PSD4_HUMAN
ID PSD4_HUMAN Reviewed; 1056 AA.
AC Q8NDX1; A6NEG7; A8K1Y0; O95621; Q4ZG34; Q6GPH8; Q8IYP4;
DT 03-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 03-OCT-2006, sequence version 2.
DT 03-AUG-2022, entry version 152.
DE RecName: Full=PH and SEC7 domain-containing protein 4;
DE AltName: Full=Exchange factor for ADP-ribosylation factor guanine nucleotide factor 6 B;
DE Short=Exchange factor for ARF6 B;
DE AltName: Full=Pleckstrin homology and SEC7 domain-containing protein 4;
DE AltName: Full=Telomeric of interleukin-1 cluster protein;
GN Name=PSD4;
GN Synonyms=EFA6B {ECO:0000303|PubMed:12082148, ECO:0000303|PubMed:23603394},
GN TIC;
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), FUNCTION, SUBCELLULAR LOCATION, AND
RP TISSUE SPECIFICITY.
RC TISSUE=Placenta;
RX PubMed=12082148; DOI=10.1242/jcs.115.14.2867;
RA Derrien V., Couillault C., Franco M., Martineau S., Montcourrier P.,
RA Houlgatte R., Chavrier P.;
RT "A conserved carboxy-terminal domain of EFA6-family ARF6-guanine nucleotide
RT exchange factors induces lengthening of microvilli-like membrane
RT protrusions.";
RL J. Cell Sci. 115:2867-2879(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Klenka T.P., Herbst R., Nicklin M.J.H.;
RT "A novel human gene (TIC) telomeric of interleukin-1 cluster on chromosome
RT 2q13, homologous to the S.cerevisiae gene SEC 7.";
RL Submitted (JUL-1996) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT ALA-269.
RG SeattleSNPs variation discovery resource;
RL Submitted (MAR-2006) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ALA-269.
RC TISSUE=Hippocampus;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ALA-269.
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP ALA-269.
RC TISSUE=Leukocyte, and Lymph;
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 [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-491, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [9]
RP FUNCTION, AND INTERACTION WITH VARIOUS PHOSPHATIDYLINOSITOL PHOSPHATE
RP SPECIES.
RX PubMed=21458045; DOI=10.1016/j.cell.2011.03.023;
RA Paul P., van den Hoorn T., Jongsma M.L., Bakker M.J., Hengeveld R.,
RA Janssen L., Cresswell P., Egan D.A., van Ham M., Ten Brinke A., Ovaa H.,
RA Beijersbergen R.L., Kuijl C., Neefjes J.;
RT "A Genome-wide multidimensional RNAi screen reveals pathways controlling
RT MHC class II antigen presentation.";
RL Cell 145:268-283(2011).
RN [10]
RP SUBCELLULAR LOCATION.
RX PubMed=23603394; DOI=10.1016/j.febslet.2013.03.042;
RA Ueda T., Hanai A., Takei T., Kubo K., Ohgi M., Sakagami H., Takahashi S.,
RA Shin H.W., Nakayama K.;
RT "EFA6 activates Arf6 and participates in its targeting to the Flemming body
RT during cytokinesis.";
RL FEBS Lett. 587:1617-1623(2013).
RN [11]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-131; SER-134; SER-143;
RP SER-413 AND SER-1019, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP 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 [12]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-448, 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: Guanine nucleotide exchange factor for ARF6 and ARL14/ARF7.
CC Through ARL14 activation, controls the movement of MHC class II-
CC containing vesicles along the actin cytoskeleton in dendritic cells.
CC Involved in membrane recycling. Interacts with several
CC phosphatidylinositol phosphate species, including phosphatidylinositol
CC 3,4-bisphosphate, phosphatidylinositol 3,5-bisphosphate and
CC phosphatidylinositol 4,5-bisphosphate. {ECO:0000269|PubMed:12082148,
CC ECO:0000269|PubMed:21458045}.
CC -!- INTERACTION:
CC Q8NDX1-2; Q5SW96: LDLRAP1; NbExp=6; IntAct=EBI-12215623, EBI-747813;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12082148,
CC ECO:0000269|PubMed:23603394}. Cell projection, ruffle membrane
CC {ECO:0000269|PubMed:12082148, ECO:0000269|PubMed:23603394}. Note=In
CC interphase associated with the plasma membrane, in particular with
CC membrane ruffling regions (PubMed:23603394). Accumulates in dynamic
CC actin-rich membrane ruffles and microvilli-like structures
CC (PubMed:12082148). Recruited to membranes via phosphatidylinositol
CC phosphate-binding (Probable). {ECO:0000269|PubMed:12082148,
CC ECO:0000269|PubMed:23603394, ECO:0000305|PubMed:12082148}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NDX1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NDX1-2; Sequence=VSP_020772, VSP_020773;
CC -!- TISSUE SPECIFICITY: Widely expressed. Highest levels of expression are
CC found in placenta, pancreas, spleen, thymus and peripheral blood.
CC {ECO:0000269|PubMed:12082148}.
CC -!- WEB RESOURCE: Name=SeattleSNPs;
CC URL="http://pga.gs.washington.edu/data/psd4/";
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DR EMBL; AJ459781; CAD30842.1; -; mRNA.
DR EMBL; U63127; AAD00107.1; -; mRNA.
DR EMBL; DQ452296; ABD96831.1; -; Genomic_DNA.
DR EMBL; AK290045; BAF82734.1; -; mRNA.
DR EMBL; AC016683; AAX88879.1; -; Genomic_DNA.
DR EMBL; CH471217; EAW73626.1; -; Genomic_DNA.
DR EMBL; BC035307; AAH35307.1; -; mRNA.
DR EMBL; BC073151; AAH73151.1; -; mRNA.
DR CCDS; CCDS33276.1; -. [Q8NDX1-1]
DR RefSeq; NP_036587.2; NM_012455.2. [Q8NDX1-1]
DR RefSeq; XP_005263691.1; XM_005263634.2. [Q8NDX1-1]
DR AlphaFoldDB; Q8NDX1; -.
DR SMR; Q8NDX1; -.
DR BioGRID; 117094; 17.
DR IntAct; Q8NDX1; 5.
DR STRING; 9606.ENSP00000245796; -.
DR iPTMnet; Q8NDX1; -.
DR PhosphoSitePlus; Q8NDX1; -.
DR BioMuta; PSD4; -.
DR DMDM; 115515975; -.
DR EPD; Q8NDX1; -.
DR jPOST; Q8NDX1; -.
DR MassIVE; Q8NDX1; -.
DR MaxQB; Q8NDX1; -.
DR PaxDb; Q8NDX1; -.
DR PeptideAtlas; Q8NDX1; -.
DR PRIDE; Q8NDX1; -.
DR ProteomicsDB; 73075; -. [Q8NDX1-1]
DR ProteomicsDB; 73076; -. [Q8NDX1-2]
DR Antibodypedia; 47549; 67 antibodies from 18 providers.
DR DNASU; 23550; -.
DR Ensembl; ENST00000245796.11; ENSP00000245796.6; ENSG00000125637.16. [Q8NDX1-1]
DR Ensembl; ENST00000441564.7; ENSP00000413997.2; ENSG00000125637.16. [Q8NDX1-2]
DR GeneID; 23550; -.
DR KEGG; hsa:23550; -.
DR MANE-Select; ENST00000245796.11; ENSP00000245796.6; NM_012455.3; NP_036587.2.
DR UCSC; uc002tjc.4; human. [Q8NDX1-1]
DR CTD; 23550; -.
DR DisGeNET; 23550; -.
DR GeneCards; PSD4; -.
DR HGNC; HGNC:19096; PSD4.
DR HPA; ENSG00000125637; Tissue enhanced (lymphoid).
DR MIM; 614442; gene.
DR neXtProt; NX_Q8NDX1; -.
DR OpenTargets; ENSG00000125637; -.
DR PharmGKB; PA134875981; -.
DR VEuPathDB; HostDB:ENSG00000125637; -.
DR eggNOG; KOG0932; Eukaryota.
DR GeneTree; ENSGT00940000161976; -.
DR HOGENOM; CLU_011021_2_0_1; -.
DR InParanoid; Q8NDX1; -.
DR OMA; SAQGEHR; -.
DR OrthoDB; 301851at2759; -.
DR PhylomeDB; Q8NDX1; -.
DR TreeFam; TF319755; -.
DR PathwayCommons; Q8NDX1; -.
DR SignaLink; Q8NDX1; -.
DR BioGRID-ORCS; 23550; 210 hits in 1078 CRISPR screens.
DR ChiTaRS; PSD4; human.
DR GenomeRNAi; 23550; -.
DR Pharos; Q8NDX1; Tbio.
DR PRO; PR:Q8NDX1; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q8NDX1; protein.
DR Bgee; ENSG00000125637; Expressed in granulocyte and 143 other tissues.
DR ExpressionAtlas; Q8NDX1; baseline and differential.
DR Genevisible; Q8NDX1; HS.
DR GO; GO:0016020; C:membrane; HDA:UniProtKB.
DR GO; GO:0032587; C:ruffle membrane; IDA:UniProtKB.
DR GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; IEA:UniProtKB-KW.
DR GO; GO:0005543; F:phospholipid binding; IEA:InterPro.
DR GO; GO:0032012; P:regulation of ARF protein signal transduction; IEA:InterPro.
DR CDD; cd00171; Sec7; 1.
DR Gene3D; 1.10.1000.11; -; 1.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR041681; PH_9.
DR InterPro; IPR001605; PH_dom-spectrin-type.
DR InterPro; IPR001849; PH_domain.
DR InterPro; IPR023394; Sec7_C_sf.
DR InterPro; IPR000904; Sec7_dom.
DR InterPro; IPR035999; Sec7_dom_sf.
DR Pfam; PF15410; PH_9; 1.
DR Pfam; PF01369; Sec7; 1.
DR PRINTS; PR00683; SPECTRINPH.
DR SMART; SM00233; PH; 1.
DR SMART; SM00222; Sec7; 1.
DR SUPFAM; SSF48425; SSF48425; 1.
DR PROSITE; PS50003; PH_DOMAIN; 1.
DR PROSITE; PS50190; SEC7; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cell projection; Coiled coil;
KW Guanine-nucleotide releasing factor; Lipid-binding; Membrane;
KW Phosphoprotein; Reference proteome.
FT CHAIN 1..1056
FT /note="PH and SEC7 domain-containing protein 4"
FT /id="PRO_0000251731"
FT DOMAIN 544..736
FT /note="SEC7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00189"
FT DOMAIN 776..892
FT /note="PH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00145"
FT REGION 25..71
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 87..149
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 195..239
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 340..362
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 388..533
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 546..581
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1004..1056
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 921..976
FT /evidence="ECO:0000255"
FT COMPBIAS 28..46
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 120..149
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 458..498
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 499..524
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 546..565
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1029..1045
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 131
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 134
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 143
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 413
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 448
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 469
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BLR5"
FT MOD_RES 491
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:19690332"
FT MOD_RES 1019
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1022
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q8BLR5"
FT VAR_SEQ 417..444
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_020772"
FT VAR_SEQ 820
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_020773"
FT VARIANT 83
FT /note="G -> R (in dbSNP:rs1562277)"
FT /id="VAR_051921"
FT VARIANT 233
FT /note="S -> P (in dbSNP:rs12472091)"
FT /id="VAR_051922"
FT VARIANT 269
FT /note="G -> A (in dbSNP:rs4849167)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3,
FT ECO:0000269|Ref.6"
FT /id="VAR_027712"
FT VARIANT 637
FT /note="R -> Q (in dbSNP:rs45487591)"
FT /id="VAR_051923"
FT VARIANT 658
FT /note="I -> V (in dbSNP:rs45574835)"
FT /id="VAR_051924"
FT CONFLICT 7
FT /note="L -> F (in Ref. 1; CAD30842 and 2; AAD00107)"
FT /evidence="ECO:0000305"
FT CONFLICT 8
FT /note="P -> L (in Ref. 2; AAD00107)"
FT /evidence="ECO:0000305"
FT CONFLICT 124
FT /note="E -> D (in Ref. 7; AAH35307)"
FT /evidence="ECO:0000305"
FT CONFLICT 410
FT /note="T -> I (in Ref. 2; AAD00107)"
FT /evidence="ECO:0000305"
FT CONFLICT 428
FT /note="L -> F (in Ref. 2; AAD00107)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1056 AA; 116249 MW; C1FC0F22DB596116 CRC64;
MMGDYRLPDH PQPMEILNLY LGDSLEPHPG ECPRETCSHE DPPEPFEEQT WATDPPEPTR
QNVPPWGSGV ELTHLGSWVH QDGLEPCQEQ TRATDPPEST RQDAPPWGSG VELTHLGSPS
AQREHRQNTA SPGSPVNSHL PGSPKQNRST STQVVFWAGI LQAQMCVLDL EEELEKTEGL
KAGLKCCLPT PPVDLPGDTG LHSSPPENED SGEDSSEPEG EGQAWLREGT PDSSPQWGAE
EESMFFSNPL FLASPCSENS ASGECFSWGA SDSHAGVRTG PESPATLEPP LPEDTVLWEL
ESEPDLGDGA AISGHCTPPF PVPIYKPHSI CWASVAAAEG APAAPPGHGE SEGDRLGPAP
SAAPCVDEAL TWESGCVGSD LGPAAHPVQP WASLSPEGWQ RGGPFWPQVT LNSQDRDERE
GGHPQESLPC TLAPCPWRSP ASSPEPSSPE SESRGPGPRP SPASSQEGSP QLQHHSSGIL
PKWTLDASQS SLLETDGEQP SSLKKKEAGE APKPGEEVKS EGTARPAETG DVQPDIHLTS
AEHENLRTPM NSSWLPGSPM PQAQSPEEGQ RPPAGDKLAN GVRNNKVAWN LASRLYRLEG
FRKSEVAAYL QKNNDFSRAV AEEYLSFFQF GGQSLDRALR SFLQALVLSG ETQERERILY
QFSRRFHHCN PGIFPSVDSV HTLTCAIMLL NTDLHGQNIG KSMSCQEFIT NLNGLRDGGN
FPKELLKALY WSIRSEKLEW AVDEEDTARP EKAQPSLPAG KMSKPFLQLA QDPTVPTYKQ
GILARKMHQD ADGKKTPWGK RGWKMFHTLL RGMVLYFLKQ GEDHCLEGES LVGQMVDEPV
GVHHSLATPA THYTKKPHVF QLRTADWRLY LFQAPTAKEM SSWIARINLA AATHSAPPFP
AAVGSQRRFV RPILPVGPAQ SSLEEQHRSH ENCLDAAADD LLDLQRNLPE RRGRGRELEE
HRLRKEYLEY EKTRYETYVQ LLVARLHCPS DALDLWEEQL GREAGGTREP KLSLKKSHSS
PSLHQDEAPT TAKVKRNISE RRTYRKIIPK RNRNQL
