AMMR1_HUMAN
ID AMMR1_HUMAN Reviewed; 333 AA.
AC Q9Y4X0; Q5JYV9; Q6P9D8; Q8WX22; Q9UIQ8;
DT 10-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 161.
DE RecName: Full=Nuclear protein AMMECR1 {ECO:0000305};
DE AltName: Full=AMME syndrome candidate gene 1 protein;
GN Name=AMMECR1;
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 AND 2), AND INVOLVEMENT IN ATS-MR.
RX PubMed=10049589; DOI=10.1006/geno.1998.5666;
RA Vitelli F., Piccini M., Caroli F., Franco B., Malandrini A., Pober B.,
RA Jonsson J., Sorrentino V., Renieri A.;
RT "Identification and characterization of a highly conserved protein absent
RT in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M),
RT and elliptocytosis (E) contiguous gene deletion syndrome (AMME).";
RL Genomics 55:335-340(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
RC TISSUE=Brain;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Placenta;
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 PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-16, AND IDENTIFICATION BY
RP 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 [6]
RP INVOLVEMENT IN MFHIEN.
RX PubMed=28089922; DOI=10.1016/j.gene.2017.01.001;
RA Basel-Vanagaite L., Pillar N., Isakov O., Smirin-Yosef P., Lagovsky I.,
RA Orenstein N., Salmon-Divon M., Tamary H., Zaft T., Bazak L.,
RA Meyerovitch J., Pelli T., Botchan S., Farberov L., Weissglas-Volkov D.,
RA Shomron N.;
RT "X-linked elliptocytosis with impaired growth is related to mutated
RT AMMECR1.";
RL Gene 606:47-52(2017).
RN [7]
RP VARIANT MFHIEN ASP-177, CHARACTERIZATION OF VARIANT MFHIEN ASP-177,
RP INVOLVEMENT IN MFHIEN, AND SUBCELLULAR LOCATION.
RX PubMed=27811305; DOI=10.1136/jmedgenet-2016-104100;
RA Andreoletti G., Seaby E.G., Dewing J.M., O'Kelly I., Lachlan K.,
RA Gilbert R.D., Ennis S.;
RT "AMMECR1: a single point mutation causes developmental delay, midface
RT hypoplasia and elliptocytosis.";
RL J. Med. Genet. 54:269-277(2017).
CC -!- INTERACTION:
CC Q9Y4X0; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-8583355, EBI-10173507;
CC Q9Y4X0; Q13137: CALCOCO2; NbExp=4; IntAct=EBI-8583355, EBI-739580;
CC Q9Y4X0; O95967: EFEMP2; NbExp=3; IntAct=EBI-8583355, EBI-743414;
CC Q9Y4X0; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-8583355, EBI-10171774;
CC Q9Y4X0; O75581: LRP6; NbExp=5; IntAct=EBI-8583355, EBI-910915;
CC Q9Y4X0; Q93062: RBPMS; NbExp=4; IntAct=EBI-8583355, EBI-740322;
CC Q9Y4X0; P14373: TRIM27; NbExp=3; IntAct=EBI-8583355, EBI-719493;
CC Q9Y4X0; O70239: Axin1; Xeno; NbExp=3; IntAct=EBI-8583355, EBI-6857773;
CC Q9Y4X0; Q6NRT0: csnk1g1; Xeno; NbExp=2; IntAct=EBI-8583355, EBI-8583566;
CC Q9Y4X0-3; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-12823597, EBI-10173507;
CC Q9Y4X0-3; Q13137: CALCOCO2; NbExp=3; IntAct=EBI-12823597, EBI-739580;
CC Q9Y4X0-3; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-12823597, EBI-3867333;
CC Q9Y4X0-3; O95967: EFEMP2; NbExp=3; IntAct=EBI-12823597, EBI-743414;
CC Q9Y4X0-3; P49639: HOXA1; NbExp=3; IntAct=EBI-12823597, EBI-740785;
CC Q9Y4X0-3; O43593: HR; NbExp=3; IntAct=EBI-12823597, EBI-2880706;
CC Q9Y4X0-3; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-12823597, EBI-10171774;
CC Q9Y4X0-3; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-12823597, EBI-16439278;
CC Q9Y4X0-3; D3DTS7: PMP22; NbExp=3; IntAct=EBI-12823597, EBI-25882629;
CC Q9Y4X0-3; Q8WW24: TEKT4; NbExp=3; IntAct=EBI-12823597, EBI-750487;
CC Q9Y4X0-3; Q63HR2: TNS2; NbExp=3; IntAct=EBI-12823597, EBI-949753;
CC Q9Y4X0-3; Q15973: ZNF124; NbExp=3; IntAct=EBI-12823597, EBI-2555767;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27811305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q9Y4X0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y4X0-2; Sequence=VSP_008516;
CC Name=3;
CC IsoId=Q9Y4X0-3; Sequence=VSP_017058;
CC Name=4;
CC IsoId=Q9Y4X0-4; Sequence=VSP_044229;
CC -!- DISEASE: Midface hypoplasia, hearing impairment, elliptocytosis, and
CC nephrocalcinosis (MFHIEN) [MIM:300990]: An X-linked recessive disorder
CC with onset in early childhood, characterized by midface hypoplasia,
CC hearing impairment, elliptocytosis, and nephrocalcinosis. Variable
CC clinical features include anemia, and mild early motor or speech delay.
CC {ECO:0000269|PubMed:27811305, ECO:0000269|PubMed:28089922}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: AMME complex (ATS-MR) [MIM:300194]: An X-linked contiguous
CC gene deletion syndrome characterized by glomerulonephritis,
CC sensorineural hearing loss, intellectual disability, midface hypoplasia
CC and elliptocytosis. {ECO:0000269|PubMed:10049589}. Note=The gene
CC represented in this entry may be involved in disease pathogenesis.
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DR EMBL; AJ007014; CAB45546.1; -; mRNA.
DR EMBL; AK091430; BAG52359.1; -; mRNA.
DR EMBL; AJ012221; CAB58122.1; -; Genomic_DNA.
DR EMBL; AJ012222; CAB58122.1; JOINED; Genomic_DNA.
DR EMBL; AJ012223; CAB58122.1; JOINED; Genomic_DNA.
DR EMBL; AJ012224; CAB58122.1; JOINED; Genomic_DNA.
DR EMBL; AJ012225; CAB58122.1; JOINED; Genomic_DNA.
DR EMBL; AJ012226; CAB58122.1; JOINED; Genomic_DNA.
DR EMBL; AJ012221; CAB58123.1; -; Genomic_DNA.
DR EMBL; AJ012227; CAB58123.1; JOINED; Genomic_DNA.
DR EMBL; AL079334; CAI42537.1; -; Genomic_DNA.
DR EMBL; AL031319; CAI42537.1; JOINED; Genomic_DNA.
DR EMBL; AL359079; CAI42537.1; JOINED; Genomic_DNA.
DR EMBL; AL079334; CAI42538.1; -; Genomic_DNA.
DR EMBL; AL031319; CAI42538.1; JOINED; Genomic_DNA.
DR EMBL; AL359079; CAI42538.1; JOINED; Genomic_DNA.
DR EMBL; AL359079; CAI41539.1; -; Genomic_DNA.
DR EMBL; AL031319; CAI41539.1; JOINED; Genomic_DNA.
DR EMBL; AL079334; CAI41539.1; JOINED; Genomic_DNA.
DR EMBL; AL359079; CAI41540.1; -; Genomic_DNA.
DR EMBL; AL031319; CAI41540.1; JOINED; Genomic_DNA.
DR EMBL; AL079334; CAI41540.1; JOINED; Genomic_DNA.
DR EMBL; AL031319; CAI42703.1; -; Genomic_DNA.
DR EMBL; AL079334; CAI42703.1; JOINED; Genomic_DNA.
DR EMBL; AL359079; CAI42703.1; JOINED; Genomic_DNA.
DR EMBL; AL031319; CAI42704.1; -; Genomic_DNA.
DR EMBL; AL079334; CAI42704.1; JOINED; Genomic_DNA.
DR EMBL; AL359079; CAI42704.1; JOINED; Genomic_DNA.
DR EMBL; BC060813; AAH60813.1; -; mRNA.
DR CCDS; CCDS14551.1; -. [Q9Y4X0-1]
DR CCDS; CCDS35368.1; -. [Q9Y4X0-3]
DR CCDS; CCDS55476.1; -. [Q9Y4X0-4]
DR RefSeq; NP_001020751.1; NM_001025580.1. [Q9Y4X0-3]
DR RefSeq; NP_001165160.1; NM_001171689.1. [Q9Y4X0-4]
DR RefSeq; NP_056180.1; NM_015365.2. [Q9Y4X0-1]
DR AlphaFoldDB; Q9Y4X0; -.
DR SMR; Q9Y4X0; -.
DR BioGRID; 115274; 29.
DR IntAct; Q9Y4X0; 29.
DR MINT; Q9Y4X0; -.
DR STRING; 9606.ENSP00000262844; -.
DR iPTMnet; Q9Y4X0; -.
DR PhosphoSitePlus; Q9Y4X0; -.
DR BioMuta; AMMECR1; -.
DR DMDM; 48475039; -.
DR EPD; Q9Y4X0; -.
DR jPOST; Q9Y4X0; -.
DR MassIVE; Q9Y4X0; -.
DR MaxQB; Q9Y4X0; -.
DR PaxDb; Q9Y4X0; -.
DR PeptideAtlas; Q9Y4X0; -.
DR PRIDE; Q9Y4X0; -.
DR ProteomicsDB; 63517; -.
DR ProteomicsDB; 86255; -. [Q9Y4X0-1]
DR ProteomicsDB; 86256; -. [Q9Y4X0-2]
DR ProteomicsDB; 86257; -. [Q9Y4X0-3]
DR Antibodypedia; 29496; 131 antibodies from 23 providers.
DR DNASU; 9949; -.
DR Ensembl; ENST00000262844.10; ENSP00000262844.5; ENSG00000101935.12. [Q9Y4X0-1]
DR Ensembl; ENST00000372057.1; ENSP00000361127.1; ENSG00000101935.12. [Q9Y4X0-4]
DR Ensembl; ENST00000372059.6; ENSP00000361129.2; ENSG00000101935.12. [Q9Y4X0-3]
DR GeneID; 9949; -.
DR KEGG; hsa:9949; -.
DR MANE-Select; ENST00000262844.10; ENSP00000262844.5; NM_015365.3; NP_056180.1.
DR UCSC; uc004eoo.4; human. [Q9Y4X0-1]
DR CTD; 9949; -.
DR DisGeNET; 9949; -.
DR GeneCards; AMMECR1; -.
DR HGNC; HGNC:467; AMMECR1.
DR HPA; ENSG00000101935; Low tissue specificity.
DR MalaCards; AMMECR1; -.
DR MIM; 300194; phenotype.
DR MIM; 300195; gene.
DR MIM; 300990; phenotype.
DR neXtProt; NX_Q9Y4X0; -.
DR OpenTargets; ENSG00000101935; -.
DR Orphanet; 86818; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome.
DR PharmGKB; PA24772; -.
DR VEuPathDB; HostDB:ENSG00000101935; -.
DR eggNOG; KOG3274; Eukaryota.
DR GeneTree; ENSGT00390000010397; -.
DR HOGENOM; CLU_052828_0_0_1; -.
DR InParanoid; Q9Y4X0; -.
DR OMA; MAYAEYI; -.
DR PhylomeDB; Q9Y4X0; -.
DR TreeFam; TF314680; -.
DR PathwayCommons; Q9Y4X0; -.
DR SignaLink; Q9Y4X0; -.
DR BioGRID-ORCS; 9949; 9 hits in 701 CRISPR screens.
DR ChiTaRS; AMMECR1; human.
DR GenomeRNAi; 9949; -.
DR Pharos; Q9Y4X0; Tbio.
DR PRO; PR:Q9Y4X0; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q9Y4X0; protein.
DR Bgee; ENSG00000101935; Expressed in esophagus squamous epithelium and 177 other tissues.
DR ExpressionAtlas; Q9Y4X0; baseline and differential.
DR Genevisible; Q9Y4X0; HS.
DR GO; GO:0005739; C:mitochondrion; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR Gene3D; 3.30.700.20; -; 1.
DR InterPro; IPR023473; AMMECR1.
DR InterPro; IPR036071; AMMECR1_dom_sf.
DR InterPro; IPR002733; AMMECR1_domain.
DR InterPro; IPR027485; AMMECR1_N.
DR PANTHER; PTHR13016; PTHR13016; 1.
DR Pfam; PF01871; AMMECR1; 1.
DR SUPFAM; SSF143447; SSF143447; 1.
DR TIGRFAMs; TIGR00296; TIGR00296; 1.
DR PROSITE; PS51112; AMMECR1; 1.
PE 1: Evidence at protein level;
KW Alport syndrome; Alternative splicing; Deafness; Disease variant;
KW Elliptocytosis; Hereditary hemolytic anemia; Intellectual disability;
KW Nucleus; Phosphoprotein; Reference proteome.
FT CHAIN 1..333
FT /note="Nuclear protein AMMECR1"
FT /id="PRO_0000142366"
FT DOMAIN 119..313
FT /note="AMMECR1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00467"
FT REGION 1..39
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 101..120
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 12..37
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 16
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1..123
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044229"
FT VAR_SEQ 158..333
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10049589"
FT /id="VSP_008516"
FT VAR_SEQ 159..195
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_017058"
FT VARIANT 177
FT /note="G -> D (in MFHIEN; creates a novel nonuniform
FT expression pattern in the nucleus; dbSNP:rs1057519337)"
FT /evidence="ECO:0000269|PubMed:27811305"
FT /id="VAR_078027"
SQ SEQUENCE 333 AA; 35463 MW; CE3942EFD6E55A8D CRC64;
MAAGCCGVKK QKLSSSPPSG SGGGGGASSS SHCSGESQCR AGELGLGGAG TRLNGLGGLT
GGGSGSGCTL SPPQGCGGGG GGIALSPPPS CGVGTLLSTP AAATSSSPSS SSAASSSSPG
SRKMVVSAEM CCFCFDVLYC HLYGYQQPRT PRFTNEPYPL FVTWKIGRDK RLRGCIGTFS
AMNLHSGLRE YTLTSALKDS RFPPMTRDEL PRLFCSVSLL TNFEDVCDYL DWEVGVHGIR
IEFINEKGSK RTATYLPEVA KEQGWDHIQT IDSLLRKGGY KAPITNEFRK TIKLTRYRSE
KMTLSYAEYL AHRQHHHFQN GIGHPLPPYN HYS
