ALMS1_HUMAN
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 03-AUG-2022, entry version 167.
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 -!- 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}.
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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 RefSeq; NP_055935.4; NM_015120.4.
DR BioGRID; 113598; 148.
DR IntAct; Q8TCU4; 55.
DR MINT; Q8TCU4; -.
DR STRING; 9606.ENSP00000482968; -.
DR CarbonylDB; Q8TCU4; -.
DR GlyGen; Q8TCU4; 13 sites, 1 O-linked glycan (13 sites).
DR iPTMnet; Q8TCU4; -.
DR PhosphoSitePlus; Q8TCU4; -.
DR BioMuta; ALMS1; -.
DR DMDM; 296439448; -.
DR EPD; Q8TCU4; -.
DR jPOST; Q8TCU4; -.
DR MassIVE; Q8TCU4; -.
DR MaxQB; Q8TCU4; -.
DR PaxDb; Q8TCU4; -.
DR PeptideAtlas; Q8TCU4; -.
DR PRIDE; Q8TCU4; -.
DR ProteomicsDB; 74171; -. [Q8TCU4-1]
DR ProteomicsDB; 74172; -. [Q8TCU4-2]
DR ProteomicsDB; 74173; -. [Q8TCU4-3]
DR Antibodypedia; 8144; 130 antibodies from 26 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 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 neXtProt; NX_Q8TCU4; -.
DR OpenTargets; ENSG00000116127; -.
DR Orphanet; 64; Alstroem syndrome.
DR PharmGKB; PA24721; -.
DR VEuPathDB; HostDB:ENSG00000116127; -.
DR eggNOG; KOG4613; Eukaryota.
DR GeneTree; ENSGT00940000153123; -.
DR InParanoid; Q8TCU4; -.
DR OMA; PYSQRDQ; -.
DR OrthoDB; 9342at2759; -.
DR PhylomeDB; Q8TCU4; -.
DR TreeFam; TF335596; -.
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 BioGRID-ORCS; 7840; 13 hits in 1079 CRISPR screens.
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 200 other tissues.
DR ExpressionAtlas; Q8TCU4; baseline and differential.
DR GO; GO:0005813; C:centrosome; IDA:UniProtKB.
DR GO; GO:0005929; C:cilium; IEA:UniProtKB-KW.
DR GO; GO:0005829; C:cytosol; IBA:GO_Central.
DR GO; GO:0000922; C:spindle pole; IEA:UniProtKB-SubCell.
DR GO; GO:0008017; F:microtubule binding; IBA:GO_Central.
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; IPR028781; ALMS1.
DR InterPro; IPR029299; ALMS_motif.
DR InterPro; IPR040972; ALMS_repeat.
DR PANTHER; PTHR21553:SF22; PTHR21553:SF22; 14.
DR Pfam; PF15309; ALMS_motif; 1.
DR Pfam; PF18727; ALMS_repeat; 35.
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; Reference proteome; 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 3565..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..32
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 52..66
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 565..579
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 608..625
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 701..715
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 755..769
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 848..865
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 946..968
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 988..1007
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1041..1055
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1226..1241
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1792..1806
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2764..2785
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2786..2817
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2892..2908
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 3286..3306
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 3580..3594
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 3648..3669
FT /note="Basic and acidic 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
