RFX4_HUMAN
ID RFX4_HUMAN Reviewed; 735 AA.
AC Q33E94; A8K5Y0; B2RDW4; Q33DW6; Q33DW7; Q33E95; Q6YM53; Q8MHQ1; Q8NC78;
AC Q8NDF9; Q8SNA1; Q96S80; Q9BXI0;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 03-MAY-2011, sequence version 2.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=Transcription factor RFX4;
DE AltName: Full=Regulatory factor X 4;
DE AltName: Full=Testis development protein NYD-SP10;
GN Name=RFX4;
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).
RC TISSUE=Brain;
RX PubMed=12925582; DOI=10.1242/dev.00661;
RA Blackshear P.J., Graves J.P., Stumpo D.J., Cobos I., Rubenstein J.L.R.,
RA Zeldin D.C.;
RT "Graded phenotypic response to partial and complete deficiency of a brain-
RT specific transcript variant of the winged helix transcription factor
RT RFX4.";
RL Development 130:4539-4552(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, AND
RP VARIANT ASN-687.
RC TISSUE=Astrocytoma, and Testis;
RX PubMed=16271074; DOI=10.1111/j.1349-7006.2005.00112.x;
RA Matsushita H., Uenaka A., Ono T., Hasegawa K., Sato S., Koizumi F.,
RA Nakagawa K., Toda M., Shingo T., Ichikawa T., Noguchi Y., Tamiya T.,
RA Furuta T., Kawase T., Date I., Nakayama E.;
RT "Identification of glioma-specific RFX4-E and -F isoforms and humoral
RT immune response in patients.";
RL Cancer Sci. 96:801-809(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY, AND VARIANT
RP ASN-687.
RC TISSUE=Testis;
RX PubMed=16193984; DOI=10.1166/jnn.2005.212;
RA Huang X., Zhou Z., Yin L., Zhu H., Wang L., Lin M., Zhou Y., Sha J.;
RT "Identification of a novel substrate for tyrosine kinase in human testes.";
RL J. Nanosci. Nanotechnol. 5:1236-1239(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
RC TISSUE=Brain, and Testis;
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=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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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] (ISOFORM 3).
RC TISSUE=Testis;
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 NUCLEOTIDE SEQUENCE [MRNA] OF 1-545 (ISOFORM 4), TISSUE SPECIFICITY, AND
RP INTERACTION WITH RFX2 AND RFX3.
RX PubMed=11682486; DOI=10.1074/jbc.m108638200;
RA Morotomi-Yano K., Yano K., Saito H., Sun Z., Iwama A., Miki Y.;
RT "Human regulatory factor X 4 (RFX4) is a testis-specific dimeric DNA-
RT binding protein that cooperates with other human RFX members.";
RL J. Biol. Chem. 277:836-842(2002).
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 256-735 (ISOFORM 1).
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).
CC -!- FUNCTION: Transcription factor that plays a role in early brain
CC development. May activate transcription by interacting directly with
CC the X-box. May activate transcription from CX3CL1 promoter through the
CC X-box during brain development. {ECO:0000250|UniProtKB:Q7TNK1}.
CC -!- SUBUNIT: Homodimer. Heterodimer with RFX2 and RFX3 (PubMed:11682486).
CC Interacts with GPS2 (By similarity). {ECO:0000250|UniProtKB:Q7TNK1,
CC ECO:0000269|PubMed:11682486}.
CC -!- INTERACTION:
CC Q33E94; P14079: tax; Xeno; NbExp=3; IntAct=EBI-9675925, EBI-9675698;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00858}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1; Synonyms=RFX4-D, RFX4_v3;
CC IsoId=Q33E94-1; Sequence=Displayed;
CC Name=2; Synonyms=RFX4-C, RFX4_v4;
CC IsoId=Q33E94-2; Sequence=VSP_030243;
CC Name=3; Synonyms=RFX4-A, RFX4_v1;
CC IsoId=Q33E94-3; Sequence=VSP_030242, VSP_030244;
CC Name=4;
CC IsoId=Q33E94-4; Sequence=VSP_030243, VSP_030245, VSP_030246;
CC -!- TISSUE SPECIFICITY: Isoform 1: Expressed in brain and gliomas (at
CC protein level). Isoform 2: Testis-specific (at protein level). Isoform
CC 3: Testis-specific (at protein level). Isoform 3: Expressed at a higher
CC level in adult testes and ejaculated spermatozoa than in fetal testes.
CC Isoform 4: Testis-specific. {ECO:0000269|PubMed:11682486,
CC ECO:0000269|PubMed:16193984, ECO:0000269|PubMed:16271074}.
CC -!- SIMILARITY: Belongs to the RFX family. {ECO:0000255|PROSITE-
CC ProRule:PRU00858}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB59001.1; Type=Miscellaneous discrepancy; Note=Probable intron retention.; Evidence={ECO:0000305};
CC Sequence=BAC11288.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAE48237.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAE48238.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AY102009; AAM52484.1; -; mRNA.
DR EMBL; AB095365; BAE48231.1; -; mRNA.
DR EMBL; AB095366; BAE48232.1; -; mRNA.
DR EMBL; AB195784; BAE48237.1; ALT_INIT; mRNA.
DR EMBL; AB195785; BAE48238.1; ALT_INIT; mRNA.
DR EMBL; AF332192; AAK17191.1; -; mRNA.
DR EMBL; AK074913; BAC11288.1; ALT_INIT; mRNA.
DR EMBL; AK291445; BAF84134.1; -; mRNA.
DR EMBL; AK315698; BAG38061.1; -; mRNA.
DR EMBL; AC009721; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC079385; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471054; EAW97783.1; -; Genomic_DNA.
DR EMBL; CH471054; EAW97784.1; -; Genomic_DNA.
DR EMBL; CH471054; EAW97782.1; -; Genomic_DNA.
DR EMBL; BC028582; AAH28582.1; -; mRNA.
DR EMBL; BC030644; AAH30644.1; -; mRNA.
DR EMBL; AB044245; BAB59001.1; ALT_SEQ; mRNA.
DR EMBL; AL833921; CAD38777.1; -; mRNA.
DR CCDS; CCDS55880.1; -. [Q33E94-2]
DR CCDS; CCDS9106.1; -. [Q33E94-1]
DR CCDS; CCDS9108.1; -. [Q33E94-3]
DR RefSeq; NP_001193620.1; NM_001206691.1. [Q33E94-2]
DR RefSeq; NP_115880.2; NM_032491.5. [Q33E94-3]
DR RefSeq; NP_998759.1; NM_213594.2. [Q33E94-1]
DR AlphaFoldDB; Q33E94; -.
DR SMR; Q33E94; -.
DR BioGRID; 111924; 4.
DR IntAct; Q33E94; 1.
DR MINT; Q33E94; -.
DR STRING; 9606.ENSP00000350552; -.
DR iPTMnet; Q33E94; -.
DR PhosphoSitePlus; Q33E94; -.
DR BioMuta; RFX4; -.
DR DMDM; 332278145; -.
DR MassIVE; Q33E94; -.
DR PaxDb; Q33E94; -.
DR PeptideAtlas; Q33E94; -.
DR PRIDE; Q33E94; -.
DR ProteomicsDB; 61639; -. [Q33E94-1]
DR ProteomicsDB; 61640; -. [Q33E94-2]
DR ProteomicsDB; 61641; -. [Q33E94-3]
DR ProteomicsDB; 61642; -. [Q33E94-4]
DR Antibodypedia; 30672; 142 antibodies from 22 providers.
DR DNASU; 5992; -.
DR Ensembl; ENST00000229387.6; ENSP00000229387.5; ENSG00000111783.13. [Q33E94-3]
DR Ensembl; ENST00000357881.8; ENSP00000350552.4; ENSG00000111783.13. [Q33E94-2]
DR Ensembl; ENST00000392842.6; ENSP00000376585.1; ENSG00000111783.13. [Q33E94-1]
DR GeneID; 5992; -.
DR KEGG; hsa:5992; -.
DR MANE-Select; ENST00000392842.6; ENSP00000376585.1; NM_213594.3; NP_998759.1.
DR UCSC; uc001tlr.4; human. [Q33E94-1]
DR CTD; 5992; -.
DR DisGeNET; 5992; -.
DR GeneCards; RFX4; -.
DR HGNC; HGNC:9985; RFX4.
DR HPA; ENSG00000111783; Group enriched (brain, testis).
DR MIM; 603958; gene.
DR neXtProt; NX_Q33E94; -.
DR OpenTargets; ENSG00000111783; -.
DR PharmGKB; PA34355; -.
DR VEuPathDB; HostDB:ENSG00000111783; -.
DR eggNOG; KOG3712; Eukaryota.
DR GeneTree; ENSGT01050000244879; -.
DR HOGENOM; CLU_377067_0_0_1; -.
DR InParanoid; Q33E94; -.
DR OMA; YQLNSQM; -.
DR OrthoDB; 346630at2759; -.
DR TreeFam; TF321340; -.
DR PathwayCommons; Q33E94; -.
DR SignaLink; Q33E94; -.
DR SIGNOR; Q33E94; -.
DR BioGRID-ORCS; 5992; 13 hits in 1092 CRISPR screens.
DR ChiTaRS; RFX4; human.
DR GeneWiki; RFX4; -.
DR GenomeRNAi; 5992; -.
DR Pharos; Q33E94; Tbio.
DR PRO; PR:Q33E94; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; Q33E94; protein.
DR Bgee; ENSG00000111783; Expressed in adult organism and 80 other tissues.
DR ExpressionAtlas; Q33E94; baseline and differential.
DR Genevisible; Q33E94; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:NTNU_SB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0060271; P:cilium assembly; IEA:Ensembl.
DR GO; GO:0021914; P:negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning; IBA:GO_Central.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR GO; GO:0070613; P:regulation of protein processing; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0021537; P:telencephalon development; IEA:Ensembl.
DR Gene3D; 1.10.10.10; -; 1.
DR InterPro; IPR003150; DNA-bd_RFX.
DR InterPro; IPR039779; RFX-like.
DR InterPro; IPR036388; WH-like_DNA-bd_sf.
DR InterPro; IPR036390; WH_DNA-bd_sf.
DR PANTHER; PTHR12619; PTHR12619; 1.
DR Pfam; PF02257; RFX_DNA_binding; 1.
DR SUPFAM; SSF46785; SSF46785; 1.
DR PROSITE; PS51526; RFX_DBD; 1.
PE 1: Evidence at protein level;
KW Activator; Alternative splicing; DNA-binding; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..735
FT /note="Transcription factor RFX4"
FT /id="PRO_0000314237"
FT DNA_BIND 44..126
FT DNA_BIND 61..136
FT /note="RFX-type winged-helix"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00858"
FT REGION 27..59
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 315..487
FT /note="Necessary for dimerization"
FT REGION 504..540
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..94
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:16193984"
FT /id="VSP_030242"
FT VAR_SEQ 1..12
FT /note="MHCGLLEEPDMD -> MIKRRAHPGAGGDRTRPRRRR (in isoform 2
FT and isoform 4)"
FT /evidence="ECO:0000303|PubMed:11682486,
FT ECO:0000303|PubMed:16271074"
FT /id="VSP_030243"
FT VAR_SEQ 95..126
FT /note="TQPVNAASFGKIIRQQFPQLTTRRLGTRGQSK -> MNWAAFGGSEFFIPEG
FT IQIDSRCPLSRNITEW (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:16193984"
FT /id="VSP_030244"
FT VAR_SEQ 546..554
FT /note="AMQSYTWSL -> NGKSFKNFG (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:11682486"
FT /id="VSP_030245"
FT VAR_SEQ 555..735
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:11682486"
FT /id="VSP_030246"
FT VARIANT 687
FT /note="S -> N"
FT /evidence="ECO:0000269|PubMed:16193984,
FT ECO:0000269|PubMed:16271074"
FT /id="VAR_037873"
FT VARIANT 698
FT /note="S -> A (in dbSNP:rs17038766)"
FT /id="VAR_057152"
FT CONFLICT 417
FT /note="Q -> R (in Ref. 3; AAK17191)"
FT /evidence="ECO:0000305"
FT CONFLICT 423
FT /note="V -> E (in Ref. 4; BAC11288)"
FT /evidence="ECO:0000305"
FT CONFLICT 477
FT /note="A -> T (in Ref. 7; AAH28582)"
FT /evidence="ECO:0000305"
FT CONFLICT 522
FT /note="V -> M (in Ref. 1; AAM52484)"
FT /evidence="ECO:0000305"
FT CONFLICT 549
FT /note="S -> A (in Ref. 2; BAE48231/BAE48237/BAE48238 and 3;
FT AAK17191)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 735 AA; 83368 MW; 9C2422428B9D7E8B CRC64;
MHCGLLEEPD MDSTESWIER CLNESENKRY SSHTSLGNVS NDENEEKENN RASKPHSTPA
TLQWLEENYE IAEGVCIPRS ALYMHYLDFC EKNDTQPVNA ASFGKIIRQQ FPQLTTRRLG
TRGQSKYHYY GIAVKESSQY YDVMYSKKGA AWVSETGKKE VSKQTVAYSP RSKLGTLLPE
FPNVKDLNLP ASLPEEKVST FIMMYRTHCQ RILDTVIRAN FDEVQSFLLH FWQGMPPHML
PVLGSSTVVN IVGVCDSILY KAISGVLMPT VLQALPDSLT QVIRKFAKQL DEWLKVALHD
LPENLRNIKF ELSRRFSQIL RRQTSLNHLC QASRTVIHSA DITFQMLEDW RNVDLNSITK
QTLYTMEDSR DEHRKLITQL YQEFDHLLEE QSPIESYIEW LDTMVDRCVV KVAAKRQGSL
KKVAQQFLLM WSCFGTRVIR DMTLHSAPSF GSFHLIHLMF DDYVLYLLES LHCQERANEL
MRAMKGEGST AEVREEIILT EAAAPTPSPV PSFSPAKSAT SVEVPPPSSP VSNPSPEYTG
LSTTGAMQSY TWSLTYTVTT AAGSPAENSQ QLPCMRNTHV PSSSVTHRIP VYPHREEHGY
TGSYNYGSYG NQHPHPMQSQ YPALPHDTAI SGPLHYAPYH RSSAQYPFNS PTSRMEPCLM
SSTPRLHPTP VTPRWPEVPS ANTCYTSPSV HSARYGNSSD MYTPLTTRRN SEYEHMQHFP
GFAYINGEAS TGWAK
