ZN292_HUMAN
ID ZN292_HUMAN Reviewed; 2723 AA.
AC O60281; Q5W0B2; Q7Z3L7; Q9H8G3; Q9H8J4;
DT 15-NOV-2002, integrated into UniProtKB/Swiss-Prot.
DT 23-MAR-2010, sequence version 3.
DT 03-AUG-2022, entry version 193.
DE RecName: Full=Zinc finger protein 292;
GN Name=ZNF292; Synonyms=KIAA0530;
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=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-2338 (ISOFORM 1), AND VARIANT
RP VAL-1740.
RC TISSUE=Endometrium;
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., Ottenwalder 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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 754-1628 AND 1893-2540 (ISOFORMS
RP 1/2).
RC TISSUE=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 1161-2723 (ISOFORMS 1/2), AND
RP VARIANTS VAL-1740 AND ILE-2045.
RC TISSUE=Brain;
RX PubMed=9628581; DOI=10.1093/dnares/5.1.31;
RA Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N.,
RA Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. IX. The
RT complete sequences of 100 new cDNA clones from brain which can code for
RT large proteins in vitro.";
RL DNA Res. 5:31-39(1998).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1159, 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 [6]
RP STRUCTURE BY NMR OF 2094-2154.
RG RIKEN structural genomics initiative (RSGI);
RT "Solution structure of the C2H2 type zinc-binding domain of human zinc
RT finger protein 292.";
RL Submitted (JAN-2006) to the PDB data bank.
RN [7]
RP VARIANTS MRD64 89-ARG--TYR-2723 DEL; 454-ARG--TYR-2723 DEL; VAL-470;
RP 523-GLN--TYR-2723 DEL; 620-GLU--TYR-2723 DEL; 633-ARG--TYR-2723 DEL;
RP 1271-SER--TYR-2723 DEL; 1633-LYS--TYR-2723 DEL; 1729-GLN--TYR-2723 DEL;
RP 2115-ARG--TYR-2723 DEL; 2181-ARG--TYR-2723 DEL; SER-2193 AND ASN-2354 DEL,
RP AND INVOLVEMENT IN MRD64.
RX PubMed=31723249; DOI=10.1038/s41436-019-0693-9;
RG Undiagnosed Diseases Network,;
RG University of Washington Center for Mendelian Genomics (UW-CMG),;
RA Mirzaa G.M., Chong J.X., Piton A., Popp B., Foss K., Guo H., Harripaul R.,
RA Xia K., Scheck J., Aldinger K.A., Sajan S.A., Tang S., Bonneau D., Beck A.,
RA White J., Mahida S., Harris J., Smith-Hicks C., Hoyer J., Zweier C.,
RA Reis A., Thiel C.T., Jamra R.A., Zeid N., Yang A., Farach L.S., Walsh L.,
RA Payne K., Rohena L., Velinov M., Ziegler A., Schaefer E., Gatinois V.,
RA Genevieve D., Simon M.E.H., Kohler J., Rotenberg J., Wheeler P., Larson A.,
RA Ernst M.E., Akman C.I., Westman R., Blanchet P., Schillaci L.A.,
RA Vincent-Delorme C., Gripp K.W., Mattioli F., Guyader G.L., Gerard B.,
RA Mathieu-Dramard M., Morin G., Sasanfar R., Ayub M., Vasli N., Yang S.,
RA Person R., Monaghan K.G., Nickerson D.A., van Binsbergen E., Enns G.M.,
RA Dries A.M., Rowe L.J., Tsai A.C.H., Svihovec S., Friedman J., Agha Z.,
RA Qamar R., Rodan L.H., Martinez-Agosto J., Ockeloen C.W., Vincent M.,
RA Sunderland W.J., Bernstein J.A., Eichler E.E., Vincent J.B., Bamshad M.J.;
RT "De novo and inherited variants in ZNF292 underlie a neurodevelopmental
RT disorder with features of autism spectrum disorder.";
RL Genet. Med. 22:538-546(2020).
CC -!- FUNCTION: May be involved in transcriptional regulation.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O60281-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O60281-2; Sequence=VSP_038857, VSP_038858;
CC -!- DISEASE: Intellectual developmental disorder, autosomal dominant 64
CC (MRD64) [MIM:619188]: An autosomal dominant form of intellectual
CC disability, a disorder characterized by significantly below average
CC general intellectual functioning associated with impairments in
CC adaptive behavior and manifested during the developmental period. MRD64
CC is characterized by mildly to severely impaired intellectual
CC development, speech delay, and autism spectrum disorder in most
CC patients. Additional variable features may include motor delay,
CC attention deficit-hyperactivity disorder, and non-specific dysmorphic
CC features. {ECO:0000269|PubMed:31723249}. Note=The disease is caused by
CC variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein
CC family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB14622.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAB14654.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=CAD97823.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAD97823.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=CAD97823.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
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DR EMBL; AL139274; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX537746; CAD97823.1; ALT_SEQ; mRNA.
DR EMBL; AK023626; BAB14622.1; ALT_INIT; mRNA.
DR EMBL; AK023712; BAB14654.1; ALT_INIT; mRNA.
DR EMBL; AB011102; BAA25456.1; -; mRNA.
DR CCDS; CCDS47457.1; -. [O60281-1]
DR RefSeq; NP_055836.1; NM_015021.1. [O60281-1]
DR PDB; 1X3C; NMR; -; A=2094-2153.
DR PDBsum; 1X3C; -.
DR BMRB; O60281; -.
DR SMR; O60281; -.
DR BioGRID; 116675; 43.
DR IntAct; O60281; 20.
DR MINT; O60281; -.
DR STRING; 9606.ENSP00000358590; -.
DR GlyGen; O60281; 2 sites, 1 O-linked glycan (2 sites).
DR iPTMnet; O60281; -.
DR PhosphoSitePlus; O60281; -.
DR BioMuta; ZNF292; -.
DR EPD; O60281; -.
DR jPOST; O60281; -.
DR MassIVE; O60281; -.
DR MaxQB; O60281; -.
DR PaxDb; O60281; -.
DR PeptideAtlas; O60281; -.
DR PRIDE; O60281; -.
DR ProteomicsDB; 49309; -. [O60281-1]
DR ProteomicsDB; 49310; -. [O60281-2]
DR Antibodypedia; 31770; 58 antibodies from 17 providers.
DR DNASU; 23036; -.
DR Ensembl; ENST00000369577.8; ENSP00000358590.3; ENSG00000188994.13. [O60281-1]
DR GeneID; 23036; -.
DR KEGG; hsa:23036; -.
DR MANE-Select; ENST00000369577.8; ENSP00000358590.3; NM_015021.3; NP_055836.1.
DR UCSC; uc003plm.5; human. [O60281-1]
DR CTD; 23036; -.
DR DisGeNET; 23036; -.
DR GeneCards; ZNF292; -.
DR HGNC; HGNC:18410; ZNF292.
DR HPA; ENSG00000188994; Low tissue specificity.
DR MalaCards; ZNF292; -.
DR MIM; 616213; gene.
DR MIM; 619188; phenotype.
DR neXtProt; NX_O60281; -.
DR OpenTargets; ENSG00000188994; -.
DR PharmGKB; PA134945416; -.
DR VEuPathDB; HostDB:ENSG00000188994; -.
DR eggNOG; KOG1721; Eukaryota.
DR GeneTree; ENSGT00950000183034; -.
DR HOGENOM; CLU_000520_0_0_1; -.
DR InParanoid; O60281; -.
DR OMA; LIVFKQC; -.
DR OrthoDB; 1318335at2759; -.
DR PhylomeDB; O60281; -.
DR TreeFam; TF350813; -.
DR PathwayCommons; O60281; -.
DR SignaLink; O60281; -.
DR BioGRID-ORCS; 23036; 22 hits in 1107 CRISPR screens.
DR ChiTaRS; ZNF292; human.
DR EvolutionaryTrace; O60281; -.
DR GenomeRNAi; 23036; -.
DR Pharos; O60281; Tbio.
DR PRO; PR:O60281; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; O60281; protein.
DR Bgee; ENSG00000188994; Expressed in caput epididymis and 212 other tissues.
DR ExpressionAtlas; O60281; baseline and differential.
DR Genevisible; O60281; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0003677; F:DNA binding; IBA:GO_Central.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR InterPro; IPR036236; Znf_C2H2_sf.
DR InterPro; IPR013087; Znf_C2H2_type.
DR Pfam; PF00096; zf-C2H2; 1.
DR SMART; SM00355; ZnF_C2H2; 16.
DR SUPFAM; SSF57667; SSF57667; 2.
DR PROSITE; PS00028; ZINC_FINGER_C2H2_1; 13.
DR PROSITE; PS50157; ZINC_FINGER_C2H2_2; 11.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Alternative splicing; Autism spectrum disorder;
KW Coiled coil; Disease variant; DNA-binding; Intellectual disability;
KW Metal-binding; Nucleus; Phosphoprotein; Reference proteome; Repeat;
KW Transcription; Transcription regulation; Zinc; Zinc-finger.
FT CHAIN 1..2723
FT /note="Zinc finger protein 292"
FT /id="PRO_0000047514"
FT ZN_FING 569..591
FT /note="C2H2-type 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 681..705
FT /note="C2H2-type 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 722..744
FT /note="C2H2-type 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 750..774
FT /note="C2H2-type 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 779..803
FT /note="C2H2-type 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 807..831
FT /note="C2H2-type 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 1098..1123
FT /note="C2H2-type 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 1375..1397
FT /note="C2H2-type 8; degenerate"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 1902..1927
FT /note="C2H2-type 9"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 1947..1972
FT /note="C2H2-type 10"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 2114..2139
FT /note="C2H2-type 11"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 2172..2197
FT /note="C2H2-type 12"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 2216..2241
FT /note="C2H2-type 13"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 2256..2281
FT /note="C2H2-type 14"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT ZN_FING 2386..2410
FT /note="C2H2-type 15"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00042"
FT REGION 608..633
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 825..860
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1331..1364
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1588..1634
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1986..2023
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2074..2103
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2285..2345
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2441..2480
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2530..2564
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2606..2631
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 1827..1854
FT /evidence="ECO:0000255"
FT COMPBIAS 614..633
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 844..860
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1588..1622
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1993..2009
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2078..2092
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2441..2456
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 654
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q9Z2U2"
FT MOD_RES 1117
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000250|UniProtKB:Q9Z2U2"
FT MOD_RES 1159
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:19690332"
FT MOD_RES 2042
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000250|UniProtKB:Q9Z2U2"
FT VAR_SEQ 1..140
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_038857"
FT VAR_SEQ 180..184
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000305"
FT /id="VSP_038858"
FT VARIANT 89..2723
FT /note="Missing (in MRD64)"
FT /evidence="ECO:0000269|PubMed:31723249"
FT /id="VAR_085258"
FT VARIANT 454..2723
FT /note="Missing (in MRD64)"
FT /evidence="ECO:0000269|PubMed:31723249"
FT /id="VAR_085259"
FT VARIANT 470
FT /note="I -> V (in MRD64; unknown pathological significance;
FT dbSNP:rs1166797338)"
FT /evidence="ECO:0000269|PubMed:31723249"
FT /id="VAR_085260"
FT VARIANT 523..2723
FT /note="Missing (in MRD64)"
FT /evidence="ECO:0000269|PubMed:31723249"
FT /id="VAR_085261"
FT VARIANT 620..2723
FT /note="Missing (in MRD64)"
FT /evidence="ECO:0000269|PubMed:31723249"
FT /id="VAR_085262"
FT VARIANT 633..2723
FT /note="Missing (in MRD64)"
FT /evidence="ECO:0000269|PubMed:31723249"
FT /id="VAR_085263"
FT VARIANT 1271..2723
FT /note="Missing (in MRD64)"
FT /evidence="ECO:0000269|PubMed:31723249"
FT /id="VAR_085264"
FT VARIANT 1633..2723
FT /note="Missing (in MRD64)"
FT /evidence="ECO:0000269|PubMed:31723249"
FT /id="VAR_085265"
FT VARIANT 1729..2723
FT /note="Missing (in MRD64)"
FT /evidence="ECO:0000269|PubMed:31723249"
FT /id="VAR_085266"
FT VARIANT 1740
FT /note="I -> V (in dbSNP:rs9362415)"
FT /evidence="ECO:0000269|PubMed:9628581, ECO:0000269|Ref.2"
FT /id="VAR_062972"
FT VARIANT 2045
FT /note="V -> I (in dbSNP:rs6910541)"
FT /evidence="ECO:0000269|PubMed:9628581"
FT /id="VAR_062973"
FT VARIANT 2115..2723
FT /note="Missing (in MRD64)"
FT /evidence="ECO:0000269|PubMed:31723249"
FT /id="VAR_085267"
FT VARIANT 2181..2723
FT /note="Missing (in MRD64)"
FT /evidence="ECO:0000269|PubMed:31723249"
FT /id="VAR_085268"
FT VARIANT 2193
FT /note="Y -> S (in MRD64; unknown pathological significance;
FT dbSNP:rs1554208945)"
FT /evidence="ECO:0000269|PubMed:31723249"
FT /id="VAR_085269"
FT VARIANT 2354
FT /note="Missing (in MRD64; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:31723249"
FT /id="VAR_085270"
FT CONFLICT 896
FT /note="E -> V (in Ref. 3; BAB14622)"
FT /evidence="ECO:0000305"
FT CONFLICT 1003
FT /note="N -> D (in Ref. 3; BAB14622)"
FT /evidence="ECO:0000305"
FT CONFLICT 1217
FT /note="S -> P (in Ref. 2; CAD97823)"
FT /evidence="ECO:0000305"
FT CONFLICT 1355
FT /note="E -> K (in Ref. 3; BAB14622)"
FT /evidence="ECO:0000305"
FT CONFLICT 1530
FT /note="N -> S (in Ref. 3; BAB14622)"
FT /evidence="ECO:0000305"
FT CONFLICT 1846
FT /note="K -> E (in Ref. 2; CAD97823)"
FT /evidence="ECO:0000305"
FT CONFLICT 1953
FT /note="T -> A (in Ref. 2; CAD97823)"
FT /evidence="ECO:0000305"
FT CONFLICT 2162
FT /note="E -> K (in Ref. 3; BAB14654)"
FT /evidence="ECO:0000305"
FT STRAND 2105..2108
FT /evidence="ECO:0007829|PDB:1X3C"
FT HELIX 2128..2138
FT /evidence="ECO:0007829|PDB:1X3C"
FT STRAND 2139..2141
FT /evidence="ECO:0007829|PDB:1X3C"
SQ SEQUENCE 2723 AA; 304816 MW; A9E05072E9B64303 CRC64;
MADEEAEQER LSCGEGGCVA ELQRLGERLQ ELELQLRESR VPAVEAATDY CQQLCQTLLE
YAEKWKTSED PLPLLEVYTV AIQSYVKARP YLTSECENVA LVLERLALSC VELLLCLPVE
LSDKQWEQFQ TLVQVAHEKL MENGSCELHF LATLAQETGV WKNPVLCTIL SQEPLDKDKV
NEFLAFEGPI LLDMRIKHLI KTNQLSQATA LAKLCSDHPE IGIKGSFKQT YLVCLCTSSP
NGKLIEEISE VDCKDALEMI CNLESEGDEK SALVLCTAFL SRQLQQGDMY CAWELTLFWS
KLQQRVEPSI QVYLERCRQL SLLTKTVYHI FFLIKVINSE TEGAGLATCI ELCVKALRLE
STENTEVKIS ICKTISCLLP DDLEVKRACQ LSEFLIEPTV DAYYAVEMLY NQPDQKYDEE
NLPIPNSLRC ELLLVLKTQW PFDPEFWDWK TLKRQCLALM GEEASIVSSI DELNDSEVYE
KVVDYQEESK ETSMNGLSGG VGANSGLLKD IGDEKQKKRE IKQLRERGFI SARFRNWQAY
MQYCVLCDKE FLGHRIVRHA QKHYKDGIYS CPICAKNFNS KETFVPHVTL HVKQSSKERL
AAMKPLRRLG RPPKITTTNE NQKTNTVAKQ EQRPIKKNSL YSTDFIVFND NDGSDDENDD
KDKSYEPEVI PVQKPVPVNE FNCPVTFCKK GFKYFKNLIA HVKGHKDNED AKRFLEMQSK
KVICQYCRRH FVSVTHLNDH LQMHCGSKPY ICIQMKCKAG FNSYAELLTH RKEHQVFRAK
CMFPKCGRIF SEAYLLYDHE AQHYNTYTCK FTGCGKVYRS QGELEKHLDD HSTPPEKVLP
PEAQLNSSGD SIQPSEVNQN TAENIEKERS MLPSENNIEN SLLADRSDAW DKSKAESAVT
KQDQISASEL RQANGPLSNG LENPATTPLL QSSEVAVSIK VSLNQGIEDN FGKQENSTVE
GSGEALVTDL HTPVEDTCND LCHPGFQERK EQDCFNDAHV TQNSLVNSET LKIGDLTPQN
LERQVNNLMT FSVQNQAAFQ NNLPTSKFEC GDNVKTSSNL YNLPLKTLES IAFVPPQSDL
SNSLGTPSVP PKAPVQKFSC QVEGCTRTYN SSQSIGKHMK TAHPDQYAAF KMQRKSKKGQ
KANNLNTPNN GKFVYFLPSP VNSSNPFFTS QTKANGNPAC SAQLQHVSPP IFPAHLASVS
TPLLSSMESV INPNITSQDK NEQGGMLCSQ MENLPSTALP AQMEDLTKTV LPLNIDSGSD
PFLPLPAESS SMSLFPSPAD SGTNSVFSQL ENNTNHYSSQ IEGNTNSSFL KGGNGENAVF
PSQVNVANNF SSTNAQQSAP EKVKKDRGRG PNGKERKPKH NKRAKWPAII RDGKFICSRC
YRAFTNPRSL GGHLSKRSYC KPLDGAEIAQ ELLQSNGQPS LLASMILSTN AVNLQQPQQS
TFNPEACFKD PSFLQLLAEN RSPAFLPNTF PRSGVTNFNT SVSQEGSEII KQALETAGIP
STFEGAEMLS HVSTGCVSDA SQVNATVMPN PTVPPLLHTV CHPNTLLTNQ NRTSNSKTSS
IEECSSLPVF PTNDLLLKTV ENGLCSSSFP NSGGPSQNFT SNSSRVSVIS GPQNTRSSHL
NKKGNSASKR RKKVAPPLIA PNASQNLVTS DLTTMGLIAK SVEIPTTNLH SNVIPTCEPQ
SLVENLTQKL NNVNNQLFMT DVKENFKTSL ESHTVLAPLT LKTENGDSQM MALNSCTTSI
NSDLQISEDN VIQNFEKTLE IIKTAMNSQI LEVKSGSQGA GETSQNAQIN YNIQLPSVNT
VQNNKLPDSS PFSSFISVMP TKSNIPQSEV SHKEDQIQEI LEGLQKLKLE NDLSTPASQC
VLINTSVTLT PTPVKSTADI TVIQPVSEMI NIQFNDKVNK PFVCQNQGCN YSAMTKDALF
KHYGKIHQYT PEMILEIKKN QLKFAPFKCV VPTCTKTFTR NSNLRAHCQL VHHFTTEEMV
KLKIKRPYGR KSQSENVPAS RSTQVKKQLA MTEENKKESQ PALELRAETQ NTHSNVAVIP
EKQLVEKKSP DKTESSLQVI TVTSEQCNTN ALTNTQTKGR KIRRHKKEKE EKKRKKPVSQ
SLEFPTRYSP YRPYRCVHQG CFAAFTIQQN LILHYQAVHK SDLPAFSAEV EEESEAGKES
EETETKQTLK EFRCQVSDCS RIFQAITGLI QHYMKLHEMT PEEIESMTAS VDVGKFPCDQ
LECKSSFTTY LNYVVHLEAD HGIGLRASKT EEDGVYKCDC EGCDRIYATR SNLLRHIFNK
HNDKHKAHLI RPRRLTPGQE NMSSKANQEK SKSKHRGTKH SRCGKEGIKM PKTKRKKKNN
LENKNAKIVQ IEENKPYSLK RGKHVYSIKA RNDALSECTS RFVTQYPCMI KGCTSVVTSE
SNIIRHYKCH KLSKAFTSQH RNLLIVFKRC CNSQVKETSE QEGAKNDVKD SDTCVSESND
NSRTTATVSQ KEVEKNEKDE MDELTELFIT KLINEDSTSV ETQANTSSNV SNDFQEDNLC
QSERQKASNL KRVNKEKNVS QNKKRKVEKA EPASAAELSS VRKEEETAVA IQTIEEHPAS
FDWSSFKPMG FEVSFLKFLE ESAVKQKKNT DKDHPNTGNK KGSHSNSRKN IDKTAVTSGN
HVCPCKESET FVQFANPSQL QCSDNVKIVL DKNLKDCTEL VLKQLQEMKP TVSLKKLEVH
SNDPDMSVMK DISIGKATGR GQY
