQUENCE   805 AA;  91808 MW;  9BFC71F0DD13A9CF CRC64;
     MWGRFLAPEA SGRDSPGGAR SFPAGPDYSS AWLPANESLW QATTVPSNHR NNHIRRHSIA
     SDSGDTGIGT SCSDSVEDHS TSSGTLSFKP SQSLITLPTA HVMPSNSSAS ISKLRESLTP
     DGSKWSTSLM QTLGNHSRGE QDSSLDMKDF RPLRKWSSLS KLTAPDNCGQ GGTVCREESR
     NGLEKIGKAK ALTSQLRTIG PSCLHDSMEM LRLEDKEINK KRSSTLDCKY KFESCSKEDF
     RASSSTLRRQ PVDMTYSALP ESKPIMTSSE AFEPPKYLML GQQAVGGVPI QPSVRTQMWL
     TEQLRTNPLE GRNTEDSYSL APWQQQQIED FRQGSETPMQ VLTGSSRQSY SPGYQDFSKW
     ESMLKIKEGL LRQKEIVIDR QKQQITHLHE RIRDNELRAQ HAMLGHYVNC EDSYVASLQP
     QYENTSLQTP FSEESVSHSQ QGEFEQKLAS TEKEVLQLNE FLKQRLSLFS EEKKKLEEKL
     KTRDRYISSL KKKCQKESEQ NKEKQRRIET LEKYLADLPT LDDVQSQSLQ LQILEEKNKN
     LQEALIDTEK KLEEIKKQCQ DKETQLICQK KKEKELVTTV QSLQQKVERC LEDGIRLPML
     DAKQLQNEND NLRQQNETAS KIIDSQQDEI DRMILEIQSM QGKLSKEKLT TQKMMEELEK
     KERNVQRLTK ALLENQRQTD ETCSLLDQGQ EPDQSRQQTV LSKRPLFDLT VIDQLFKEMS
     CCLFDLKALC SILNQRAQGK EPNLSLLLGI RSMNCSAEET ENDHSTETLT KKLSDVCQLR
     RDIDELRTTI SDRYAQDMGD NCITQ
 
 
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