RESF1_HUMAN
ID RESF1_HUMAN Reviewed; 1747 AA.
AC Q9HCM1; B2RTU5; Q4KN17; Q9NVL6; Q9NWP9;
DT 24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 3.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=Retroelement silencing factor 1 {ECO:0000305};
GN Name=RESF1 {ECO:0000312|HGNC:HGNC:25559}; Synonyms=C12orf35, KIAA1551;
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 GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C.,
RA Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R.,
RA Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E.,
RA Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y.,
RA Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G.,
RA Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H.,
RA Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S.,
RA Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M.,
RA Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H.,
RA Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q.,
RA Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V.,
RA Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E.,
RA Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R.,
RA David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E.,
RA D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N.,
RA Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N.,
RA Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R.,
RA Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S.,
RA LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H.,
RA Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P.,
RA Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G.,
RA Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E.,
RA Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S.,
RA Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O.,
RA Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y.,
RA Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A.,
RA Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F.,
RA Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L.,
RA Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G.,
RA Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT PRO-518.
RC TISSUE=Brain;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1293 AND 1369-1747, AND
RP VARIANTS GLY-352; PRO-518 AND CYS-1208.
RC TISSUE=Ileal mucosa, and Placenta;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 167-1395, AND VARIANTS GLN-309;
RP GLY-352 AND PRO-518.
RC TISSUE=Brain;
RX PubMed=10997877; DOI=10.1093/dnares/7.4.271;
RA Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVIII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:273-281(2000).
RN [5]
RP IDENTIFICATION BY 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 [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1358, 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 [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-221; THR-1240; SER-1358 AND
RP SER-1708, AND IDENTIFICATION BY MASS 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 [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1740, 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).
RN [9]
RP SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-216; LYS-707; LYS-1136; LYS-1528;
RP LYS-1636 AND LYS-1723, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP ANALYSIS].
RX PubMed=28112733; DOI=10.1038/nsmb.3366;
RA Hendriks I.A., Lyon D., Young C., Jensen L.J., Vertegaal A.C.,
RA Nielsen M.L.;
RT "Site-specific mapping of the human SUMO proteome reveals co-modification
RT with phosphorylation.";
RL Nat. Struct. Mol. Biol. 24:325-336(2017).
CC -!- FUNCTION: Plays a role in the regulation of imprinted gene expression,
CC regulates repressive epigenetic modifications associated with SETDB1.
CC Required for the recruitment or accumulation of SETDB1 to the
CC endogenous retroviruses (ERVs) and maintenance of repressive chromatin
CC configuration, contributing to a subset of the SETDB1-dependent ERV
CC silencing in embryonic stem cells. {ECO:0000250|UniProtKB:Q5DTW7}.
CC -!- SUBUNIT: Interacts with SETDB1. {ECO:0000250|UniProtKB:Q5DTW7}.
CC -!- INTERACTION:
CC Q9HCM1; O76013-2: KRT36; NbExp=3; IntAct=EBI-308368, EBI-11958506;
CC Q9HCM1; O43790: KRT86; NbExp=3; IntAct=EBI-308368, EBI-9996498;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q5DTW7}.
CC Note=Localizes around gamma-tubulin during M phase.
CC {ECO:0000250|UniProtKB:Q5DTW7}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA91330.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
CC Sequence=BAA91734.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB13377.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305};
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DR EMBL; AC016957; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC098115; AAH98115.1; -; mRNA.
DR EMBL; BC114509; AAI14510.1; -; mRNA.
DR EMBL; BC114956; AAI14957.1; -; mRNA.
DR EMBL; BC140819; AAI40820.1; -; mRNA.
DR EMBL; AK000703; BAA91330.1; ALT_SEQ; mRNA.
DR EMBL; AK001514; BAA91734.1; ALT_INIT; mRNA.
DR EMBL; AK092399; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AB046771; BAB13377.1; ALT_SEQ; mRNA.
DR CCDS; CCDS8725.2; -.
DR RefSeq; NP_060639.3; NM_018169.3.
DR RefSeq; XP_005253462.1; XM_005253405.2.
DR RefSeq; XP_011519024.1; XM_011520722.1.
DR RefSeq; XP_016875039.1; XM_017019550.1.
DR AlphaFoldDB; Q9HCM1; -.
DR BioGRID; 120493; 15.
DR DIP; DIP-37599N; -.
DR IntAct; Q9HCM1; 25.
DR MINT; Q9HCM1; -.
DR STRING; 9606.ENSP00000310338; -.
DR iPTMnet; Q9HCM1; -.
DR PhosphoSitePlus; Q9HCM1; -.
DR BioMuta; KIAA1551; -.
DR DMDM; 317373452; -.
DR EPD; Q9HCM1; -.
DR jPOST; Q9HCM1; -.
DR MassIVE; Q9HCM1; -.
DR MaxQB; Q9HCM1; -.
DR PaxDb; Q9HCM1; -.
DR PeptideAtlas; Q9HCM1; -.
DR PRIDE; Q9HCM1; -.
DR ProteomicsDB; 81754; -.
DR Antibodypedia; 2871; 27 antibodies from 11 providers.
DR DNASU; 55196; -.
DR Ensembl; ENST00000312561.9; ENSP00000310338.4; ENSG00000174718.12.
DR GeneID; 55196; -.
DR KEGG; hsa:55196; -.
DR MANE-Select; ENST00000312561.9; ENSP00000310338.4; NM_018169.4; NP_060639.4.
DR UCSC; uc001rks.4; human.
DR CTD; 55196; -.
DR DisGeNET; 55196; -.
DR GeneCards; RESF1; -.
DR HGNC; HGNC:25559; RESF1.
DR HPA; ENSG00000174718; Tissue enhanced (ovary).
DR neXtProt; NX_Q9HCM1; -.
DR OpenTargets; ENSG00000174718; -.
DR PharmGKB; PA143485365; -.
DR VEuPathDB; HostDB:ENSG00000174718; -.
DR eggNOG; ENOG502S9FU; Eukaryota.
DR GeneTree; ENSGT00390000018491; -.
DR HOGENOM; CLU_002739_0_0_1; -.
DR InParanoid; Q9HCM1; -.
DR OMA; MYMEKRS; -.
DR OrthoDB; 57132at2759; -.
DR PhylomeDB; Q9HCM1; -.
DR TreeFam; TF336094; -.
DR PathwayCommons; Q9HCM1; -.
DR SignaLink; Q9HCM1; -.
DR BioGRID-ORCS; 55196; 14 hits in 1082 CRISPR screens.
DR ChiTaRS; KIAA1551; human.
DR GenomeRNAi; 55196; -.
DR Pharos; Q9HCM1; Tdark.
DR PRO; PR:Q9HCM1; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q9HCM1; protein.
DR Bgee; ENSG00000174718; Expressed in right uterine tube and 197 other tissues.
DR ExpressionAtlas; Q9HCM1; baseline and differential.
DR Genevisible; Q9HCM1; HS.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0042393; F:histone binding; ISS:UniProtKB.
DR GO; GO:1990226; F:histone methyltransferase binding; IBA:GO_Central.
DR GO; GO:0045869; P:negative regulation of single stranded viral RNA replication via double stranded DNA intermediate; ISS:UniProtKB.
DR GO; GO:0090309; P:positive regulation of DNA methylation-dependent heterochromatin assembly; ISS:UniProtKB.
DR InterPro; IPR027866; RESF1.
DR PANTHER; PTHR21604; PTHR21604; 1.
DR Pfam; PF15395; DUF4617; 1.
PE 1: Evidence at protein level;
KW Isopeptide bond; Nucleus; Phosphoprotein; Reference proteome;
KW Ubl conjugation.
FT CHAIN 1..1747
FT /note="Retroelement silencing factor 1"
FT /id="PRO_0000295242"
FT REGION 261..280
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 833..856
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 923..956
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1073..1101
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1200..1274
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1686..1716
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 925..940
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 941..956
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1073..1090
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1246..1270
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1686..1701
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 221
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1145
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5DTW7"
FT MOD_RES 1240
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1358
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692,
FT ECO:0007744|PubMed:23186163"
FT MOD_RES 1708
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1740
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT CROSSLNK 216
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 707
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 1136
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 1528
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 1636
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT CROSSLNK 1723
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO2)"
FT /evidence="ECO:0007744|PubMed:28112733"
FT VARIANT 59
FT /note="I -> V (in dbSNP:rs7298803)"
FT /id="VAR_033268"
FT VARIANT 106
FT /note="H -> Q (in dbSNP:rs2388981)"
FT /id="VAR_033269"
FT VARIANT 147
FT /note="P -> S (in dbSNP:rs61353224)"
FT /id="VAR_061608"
FT VARIANT 202
FT /note="I -> V (in dbSNP:rs12320740)"
FT /id="VAR_033270"
FT VARIANT 250
FT /note="L -> P (in dbSNP:rs2166807)"
FT /id="VAR_033271"
FT VARIANT 309
FT /note="R -> Q (in dbSNP:rs16919122)"
FT /evidence="ECO:0000269|PubMed:10997877"
FT /id="VAR_033272"
FT VARIANT 346
FT /note="S -> N (in dbSNP:rs3207618)"
FT /id="VAR_033273"
FT VARIANT 352
FT /note="S -> G (in dbSNP:rs10771894)"
FT /evidence="ECO:0000269|PubMed:10997877,
FT ECO:0000269|PubMed:14702039"
FT /id="VAR_033274"
FT VARIANT 433
FT /note="S -> T (in dbSNP:rs3759302)"
FT /id="VAR_033275"
FT VARIANT 518
FT /note="S -> P (in dbSNP:rs3759301)"
FT /evidence="ECO:0000269|PubMed:10997877,
FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334"
FT /id="VAR_033276"
FT VARIANT 954
FT /note="F -> S (in dbSNP:rs3809228)"
FT /id="VAR_033277"
FT VARIANT 1010
FT /note="T -> K (in dbSNP:rs16919127)"
FT /id="VAR_033278"
FT VARIANT 1208
FT /note="S -> C (in dbSNP:rs3759299)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_033279"
FT VARIANT 1226
FT /note="V -> I (in dbSNP:rs1057994)"
FT /id="VAR_033280"
FT VARIANT 1338
FT /note="T -> A (in dbSNP:rs3759296)"
FT /id="VAR_033281"
FT VARIANT 1479
FT /note="M -> T (in dbSNP:rs56682866)"
FT /id="VAR_061609"
FT CONFLICT 1152
FT /note="P -> L (in Ref. 3; BAA91330)"
FT /evidence="ECO:0000305"
FT CONFLICT 1459
FT /note="L -> P (in Ref. 3; BAA91734)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1747 AA; 194857 MW; 41EE41C7ABC65A13 CRC64;
MNWNEKPKSA TLPPLYPKSQ PPFLHQSLIN QITTTSQSSF SYPGSNQEAC MYPGNSNPIS
QPLLNIQNYP QQISVSDMHN GTVVASHTSV ERITYANVNG PKQLTHNLQM SSGVTQNVWL
NSPMRNPVHS HIGATVSHQT DFGANVPNMP ALQSQLITSD TYSMQMQMIP SNSTRLPVAY
QGNQGLNQSF SEQQVDWTQQ CISKGLTYPD YRPPPKLYRY SPQSFLPDST IQKQNFIPHT
SLQVKNSQLL NSVLTLPSRQ TSAVPSQQYA TQTDKRPPPP PYNCRYGSQP LQSTQHITKH
LSMEVPQSRE MLSSEIRTSF QQQWQNPNEN VSTIGNFTNL KVNTNSKQPF NSPIRSSVDG
VQTLAQTNEE KIMDSCNPTS NQVLDTSVAK EKLVRDIKTL VEIKQKFSEL ARKIKINKDL
LMAAGCIKMT NTSYSEPAQN SKLSLKQTAK IQSGPQITPV MPENAERQTP TVVESAETNK
TQCMLNSDIQ EVNCRRFNQV DSVLPNPVYS EKRPMPDSSH DVKVLTSKTS AVEMTQAVLN
TQLSSENVTK VEQNSPAVCE TISVPKSMST EEYKSKIQNE NMLLLALLSQ ARKTQKTVLK
DANQTIQDSK PDSCEMNPNT QMTGNQLNLK NMETPSTSNV SGRVLDNSFC SGQESSTKGM
PAKSDSSCSM EVLATCLSLW KKQPSDTAKE KECDKLRTNT TAVGISKPAN IHVKSPCSVV
GNSNSQNKIS NPSQQTALSM VMHNYESSGI NITKGTELQI AVVSPLVLSE VKTLSVKGIT
PAVLPETVYP VIKEGSVCSL QNQLAENAKA TAALKVDVSG PVASTATSTK IFPLTQKEKQ
NESTNGNSEV TPNVNQGKHN KLESAIHSPM NDQQISQESR NSTVVSSDTL QIDNICSLVE
GDTSYNSQIA KIFSSLPLKM VEPQKPSLPN QQGIGSREPE KQLDNTTENK DFGFQKDKPV
QCTDVSHKIC DQSKSEPPLE SSFNNLETNR VILEKSSLEH ATEKSTANDT CSSAAIQEDI
YPQEIDASSN YTPQDPARNE IHSDKAPVLY LHDQLSELLK EFPYGIEAVN TREGSVGQQT
TYQTSEDQTA DKTSSDSKDP ADQIQITILS SEQMKEIFPE QDDQPYVVDK LAEPQKEEPI
TEVVSQCDLQ APAAGQSRDS VILDSEKDDI HCCALGWLSM VYEGVPQCQC NSIKNSSSEE
EKQKEQCSPL DTNSCKQGER TSDRDVTVVQ FKSLVNNPKT PPDGKSHFPE LQDDSRKDTP
KTKHKSLPRT EQELVAGQFS SKCDKLNPLQ NHKRKKLRFH EVTFHSSNKM TASYEQASQE
TRQKKHVTQN SRPLKTKTAF LPNKDVYKKH SSLGQSLSPE KIKLKLKSVS FKQKRKLDQG
NVLDMEVKKK KHDKQEQKGS VGATFKLGDS LSNPNERAIV KEKMVSNTKS VDTKASSSKF
SRILTPKEYL QRQKHKEALS NKASKKICVK NVPCDSEHMR PSKLAVQVES CGKSNEKHSS
GVQTSKESLN GLTSHGKNLK IHHSQESKTY NILRNVKEKV GGKQPDKIWI DKTKLDKLTN
ISNEAQFSQM PPQVKDQKKL YLNRVGFKCT ERESISLTKL ESSPRKLHKD KRQENKHKTF
LPVKGNTEKS NMLEFKLCPD ILLKNTNSVE ERKDVKPHPR KEQAPLQVSG IKSTKEDWLK
FVATKKRTQK DSQERDNVNS RLSKRSFSAD GFEMLQNPVK DSKEMFQTYK QMYLEKRSRS
LGSSPVK
