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ARH40_HUMAN
ID   ARH40_HUMAN             Reviewed;        1519 AA.
AC   Q8TER5; A5PL07; Q9BWP5; Q9H7L6; Q9NTF9; Q9NW24;
DT   15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT   18-MAY-2010, sequence version 3.
DT   03-AUG-2022, entry version 142.
DE   RecName: Full=Rho guanine nucleotide exchange factor 40;
DE   AltName: Full=Protein SOLO;
GN   Name=ARHGEF40; Synonyms=SOLO;
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 [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE
RP   [LARGE SCALE MRNA] OF 1172-1519 (ISOFORM 4), AND VARIANTS LEU-956 AND
RP   SER-1189.
RC   TISSUE=Spleen, and Teratocarcinoma;
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   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=12508121; DOI=10.1038/nature01348;
RA   Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA   Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA   Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA   Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA   Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA   Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA   Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA   Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA   Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA   Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA   Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA   Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA   Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA   Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA   Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA   Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA   Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA   Waterston R., Hood L., Weissenbach J.;
RT   "The DNA sequence and analysis of human chromosome 14.";
RL   Nature 421:601-607(2003).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS SER-1189
RP   AND PRO-1418.
RC   TISSUE=Kidney;
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   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 841-1519 (ISOFORM 3), AND
RP   VARIANTS LEU-956 AND SER-1189.
RC   TISSUE=Testis;
RX   PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA   Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA   Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA   Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA   Wiemann S., Schupp I.;
RT   "The full-ORF clone resource of the German cDNA consortium.";
RL   BMC Genomics 8:399-399(2007).
RN   [5]
RP   SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX   PubMed=16143467; DOI=10.1016/j.gene.2005.06.025;
RA   Tse S.-W., Broderick J.A., Wei M.-L., Luo M.-H., Smith D., McCaffery P.,
RA   Stamm S., Andreadis A.;
RT   "Identification, expression analysis, genomic organization and cellular
RT   location of a novel protein with a RhoGEF domain.";
RL   Gene 359:63-72(2005).
RN   [6]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Cervix carcinoma;
RX   PubMed=16964243; DOI=10.1038/nbt1240;
RA   Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.;
RT   "A probability-based approach for high-throughput protein phosphorylation
RT   analysis and site localization.";
RL   Nat. Biotechnol. 24:1285-1292(2006).
RN   [7]
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   [8]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=19413330; DOI=10.1021/ac9004309;
RA   Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT   "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT   refined SCX-based approach.";
RL   Anal. Chem. 81:4493-4501(2009).
RN   [9]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-262, AND IDENTIFICATION BY
RP   MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=19369195; DOI=10.1074/mcp.m800588-mcp200;
RA   Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G.,
RA   Mann M., Daub H.;
RT   "Large-scale proteomics analysis of the human kinome.";
RL   Mol. Cell. Proteomics 8:1751-1764(2009).
RN   [10]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1082, AND IDENTIFICATION BY
RP   MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA   Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA   Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT   "System-wide temporal characterization of the proteome and phosphoproteome
RT   of human embryonic stem cell differentiation.";
RL   Sci. Signal. 4:RS3-RS3(2011).
RN   [11]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-931; SER-961 AND THR-1492,
RP   VARIANT [LARGE SCALE ANALYSIS] LEU-956, AND IDENTIFICATION BY MASS
RP   SPECTROMETRY [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   [12]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-262; THR-371; SER-419;
RP   SER-1433; SER-1438 AND SER-1474, AND IDENTIFICATION BY MASS SPECTROMETRY
RP   [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: May act as a guanine nucleotide exchange factor (GEF).
CC       {ECO:0000250}.
CC   -!- INTERACTION:
CC       Q8TER5-2; Q8NA61: CBY2; NbExp=3; IntAct=EBI-10275150, EBI-741724;
CC       Q8TER5-2; P81274: GPSM2; NbExp=3; IntAct=EBI-10275150, EBI-618655;
CC   -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16143467}.
CC       Note=Concentrated in the perinuclear region.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=4;
CC       Name=1;
CC         IsoId=Q8TER5-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8TER5-2; Sequence=VSP_030381;
CC       Name=3;
CC         IsoId=Q8TER5-3; Sequence=VSP_030382;
CC       Name=4;
CC         IsoId=Q8TER5-4; Sequence=VSP_030383;
CC   -!- TISSUE SPECIFICITY: Expressed at higher level in the central nervous
CC       system and skeletal muscle and greater abundance in fetal than adult
CC       brain (at protein level). {ECO:0000269|PubMed:16143467}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=BAA91563.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC       Sequence=BAB15753.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC       Sequence=BAB84883.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR   EMBL; AK001219; BAA91563.1; ALT_INIT; mRNA.
DR   EMBL; AK024463; BAB15753.1; ALT_INIT; mRNA.
DR   EMBL; AK074057; BAB84883.1; ALT_INIT; mRNA.
DR   EMBL; AL161668; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC000084; AAH00084.4; -; mRNA.
DR   EMBL; BC142692; AAI42693.1; -; mRNA.
DR   EMBL; AL137291; CAB70682.1; -; mRNA.
DR   CCDS; CCDS32041.1; -. [Q8TER5-1]
DR   PIR; T46359; T46359.
DR   RefSeq; NP_001265458.1; NM_001278529.1. [Q8TER5-2]
DR   RefSeq; NP_060541.3; NM_018071.4. [Q8TER5-1]
DR   RefSeq; XP_005267901.1; XM_005267844.2. [Q8TER5-4]
DR   AlphaFoldDB; Q8TER5; -.
DR   SMR; Q8TER5; -.
DR   BioGRID; 120826; 55.
DR   IntAct; Q8TER5; 30.
DR   STRING; 9606.ENSP00000298694; -.
DR   iPTMnet; Q8TER5; -.
DR   PhosphoSitePlus; Q8TER5; -.
DR   BioMuta; ARHGEF40; -.
DR   DMDM; 296452953; -.
DR   EPD; Q8TER5; -.
DR   jPOST; Q8TER5; -.
DR   MassIVE; Q8TER5; -.
DR   MaxQB; Q8TER5; -.
DR   PaxDb; Q8TER5; -.
DR   PeptideAtlas; Q8TER5; -.
DR   PRIDE; Q8TER5; -.
DR   ProteomicsDB; 74485; -. [Q8TER5-1]
DR   ProteomicsDB; 74486; -. [Q8TER5-2]
DR   ProteomicsDB; 74487; -. [Q8TER5-3]
DR   ProteomicsDB; 74488; -. [Q8TER5-4]
DR   Antibodypedia; 22091; 32 antibodies from 12 providers.
DR   DNASU; 55701; -.
DR   Ensembl; ENST00000298694.9; ENSP00000298694.4; ENSG00000165801.10. [Q8TER5-1]
DR   GeneID; 55701; -.
DR   KEGG; hsa:55701; -.
DR   MANE-Select; ENST00000298694.9; ENSP00000298694.4; NM_018071.5; NP_060541.3.
DR   UCSC; uc001vzp.5; human. [Q8TER5-1]
DR   CTD; 55701; -.
DR   DisGeNET; 55701; -.
DR   GeneCards; ARHGEF40; -.
DR   HGNC; HGNC:25516; ARHGEF40.
DR   HPA; ENSG00000165801; Low tissue specificity.
DR   MIM; 610018; gene.
DR   neXtProt; NX_Q8TER5; -.
DR   OpenTargets; ENSG00000165801; -.
DR   VEuPathDB; HostDB:ENSG00000165801; -.
DR   eggNOG; KOG0689; Eukaryota.
DR   GeneTree; ENSGT00940000161599; -.
DR   HOGENOM; CLU_001356_2_1_1; -.
DR   InParanoid; Q8TER5; -.
DR   OMA; CMAGPTG; -.
DR   OrthoDB; 578732at2759; -.
DR   PhylomeDB; Q8TER5; -.
DR   TreeFam; TF334329; -.
DR   PathwayCommons; Q8TER5; -.
DR   Reactome; R-HSA-193648; NRAGE signals death through JNK.
DR   Reactome; R-HSA-416482; G alpha (12/13) signalling events.
DR   Reactome; R-HSA-8980692; RHOA GTPase cycle.
DR   Reactome; R-HSA-9013106; RHOC GTPase cycle.
DR   SignaLink; Q8TER5; -.
DR   BioGRID-ORCS; 55701; 7 hits in 1068 CRISPR screens.
DR   ChiTaRS; ARHGEF40; human.
DR   GenomeRNAi; 55701; -.
DR   Pharos; Q8TER5; Tdark.
DR   PRO; PR:Q8TER5; -.
DR   Proteomes; UP000005640; Chromosome 14.
DR   RNAct; Q8TER5; protein.
DR   Bgee; ENSG00000165801; Expressed in buccal mucosa cell and 194 other tissues.
DR   ExpressionAtlas; Q8TER5; baseline and differential.
DR   Genevisible; Q8TER5; HS.
DR   GO; GO:0005829; C:cytosol; IDA:HPA.
DR   GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR   GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; TAS:Reactome.
DR   GO; GO:0051056; P:regulation of small GTPase mediated signal transduction; TAS:Reactome.
DR   Gene3D; 1.20.900.10; -; 1.
DR   Gene3D; 2.30.29.30; -; 1.
DR   InterPro; IPR035899; DBL_dom_sf.
DR   InterPro; IPR000219; DH-domain.
DR   InterPro; IPR011993; PH-like_dom_sf.
DR   InterPro; IPR001849; PH_domain.
DR   Pfam; PF00621; RhoGEF; 1.
DR   SMART; SM00233; PH; 1.
DR   SUPFAM; SSF48065; SSF48065; 1.
DR   PROSITE; PS50010; DH_2; 1.
DR   PROSITE; PS50003; PH_DOMAIN; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Coiled coil; Cytoplasm;
KW   Guanine-nucleotide releasing factor; Phosphoprotein; Reference proteome.
FT   CHAIN           1..1519
FT                   /note="Rho guanine nucleotide exchange factor 40"
FT                   /id="PRO_0000314822"
FT   DOMAIN          1085..1253
FT                   /note="DH"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00062"
FT   DOMAIN          1265..1372
FT                   /note="PH"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT   REGION          194..237
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          253..503
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          955..1031
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          1466..1519
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COILED          828..871
FT                   /evidence="ECO:0000255"
FT   COILED          934..961
FT                   /evidence="ECO:0000255"
FT   COMPBIAS        202..217
FT                   /note="Pro residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        276..292
FT                   /note="Basic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        425..454
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        955..970
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        979..995
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   MOD_RES         262
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:19369195,
FT                   ECO:0007744|PubMed:24275569"
FT   MOD_RES         371
FT                   /note="Phosphothreonine"
FT                   /evidence="ECO:0007744|PubMed:24275569"
FT   MOD_RES         419
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:24275569"
FT   MOD_RES         931
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:23186163"
FT   MOD_RES         961
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:23186163"
FT   MOD_RES         1082
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:21406692"
FT   MOD_RES         1433
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:24275569"
FT   MOD_RES         1438
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:24275569"
FT   MOD_RES         1474
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:24275569"
FT   MOD_RES         1492
FT                   /note="Phosphothreonine"
FT                   /evidence="ECO:0007744|PubMed:23186163"
FT   VAR_SEQ         1..714
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_030381"
FT   VAR_SEQ         1415..1519
FT                   /note="AARTRASVAVSSFEHAGPSLPGLSPGACSLPARVEEEAWDLDVKQISLAPET
FT                   LDSSGDVSPGPRNSPSLQPPHPGSSTPTLASRGILGLSRQSHARALSDPTTPL -> GE
FT                   GQGAGGWPPGVKTLTMRIQRGGMVESQERHLVPKSVGLAGRPSVRLRVIPGSQEGFPTP
FT                   APHPPLPTLCSRPHPGLRGRVIL (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:17974005"
FT                   /id="VSP_030382"
FT   VAR_SEQ         1415..1462
FT                   /note="Missing (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_030383"
FT   VARIANT         956
FT                   /note="V -> L (in dbSNP:rs7143633)"
FT                   /evidence="ECO:0000269|PubMed:14702039,
FT                   ECO:0000269|PubMed:17974005, ECO:0007744|PubMed:23186163"
FT                   /id="VAR_038061"
FT   VARIANT         1189
FT                   /note="L -> S (in dbSNP:rs1958396)"
FT                   /evidence="ECO:0000269|PubMed:14702039,
FT                   ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005"
FT                   /id="VAR_038062"
FT   VARIANT         1312
FT                   /note="M -> T (in dbSNP:rs943992)"
FT                   /id="VAR_038063"
FT   VARIANT         1418
FT                   /note="T -> P (in dbSNP:rs17855344)"
FT                   /evidence="ECO:0000269|PubMed:15489334"
FT                   /id="VAR_060541"
FT   CONFLICT        293
FT                   /note="K -> E (in Ref. 1; BAB15753)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   1519 AA;  164658 MW;  E59DD53AE399E2E6 CRC64;
     MEPEPVEDCV QSTLAALYPP FEATAPTLLG QVFQVVERTY REDALRYTLD FLVPAKHLLA
     KVQQEACAQY SGFLFFHEGW PLCLHEQVVV QLAALPWQLL RPGDFYLQVV PSAAQAPRLA
     LKCLAPGGGR VQEVPVPNEA CAYLFTPEWL QGINKDRPTG RLSTCLLSAP SGIQRLPWAE
     LICPRFVHKE GLMVGHQPST LPPELPSGPP GLPSPPLPEE ALGTRSPGDG HNAPVEGPEG
     EYVELLEVTL PVRGSPTDAE GSPGLSRVRT VPTRKGAGGK GRHRRHRAWM HQKGLGPRGQ
     DGARPPGEGS STGASPESPP GAEAVPEAAV LEVSEPPAEA VGEASGSCPL RPGELRGGGG
     GGQGAEGPPG TPRRTGKGNR RKKRAAGRGA LSRGGDSAPL SPGDKEDASH QEALGNLPSP
     SEHKLPECHL VKEEYEGSGK PESEPKELKT AGEKEPQLSE ACGPTEEGAG ERELEGPGLL
     CMAGHTGPEG PLSDTPTPPL ETVQEGKGDN IPEEALAVSV SDHPDVAWDL MASGFLILTG
     GVDQSGRALL TITPPCPPEE PPPSRDTLNT TLHYLHSLLR PDLQTLGLSV LLDLRQAPPL
     PPALIPALSQ LQDSGDPPLV QRLLILIHDD LPTELCGFQG AEVLSENDLK RVAKPEELQW
     ELGGHRDPSP SHWVEIHQEV VRLCRLCQGV LGSVRQAIEE LEGAAEPEEE EAVGMPKPLQ
     KVLADPRLTA LQRDGGAILM RLRSTPSSKL EGQGPATLYQ EVDEAIHQLV RLSNLHVQQQ
     EQRQCLRRLQ QVLQWLSGPG EEQLASFAMP GDTLSALQET ELRFRAFSAE VQERLAQARE
     ALALEENATS QKVLDIFEQR LEQVESGLHR ALRLQRFFQQ AHEWVDEGFA RLAGAGPGRE
     AVLAALALRR APEPSAGTFQ EMRALALDLG SPAALREWGR CQARCQELER RIQQHVGEEA
     SPRGYRRRRA DGASSGGAQW GPRSPSPSLS SLLLPSSPGP RPAPSHCSLA PCGEDYEEEG
     PELAPEAEGR PPRAVLIRGL EVTSTEVVDR TCSPREHVLL GRARGPDGPW GVGTPRMERK
     RSISAQQRLV SELIACEQDY VATLSEPVPP PGPELTPELR GTWAAALSAR ERLRSFHRTH
     FLRELQGCAT HPLRIGACFL RHGDQFSLYA QYVKHRHKLE NGLAALSPLS KGSMEAGPYL
     PRALQQPLEQ LTRYGRLLEE LLREAGPELS SECRALGAAV QLLREQEARG RDLLAVEAVR
     GCEIDLKEQG QLLHRDPFTV ICGRKKCLRH VFLFEHLLLF SKLKGPEGGS EMFVYKQAFK
     TADMGLTENI GDSGLCFELW FRRRRAREAY TLQATSPEIK LKWTSSIAQL LWRQAAHNKE
     LRVQQMVSMG IGNKPFLDIK ALGERTLSAL LTGRAARTRA SVAVSSFEHA GPSLPGLSPG
     ACSLPARVEE EAWDLDVKQI SLAPETLDSS GDVSPGPRNS PSLQPPHPGS STPTLASRGI
     LGLSRQSHAR ALSDPTTPL
 
 
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