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POF1B_HUMAN
ID   POF1B_HUMAN             Reviewed;         589 AA.
AC   Q8WVV4; A8K2U5; Q5H9E9; Q5H9F0; Q8NG12; Q9H5Y2; Q9H738; Q9H744;
DT   17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT   03-MAY-2011, sequence version 3.
DT   03-AUG-2022, entry version 145.
DE   RecName: Full=Protein POF1B;
DE   AltName: Full=Premature ovarian failure protein 1B;
GN   Name=POF1B;
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 2), AND VARIANTS SER-239; GLN-329;
RP   LEU-349; LYS-434 AND TYR-444.
RX   PubMed=15459172; DOI=10.1093/humrep/deh502;
RA   Bione S., Rizzolio F., Sala C., Ricotti R., Goegan M., Manzini M.C.,
RA   Battaglia R., Marozzi A., Vegetti W., Dalpra L., Crosignani P.G.,
RA   Ginelli E., Nappi R., Bernabini S., Bruni V., Torricelli F., Zuffardi O.,
RA   Toniolo D.;
RT   "Mutation analysis of two candidate genes for premature ovarian failure,
RT   DACH2 and POF1B.";
RL   Hum. Reprod. 19:2759-2766(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), AND VARIANT
RP   LEU-349.
RC   TISSUE=Colon, Ileal mucosa, Placenta, and Tongue;
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 GENOMIC DNA], AND VARIANT LEU-349.
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   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT LEU-349.
RC   TISSUE=Muscle;
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   FUNCTION, INTERACTION WITH ACTIN, VARIANT POF2B GLN-329, AND
RP   CHARACTERIZATION OF VARIANT POF2B GLN-329.
RX   PubMed=16773570; DOI=10.1086/505406;
RA   Lacombe A., Lee H., Zahed L., Choucair M., Muller J.-M., Nelson S.F.,
RA   Salameh W., Vilain E.;
RT   "Disruption of POF1B binding to nonmuscle actin filaments is associated
RT   with premature ovarian failure.";
RL   Am. J. Hum. Genet. 79:113-119(2006).
RN   [7]
RP   FUNCTION, SUBCELLULAR LOCATION, AND CHARACTERIZATION OF VARIANT POF2B
RP   GLN-329.
RC   TISSUE=Jejunum;
RX   PubMed=21940798; DOI=10.1242/jcs.088237;
RA   Padovano V., Lucibello I., Alari V., Della Mina P., Crespi A., Ferrari I.,
RA   Recagni M., Lattuada D., Righi M., Toniolo D., Villa A., Pietrini G.;
RT   "The POF1B candidate gene for premature ovarian failure regulates
RT   epithelial polarity.";
RL   J. Cell Sci. 124:3356-3368(2011).
RN   [8]
RP   IDENTIFICATION BY 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: Plays a key role in the organization of epithelial monolayers
CC       by regulating the actin cytoskeleton. May be involved in ovary
CC       development. {ECO:0000269|PubMed:16773570,
CC       ECO:0000269|PubMed:21940798}.
CC   -!- SUBUNIT: Interacts with nonmuscle actin. {ECO:0000269|PubMed:16773570}.
CC   -!- INTERACTION:
CC       Q8WVV4-1; P40617: ARL4A; NbExp=3; IntAct=EBI-11986735, EBI-2875746;
CC       Q8WVV4-1; P41182: BCL6; NbExp=3; IntAct=EBI-11986735, EBI-765407;
CC       Q8WVV4-1; P27658: COL8A1; NbExp=3; IntAct=EBI-11986735, EBI-747133;
CC       Q8WVV4-1; Q86YD7: FAM90A1; NbExp=3; IntAct=EBI-11986735, EBI-6658203;
CC       Q8WVV4-1; O43559: FRS3; NbExp=3; IntAct=EBI-11986735, EBI-725515;
CC       Q8WVV4-1; P55040: GEM; NbExp=3; IntAct=EBI-11986735, EBI-744104;
CC       Q8WVV4-1; Q86VF2-5: IGFN1; NbExp=3; IntAct=EBI-11986735, EBI-11955401;
CC       Q8WVV4-1; Q7L273: KCTD9; NbExp=3; IntAct=EBI-11986735, EBI-4397613;
CC       Q8WVV4-1; Q2WGJ6: KLHL38; NbExp=3; IntAct=EBI-11986735, EBI-6426443;
CC       Q8WVV4-1; Q8TCE9: LGALS14; NbExp=3; IntAct=EBI-11986735, EBI-10274069;
CC       Q8WVV4-1; O60437: PPL; NbExp=3; IntAct=EBI-11986735, EBI-368321;
CC       Q8WVV4-1; O75679: RFPL3; NbExp=3; IntAct=EBI-11986735, EBI-10188956;
CC       Q8WVV4-1; Q9BSW7: SYT17; NbExp=3; IntAct=EBI-11986735, EBI-745392;
CC   -!- SUBCELLULAR LOCATION: Cell junction, tight junction
CC       {ECO:0000269|PubMed:21940798}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=2;
CC         IsoId=Q8WVV4-2; Sequence=Displayed;
CC       Name=1;
CC         IsoId=Q8WVV4-1; Sequence=VSP_021151;
CC       Name=3;
CC         IsoId=Q8WVV4-3; Sequence=VSP_021149, VSP_021150;
CC   -!- DISEASE: Premature ovarian failure 2B (POF2B) [MIM:300604]: An ovarian
CC       disorder defined as the cessation of ovarian function under the age of
CC       40 years. It is characterized by oligomenorrhea or amenorrhea, in the
CC       presence of elevated levels of serum gonadotropins and low estradiol.
CC       {ECO:0000269|PubMed:16773570, ECO:0000269|PubMed:21940798}. Note=The
CC       disease is caused by variants affecting the gene represented in this
CC       entry.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=BAB15061.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC       Sequence=BAB15485.1; Type=Frameshift; Evidence={ECO:0000305};
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DR   EMBL; AF309774; AAM93270.1; -; mRNA.
DR   EMBL; AK025039; BAB15055.1; -; mRNA.
DR   EMBL; AK025080; BAB15061.1; ALT_INIT; mRNA.
DR   EMBL; AK026445; BAB15485.1; ALT_SEQ; mRNA.
DR   EMBL; AK290360; BAF83049.1; -; mRNA.
DR   EMBL; AK314295; BAG36950.1; -; mRNA.
DR   EMBL; AL117325; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; Z82216; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471104; EAW98561.1; -; Genomic_DNA.
DR   EMBL; BC017500; AAH17500.1; -; mRNA.
DR   CCDS; CCDS14452.1; -. [Q8WVV4-2]
DR   CCDS; CCDS78497.1; -. [Q8WVV4-1]
DR   RefSeq; NP_001294869.1; NM_001307940.1. [Q8WVV4-1]
DR   RefSeq; NP_079197.3; NM_024921.3. [Q8WVV4-2]
DR   PDB; 3BH9; X-ray; 1.70 A; C=53-62.
DR   PDBsum; 3BH9; -.
DR   AlphaFoldDB; Q8WVV4; -.
DR   SMR; Q8WVV4; -.
DR   BioGRID; 123048; 229.
DR   IntAct; Q8WVV4; 64.
DR   MINT; Q8WVV4; -.
DR   STRING; 9606.ENSP00000262753; -.
DR   GlyGen; Q8WVV4; 1 site, 1 O-linked glycan (1 site).
DR   iPTMnet; Q8WVV4; -.
DR   PhosphoSitePlus; Q8WVV4; -.
DR   BioMuta; POF1B; -.
DR   DMDM; 332278224; -.
DR   EPD; Q8WVV4; -.
DR   jPOST; Q8WVV4; -.
DR   MassIVE; Q8WVV4; -.
DR   MaxQB; Q8WVV4; -.
DR   PaxDb; Q8WVV4; -.
DR   PeptideAtlas; Q8WVV4; -.
DR   PRIDE; Q8WVV4; -.
DR   ProteomicsDB; 74820; -. [Q8WVV4-2]
DR   ProteomicsDB; 74821; -. [Q8WVV4-1]
DR   ProteomicsDB; 74822; -. [Q8WVV4-3]
DR   Antibodypedia; 453; 103 antibodies from 21 providers.
DR   DNASU; 79983; -.
DR   Ensembl; ENST00000262753.9; ENSP00000262753.4; ENSG00000124429.18. [Q8WVV4-2]
DR   Ensembl; ENST00000373145.3; ENSP00000362238.3; ENSG00000124429.18. [Q8WVV4-1]
DR   GeneID; 79983; -.
DR   KEGG; hsa:79983; -.
DR   MANE-Select; ENST00000262753.9; ENSP00000262753.4; NM_024921.4; NP_079197.3.
DR   UCSC; uc004eer.3; human. [Q8WVV4-2]
DR   CTD; 79983; -.
DR   DisGeNET; 79983; -.
DR   GeneCards; POF1B; -.
DR   HGNC; HGNC:13711; POF1B.
DR   HPA; ENSG00000124429; Tissue enhanced (intestine, skin).
DR   MalaCards; POF1B; -.
DR   MIM; 300603; gene.
DR   MIM; 300604; phenotype.
DR   neXtProt; NX_Q8WVV4; -.
DR   OpenTargets; ENSG00000124429; -.
DR   Orphanet; 619; NON RARE IN EUROPE: Primary ovarian failure.
DR   PharmGKB; PA134937695; -.
DR   VEuPathDB; HostDB:ENSG00000124429; -.
DR   eggNOG; ENOG502QRUE; Eukaryota.
DR   GeneTree; ENSGT00390000000141; -.
DR   HOGENOM; CLU_031293_0_0_1; -.
DR   InParanoid; Q8WVV4; -.
DR   OMA; LEYCKHN; -.
DR   OrthoDB; 724143at2759; -.
DR   TreeFam; TF331412; -.
DR   PathwayCommons; Q8WVV4; -.
DR   SignaLink; Q8WVV4; -.
DR   BioGRID-ORCS; 79983; 12 hits in 688 CRISPR screens.
DR   ChiTaRS; POF1B; human.
DR   EvolutionaryTrace; Q8WVV4; -.
DR   GeneWiki; POF1B; -.
DR   GenomeRNAi; 79983; -.
DR   Pharos; Q8WVV4; Tbio.
DR   PRO; PR:Q8WVV4; -.
DR   Proteomes; UP000005640; Chromosome X.
DR   RNAct; Q8WVV4; protein.
DR   Bgee; ENSG00000124429; Expressed in upper arm skin and 124 other tissues.
DR   Genevisible; Q8WVV4; HS.
DR   GO; GO:0005884; C:actin filament; IDA:UniProtKB.
DR   GO; GO:0005912; C:adherens junction; IDA:UniProtKB.
DR   GO; GO:0005923; C:bicellular tight junction; IDA:UniProtKB.
DR   GO; GO:0030057; C:desmosome; IEA:Ensembl.
DR   GO; GO:0051015; F:actin filament binding; IMP:UniProtKB.
DR   GO; GO:0030036; P:actin cytoskeleton organization; IMP:UniProtKB.
DR   GO; GO:0007015; P:actin filament organization; IMP:UniProtKB.
DR   GO; GO:0070830; P:bicellular tight junction assembly; IMP:UniProtKB.
DR   GO; GO:0003382; P:epithelial cell morphogenesis; IMP:UniProtKB.
DR   InterPro; IPR026186; POF1B.
DR   PANTHER; PTHR22546; PTHR22546; 1.
PE   1: Evidence at protein level;
KW   3D-structure; Actin-binding; Alternative splicing; Cell junction;
KW   Coiled coil; Disease variant; Premature ovarian failure;
KW   Reference proteome; Tight junction.
FT   CHAIN           1..589
FT                   /note="Protein POF1B"
FT                   /id="PRO_0000253911"
FT   COILED          334..443
FT                   /evidence="ECO:0000255"
FT   VAR_SEQ         284..306
FT                   /note="GSKQDFESTDESEDIESLIPKGL -> RKQSLSSTYTIRHGIQTKRTGIL
FT                   (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_021149"
FT   VAR_SEQ         307..589
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_021150"
FT   VAR_SEQ         589
FT                   /note="P -> VSSLGHF (in isoform 1)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_021151"
FT   VARIANT         207
FT                   /note="P -> S (in dbSNP:rs363766)"
FT                   /id="VAR_028753"
FT   VARIANT         239
FT                   /note="C -> S (in dbSNP:rs147563033)"
FT                   /evidence="ECO:0000269|PubMed:15459172"
FT                   /id="VAR_028754"
FT   VARIANT         296
FT                   /note="E -> A (in dbSNP:rs363751)"
FT                   /id="VAR_028755"
FT   VARIANT         323
FT                   /note="M -> V (in dbSNP:rs363775)"
FT                   /id="VAR_028756"
FT   VARIANT         329
FT                   /note="R -> Q (in POF2B; disrupts binding to nonmuscle
FT                   actin filaments; abolishes tight junction localization;
FT                   altered ciliogenesis and cystogenesis; dbSNP:rs75398746)"
FT                   /evidence="ECO:0000269|PubMed:15459172,
FT                   ECO:0000269|PubMed:16773570, ECO:0000269|PubMed:21940798"
FT                   /id="VAR_028757"
FT   VARIANT         349
FT                   /note="M -> L (in dbSNP:rs363774)"
FT                   /evidence="ECO:0000269|PubMed:14702039,
FT                   ECO:0000269|PubMed:15459172, ECO:0000269|PubMed:15489334,
FT                   ECO:0000269|Ref.4"
FT                   /id="VAR_028758"
FT   VARIANT         434
FT                   /note="Q -> K (in dbSNP:rs139385491)"
FT                   /evidence="ECO:0000269|PubMed:15459172"
FT                   /id="VAR_028759"
FT   VARIANT         444
FT                   /note="C -> Y (in dbSNP:rs768162591)"
FT                   /evidence="ECO:0000269|PubMed:15459172"
FT                   /id="VAR_028760"
FT   CONFLICT        180
FT                   /note="Q -> E (in Ref. 1; AAM93270)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        503
FT                   /note="L -> F (in Ref. 2; BAB15485)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   589 AA;  68065 MW;  6698CBE405364159 CRC64;
     MSSSYWSETS SSSCGTQQLP EVLQCQPQHY HCYHQSSQAQ QPPEKNVVYE RVRTYSGPMN
     KVVQALDPFN SREVLSPLKT TSSYQNLVWS DHSQELHSPT LKISTCAPST LHITQNTEQE
     LHSPTVKLTT YPQTTIRKYV VQNPEQEPLS QFLRGSHFFP GNNVIYEKTI RKVEKLNTDQ
     GCHPQAQCHH HIIQQPQVIH SAHWQQPDSS QQIQAITGNN PISTHIGNEL CHSGSSQICE
     QVIIQDDGPE KLDPRYFGEL LADLSRKNTD LYHCLLEHLQ RIGGSKQDFE STDESEDIES
     LIPKGLSEFT KQQIRYILQM RGMSDKSLRL VLSTFSNIRE ELGHLQNDMT SLENDKMRLE
     KDLSFKDTQL KEYEELLASV RANNHQQQQG LQDSSSKCQA LEENNLSLRH TLSDMEYRLK
     ELEYCKRNLE QENQNLRMQV SETCTGPMLQ AKMDEIGNHY TEMVKNLRME KDREICRLRS
     QLNQYHKDVS KREGSCSDFQ FKLHELTSLL EEKDSLIKRQ SEELSKLRQE IYSSHNQPST
     GGRTTITTKK YRTQYPILGL LYDDYEYIPP GSETQTIVIE KTEDKYTCP
 
 
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