ZN408_HUMAN
ID ZN408_HUMAN Reviewed; 720 AA.
AC Q9H9D4;
DT 16-NOV-2001, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2001, sequence version 1.
DT 03-AUG-2022, entry version 181.
DE RecName: Full=Zinc finger protein 408;
DE AltName: Full=PR domain zinc finger protein 17;
GN Name=ZNF408; Synonyms=PFM14, PRDM17;
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].
RA Du Y., Huang S.;
RT "A family of novel PR-domain (PRDM) genes as candidate tumor suppressors.";
RL Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 MRNA].
RC TISSUE=Lung, and Uterus;
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 PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-322, AND IDENTIFICATION BY
RP 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 [5]
RP TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INVOLVEMENT IN EVR6, VARIANTS
RP EVR6 ASN-126 AND TYR-455, AND CHARACTERIZATION OF VARIANTS EVR6 ASN-126 AND
RP TYR-455.
RX PubMed=23716654; DOI=10.1073/pnas.1220864110;
RA Collin R.W., Nikopoulos K., Dona M., Gilissen C., Hoischen A.,
RA Boonstra F.N., Poulter J.A., Kondo H., Berger W., Toomes C., Tahira T.,
RA Mohn L.R., Blokland E.A., Hetterschijt L., Ali M., Groothuismink J.M.,
RA Duijkers L., Inglehearn C.F., Sollfrank L., Strom T.M., Uchio E.,
RA van Nouhuys C.E., Kremer H., Veltman J.A., van Wijk E., Cremers F.P.;
RT "ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial
RT for the development of zebrafish retinal vasculature.";
RL Proc. Natl. Acad. Sci. U.S.A. 110:9856-9861(2013).
RN [6]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-322, 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 [7]
RP TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INVOLVEMENT IN RP72, VARIANTS
RP ARG-492 AND LYS-583, VARIANT RP72 CYS-541, AND CHARACTERIZATION OF VARIANT
RP RP72 CYS-541.
RX PubMed=25882705; DOI=10.1093/hmg/ddv140;
RA Avila-Fernandez A., Perez-Carro R., Corton M., Lopez-Molina M.I.,
RA Campello L., Garanto A., Fernandez-Sanchez L., Duijkers L.,
RA Lopez-Martinez M.A., Riveiro-Alvarez R., Da Silva L.R., Sanchez-Alcudia R.,
RA Martin-Garrido E., Reyes N., Garcia-Garcia F., Dopazo J.,
RA Garcia-Sandoval B., Collin R.W., Cuenca N., Ayuso C.;
RT "Whole-exome sequencing reveals ZNF408 as a new gene associated with
RT autosomal recessive retinitis pigmentosa with vitreal alterations.";
RL Hum. Mol. Genet. 24:4037-4048(2015).
CC -!- FUNCTION: May be involved in transcriptional regulation.
CC -!- INTERACTION:
CC Q9H9D4; Q6ZN18-2: AEBP2; NbExp=3; IntAct=EBI-347633, EBI-10255023;
CC Q9H9D4; Q8WTP8-2: AEN; NbExp=3; IntAct=EBI-347633, EBI-12119298;
CC Q9H9D4; Q9NRW3: APOBEC3C; NbExp=3; IntAct=EBI-347633, EBI-1044593;
CC Q9H9D4; Q8TBE0: BAHD1; NbExp=3; IntAct=EBI-347633, EBI-742750;
CC Q9H9D4; Q13137: CALCOCO2; NbExp=4; IntAct=EBI-347633, EBI-739580;
CC Q9H9D4; Q8NHQ1: CEP70; NbExp=9; IntAct=EBI-347633, EBI-739624;
CC Q9H9D4; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-347633, EBI-3867333;
CC Q9H9D4; Q92997: DVL3; NbExp=4; IntAct=EBI-347633, EBI-739789;
CC Q9H9D4; Q13868: EXOSC2; NbExp=3; IntAct=EBI-347633, EBI-301735;
CC Q9H9D4; Q14192: FHL2; NbExp=3; IntAct=EBI-347633, EBI-701903;
CC Q9H9D4; Q5TD97: FHL5; NbExp=3; IntAct=EBI-347633, EBI-750641;
CC Q9H9D4; A1L4K1: FSD2; NbExp=3; IntAct=EBI-347633, EBI-5661036;
CC Q9H9D4; Q9NWQ4: GPATCH2L; NbExp=3; IntAct=EBI-347633, EBI-5666657;
CC Q9H9D4; P61978-2: HNRNPK; NbExp=3; IntAct=EBI-347633, EBI-7060731;
CC Q9H9D4; Q7L273: KCTD9; NbExp=3; IntAct=EBI-347633, EBI-4397613;
CC Q9H9D4; O75525: KHDRBS3; NbExp=4; IntAct=EBI-347633, EBI-722504;
CC Q9H9D4; Q6A162: KRT40; NbExp=3; IntAct=EBI-347633, EBI-10171697;
CC Q9H9D4; Q07627: KRTAP1-1; NbExp=3; IntAct=EBI-347633, EBI-11959885;
CC Q9H9D4; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-347633, EBI-10172290;
CC Q9H9D4; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-347633, EBI-10171774;
CC Q9H9D4; P59991: KRTAP12-2; NbExp=3; IntAct=EBI-347633, EBI-10176379;
CC Q9H9D4; P60328: KRTAP12-3; NbExp=3; IntAct=EBI-347633, EBI-11953334;
CC Q9H9D4; P26371: KRTAP5-9; NbExp=3; IntAct=EBI-347633, EBI-3958099;
CC Q9H9D4; O95751: LDOC1; NbExp=3; IntAct=EBI-347633, EBI-740738;
CC Q9H9D4; Q9Y333: LSM2; NbExp=4; IntAct=EBI-347633, EBI-347416;
CC Q9H9D4; Q9BRK4: LZTS2; NbExp=4; IntAct=EBI-347633, EBI-741037;
CC Q9H9D4; Q99750: MDFI; NbExp=6; IntAct=EBI-347633, EBI-724076;
CC Q9H9D4; Q9UJV3-2: MID2; NbExp=3; IntAct=EBI-347633, EBI-10172526;
CC Q9H9D4; Q96E11: MRRF; NbExp=3; IntAct=EBI-347633, EBI-2855755;
CC Q9H9D4; Q5JR59-3: MTUS2; NbExp=3; IntAct=EBI-347633, EBI-11522433;
CC Q9H9D4; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-347633, EBI-22310682;
CC Q9H9D4; Q5VU43: PDE4DIP; NbExp=3; IntAct=EBI-347633, EBI-1105124;
CC Q9H9D4; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-347633, EBI-79165;
CC Q9H9D4; Q9UL42: PNMA2; NbExp=3; IntAct=EBI-347633, EBI-302355;
CC Q9H9D4; Q8WWY3: PRPF31; NbExp=3; IntAct=EBI-347633, EBI-1567797;
CC Q9H9D4; O43586: PSTPIP1; NbExp=3; IntAct=EBI-347633, EBI-1050964;
CC Q9H9D4; Q53GL6: RALY; NbExp=3; IntAct=EBI-347633, EBI-9512693;
CC Q9H9D4; P98175: RBM10; NbExp=3; IntAct=EBI-347633, EBI-721525;
CC Q9H9D4; Q15415: RBMY1J; NbExp=3; IntAct=EBI-347633, EBI-8642021;
CC Q9H9D4; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-347633, EBI-5235340;
CC Q9H9D4; Q9Y2D8: SSX2IP; NbExp=3; IntAct=EBI-347633, EBI-2212028;
CC Q9H9D4; Q9NVV9: THAP1; NbExp=4; IntAct=EBI-347633, EBI-741515;
CC Q9H9D4; Q08117-2: TLE5; NbExp=3; IntAct=EBI-347633, EBI-11741437;
CC Q9H9D4; P36406: TRIM23; NbExp=3; IntAct=EBI-347633, EBI-740098;
CC Q9H9D4; Q8WV44: TRIM41; NbExp=4; IntAct=EBI-347633, EBI-725997;
CC Q9H9D4; Q7KZS0: UBE2I; NbExp=3; IntAct=EBI-347633, EBI-10180829;
CC Q9H9D4; A0A024R8A9: USP20; NbExp=3; IntAct=EBI-347633, EBI-14096082;
CC Q9H9D4; Q9HCK0: ZBTB26; NbExp=3; IntAct=EBI-347633, EBI-3918996;
CC Q9H9D4; P10074: ZBTB48; NbExp=3; IntAct=EBI-347633, EBI-744864;
CC Q9H9D4; Q96BR9: ZBTB8A; NbExp=4; IntAct=EBI-347633, EBI-742740;
CC Q9H9D4; Q9NQZ6: ZC4H2; NbExp=3; IntAct=EBI-347633, EBI-747993;
CC Q9H9D4; Q96PQ6: ZNF317; NbExp=3; IntAct=EBI-347633, EBI-1210473;
CC Q9H9D4; Q9Y3S2: ZNF330; NbExp=4; IntAct=EBI-347633, EBI-373456;
CC Q9H9D4; Q9H9D4: ZNF408; NbExp=8; IntAct=EBI-347633, EBI-347633;
CC Q9H9D4; Q8WTR7: ZNF473; NbExp=3; IntAct=EBI-347633, EBI-751409;
CC Q9H9D4; Q8TF50: ZNF526; NbExp=3; IntAct=EBI-347633, EBI-11035148;
CC Q9H9D4; Q96H86: ZNF764; NbExp=3; IntAct=EBI-347633, EBI-745775;
CC Q9H9D4; Q3KQV3: ZNF792; NbExp=6; IntAct=EBI-347633, EBI-10240849;
CC Q9H9D4; Q96EG3: ZNF837; NbExp=3; IntAct=EBI-347633, EBI-11962574;
CC Q9H9D4; Q9UGI0: ZRANB1; NbExp=3; IntAct=EBI-347633, EBI-527853;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23716654,
CC ECO:0000269|PubMed:25882705}.
CC -!- TISSUE SPECIFICITY: Highest expression is observed in adult retina;
CC abundantly expressed in the fetal eye (PubMed:23716654). In the retina,
CC it is detected in the outer nuclear layer, especially cone and rod
CC photoreceptor cells, ganglion cell layer and both outer and inner
CC plexiform layers (at protein level) (PubMed:25882705). Expressed in
CC retinal blood vessels (at protein level) (PubMed:25882705).
CC {ECO:0000269|PubMed:23716654, ECO:0000269|PubMed:25882705}.
CC -!- DISEASE: Vitreoretinopathy, exudative 6 (EVR6) [MIM:616468]: A form of
CC exudative vitreoretinopathy, a disorder of the retinal vasculature
CC characterized by an abrupt cessation of growth of peripheral
CC capillaries, leading to an avascular peripheral retina. This may lead
CC to compensatory retinal neovascularization, which is thought to be
CC induced by hypoxia from the initial avascular insult. New vessels are
CC prone to leakage and rupture causing exudates and bleeding, followed by
CC scarring, retinal detachment and blindness. Clinical features can be
CC highly variable, even within the same family. Patients with mild forms
CC of the disease are asymptomatic, and their only disease related
CC abnormality is an arc of avascular retina in the extreme temporal
CC periphery. {ECO:0000269|PubMed:23716654}. Note=The disease is caused by
CC variants affecting the gene represented in this entry.
CC -!- DISEASE: Retinitis pigmentosa 72 (RP72) [MIM:616469]: A retinal
CC dystrophy belonging to the group of pigmentary retinopathies. Retinitis
CC pigmentosa is characterized by retinal pigment deposits visible on
CC fundus examination and primary loss of rod photoreceptor cells followed
CC by secondary loss of cone photoreceptors. Patients typically have night
CC vision blindness and loss of midperipheral visual field. As their
CC condition progresses, they lose their far peripheral visual field and
CC eventually central vision as well. {ECO:0000269|PubMed:25882705}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
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DR EMBL; AF346626; AAK29075.1; -; mRNA.
DR EMBL; AK022889; BAB14295.1; -; mRNA.
DR EMBL; BC013355; AAH13355.1; -; mRNA.
DR EMBL; BC015708; AAH15708.1; -; mRNA.
DR CCDS; CCDS7923.1; -.
DR RefSeq; NP_001171680.1; NM_001184751.1.
DR RefSeq; NP_079017.1; NM_024741.2.
DR AlphaFoldDB; Q9H9D4; -.
DR SMR; Q9H9D4; -.
DR BioGRID; 122894; 147.
DR IntAct; Q9H9D4; 128.
DR MINT; Q9H9D4; -.
DR STRING; 9606.ENSP00000309606; -.
DR iPTMnet; Q9H9D4; -.
DR PhosphoSitePlus; Q9H9D4; -.
DR BioMuta; ZNF408; -.
DR DMDM; 17368963; -.
DR EPD; Q9H9D4; -.
DR jPOST; Q9H9D4; -.
DR MassIVE; Q9H9D4; -.
DR MaxQB; Q9H9D4; -.
DR PaxDb; Q9H9D4; -.
DR PeptideAtlas; Q9H9D4; -.
DR PRIDE; Q9H9D4; -.
DR ProteomicsDB; 81314; -.
DR ABCD; Q9H9D4; 1 sequenced antibody.
DR Antibodypedia; 13426; 186 antibodies from 19 providers.
DR DNASU; 79797; -.
DR Ensembl; ENST00000311764.3; ENSP00000309606.2; ENSG00000175213.3.
DR GeneID; 79797; -.
DR KEGG; hsa:79797; -.
DR MANE-Select; ENST00000311764.3; ENSP00000309606.2; NM_024741.3; NP_079017.1.
DR UCSC; uc001nde.3; human.
DR CTD; 79797; -.
DR DisGeNET; 79797; -.
DR GeneCards; ZNF408; -.
DR HGNC; HGNC:20041; ZNF408.
DR HPA; ENSG00000175213; Low tissue specificity.
DR MalaCards; ZNF408; -.
DR MIM; 616454; gene.
DR MIM; 616468; phenotype.
DR MIM; 616469; phenotype.
DR neXtProt; NX_Q9H9D4; -.
DR OpenTargets; ENSG00000175213; -.
DR Orphanet; 891; Familial exudative vitreoretinopathy.
DR Orphanet; 791; Retinitis pigmentosa.
DR PharmGKB; PA134936136; -.
DR VEuPathDB; HostDB:ENSG00000175213; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00930000151062; -.
DR HOGENOM; CLU_002678_51_0_1; -.
DR InParanoid; Q9H9D4; -.
DR OMA; HRPEAPC; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; Q9H9D4; -.
DR TreeFam; TF331495; -.
DR PathwayCommons; Q9H9D4; -.
DR SignaLink; Q9H9D4; -.
DR BioGRID-ORCS; 79797; 24 hits in 1100 CRISPR screens.
DR ChiTaRS; ZNF408; human.
DR GenomeRNAi; 79797; -.
DR Pharos; Q9H9D4; Tbio.
DR PRO; PR:Q9H9D4; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9H9D4; protein.
DR Bgee; ENSG00000175213; Expressed in endothelial cell and 158 other tissues.
DR Genevisible; Q9H9D4; HS.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0042802; F:identical protein binding; IPI:IntAct.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR CDD; cd10520; PR-SET_PRDM17; 1.
DR Gene3D; 2.170.270.10; -; 1.
DR InterPro; IPR044412; PRDM17_PR-SET.
DR InterPro; IPR046341; SET_dom_sf.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF00096; zf-C2H2; 7.
DR SMART; SM00355; ZnF_C2H2; 10.
DR SUPFAM; SSF57667; SSF57667; 5.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 10.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 10.
PE 1: Evidence at protein level;
KW Disease variant; DNA-binding; Metal-binding; Nucleus; Phosphoprotein;
KW Reference proteome; Repeat; Retinitis pigmentosa; Transcription;
KW Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1..720
FT /note="Zinc finger protein 408"
FT /id="PRO_0000047569"
FT ZN_FING 353..375
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 381..403
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 409..431
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 437..459
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 468..490
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 496..518
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 524..546
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 551..573
FT /note="C2H2-type 8"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 579..601
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 607..629
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 201..350
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 271..300
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 327..343
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 322
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163,
FT ECO:0007744|PubMed:24275569"
FT VARIANT 126
FT /note="S -> N (in EVR6; unknown pathological significance;
FT does not affect localization to the nucleus;
FT dbSNP:rs536561101)"
FT /evidence="ECO:0000269|PubMed:23716654"
FT /id="VAR_074612"
FT VARIANT 337
FT /note="R -> P (in dbSNP:rs36017347)"
FT /id="VAR_052823"
FT VARIANT 455
FT /note="H -> Y (in EVR6; severely decreased localization to
FT the nucleus; dbSNP:rs373273223)"
FT /evidence="ECO:0000269|PubMed:23716654"
FT /id="VAR_074613"
FT VARIANT 492
FT /note="G -> R (in dbSNP:rs561740128)"
FT /evidence="ECO:0000269|PubMed:25882705"
FT /id="VAR_074614"
FT VARIANT 541
FT /note="R -> C (in RP72; decreased localization to the
FT nucleus; dbSNP:rs781192528)"
FT /evidence="ECO:0000269|PubMed:25882705"
FT /id="VAR_074615"
FT VARIANT 583
FT /note="Q -> K"
FT /evidence="ECO:0000269|PubMed:25882705"
FT /id="VAR_074616"
SQ SEQUENCE 720 AA; 78439 MW; 0D3CDA7572D17721 CRC64;
MEEAEELLLE GKKALQLARE PRLGLDLGWN PSGEGCTQGL KDVPPEPTRD ILALKSLPRG
LALGPSLAKE QRLGVWCVGD PLQPGLLWGP LEEESASKEK GEGVKPRQEE NLSLGPWGDV
CACEQSSGWT SLVQRGRLES EGNVAPVRIS ERLHLQVYQL VLPGSELLLW PQPSSEGPSL
TQPGLDKEAA VAVVTEVESA VQQEVASPGE DAAEPCIDPG SQSPSGIQAE NMVSPGLKFP
TQDRISKDSQ PLGPLLQDGD VDEECPAQAQ MPPELQSNSA TQQDPDGSGA SFSSSARGTQ
PHGYLAKKLH SPSDQCPPRA KTPEPGAQQS GFPTLSRSPP GPAGSSPKQG RRYRCGECGK
AFLQLCHLKK HAFVHTGHKP FLCTECGKSY SSEESFKAHM LGHRGVRPFP CPQCDKAYGT
QRDLKEHQVV HSGARPFACD QCGKAFARRP SLRLHRKTHQ VPAAPAPCPC PVCGRPLANQ
GSLRNHMRLH TGEKPFLCPH CGRAFRQRGN LRGHLRLHTG ERPYRCPHCA DAFPQLPELR
RHLISHTGEA HLCPVCGKAL RDPHTLRAHE RLHSGERPFP CPQCGRAYTL ATKLRRHLKS
HLEDKPYRCP TCGMGYTLPQ SLRRHQLSHR PEAPCSPPSV PSAASEPTVV LLQAEPQLLD
THREEEVSPA RDVVEVTISE SQEKCFVVPE EPDAAPSLVL IHKDMGLGAW AEVVEVEMGT
