ID   ALMS1_HUMAN             Reviewed;        4168 AA.
AC   Q8TCU4; A0A087WZY3; Q53S05; Q580Q8; Q86VP9; Q9Y4G4;
DT   07-MAR-2006, integrated into UniProtKB/Swiss-Prot.
DT   28-MAR-2018, sequence version 4.
DT   02-SEP-2026, entry version 186.
DE   RecName: Full=Centrosome-associated protein ALMS1 {ECO:0000305};
DE   AltName: Full=Alstrom syndrome protein 1;
GN   Name=ALMS1; Synonyms=KIAA0328;
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), VARIANTS PRO-525 DEL; GLY-672 AND
RP   ARG-2112, TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RC   TISSUE=Lymphoblast;
RX   PubMed=11941370; DOI=10.1038/ng874;
RA   Hearn T., Renforth G.L., Spalluto C., Hanley N.A., Piper K., Brickwood S.,
RA   White C., Connolly V., Taylor J.F.N., Russell-Eggitt I., Bonneau D.,
RA   Walker M., Wilson D.I.;
RT   "Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino
RT   acids, causes Alstrom syndrome.";
RL   Nat. Genet. 31:79-83(2002).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT PRO-525 DEL.
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 2067-4168 (ISOFORM 2).
RC   TISSUE=Brain;
RX   PubMed=9205841; DOI=10.1093/dnares/4.2.141;
RA   Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N.,
RA   Tanaka A., Kotani H., Nomura N., Ohara O.;
RT   "Prediction of the coding sequences of unidentified human genes. VII. The
RT   complete sequences of 100 new cDNA clones from brain which can code for
RT   large proteins in vitro.";
RL   DNA Res. 4:141-150(1997).
RN   [4]
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   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2401-4168 (ISOFORM 3), AND
RP   VARIANTS ASN-2575 AND HIS-2673.
RC   TISSUE=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   [6]
RP   INVOLVEMENT IN ALSTROM SYNDROME, TISSUE SPECIFICITY, AND DEVELOPMENTAL
RP   STAGE.
RX   PubMed=11941369; DOI=10.1038/ng867;
RA   Collin G.B., Marshall J.D., Ikeda A., So W.V., Russell-Eggitt I.,
RA   Maffei P., Beck S., Boerkoel C., Sicolo N., Martin M., Nishina P.M.,
RA   Naggert J.K.;
RT   "Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory
RT   degeneration in Alstrom syndrome.";
RL   Nat. Genet. 31:74-78(2002).
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   SUBCELLULAR LOCATION, AND POSSIBLE FUNCTION.
RX   PubMed=15855349; DOI=10.2337/diabetes.54.5.1581;
RA   Hearn T., Spalluto C., Phillips V.J., Renforth G.L., Copin N., Hanley N.A.,
RA   Wilson D.I.;
RT   "Subcellular localization of ALMS1 supports involvement of centrosome and
RT   basal body dysfunction in the pathogenesis of obesity, insulin resistance,
RT   and type 2 diabetes.";
RL   Diabetes 54:1581-1587(2005).
RN   [9]
RP   FUNCTION.
RX   PubMed=17954613; DOI=10.1083/jcb.200707181;
RA   Graser S., Stierhof Y.-D., Lavoie S.B., Gassner O.S., Lamla S.,
RA   Le Clech M., Nigg E.A.;
RT   "Cep164, a novel centriole appendage protein required for primary cilium
RT   formation.";
RL   J. Cell Biol. 179:321-330(2007).
RN   [10]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Cervix carcinoma;
RX   PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA   Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA   Elledge S.J., Gygi S.P.;
RT   "A quantitative atlas of mitotic phosphorylation.";
RL   Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN   [11]
RP   SUBCELLULAR LOCATION, AND POSSIBLE FUNCTION.
RX   PubMed=20844083; DOI=10.1091/mbc.e10-03-0246;
RA   Knorz V.J., Spalluto C., Lessard M., Purvis T.L., Adigun F.F., Collin G.B.,
RA   Hanley N.A., Wilson D.I., Hearn T.;
RT   "Centriolar association of ALMS1 and likely centrosomal functions of the
RT   ALMS motif-containing proteins C10orf90 and KIAA1731.";
RL   Mol. Biol. Cell 21:3617-3629(2010).
RN   [12]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2632, AND IDENTIFICATION BY
RP   MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Cervix carcinoma;
RX   PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA   Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA   Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT   "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT   site occupancy during mitosis.";
RL   Sci. Signal. 3:RA3-RA3(2010).
RN   [13]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-464; SER-1189; SER-2143;
RP   SER-2466; SER-2632 AND SER-2805, AND IDENTIFICATION BY MASS SPECTROMETRY
RP   [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   [14]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2466, 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).
CC   -!- FUNCTION: Involved in PCM1-dependent intracellular transport. Required,
CC       directly or indirectly, for the localization of NCAPD2 to the proximal
CC       ends of centrioles. Required for proper formation and/or maintenance of
CC       primary cilia (PC), microtubule-based structures that protrude from the
CC       surface of epithelial cells. {ECO:0000269|PubMed:17954613}.
CC   -!- INTERACTION:
CC       Q8TCU4; Q9NRI5: DISC1; NbExp=3; IntAct=EBI-308651, EBI-529989;
CC   -!- SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton, microtubule
CC       organizing center, centrosome {ECO:0000269|PubMed:14654843}. Cytoplasm,
CC       cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, spindle pole.
CC       Note=Associated with centrosomes and basal bodies at the base of
CC       primary cilia. Specifically locates to the proximal ends of centrioles
CC       and basal bodies. Colocalizes partially with NCAPD2 at these sites.
CC       During mitosis localizes to both spindle poles.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q8TCU4-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8TCU4-2; Sequence=VSP_017349;
CC       Name=3;
CC         IsoId=Q8TCU4-3; Sequence=VSP_017347, VSP_017348;
CC   -!- TISSUE SPECIFICITY: Expressed in all tissues tested including adipose
CC       and pancreas. Expressed by beta-cells of the islets in the pancreas (at
CC       protein level). {ECO:0000269|PubMed:11941369,
CC       ECO:0000269|PubMed:11941370}.
CC   -!- DEVELOPMENTAL STAGE: Widely expressed in fetal tissues. Detected in
CC       fetal pancreas, skeletal muscle, liver, kidney and brain (at protein
CC       level). Expressed in fetal aorta and brain.
CC       {ECO:0000269|PubMed:11941369, ECO:0000269|PubMed:11941370}.
CC   -!- DISEASE: Alstrom syndrome (ALMS) [MIM:203800]: A rare autosomal
CC       recessive disorder characterized by progressive cone-rod retinal
CC       dystrophy, neurosensory hearing loss, early childhood obesity and
CC       diabetes mellitus type 2. Dilated cardiomyopathy, acanthosis nigricans,
CC       male hypogonadism, hypothyroidism, developmental delay and hepatic
CC       dysfunction can also be associated with the syndrome.
CC       {ECO:0000269|PubMed:11941369, ECO:0000269|PubMed:11941370}. Note=The
CC       disease is caused by variants affecting the gene represented in this
CC       entry.
CC   -!- SIMILARITY: Belongs to the ALMS1 family. {ECO:0000305}.
CC   ---------------------------------------------------------------------------
CC   Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC   Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC   ---------------------------------------------------------------------------
DR   EMBL; AJ417593; CAD10391.2; -; mRNA.
DR   EMBL; AC074008; AAY24208.1; -; Genomic_DNA.
DR   EMBL; AC092653; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; KF573641; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC096546; AAX82023.1; -; Genomic_DNA.
DR   EMBL; AB002326; BAA20786.3; -; mRNA.
DR   EMBL; BC035025; AAH35025.1; -; mRNA.
DR   EMBL; BC050330; AAH50330.1; -; mRNA.
DR   CCDS; CCDS42697.1; -. [Q8TCU4-1]
DR   RefSeq; NP_001365383.1; NM_001378454.1. [Q8TCU4-1]
DR   RefSeq; NP_055935.4; NM_015120.4.
DR   BioGRID; 113598; 187.
DR   FunCoup; Q8TCU4; 1592.
DR   IntAct; Q8TCU4; 98.
DR   MINT; Q8TCU4; -.
DR   NDEx; IQUERY-CP-ALMS1; 3 NDEx IQuery Curated Pathways.
DR   STRING; 9606.ENSP00000482968; -.
DR   CarbonylDB; Q8TCU4; -.
DR   GlyCosmos; Q8TCU4; 13 sites, 1 glycan.
DR   GlyGen; Q8TCU4; 56 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (51 sites).
DR   iPTMnet; Q8TCU4; -.
DR   PhosphoSitePlus; Q8TCU4; -.
DR   BioMuta; ALMS1; -.
DR   DMDM; 296439448; -.
DR   jPOST; Q8TCU4; -.
DR   MassIVE; Q8TCU4; -.
DR   PaxDb; 9606-ENSP00000482968; -.
DR   PeptideAtlas; Q8TCU4; -.
DR   ProteomicsDB; 74171; -. [Q8TCU4-1]
DR   ProteomicsDB; 74172; -. [Q8TCU4-2]
DR   ProteomicsDB; 74173; -. [Q8TCU4-3]
DR   Pumba; Q8TCU4; -.
DR   Antibodypedia; 8144; 129 antibodies from 27 providers.
DR   DNASU; 7840; -.
DR   Ensembl; ENST00000613296.6; ENSP00000482968.1; ENSG00000116127.20. [Q8TCU4-1]
DR   GeneID; 7840; -.
DR   KEGG; hsa:7840; -.
DR   MANE-Select; ENST00000613296.6; ENSP00000482968.1; NM_001378454.1; NP_001365383.1.
DR   AGR; HGNC:428; -.
DR   ClinPGx; PA24721; -.
DR   CTD; 7840; -.
DR   DisGeNET; 7840; -.
DR   GeneCards; ALMS1; -.
DR   GeneReviews; ALMS1; -.
DR   HGNC; HGNC:428; ALMS1.
DR   HPA; ENSG00000116127; Tissue enhanced (testis).
DR   MalaCards; ALMS1; -.
DR   MIM; 203800; phenotype.
DR   MIM; 606844; gene.
DR   OpenTargets; ENSG00000116127; -.
DR   Orphanet; 64; Alstroem syndrome.
DR   Orphanet; 65; Leber congenital amaurosis.
DR   Orphanet; 364055; Severe early-childhood-onset retinal dystrophy.
DR   VEuPathDB; HostDB:ENSG00000116127; -.
DR   eggNOG; KOG4613; Eukaryota.
DR   GeneTree; ENSGT00940000153123; -.
DR   InParanoid; Q8TCU4; -.
DR   OMA; PYSQRDQ; -.
DR   OrthoDB; 6163239at2759; -.
DR   PAN-GO; Q8TCU4; 3 GO annotations based on evolutionary models.
DR   PhylomeDB; Q8TCU4; -.
DR   PathwayCommons; Q8TCU4; -.
DR   Reactome; R-HSA-2565942; Regulation of PLK1 Activity at G2/M Transition.
DR   Reactome; R-HSA-380259; Loss of Nlp from mitotic centrosomes.
DR   Reactome; R-HSA-380270; Recruitment of mitotic centrosome proteins and complexes.
DR   Reactome; R-HSA-380284; Loss of proteins required for interphase microtubule organization from the centrosome.
DR   Reactome; R-HSA-380320; Recruitment of NuMA to mitotic centrosomes.
DR   Reactome; R-HSA-5620912; Anchoring of the basal body to the plasma membrane.
DR   Reactome; R-HSA-8854518; AURKA Activation by TPX2.
DR   SignaLink; Q8TCU4; -.
DR   Agora; ENSG00000116127; -.
DR   BioGRID-ORCS; 7840; 14 hits in 1157 CRISPR screens.
DR   CD-CODE; 8C2F96ED; Centrosome.
DR   ChiTaRS; ALMS1; human.
DR   GenomeRNAi; 7840; -.
DR   Pharos; Q8TCU4; Tbio.
DR   PRO; PR:Q8TCU4; -.
DR   Proteomes; UP000005640; Chromosome 2.
DR   RNAct; Q8TCU4; protein.
DR   Bgee; ENSG00000116127; Expressed in buccal mucosa cell and 202 other cell types or tissues.
DR   ExpressionAtlas; Q8TCU4; baseline and differential.
DR   GO; GO:0005814; C:centriole; IDA:HPA.
DR   GO; GO:0005813; C:centrosome; IDA:UniProtKB.
DR   GO; GO:0036064; C:ciliary basal body; IDA:HPA.
DR   GO; GO:0005829; C:cytosol; IDA:HPA.
DR   GO; GO:0015630; C:microtubule cytoskeleton; IDA:HPA.
DR   GO; GO:0000922; C:spindle pole; IEA:UniProtKB-SubCell.
DR   GO; GO:0016197; P:endosomal transport; IMP:MGI.
DR   GO; GO:0120162; P:positive regulation of cold-induced thermogenesis; ISS:YuBioLab.
DR   GO; GO:0046599; P:regulation of centriole replication; IBA:GO_Central.
DR   GO; GO:0051492; P:regulation of stress fiber assembly; IMP:MGI.
DR   InterPro; IPR029299; ALMS_motif.
DR   InterPro; IPR040972; ALMS_repeat.
DR   PANTHER; PTHR21553; ALMS1-RELATED; 1.
DR   PANTHER; PTHR21553:SF22; CENTROSOME-ASSOCIATED PROTEIN ALMS1; 1.
DR   Pfam; PF15309; ALMS_motif; 1.
DR   Pfam; PF18727; ALMS_repeat; 34.
PE   1: Evidence at protein level;
KW   Alternative splicing; Cell projection; Ciliopathy; Cilium;
KW   Cone-rod dystrophy; Cytoplasm; Cytoskeleton; Deafness; Diabetes mellitus;
KW   Obesity; Phosphoprotein; Proteomics identification; Reference proteome;
KW   Repeat.
FT   CHAIN           1..4168
FT                   /note="Centrosome-associated protein ALMS1"
FT                   /id="PRO_0000225592"
FT   REPEAT          539..585
FT                   /note="1"
FT   REPEAT          586..632
FT                   /note="2"
FT   REPEAT          633..679
FT                   /note="3"
FT   REPEAT          680..726
FT                   /note="4"
FT   REPEAT          727..774
FT                   /note="5"
FT   REPEAT          775..821
FT                   /note="6"
FT   REPEAT          822..871
FT                   /note="7"
FT   REPEAT          872..918
FT                   /note="8"
FT   REPEAT          919..965
FT                   /note="9"
FT   REPEAT          966..1013
FT                   /note="10"
FT   REPEAT          1014..1060
FT                   /note="11"
FT   REPEAT          1061..1107
FT                   /note="12"
FT   REPEAT          1108..1155
FT                   /note="13"
FT   REPEAT          1156..1202
FT                   /note="14"
FT   REPEAT          1203..1249
FT                   /note="15"
FT   REPEAT          1250..1297
FT                   /note="16"
FT   REPEAT          1298..1344
FT                   /note="17"
FT   REPEAT          1345..1392
FT                   /note="18"
FT   REPEAT          1393..1439
FT                   /note="19"
FT   REPEAT          1440..1486
FT                   /note="20"
FT   REPEAT          1487..1534
FT                   /note="21"
FT   REPEAT          1535..1581
FT                   /note="22"
FT   REPEAT          1582..1628
FT                   /note="23"
FT   REPEAT          1629..1675
FT                   /note="24"
FT   REPEAT          1676..1722
FT                   /note="25"
FT   REPEAT          1723..1769
FT                   /note="26"
FT   REPEAT          1770..1816
FT                   /note="27"
FT   REPEAT          1817..1861
FT                   /note="28"
FT   REPEAT          1862..1906
FT                   /note="29"
FT   REPEAT          1907..1951
FT                   /note="30"
FT   REPEAT          1952..1999
FT                   /note="31"
FT   REPEAT          2060..2105
FT                   /note="32"
FT   REPEAT          2106..2152
FT                   /note="33"
FT   REPEAT          2153..2200
FT                   /note="34"
FT   REGION          1..69
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          539..2200
FT                   /note="34 X 47 AA approximate tandem repeat"
FT   REGION          558..579
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          606..625
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          699..718
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          735..769
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          841..865
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          946..969
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          983..1007
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          1027..1055
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          1221..1241
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          1786..1806
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          2456..2477
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          2600..2621
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          2753..2828
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          2892..2912
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          3283..3310
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          3389..3426
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          3566..3594
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          3643..3704
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          4036..4167
FT                   /note="ALMS motif"
FT   COMPBIAS        1..29
FT                   /note="Acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        30..40
FT                   /note="Low complexity"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        49..58
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        564..574
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        609..622
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        705..715
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        989..1003
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1228..1240
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1796..1806
FT                   /note="Low complexity"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        2754..2766
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        2767..2779
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        2780..2793
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        2800..2816
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        2817..2828
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        3294..3305
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        3392..3404
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        3405..3416
FT                   /note="Low complexity"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        3649..3664
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        3680..3694
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        3695..3704
FT                   /note="Basic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   MOD_RES         464
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:23186163"
FT   MOD_RES         1189
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:23186163"
FT   MOD_RES         2143
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:23186163"
FT   MOD_RES         2466
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:23186163,
FT                   ECO:0007744|PubMed:24275569"
FT   MOD_RES         2632
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:20068231,
FT                   ECO:0007744|PubMed:23186163"
FT   MOD_RES         2805
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:23186163"
FT   VAR_SEQ         3851..3859
FT                   /note="ANHVISSDS -> HGYRFHLAM (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_017347"
FT   VAR_SEQ         3860..4167
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_017348"
FT   VAR_SEQ         4122..4167
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:9205841"
FT                   /id="VSP_017349"
FT   VARIANT         525
FT                   /note="Missing (in dbSNP:rs72540761)"
FT                   /evidence="ECO:0000269|PubMed:11941370,
FT                   ECO:0000269|PubMed:15815621"
FT                   /id="VAR_080194"
FT   VARIANT         672
FT                   /note="V -> G (in dbSNP:rs2037814)"
FT                   /evidence="ECO:0000269|PubMed:11941370"
FT                   /id="VAR_025433"
FT   VARIANT         1413
FT                   /note="G -> A (in dbSNP:rs886038612)"
FT                   /id="VAR_056734"
FT   VARIANT         1876
FT                   /note="I -> V (in dbSNP:rs6546838)"
FT                   /id="VAR_059575"
FT   VARIANT         2112
FT                   /note="S -> R (in dbSNP:rs6724782)"
FT                   /evidence="ECO:0000269|PubMed:11941370"
FT                   /id="VAR_025434"
FT   VARIANT         2285
FT                   /note="R -> P (in dbSNP:rs6546839)"
FT                   /id="VAR_059576"
FT   VARIANT         2575
FT                   /note="S -> N (in dbSNP:rs3820700)"
FT                   /evidence="ECO:0000269|PubMed:15489334"
FT                   /id="VAR_025435"
FT   VARIANT         2673
FT                   /note="D -> H (in dbSNP:rs2017116)"
FT                   /evidence="ECO:0000269|PubMed:15489334"
FT                   /id="VAR_025436"
FT   VARIANT         2857
FT                   /note="N -> S (in dbSNP:rs10193972)"
FT                   /id="VAR_059577"
FT   VARIANT         3435
FT                   /note="K -> E (in dbSNP:rs34071195)"
FT                   /id="VAR_059578"
FT   CONFLICT        13
FT                   /note="E -> EE (in Ref. 1; CAD10391)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        524
FT                   /note="S -> SP (in Ref. 1; CAD10391)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        3417
FT                   /note="Q -> L (in Ref. 5; AAH35025/AAH50330)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        4030
FT                   /note="R -> K (in Ref. 1; CAD10391 and 3; BAA20786)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   4168 AA;  461062 MW;  4A0D55F656316277 CRC64;
     MEPEDLPWPG ELEEEEEEEE EEEEEEEEAA AAAAANVDDV VVVEEVEEEA GRELDSDSHY
     GPQHLESIDD EEDEEAKAWL QAHPGRILPP LSPPQHRYSE GERTSLEKIV PLTCHVWQQI
     VYQGNSRTQI SDTNVVCLET TAQRGSGDDQ KTESWHCLPQ EMDSSQTLDT SQTRFNVRTE
     DTEVTDFPSL EEGILTQSEN QVKEPNRDLF CSPLLVIQDS FASPDLPLLT CLTQDQEFAP
     DSLFHQSELS FAPLRGIPDK SEDTEWSSRP SEVSEALFQA TAEVASDLAS SRFSVSQHPL
     IGSTAVGSQC PFLPSEQGNN EETISSVDEL KIPKDCDRYD DLCSYMSWKT RKDTQWPENN
     LADKDQVSVA TSFDITDENI ATKRSDHFDA ARSYGQYWTQ EDSSKQAETY LTKGLQGKVE
     SDVITLDGLN ENAVVCSERV AELQRKPTRE SEYHSSDLRM LRMSPDTVPK APKHLKAGDT
     SKGGIAKVTQ SNLKSGITTT PVDSDIGSHL SLSLEDLSQL AVSSPLETTT GQHTDTLNQK
     TLADTHLTEE TLKVTAIPEP ADQKTATPTV LSSSHSHRGK PSIFYQQGLP DSHLTEEALK
     VSAAPGLADQ TTGMSTLTST SYSHREKPGT FYQQELPESN LTEEPLEVSA APGPVEQKTG
     IPTVSSTSHS HVEDLLFFYR QTLPDGHLTD QALKVSAVSG PADQKTGTAT VLSTPHSHRE
     KPGIFYQQEF ADSHQTEETL TKVSATPGPA DQKTEIPAVQ SSSYSQREKP SILYPQDLAD
     SHLPEEGLKV SAVAGPADQK TGLPTVPSSA YSHREKLLVF YQQALLDSHL PEEALKVSAV
     SGPADGKTGT PAVTSTSSAS SSLGEKPSAF YQQTLPNSHL TEEALKVSIV PGPGDQKTGI
     PSAPSSFYSH REKPIIFSQQ TLPDFLFPEE ALKVSAVSVL AAQKTGTPTV SSNSHSHSEK
     SSVFYQQELP DSDLPRESLK MSAIPGLTDQ KTVPTPTVPS GSFSHREKPS IFYQQEWPDS
     YATEKALKVS TGPGPADQKT EIPAVQSSSY PQREKPSVLY PQVLSDSHLP EESLKVSAFP
     GPADQMTDTP AVPSTFYSQR EKPGIFYQQT LPESHLPKEA LKISVAPGLA DQKTGTPTVT
     STSYSQHREK PSIFHQQALP GTHIPEEAQK VSAVTGPGNQ KTWIPRVLST FYSQREKPGI
     FYQQTLPGSH IPEEAQKVSP VLGPADQKTG TPTPTSASYS HTEKPGIFYQ QVLPDNHPTE
     EALKISVASE PVDQTTGTPA VTSTSYSQYR EKPSIFYQQS LPSSHLTEEA KNVSAVPGPA
     DQKTVIPILP STFYSHTEKP GVFYQQVLPH SHPTEEALKI SVASEPVDQT TGTPTVTSTS
     YSQHTEKPSI FYQQSLPGSH LTEEAKNVSA VPGPGDRKTG IPTLPSTFYS HTEKPGSFYQ
     QVLPHSHLPE EALEVSVAPG PVDQTIGTPT VTSPSSSFGE KPIVIYKQAF PEGHLPEESL
     KVSVAPGPVG QTTGAPTITS PSYSQHRAKS GSFYQLALLG SQIPEEALRV SSAPGPADQT
     TGIPTITSTS YSFGEKPIVN YKQAFPDGHL PEEALKVSIV SGPTEKKTDI PAGPLGSSAL
     GEKPITFYRQ ALLDSPLNKE VVKVSAAPGP ADQKTETLPV HSTSYSNRGK PVIFYQQTLS
     DSHLPEEALK VPPVPGPDAQ KTETPSVSSS LYSYREKPIV FYQQALPDSE LTQEALKVSA
     VPQPADQKTG LSTVTSSFYS HTEKPNISYQ QELPDSHLTE EALKVSNVPG PADQKTGVST
     VTSTSYSHRE KPIVSYQREL PHFTEAGLKI LRVPGPADQK TGINILPSNS YPQREHSVIS
     YEQELPDLTE VTLKAIGVPG PADQKTGIQI ASSSSYSNRE KASIFHQQEL PDVTEEALNV
     FVVPGQGDRK TEIPTVPLSY YSRREKPSVI SQQELPDSHL TEEALKVSPV SIPAEQKTGI
     PIGLSSSYSH SHKEKLKIST VHIPDDQKTE FPAATLSSYS QIEKPKISTV IGPNDQKTPS
     QTAFHSSYSQ TVKPNILFQQ QLPDRDQSKG ILKISAVPEL TDVNTGKPVS LSSSYFHREK
     SNIFSPQELP GSHVTEDVLK VSTIPGPAGQ KTVLPTALPS SFSHREKPDI FYQKDLPDRH
     LTEDALKISS ALGQADQITG LQTVPSGTYS HGENHKLVSE HVQRLIDNLN SSDSSVSSNN
     VLLNSQADDR VVINKPESAG FRDVGSEEIQ DAENSAKTLK EIRTLLMEAE NMALKRCNFP
     APLARFRDIS DISFIQSKKV VCFKEPSSTG VSNGDLLHRQ PFTEESPSSR CIQKDIGTQT
     NLKCRRGIEN WEFISSTTVR SPLQEAESKV SMALEETLRQ YQAAKSVMRS EPEGCSGTIG
     NKIIIPMMTV IKSDSSSDAS DGNGSCSWDS NLPESLESVS DVLLNFFPYV SPKTSITDSR
     EEEGVSESED GGGSSVDSLA AHVKNLLQCE SSLNHAKEIL RNAEEEESRV RAHAWNMKFN
     LAHDCGYSIS ELNEDDRRKV EEIKAELFGH GRTTDLSKGL QSPRGMGCKP EAVCSHIIIE
     SHEKGCFRTL TSEHPQLDRH PCAFRSAGPS EMTRGRQNPS SCRAKHVNLS ASLDQNNSHF
     KVWNSLQLKS HSPFQNFIPD EFKISKGLRM PFDEKMDPWL SELVEPAFVP PKEVDFHSSS
     QMPSPEPMKK FTTSITFSSH RHSKCISNSS VVKVGVTEGS QCTGASVGVF NSHFTEEQNP
     PRDLKQKTSS PSSFKMHSNS QDKEVTILAE GRRQSQKLPV DFERSFQEEK PLERSDFTGS
     HSEPSTRANC SNFKEIQISD NHTLISMGRP SSTLGVNRSS SRLGVKEKNV TITPDLPSCI
     FLEQRELFEQ SKAPRADDHV RKHHSPSPQH QDYVAPDLPS CIFLEQRELF EQCKAPYVDH
     QMRENHSPLP QGQDSIASDL PSPISLEQCQ SKAPGVDDQM NKHHFPLPQG QDCVVEKNNQ
     HKPKSHISNI NVEAKFNTVV SQSAPNHCTL AASASTPPSN RKALSCVHIT LCPKTSSKLD
     SGTLDERFHS LDAASKARMN SEFNFDLHTV SSRSLEPTSK LLTSKPVAQD QESLGFLGPK
     SSLDFQVVQP SLPDSNTITQ DLKTIPSQNS QIVTSRQIQV NISDFEGHSN PEGTPVFADR
     LPEKMKTPLS AFSEKLSSDA VTQITTESPE KTLFSSEIFI NAEDRGHEII EPGNQKLRKA
     PVKFASSSSV QQVTFSRGTD GQPLLLPYKP SGSTKMYYVP QLRQIPPSPD SKSDTTVESS
     HSGSNDAIAP DFPAQVLGTR DDDLSATVNI KHKEGIYSKR VVTKASLPVG EKPLQNENAD
     ASVQVLITGD ENLSDKKQQE IHSTRAVTEA AQAKEKESLQ KDTADSSAAA AAEHSAQVGD
     PEMKNLPDTK AITQKEEIHR KKTVPEEAWP NNKESLQINI EESECHSEFE NTTRSVFRSA
     KFYIHHPVHL PSDQDICHES LGKSVFMRHS WKDFFQHHPD KHREHMCLPL PYQNMDKTKT
     DYTRIKSLSI NVNLGNKEVM DTTKSQVRDY PKHNGQISDP QRDQKVTPEQ TTQHTVSLNE
     LWNKYRERQR QQRQPELGDR KELSLVDRLD RLAKILQNPI THSLQVSEST HDDSRGERSV
     KEWSGRQQQR NKLQKKKRFK SLEKSHKNTG ELKKSKVLSH HRAGRSNQIK IEQIKFDKYI
     LSKQPGFNYI SNTSSDCRPS EESELLTDTT TNILSGTTST VESDILTQTD REVALHERSS
     SVSTIDTARL IQAFGHERVC LSPRRIKLYS SITNQQRRYL EKRSKHSKKV LNTGHPLVTS
     EHTRRRHIQV ANHVISSDSI SSSASSFLSS NSTFCNKQNV HMLNKGIQAG NLEIVNGAKK
     HTRDVGITFP TPSSSEAKLE ENSDVTSWSE EKREEKMLFT GYPEDRKLKK NKKNSHEGVS
     WFVPVENVES RSKKENVPNT CGPGISWFEP ITKTRPWREP LREQNCQGQH LDGRGYLAGP
     GREAGRDLLR PFVRATLQES LQFHRPDFIS RSGERIKRLK LIVQERKLQS MLQTERDALF
     NIDRERQGHQ NRMCPLPKRV FLAIQKNKPI SKKEMIQRSK RIYEQLPEVQ KKREEEKRKS
     EYKSYRLRAQ LYKKRVTNQL LGRKVPWD
//