ID CHD7_HUMAN Reviewed; 2997 AA. AC Q9P2D1; D0VBA5; E9PNZ2; Q05DI5; Q2TAN4; Q66K35; Q7Z6C0; Q7Z7Q2; Q9NXA0; AC Q9NXA3; DT 19-SEP-2002, integrated into UniProtKB/Swiss-Prot. DT 29-MAY-2007, sequence version 3. DT 27-MAR-2024, entry version 209. DE RecName: Full=Chromodomain-helicase-DNA-binding protein 7; DE Short=CHD-7; DE EC=3.6.4.12; DE AltName: Full=ATP-dependent helicase CHD7; GN Name=CHD7; Synonyms=KIAA1416; 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 4), AND ALTERNATIVE SPLICING. RA Colin C., Correa R.G., Tobaruella F.S., Sogayar M.C., Demasi M.A.; RT "Cloning and characterization of a novel alternatively spliced transcript RT of the human putative helicase CHD7."; RL Submitted (OCT-2009) to the EMBL/GenBank/DDBJ databases. RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=16421571; DOI=10.1038/nature04406; RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., RA Platzer M., Shimizu N., Lander E.S.; RT "DNA sequence and analysis of human chromosome 8."; RL Nature 439:331-335(2006). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 763-2729 (ISOFORM 1). RC TISSUE=Brain; RX PubMed=10718198; DOI=10.1093/dnares/7.1.65; RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.; RT "Prediction of the coding sequences of unidentified human genes. XVI. The RT complete sequences of 150 new cDNA clones from brain which code for large RT proteins in vitro."; RL DNA Res. 7:65-73(2000). RN [4] RP SEQUENCE REVISION. RX PubMed=12168954; DOI=10.1093/dnares/9.3.99; RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.; RT "Construction of expression-ready cDNA clones for KIAA genes: manual RT curation of 330 KIAA cDNA clones."; RL DNA Res. 9:99-106(2002). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 853-2997 (ISOFORM 2), AND RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2305-2997 (ISOFORM 1). RC TISSUE=Hepatoma; 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 [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-639 AND 763-2997 (ISOFORM 1). RC TISSUE=Blood, Brain, Eye, Lung, Placenta, and Skin; 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 [7] RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Embryonic kidney; RX PubMed=17525332; DOI=10.1126/science.1140321; RA Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., RA Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., RA Gygi S.P., Elledge S.J.; RT "ATM and ATR substrate analysis reveals extensive protein networks RT responsive to DNA damage."; RL Science 316:1160-1166(2007). RN [8] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2356; SER-2533; THR-2551 AND RP SER-2559, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Cervix carcinoma; RX PubMed=18669648; DOI=10.1073/pnas.0805139105; RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., RA Elledge S.J., Gygi S.P.; RT "A quantitative atlas of mitotic phosphorylation."; RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008). RN [9] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2559, 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 [10] RP INTERACTION WITH CHD8, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS RP CHARGES ARG-2091; ARG-2096 AND ARG-2108, AND CHARACTERIZATION OF VARIANT RP ILE-2102. RX PubMed=20453063; DOI=10.1093/hmg/ddq189; RA Batsukh T., Pieper L., Koszucka A.M., von Velsen N., Hoyer-Fender S., RA Elbracht M., Bergman J.E., Hoefsloot L.H., Pauli S.; RT "CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome."; RL Hum. Mol. Genet. 19:2858-2866(2010). RN [11] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1874; SER-2251; SER-2395; RP THR-2472; SER-2533; THR-2551; SER-2559; SER-2619; SER-2956 AND SER-2961, RP AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Cervix carcinoma; RX PubMed=20068231; DOI=10.1126/scisignal.2000475; RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.; RT "Quantitative phosphoproteomics reveals widespread full phosphorylation RT site occupancy during mitosis."; RL Sci. Signal. 3:RA3-RA3(2010). RN [12] RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=21269460; DOI=10.1186/1752-0509-5-17; RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., RA Bennett K.L., Superti-Furga G., Colinge J.; RT "Initial characterization of the human central proteome."; RL BMC Syst. Biol. 5:17-17(2011). RN [13] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-637; SER-725; SER-1577; RP SER-1581; SER-1874; SER-2231; SER-2233; SER-2237; SER-2251; SER-2272; RP SER-2275; SER-2533; SER-2535; SER-2559; SER-2956 AND SER-2961, AND RP IDENTIFICATION BY 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 [14] RP ALTERNATIVE SPLICING (ISOFORM 3), FUNCTION, SUBCELLULAR LOCATION, AND RP TISSUE SPECIFICITY. RX PubMed=22646239; DOI=10.1111/j.1365-2443.2012.01606.x; RA Kita Y., Nishiyama M., Nakayama K.I.; RT "Identification of CHD7S as a novel splicing variant of CHD7 with functions RT similar and antagonistic to those of the full-length CHD7L."; RL Genes Cells 17:536-547(2012). RN [15] RP INTERACTION WITH FAM124B. RX PubMed=23285124; DOI=10.1371/journal.pone.0052640; RA Batsukh T., Schulz Y., Wolf S., Rabe T.I., Oellerich T., Urlaub H., RA Schaefer I.M., Pauli S.; RT "Identification and characterization of FAM124B as a novel component of a RT CHD7 and CHD8 containing complex."; RL PLoS ONE 7:E52640-E52640(2012). RN [16] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2559 AND SER-2956, AND RP 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 [17] RP METHYLATION [LARGE SCALE ANALYSIS] AT ARG-148, AND IDENTIFICATION BY MASS RP SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Colon carcinoma; RX PubMed=24129315; DOI=10.1074/mcp.o113.027870; RA Guo A., Gu H., Zhou J., Mulhern D., Wang Y., Lee K.A., Yang V., Aguiar M., RA Kornhauser J., Jia X., Ren J., Beausoleil S.A., Silva J.C., Vemulapalli V., RA Bedford M.T., Comb M.J.; RT "Immunoaffinity enrichment and mass spectrometry analysis of protein RT methylation."; RL Mol. Cell. Proteomics 13:372-387(2014). RN [18] RP INTERACTION WITH TLK2. RX PubMed=33323470; DOI=10.1136/jmedgenet-2020-107281; RA Pavinato L., Villamor-Paya M., Sanchiz-Calvo M., Andreoli C., Gay M., RA Vilaseca M., Arauz-Garofalo G., Ciolfi A., Bruselles A., Pippucci T., RA Prota V., Carli D., Giorgio E., Radio F.C., Antona V., Giuffre M., RA Ranguin K., Colson C., De Rubeis S., Dimartino P., Buxbaum J.D., RA Ferrero G.B., Tartaglia M., Martinelli S., Stracker T.H., Brusco A.; RT "Functional analysis of TLK2 variants and their proximal interactomes RT implicates impaired kinase activity and chromatin maintenance defects in RT their pathogenesis."; RL J. Med. Genet. 59:170-179(2022). RN [19] RP VARIANTS CHARGES PRO-1745; ILE-2102 AND CYS-2319, AND VARIANTS LEU-466; RP VAL-511; VAL-522; ALA-527; LYS-2077 AND MET-2112. RX PubMed=16763960; DOI=10.1002/ajmg.a.31308; RA Felix T.M., Hanshaw B.C., Mueller R., Bitoun P., Murray J.C.; RT "CHD7 gene and non-syndromic cleft lip and palate."; RL Am. J. Med. Genet. A 140:2110-2114(2006). RN [20] RP VARIANTS CHARGES CYS-72; PRO-99; GLU-254; SER-439; GLY-699; CYS-840; RP ALA-942; ARG-975; SER-1020; VAL-1028; ARG-1031; SER-1081; ASN-1082; RP ARG-1101; ARG-1214; ARG-1251; PRO-1292; CYS-1317; ARG-1318; HIS-1345; RP ASP-1617; VAL-1619; SER-1684; VAL-1797; HIS-1812; GLY-1812; PRO-1815; RP PRO-2074; ARG-2091; GLY-2097; ILE-2102; ARG-2108; THR-2259; ALA-2286; RP THR-2312; ARG-2366 AND GLU-2464, AND VARIANTS LEU-37; ALA-93; LEU-167; RP LEU-238; GLY-286; PRO-524; ALA-558; LYS-596; SER-744; ASN-812; HIS-944; RP SER-1594; VAL-1672; GLY-1866; GLY-1972; TRP-2062; MET-2112; ASP-2118; RP THR-2225; ALA-2330; SER-2415; ASP-2488; CYS-2491; GLN-2653; VAL-2725; RP LEU-2750; VAL-2780; THR-2789 AND ALA-2857. RX PubMed=22461308; DOI=10.1002/humu.22086; RA Janssen N., Bergman J.E., Swertz M.A., Tranebjaerg L., Lodahl M., RA Schoots J., Hofstra R.M., van Ravenswaaij-Arts C.M., Hoefsloot L.H.; RT "Mutation update on the CHD7 gene involved in CHARGE syndrome."; RL Hum. Mutat. 33:1149-1160(2012). RN [21] RP STRUCTURE BY NMR OF 2561-2715, AND INTERACTION WITH CTCF. RX PubMed=17603073; DOI=10.1016/j.jmb.2007.06.007; RA Allen M.D., Religa T.L., Freund S.M., Bycroft M.; RT "Solution structure of the BRK domains from CHD7."; RL J. Mol. Biol. 371:1135-1140(2007). RN [22] RP VARIANTS CHARGES VAL-1028 AND ARG-1257, AND TISSUE SPECIFICITY. RX PubMed=15300250; DOI=10.1038/ng1407; RA Vissers L.E.L.M., van Ravenswaaij C.M.A., Admiraal R., Hurst J.A., RA de Vries B.B.A., Janssen I.M., van der Vliet W.A., Huys E.H.L.P.G., RA de Jong P.J., Hamel B.C.J., Schoenmakers E.F.P.M., Brunner H.G., RA Veltman J.A., Geurts van Kessel A.; RT "Mutations in a new member of the chromodomain gene family cause CHARGE RT syndrome."; RL Nat. Genet. 36:955-957(2004). RN [23] RP VARIANTS CHARGES GLY-1031; ARG-1214; PRO-1294; PRO-1815; ARG-2096 AND RP SER-2319. RX PubMed=16400610; DOI=10.1086/500273; RA Lalani S.R., Safiullah A.M., Fernbach S.D., Harutyunyan K.G., Thaller C., RA Peterson L.E., McPherson J.D., Gibbs R.A., White L.D., Hefner M., RA Davenport S.L.H., Graham J.M., Bacino C.A., Glass N.L., Towbin J.A., RA Craigen W.J., Neish S.R., Lin A.E., Belmont J.W.; RT "Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and RT genotype-phenotype correlation."; RL Am. J. Hum. Genet. 78:303-314(2006). RN [24] RP INVOLVEMENT IN SUSCEPTIBILITY TO IS3. RX PubMed=17436250; DOI=10.1086/513571; RA Gao X., Gordon D., Zhang D., Browne R., Helms C., Gillum J., Weber S., RA Devroy S., Swaney S., Dobbs M., Morcuende J., Sheffield V., Lovett M., RA Bowcock A., Herring J., Wise C.; RT "CHD7 gene polymorphisms are associated with susceptibility to idiopathic RT scoliosis."; RL Am. J. Hum. Genet. 80:957-965(2007). RN [25] RP VARIANTS HH5 ARG-55; PHE-834; LEU-2880 AND GLU-2948, AND VARIANT THR-2789. RX PubMed=18834967; DOI=10.1016/j.ajhg.2008.09.005; RA Kim H.-G., Kurth I., Lan F., Meliciani I., Wenzel W., Eom S.H., Kang G.B., RA Rosenberger G., Tekin M., Ozata M., Bick D.P., Sherins R.J., Walker S.L., RA Shi Y., Gusella J.F., Layman L.C.; RT "Mutations in CHD7, encoding a chromatin-remodeling protein, cause RT idiopathic hypogonadotropic hypogonadism and Kallmann syndrome."; RL Am. J. Hum. Genet. 83:511-519(2008). RN [26] RP VARIANT CHARGES ARG-2108. RX PubMed=18074359; DOI=10.1002/ajmg.a.31921; RA Jongmans M.C., Hoefsloot L.H., van der Donk K.P., Admiraal R.J., Magee A., RA van de Laar I., Hendriks Y., Verheij J.B., Walpole I., Brunner H.G., RA van Ravenswaaij C.M.; RT "Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, RT intrafamilial recurrence and variability."; RL Am. J. Med. Genet. A 146:43-50(2008). RN [27] RP VARIANTS THR-103 AND ASP-117, AND VARIANTS CHARGES ARG-1214; PRO-1302; RP TRP-1592 AND ASP-1742. RX PubMed=18445044; DOI=10.1111/j.1399-0004.2008.01014.x; RA Wincent J., Holmberg E., Stromland K., Soller M., Mirzaei L., RA Djureinovic T., Robinson K., Anderlid B., Schoumans J.; RT "CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE RT syndrome."; RL Clin. Genet. 74:31-38(2008). RN [28] RP VARIANT CHARGES ASN-2116. RX PubMed=19021638; DOI=10.1111/j.1399-0004.2008.01107.x; RA Jongmans M.C., van Ravenswaaij-Arts C.M., Pitteloud N., Ogata T., Sato N., RA Claahsen-van der Grinten H.L., van der Donk K., Seminara S., Bergman J.E., RA Brunner H.G., Crowley W.F. Jr., Hoefsloot L.H.; RT "CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the RT clinical overlap with CHARGE syndrome."; RL Clin. Genet. 75:65-71(2009). RN [29] RP VARIANTS CHARGES ILE-41; ARG-86; MET-238; ALA-558; THR-699; ASN-728; RP ASP-871; ALA-894; THR-907; MET-917; LYS-938; HIS-944; GLN-947; VAL-1028; RP GLN-1203; ASP-1208; PRO-1294; PRO-1322; CYS-1345; HIS-1395; ARG-1416; RP GLN-1457; CYS-1576; SER-1617; SER-1684; ARG-1739; GLU-1791; GLY-1866; RP THR-1950; HIS-2065; GLY-2084; ASP-2103; ASN-2116; CYS-2319; SER-2495; RP SER-2683; CYS-2702; THR-2733 AND MET-2931, AND VARIANTS THR-103; ARG-201; RP VAL-340; ALA-369; LEU-466; VAL-522; VAL-636; SER-744; THR-2160; THR-2225; RP ALA-2330; LEU-2527; VAL-2806; ALA-2857 AND PHE-2984. RX PubMed=21158681; DOI=10.1089/gtmb.2010.0101; RA Bartels C.F., Scacheri C., White L., Scacheri P.C., Bale S.; RT "Mutations in the CHD7 gene: the experience of a commercial laboratory."; RL Genet. Test. Mol. Biomarkers 14:881-891(2010). RN [30] RP VARIANT CHARGES SER-2065. RX PubMed=21931733; DOI=10.1371/journal.pone.0024511; RA Song M.H., Cho H.J., Lee H.K., Kwon T.J., Lee W.S., Oh S., Bok J., RA Choi J.Y., Kim U.K.; RT "CHD7 mutational analysis and clinical considerations for auditory RT rehabilitation in deaf patients with CHARGE syndrome."; RL PLoS ONE 6:E24511-E24511(2011). RN [31] RP VARIANTS CHARGES SER-1020 AND ASP-1802. RX PubMed=21554267; DOI=10.1111/j.1399-0004.2011.01701.x; RA Pauli S., von Velsen N., Burfeind P., Steckel M., Manz J., Buchholz A., RA Borozdin W., Kohlhase J.; RT "CHD7 mutations causing CHARGE syndrome are predominantly of paternal RT origin."; RL Clin. Genet. 81:234-239(2012). RN [32] RP VARIANTS CHARGES SER-1684 AND GLY-2418, AND VARIANT GLN-2653. RX PubMed=22462537; DOI=10.1111/j.1399-0004.2012.01884.x; RA Husu E., Hove H., Farholt S., Bille M., Tranebjaerg L., Vogel I., RA Kreiborg S.; RT "Phenotype in 18 Danish subjects with genetically verified CHARGE RT syndrome."; RL Clin. Genet. 83:125-134(2013). RN [33] RP VARIANTS HH5 LYS-685 INS; HIS-758; TRP-886; SER-944; SER-1030; GLU-1291; RP CYS-1345; PHE-1375; SER-1684; VAL-1838; GLY-1912; CYS-2065; PRO-2074; RP ARG-2108; THR-2259; GLY-2398 AND PRO-2833, AND VARIANTS SER-744; THR-2160 RP AND LEU-2527. RX PubMed=25077900; DOI=10.1210/jc.2014-2110; RA Marcos S., Sarfati J., Leroy C., Fouveaut C., Parent P., Metz C., RA Wolczynski S., Gerard M., Bieth E., Kurtz F., Verier-Mine O., Perrin L., RA Archambeaud F., Cabrol S., Rodien P., Hove H., Prescott T., Lacombe D., RA Christin-Maitre S., Touraine P., Hieronimus S., Dewailly D., Young J., RA Pugeat M., Hardelin J.P., Dode C.; RT "The prevalence of CHD7 missense versus truncating mutations is higher in RT patients with Kallmann syndrome than in typical CHARGE patients."; RL J. Clin. Endocrinol. Metab. 99:E2138-2143(2014). RN [34] RP VARIANT CHARGES TRP-2108. RX PubMed=25818041; DOI=10.1111/epi.12954; RA Mercimek-Mahmutoglu S., Patel J., Cordeiro D., Hewson S., Callen D., RA Donner E.J., Hahn C.D., Kannu P., Kobayashi J., Minassian B.A., Moharir M., RA Siriwardena K., Weiss S.K., Weksberg R., Snead O.C. III; RT "Diagnostic yield of genetic testing in epileptic encephalopathy in RT childhood."; RL Epilepsia 56:707-716(2015). RN [35] RP VARIANT SER-744. RX PubMed=21995344; DOI=10.1186/1687-9856-2011-11; RA Jain S., Kim H.G., Lacbawan F., Meliciani I., Wenzel W., Kurth I., RA Sharma J., Schoeneman M., Ten S., Layman L.C., Jacobson-Dickman E.; RT "Unique phenotype in a patient with CHARGE syndrome."; RL Int. J. Pediatr. Endocrinol. 2011:11-11(2011). CC -!- FUNCTION: Probable transcription regulator. Maybe involved in the in CC 45S precursor rRNA production. {ECO:0000269|PubMed:22646239}. CC -!- CATALYTIC ACTIVITY: CC Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, CC ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, CC ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12; CC -!- SUBUNIT: May interact with CTCF (PubMed:17603073). Interacts with CHD8 CC (PubMed:20453063). Interacts with FAM124B (PubMed:23285124). Found in a CC complex composed of AGO2, CHD7 and ARB2A (By similarity). Interacts CC with TLK2 (PubMed:33323470). {ECO:0000250|UniProtKB:A2AJK6, CC ECO:0000269|PubMed:17603073, ECO:0000269|PubMed:20453063, CC ECO:0000269|PubMed:23285124, ECO:0000269|PubMed:33323470}. CC -!- INTERACTION: CC Q9P2D1; Q9HCK8-2: CHD8; NbExp=3; IntAct=EBI-3951683, EBI-4410319; CC Q9P2D1; Q86U86: PBRM1; NbExp=4; IntAct=EBI-3951683, EBI-637807; CC Q9P2D1; Q8TAQ2: SMARCC2; NbExp=4; IntAct=EBI-3951683, EBI-357418; CC Q9P2D1-1; Q9H5Z6-1: FAM124B; NbExp=2; IntAct=EBI-30872315, EBI-30872379; CC -!- SUBCELLULAR LOCATION: [Isoform 1]: Nucleus CC {ECO:0000269|PubMed:20453063}. CC -!- SUBCELLULAR LOCATION: [Isoform 3]: Nucleus, nucleolus CC {ECO:0000269|PubMed:22646239}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=4; CC Name=1; Synonyms=CHD7L; CC IsoId=Q9P2D1-1; Sequence=Displayed; CC Name=2; CC IsoId=Q9P2D1-2; Sequence=VSP_026038, VSP_026039; CC Name=3; Synonyms=CHD7S; CC IsoId=Q9P2D1-3; Sequence=VSP_046564, VSP_046565; CC Name=4; CC IsoId=Q9P2D1-4; Sequence=VSP_046563; CC -!- TISSUE SPECIFICITY: Widely expressed in fetal and adult tissues. CC {ECO:0000269|PubMed:15300250, ECO:0000269|PubMed:22646239}. CC -!- DISEASE: CHARGE syndrome (CHARGES) [MIM:214800]: Common cause of CC congenital anomalies. Is characterized by a non-random pattern of CC congenital anomalies including choanal atresia and malformations of the CC heart, inner ear, and retina. {ECO:0000269|PubMed:15300250, CC ECO:0000269|PubMed:16400610, ECO:0000269|PubMed:16763960, CC ECO:0000269|PubMed:18074359, ECO:0000269|PubMed:18445044, CC ECO:0000269|PubMed:19021638, ECO:0000269|PubMed:20453063, CC ECO:0000269|PubMed:21158681, ECO:0000269|PubMed:21554267, CC ECO:0000269|PubMed:21931733, ECO:0000269|PubMed:22461308, CC ECO:0000269|PubMed:22462537, ECO:0000269|PubMed:25818041}. Note=The CC disease is caused by variants affecting the gene represented in this CC entry. CC -!- DISEASE: Idiopathic scoliosis 3 (IS3) [MIM:608765]: An abnormality of CC the vertebral column in which patients develop lateral curvature of the CC spine of at least 10 degrees. {ECO:0000269|PubMed:17436250}. CC Note=Disease susceptibility is associated with variants affecting the CC gene represented in this entry. CC -!- DISEASE: Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) CC [MIM:612370]: A disorder characterized by absent or incomplete sexual CC maturation by the age of 18 years, in conjunction with low levels of CC circulating gonadotropins and testosterone and no other abnormalities CC of the hypothalamic-pituitary axis. In some cases, it is associated CC with non-reproductive phenotypes, such as anosmia, cleft palate, and CC sensorineural hearing loss. Anosmia or hyposmia is related to the CC absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism CC is due to deficiency in gonadotropin-releasing hormone and probably CC results from a failure of embryonic migration of gonadotropin-releasing CC hormone-synthesizing neurons. In the presence of anosmia, idiopathic CC hypogonadotropic hypogonadism is referred to as Kallmann syndrome, CC whereas in the presence of a normal sense of smell, it has been termed CC normosmic idiopathic hypogonadotropic hypogonadism (nIHH). CC {ECO:0000269|PubMed:18834967, ECO:0000269|PubMed:21158681, CC ECO:0000269|PubMed:25077900}. Note=The disease is caused by variants CC affecting the gene represented in this entry. CC -!- MISCELLANEOUS: [Isoform 2]: May be due to an intron retention. CC {ECO:0000305}. CC -!- MISCELLANEOUS: [Isoform 3]: Ubiquitous, expression enriched in lung and CC large intestine. {ECO:0000305}. CC -!- SIMILARITY: Belongs to the SNF2/RAD54 helicase family. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=AAH14681.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; CC Sequence=AAH14681.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence.; Evidence={ECO:0000305}; CC Sequence=AAH53890.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; CC Sequence=AAH68000.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; CC Sequence=AAH80627.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; CC Sequence=AAH80627.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence.; Evidence={ECO:0000305}; CC Sequence=AAI10819.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence.; Evidence={ECO:0000305}; CC Sequence=BAA91113.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; CC Sequence=BAA91116.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; CC -!- WEB RESOURCE: Name=CHD7 database; CC URL="https://molgenis51.target.rug.nl/"; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; GU060498; ACY35999.1; -; mRNA. DR EMBL; AC023102; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC113143; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AB037837; BAA92654.1; -; mRNA. DR EMBL; AK000364; BAA91113.1; ALT_INIT; mRNA. DR EMBL; AK000368; BAA91116.1; ALT_INIT; mRNA. DR EMBL; BC014681; AAH14681.1; ALT_SEQ; mRNA. DR EMBL; BC051264; AAH51264.1; -; mRNA. DR EMBL; BC053890; AAH53890.1; ALT_INIT; mRNA. DR EMBL; BC068000; AAH68000.1; ALT_INIT; mRNA. DR EMBL; BC080627; AAH80627.1; ALT_SEQ; mRNA. DR EMBL; BC110818; AAI10819.1; ALT_SEQ; mRNA. DR CCDS; CCDS47865.1; -. [Q9P2D1-1] DR CCDS; CCDS83299.1; -. [Q9P2D1-4] DR RefSeq; NP_001303619.1; NM_001316690.1. [Q9P2D1-4] DR RefSeq; NP_060250.2; NM_017780.3. [Q9P2D1-1] DR PDB; 2CKC; NMR; -; A=2563-2622. DR PDB; 2V0E; NMR; -; A=2561-2614. DR PDB; 2V0F; NMR; -; A=2631-2715. DR PDBsum; 2CKC; -. DR PDBsum; 2V0E; -. DR PDBsum; 2V0F; -. DR SMR; Q9P2D1; -. DR BioGRID; 120775; 126. DR DIP; DIP-48685N; -. DR IntAct; Q9P2D1; 68. DR MINT; Q9P2D1; -. DR STRING; 9606.ENSP00000392028; -. DR GlyCosmos; Q9P2D1; 1 site, 1 glycan. DR GlyGen; Q9P2D1; 2 sites, 1 O-linked glycan (2 sites). DR iPTMnet; Q9P2D1; -. DR MetOSite; Q9P2D1; -. DR PhosphoSitePlus; Q9P2D1; -. DR SwissPalm; Q9P2D1; -. DR BioMuta; CHD7; -. DR DMDM; 148877246; -. DR EPD; Q9P2D1; -. DR jPOST; Q9P2D1; -. DR MassIVE; Q9P2D1; -. DR MaxQB; Q9P2D1; -. DR PaxDb; 9606-ENSP00000392028; -. DR PeptideAtlas; Q9P2D1; -. DR ProteomicsDB; 22566; -. DR ProteomicsDB; 83773; -. [Q9P2D1-1] DR ProteomicsDB; 83774; -. [Q9P2D1-2] DR Pumba; Q9P2D1; -. DR ABCD; Q9P2D1; 1 sequenced antibody. DR Antibodypedia; 24678; 179 antibodies from 30 providers. DR DNASU; 55636; -. DR Ensembl; ENST00000423902.7; ENSP00000392028.1; ENSG00000171316.14. [Q9P2D1-1] DR Ensembl; ENST00000524602.5; ENSP00000437061.1; ENSG00000171316.14. [Q9P2D1-4] DR Ensembl; ENST00000525508.1; ENSP00000436027.1; ENSG00000171316.14. [Q9P2D1-2] DR GeneID; 55636; -. DR KEGG; hsa:55636; -. DR MANE-Select; ENST00000423902.7; ENSP00000392028.1; NM_017780.4; NP_060250.2. DR UCSC; uc003xue.4; human. [Q9P2D1-1] DR AGR; HGNC:20626; -. DR CTD; 55636; -. DR DisGeNET; 55636; -. DR GeneCards; CHD7; -. DR GeneReviews; CHD7; -. DR HGNC; HGNC:20626; CHD7. DR HPA; ENSG00000171316; Tissue enhanced (brain). DR MalaCards; CHD7; -. DR MIM; 214800; phenotype. DR MIM; 608765; phenotype. DR MIM; 608892; gene. DR MIM; 612370; phenotype. DR neXtProt; NX_Q9P2D1; -. DR OpenTargets; ENSG00000171316; -. DR Orphanet; 138; CHARGE syndrome. DR Orphanet; 478; Kallmann syndrome. DR Orphanet; 432; Normosmic congenital hypogonadotropic hypogonadism. DR Orphanet; 39041; Omenn syndrome. DR PharmGKB; PA134948695; -. DR VEuPathDB; HostDB:ENSG00000171316; -. DR eggNOG; KOG0384; Eukaryota. DR GeneTree; ENSGT00940000153649; -. DR HOGENOM; CLU_000315_5_0_1; -. DR InParanoid; Q9P2D1; -. DR OMA; AFVAMCK; -. DR OrthoDB; 22878at2759; -. DR PhylomeDB; Q9P2D1; -. DR TreeFam; TF313572; -. DR PathwayCommons; Q9P2D1; -. DR SignaLink; Q9P2D1; -. DR SIGNOR; Q9P2D1; -. DR BioGRID-ORCS; 55636; 44 hits in 1192 CRISPR screens. DR ChiTaRS; CHD7; human. DR EvolutionaryTrace; Q9P2D1; -. DR GeneWiki; CHD7; -. DR GenomeRNAi; 55636; -. DR Pharos; Q9P2D1; Tbio. DR PRO; PR:Q9P2D1; -. DR Proteomes; UP000005640; Chromosome 8. DR RNAct; Q9P2D1; Protein. DR Bgee; ENSG00000171316; Expressed in secondary oocyte and 197 other cell types or tissues. DR ExpressionAtlas; Q9P2D1; baseline and differential. DR GO; GO:0000785; C:chromatin; IBA:GO_Central. DR GO; GO:0005730; C:nucleolus; IDA:HPA. DR GO; GO:0005654; C:nucleoplasm; IDA:HPA. DR GO; GO:0005634; C:nucleus; IDA:UniProtKB. DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW. DR GO; GO:0016887; F:ATP hydrolysis activity; IBA:GO_Central. DR GO; GO:0140658; F:ATP-dependent chromatin remodeler activity; IBA:GO_Central. DR GO; GO:0003682; F:chromatin binding; IBA:GO_Central. DR GO; GO:0003677; F:DNA binding; IBA:GO_Central. DR GO; GO:0004386; F:helicase activity; IEA:UniProtKB-KW. DR GO; GO:0042393; F:histone binding; IBA:GO_Central. DR GO; GO:1990841; F:promoter-specific chromatin binding; IEA:Ensembl. DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IEA:Ensembl. DR GO; GO:0007512; P:adult heart development; IEA:Ensembl. DR GO; GO:0007628; P:adult walking behavior; IEA:Ensembl. DR GO; GO:0035909; P:aorta morphogenesis; IEA:Ensembl. DR GO; GO:0036302; P:atrioventricular canal development; IEA:Ensembl. DR GO; GO:0008015; P:blood circulation; IEA:Ensembl. DR GO; GO:0001974; P:blood vessel remodeling; IEA:Ensembl. DR GO; GO:0060411; P:cardiac septum morphogenesis; IEA:Ensembl. DR GO; GO:0007417; P:central nervous system development; IMP:BHF-UCL. DR GO; GO:0043009; P:chordate embryonic development; IBA:GO_Central. DR GO; GO:0006338; P:chromatin remodeling; IBA:GO_Central. DR GO; GO:0050890; P:cognition; IMP:BHF-UCL. DR GO; GO:0021545; P:cranial nerve development; IMP:BHF-UCL. DR GO; GO:0035116; P:embryonic hindlimb morphogenesis; IEA:Ensembl. DR GO; GO:0060429; P:epithelium development; IEA:Ensembl. DR GO; GO:0060324; P:face development; IMP:BHF-UCL. DR GO; GO:0030540; P:female genitalia development; IEA:Ensembl. DR GO; GO:0048806; P:genitalia development; IMP:BHF-UCL. DR GO; GO:0003007; P:heart morphogenesis; IMP:BHF-UCL. DR GO; GO:0001701; P:in utero embryonic development; IMP:BHF-UCL. DR GO; GO:0042472; P:inner ear morphogenesis; IMP:BHF-UCL. DR GO; GO:0060384; P:innervation; IEA:Ensembl. DR GO; GO:0060173; P:limb development; IMP:BHF-UCL. DR GO; GO:0043584; P:nose development; IMP:BHF-UCL. DR GO; GO:0042048; P:olfactory behavior; IEA:Ensembl. DR GO; GO:0021772; P:olfactory bulb development; IEA:Ensembl. DR GO; GO:0021553; P:olfactory nerve development; IEA:Ensembl. DR GO; GO:0040018; P:positive regulation of multicellular organism growth; IEA:Ensembl. DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IEA:Ensembl. DR GO; GO:0006355; P:regulation of DNA-templated transcription; NAS:BHF-UCL. DR GO; GO:0010468; P:regulation of gene expression; IBA:GO_Central. DR GO; GO:0060123; P:regulation of growth hormone secretion; IMP:BHF-UCL. DR GO; GO:0050767; P:regulation of neurogenesis; IEA:Ensembl. DR GO; GO:0010880; P:regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; IEA:Ensembl. DR GO; GO:0009617; P:response to bacterium; IEA:Ensembl. DR GO; GO:0060041; P:retina development in camera-type eye; IMP:BHF-UCL. DR GO; GO:0003226; P:right ventricular compact myocardium morphogenesis; IEA:Ensembl. DR GO; GO:0006364; P:rRNA processing; IEA:UniProtKB-KW. DR GO; GO:0062009; P:secondary palate development; IMP:BHF-UCL. DR GO; GO:0048752; P:semicircular canal morphogenesis; IEA:Ensembl. DR GO; GO:0007605; P:sensory perception of sound; IEA:Ensembl. DR GO; GO:0001501; P:skeletal system development; IMP:BHF-UCL. DR GO; GO:0030217; P:T cell differentiation; IMP:BHF-UCL. DR GO; GO:0006366; P:transcription by RNA polymerase II; IEA:Ensembl. DR GO; GO:0003222; P:ventricular trabecula myocardium morphogenesis; IEA:Ensembl. DR CDD; cd18668; CD1_tandem_CHD5-9_like; 1. DR CDD; cd18663; CD2_tandem_CHD5-9_like; 1. DR CDD; cd18793; SF2_C_SNF; 1. DR Gene3D; 2.40.50.40; -; 2. DR Gene3D; 3.40.5.120; -; 2. DR Gene3D; 1.10.10.60; Homeodomain-like; 2. DR Gene3D; 3.40.50.300; P-loop containing nucleotide triphosphate hydrolases; 1. DR Gene3D; 3.40.50.10810; Tandem AAA-ATPase domain; 1. DR InterPro; IPR006576; BRK_domain. DR InterPro; IPR037259; BRK_sf. DR InterPro; IPR016197; Chromo-like_dom_sf. DR InterPro; IPR000953; Chromo/chromo_shadow_dom. DR InterPro; IPR023780; Chromo_domain. DR InterPro; IPR014001; Helicase_ATP-bd. DR InterPro; IPR001650; Helicase_C. DR InterPro; IPR027417; P-loop_NTPase. DR InterPro; IPR038718; SNF2-like_sf. DR InterPro; IPR049730; SNF2/RAD54-like_C. DR InterPro; IPR000330; SNF2_N. DR PANTHER; PTHR46850; CHROMODOMAIN-HELICASE-DNA-BINDING PROTEIN 9; 1. DR PANTHER; PTHR46850:SF3; DNA HELICASE; 1. DR Pfam; PF07533; BRK; 2. DR Pfam; PF00385; Chromo; 2. DR Pfam; PF00271; Helicase_C; 1. DR Pfam; PF00176; SNF2-rel_dom; 1. DR SMART; SM00592; BRK; 2. DR SMART; SM00298; CHROMO; 2. DR SMART; SM00487; DEXDc; 1. DR SMART; SM00490; HELICc; 1. DR SUPFAM; SSF160481; BRK domain-like; 2. DR SUPFAM; SSF54160; Chromo domain-like; 2. DR SUPFAM; SSF52540; P-loop containing nucleoside triphosphate hydrolases; 2. DR PROSITE; PS50013; CHROMO_2; 2. DR PROSITE; PS51192; HELICASE_ATP_BIND_1; 1. DR PROSITE; PS51194; HELICASE_CTER; 1. DR Genevisible; Q9P2D1; HS. PE 1: Evidence at protein level; KW 3D-structure; Alternative splicing; ATP-binding; Chromatin regulator; KW Coiled coil; Disease variant; DNA-binding; Helicase; Hydrolase; KW Hypogonadotropic hypogonadism; Kallmann syndrome; Methylation; KW Nucleotide-binding; Nucleus; Phosphoprotein; Reference proteome; Repeat; KW rRNA processing; Transcription; Transcription regulation. FT CHAIN 1..2997 FT /note="Chromodomain-helicase-DNA-binding protein 7" FT /id="PRO_0000080232" FT DOMAIN 800..867 FT /note="Chromo 1" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00053" FT DOMAIN 882..947 FT /note="Chromo 2" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00053" FT DOMAIN 980..1154 FT /note="Helicase ATP-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00541" FT DOMAIN 1294..1464 FT /note="Helicase C-terminal" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00542" FT REGION 86..144 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 160..186 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 199..287 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 375..419 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 498..816 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 938..959 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 1576..1600 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 1837..1863 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 2170..2290 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 2823..2873 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 2935..2997 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COILED 2401..2431 FT /evidence="ECO:0000255" FT MOTIF 1105..1108 FT /note="DEAH box" FT COMPBIAS 86..106 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 163..179 FT /note="Pro residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 199..261 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 388..416 FT /note="Pro residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 512..526 FT /note="Pro residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 539..554 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 651..689 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 697..725 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 733..765 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 780..795 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 1576..1599 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 2170..2215 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 2275..2289 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 2823..2837 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 2838..2862 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 2936..2970 FT /note="Basic and acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 2973..2997 FT /note="Acidic residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT BINDING 993..1000 FT /ligand="ATP" FT /ligand_id="ChEBI:CHEBI:30616" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00541" FT MOD_RES 148 FT /note="Omega-N-methylarginine" FT /evidence="ECO:0007744|PubMed:24129315" FT MOD_RES 286 FT /note="Asymmetric dimethylarginine" FT /evidence="ECO:0000250|UniProtKB:A2AJK6" FT MOD_RES 637 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:21406692" FT MOD_RES 725 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:21406692" FT MOD_RES 1577 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:21406692" FT MOD_RES 1581 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:21406692" FT MOD_RES 1874 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:20068231, FT ECO:0007744|PubMed:21406692" FT MOD_RES 2231 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:21406692" FT MOD_RES 2233 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:21406692" FT MOD_RES 2237 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:21406692" FT MOD_RES 2251 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:20068231, FT ECO:0007744|PubMed:21406692" FT MOD_RES 2272 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:21406692" FT MOD_RES 2275 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:21406692" FT MOD_RES 2356 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:18669648" FT MOD_RES 2395 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:20068231" FT MOD_RES 2472 FT /note="Phosphothreonine" FT /evidence="ECO:0007744|PubMed:20068231" FT MOD_RES 2533 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:18669648, FT ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692" FT MOD_RES 2535 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:21406692" FT MOD_RES 2551 FT /note="Phosphothreonine" FT /evidence="ECO:0007744|PubMed:18669648, FT ECO:0007744|PubMed:20068231" FT MOD_RES 2559 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:18669648, FT ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231, FT ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163" FT MOD_RES 2619 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:20068231" FT MOD_RES 2956 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:20068231, FT ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163" FT MOD_RES 2961 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:20068231, FT ECO:0007744|PubMed:21406692" FT VAR_SEQ 572..2620 FT /note="Missing (in isoform 4)" FT /evidence="ECO:0000303|Ref.1" FT /id="VSP_046563" FT VAR_SEQ 833 FT /note="F -> L (in isoform 3)" FT /evidence="ECO:0000305" FT /id="VSP_046564" FT VAR_SEQ 834..2620 FT /note="Missing (in isoform 3)" FT /evidence="ECO:0000305" FT /id="VSP_046565" FT VAR_SEQ 1127..1138 FT /note="EHKVLLTGTPLQ -> VSDHIGDCTEPE (in isoform 2)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_026038" FT VAR_SEQ 1139..2997 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_026039" FT VARIANT 37 FT /note="M -> L (in dbSNP:rs1416709395)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068374" FT VARIANT 41 FT /note="M -> I (in CHARGES; uncertain significance; FT dbSNP:rs756851968)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068104" FT VARIANT 55 FT /note="H -> R (in HH5; phenotype consistent with Kallmann FT syndrome; dbSNP:rs121434345)" FT /evidence="ECO:0000269|PubMed:18834967" FT /id="VAR_054623" FT VARIANT 72 FT /note="Y -> C (in CHARGES; uncertain significance; FT dbSNP:rs767819417)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068375" FT VARIANT 86 FT /note="P -> R (in CHARGES; uncertain significance; FT dbSNP:rs1355349547)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068105" FT VARIANT 93 FT /note="T -> A (in dbSNP:rs398124317)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068376" FT VARIANT 99 FT /note="A -> P (in CHARGES; uncertain significance; FT dbSNP:rs779024959)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068377" FT VARIANT 103 FT /note="S -> T (in dbSNP:rs41272435)" FT /evidence="ECO:0000269|PubMed:18445044, FT ECO:0000269|PubMed:21158681" FT /id="VAR_068106" FT VARIANT 117 FT /note="G -> D (in dbSNP:rs372110761)" FT /evidence="ECO:0000269|PubMed:18445044" FT /id="VAR_072954" FT VARIANT 167 FT /note="P -> L (in dbSNP:rs61742851)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068378" FT VARIANT 201 FT /note="Q -> R (in dbSNP:rs764496155)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068107" FT VARIANT 238 FT /note="V -> L (in dbSNP:rs200898742)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068379" FT VARIANT 238 FT /note="V -> M (in CHARGES; uncertain significance; FT dbSNP:rs200898742)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068108" FT VARIANT 254 FT /note="Q -> E (in CHARGES; uncertain significance; FT dbSNP:rs1554581354)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068380" FT VARIANT 286 FT /note="R -> G (in dbSNP:rs61995713)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068381" FT VARIANT 340 FT /note="M -> V (in dbSNP:rs41305525)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_048731" FT VARIANT 369 FT /note="P -> A (in dbSNP:rs766747354)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068109" FT VARIANT 439 FT /note="P -> S (in CHARGES; uncertain significance; FT dbSNP:rs772369092)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068382" FT VARIANT 466 FT /note="S -> L (in dbSNP:rs71640285)" FT /evidence="ECO:0000269|PubMed:16763960, FT ECO:0000269|PubMed:21158681" FT /id="VAR_068110" FT VARIANT 511 FT /note="L -> V" FT /evidence="ECO:0000269|PubMed:16763960" FT /id="VAR_069032" FT VARIANT 522 FT /note="G -> V (in dbSNP:rs142962579)" FT /evidence="ECO:0000269|PubMed:16763960, FT ECO:0000269|PubMed:21158681" FT /id="VAR_068111" FT VARIANT 524 FT /note="H -> P (in dbSNP:rs78962949)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068383" FT VARIANT 527 FT /note="S -> A" FT /evidence="ECO:0000269|PubMed:16763960" FT /id="VAR_069033" FT VARIANT 558 FT /note="P -> A (in CHARGES; uncertain significance; FT dbSNP:rs746837682)" FT /evidence="ECO:0000269|PubMed:21158681, FT ECO:0000269|PubMed:22461308" FT /id="VAR_068112" FT VARIANT 596 FT /note="Q -> K" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068384" FT VARIANT 636 FT /note="G -> V (in dbSNP:rs529321177)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068113" FT VARIANT 685 FT /note="A -> AK (in HH5)" FT /evidence="ECO:0000269|PubMed:25077900" FT /id="VAR_072955" FT VARIANT 699 FT /note="S -> G (in CHARGES; uncertain significance)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068385" FT VARIANT 699 FT /note="S -> T (in CHARGES; uncertain significance)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068114" FT VARIANT 728 FT /note="D -> N (in CHARGES; uncertain significance; FT dbSNP:rs756365280)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068115" FT VARIANT 744 FT /note="G -> S (in dbSNP:rs141947938)" FT /evidence="ECO:0000269|PubMed:21158681, FT ECO:0000269|PubMed:21995344, ECO:0000269|PubMed:22461308, FT ECO:0000269|PubMed:25077900" FT /id="VAR_068116" FT VARIANT 758 FT /note="R -> H (in HH5; dbSNP:rs202208393)" FT /evidence="ECO:0000269|PubMed:25077900" FT /id="VAR_072956" FT VARIANT 812 FT /note="K -> N (in dbSNP:rs61978638)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068386" FT VARIANT 834 FT /note="S -> F (in HH5; phenotype consistent with normosmic FT idiopathic hypogonadotropic hypogonadism; FT dbSNP:rs121434344)" FT /evidence="ECO:0000269|PubMed:18834967" FT /id="VAR_054624" FT VARIANT 840 FT /note="W -> C (in CHARGES)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068387" FT VARIANT 871 FT /note="E -> D (in CHARGES)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068117" FT VARIANT 886 FT /note="R -> W (in HH5; dbSNP:rs772260091)" FT /evidence="ECO:0000269|PubMed:25077900" FT /id="VAR_072957" FT VARIANT 894 FT /note="T -> A (in CHARGES; uncertain significance; FT dbSNP:rs377662366)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068118" FT VARIANT 907 FT /note="K -> T (in CHARGES; uncertain significance)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068119" FT VARIANT 917 FT /note="T -> M (in CHARGES; uncertain significance; FT dbSNP:rs1165711448)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068120" FT VARIANT 938 FT /note="R -> K (in CHARGES; uncertain significance; FT dbSNP:rs763978472)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068121" FT VARIANT 942 FT /note="T -> A (in CHARGES; uncertain significance; FT dbSNP:rs370194460)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068388" FT VARIANT 944 FT /note="R -> H (in CHARGES; uncertain significance; FT dbSNP:rs117506164)" FT /evidence="ECO:0000269|PubMed:21158681, FT ECO:0000269|PubMed:22461308" FT /id="VAR_068122" FT VARIANT 944 FT /note="R -> S (in HH5; dbSNP:rs587783435)" FT /evidence="ECO:0000269|PubMed:25077900" FT /id="VAR_072958" FT VARIANT 947 FT /note="R -> Q (in CHARGES; uncertain significance; FT dbSNP:rs768481542)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068123" FT VARIANT 975 FT /note="G -> R (in CHARGES; uncertain significance)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068389" FT VARIANT 1020 FT /note="L -> S (in CHARGES; dbSNP:rs1057521077)" FT /evidence="ECO:0000269|PubMed:21554267, FT ECO:0000269|PubMed:22461308" FT /id="VAR_068124" FT VARIANT 1028 FT /note="I -> V (in CHARGES; dbSNP:rs121434338)" FT /evidence="ECO:0000269|PubMed:15300250, FT ECO:0000269|PubMed:21158681, ECO:0000269|PubMed:22461308" FT /id="VAR_021059" FT VARIANT 1030 FT /note="N -> S (in HH5; dbSNP:rs886041167)" FT /evidence="ECO:0000269|PubMed:25077900" FT /id="VAR_072959" FT VARIANT 1031 FT /note="W -> G (in CHARGES; dbSNP:rs1804098617)" FT /evidence="ECO:0000269|PubMed:16400610" FT /id="VAR_033245" FT VARIANT 1031 FT /note="W -> R (in CHARGES)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068390" FT VARIANT 1081 FT /note="I -> S (in CHARGES; uncertain significance)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068391" FT VARIANT 1082 FT /note="T -> N (in CHARGES)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068392" FT VARIANT 1101 FT /note="C -> R (in CHARGES; dbSNP:rs1586393556)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068393" FT VARIANT 1203 FT /note="E -> Q (in CHARGES; uncertain significance)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068125" FT VARIANT 1208 FT /note="V -> D (in CHARGES; uncertain significance; FT dbSNP:rs886040988)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068126" FT VARIANT 1214 FT /note="Q -> R (in CHARGES)" FT /evidence="ECO:0000269|PubMed:16400610, FT ECO:0000269|PubMed:18445044, ECO:0000269|PubMed:22461308" FT /id="VAR_033246" FT VARIANT 1251 FT /note="C -> R (in CHARGES; uncertain significance)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068394" FT VARIANT 1257 FT /note="L -> R (in CHARGES; dbSNP:rs121434339)" FT /evidence="ECO:0000269|PubMed:15300250" FT /id="VAR_021060" FT VARIANT 1291 FT /note="K -> E (in HH5)" FT /evidence="ECO:0000269|PubMed:25077900" FT /id="VAR_072960" FT VARIANT 1292 FT /note="L -> P (in CHARGES)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068395" FT VARIANT 1294 FT /note="L -> P (in CHARGES; dbSNP:rs864309609)" FT /evidence="ECO:0000269|PubMed:16400610, FT ECO:0000269|PubMed:21158681" FT /id="VAR_033247" FT VARIANT 1302 FT /note="L -> P (in CHARGES; dbSNP:rs1563643394)" FT /evidence="ECO:0000269|PubMed:18445044" FT /id="VAR_072961" FT VARIANT 1317 FT /note="R -> C (in CHARGES; uncertain significance; FT dbSNP:rs373301291)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068396" FT VARIANT 1318 FT /note="C -> R (in CHARGES)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068397" FT VARIANT 1322 FT /note="L -> P (in CHARGES; uncertain significance)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068127" FT VARIANT 1345 FT /note="R -> C (in CHARGES and HH5; uncertain significance; FT dbSNP:rs1563644113)" FT /evidence="ECO:0000269|PubMed:21158681, FT ECO:0000269|PubMed:25077900" FT /id="VAR_068128" FT VARIANT 1345 FT /note="R -> H (in CHARGES)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068398" FT VARIANT 1375 FT /note="L -> F (in HH5)" FT /evidence="ECO:0000269|PubMed:25077900" FT /id="VAR_072962" FT VARIANT 1395 FT /note="Q -> H (in CHARGES)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068129" FT VARIANT 1416 FT /note="T -> R (in CHARGES; uncertain significance; FT dbSNP:rs770166812)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068130" FT VARIANT 1457 FT /note="K -> Q (in CHARGES; uncertain significance)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068131" FT VARIANT 1576 FT /note="F -> C (in CHARGES; uncertain significance)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068132" FT VARIANT 1592 FT /note="R -> W (in CHARGES; uncertain significance; FT dbSNP:rs773187713)" FT /evidence="ECO:0000269|PubMed:18445044" FT /id="VAR_072963" FT VARIANT 1594 FT /note="P -> S" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068399" FT VARIANT 1617 FT /note="G -> D (in CHARGES; uncertain significance)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068400" FT VARIANT 1617 FT /note="G -> S (in CHARGES; uncertain significance; FT dbSNP:rs886040993)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068133" FT VARIANT 1619 FT /note="G -> V (in CHARGES; uncertain significance)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068401" FT VARIANT 1672 FT /note="A -> V (in dbSNP:rs61737194)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068402" FT VARIANT 1684 FT /note="G -> S (in CHARGES and HH5; dbSNP:rs1554602465)" FT /evidence="ECO:0000269|PubMed:21158681, FT ECO:0000269|PubMed:22461308, ECO:0000269|PubMed:22462537, FT ECO:0000269|PubMed:25077900" FT /id="VAR_068134" FT VARIANT 1739 FT /note="L -> R (in CHARGES)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068135" FT VARIANT 1742 FT /note="V -> D (in CHARGES)" FT /evidence="ECO:0000269|PubMed:18445044" FT /id="VAR_072964" FT VARIANT 1745 FT /note="L -> P (in CHARGES; uncertain significance)" FT /evidence="ECO:0000269|PubMed:16763960" FT /id="VAR_069034" FT VARIANT 1791 FT /note="D -> E (in CHARGES; uncertain significance)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068136" FT VARIANT 1797 FT /note="G -> V (in CHARGES)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068403" FT VARIANT 1802 FT /note="G -> D (in CHARGES)" FT /evidence="ECO:0000269|PubMed:21554267" FT /id="VAR_068137" FT VARIANT 1812 FT /note="D -> G (in CHARGES)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068404" FT VARIANT 1812 FT /note="D -> H (in CHARGES)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068405" FT VARIANT 1815 FT /note="L -> P (in CHARGES)" FT /evidence="ECO:0000269|PubMed:16400610, FT ECO:0000269|PubMed:22461308" FT /id="VAR_033248" FT VARIANT 1838 FT /note="M -> V (in HH5; dbSNP:rs759918327)" FT /evidence="ECO:0000269|PubMed:25077900" FT /id="VAR_072965" FT VARIANT 1866 FT /note="D -> G (in CHARGES; uncertain significance)" FT /evidence="ECO:0000269|PubMed:21158681, FT ECO:0000269|PubMed:22461308" FT /id="VAR_068138" FT VARIANT 1912 FT /note="R -> G (in HH5)" FT /evidence="ECO:0000269|PubMed:25077900" FT /id="VAR_072966" FT VARIANT 1950 FT /note="A -> T (in CHARGES; uncertain significance; FT dbSNP:rs201423234)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068139" FT VARIANT 1972 FT /note="A -> G (in dbSNP:rs1013310877)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068406" FT VARIANT 2062 FT /note="R -> W (in dbSNP:rs886063038)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068407" FT VARIANT 2065 FT /note="R -> C (in HH5)" FT /evidence="ECO:0000269|PubMed:25077900" FT /id="VAR_072967" FT VARIANT 2065 FT /note="R -> H (in CHARGES; uncertain significance; FT dbSNP:rs1197494895)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068140" FT VARIANT 2065 FT /note="R -> S (in CHARGES)" FT /evidence="ECO:0000269|PubMed:21931733" FT /id="VAR_068141" FT VARIANT 2074 FT /note="L -> P (in CHARGES and HH5; uncertain significance)" FT /evidence="ECO:0000269|PubMed:22461308, FT ECO:0000269|PubMed:25077900" FT /id="VAR_068408" FT VARIANT 2077 FT /note="R -> K (found in a patient with cleft lip and FT palate; uncertain significance)" FT /evidence="ECO:0000269|PubMed:16763960" FT /id="VAR_069035" FT VARIANT 2084 FT /note="S -> G (in CHARGES; uncertain significance; FT dbSNP:rs201083157)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068142" FT VARIANT 2091 FT /note="W -> R (in CHARGES; no effect on interaction with FT CHD8)" FT /evidence="ECO:0000269|PubMed:20453063, FT ECO:0000269|PubMed:22461308" FT /id="VAR_068409" FT VARIANT 2096 FT /note="H -> R (in CHARGES; no effect on interaction with FT CHD8; dbSNP:rs587783451)" FT /evidence="ECO:0000269|PubMed:16400610, FT ECO:0000269|PubMed:20453063" FT /id="VAR_033249" FT VARIANT 2097 FT /note="D -> G (in CHARGES; uncertain significance)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068410" FT VARIANT 2102 FT /note="V -> I (in CHARGES; uncertain significance; has no FT effect on interaction with CHD8)" FT /evidence="ECO:0000269|PubMed:16763960, FT ECO:0000269|PubMed:20453063, ECO:0000269|PubMed:22461308" FT /id="VAR_068411" FT VARIANT 2103 FT /note="G -> D (in CHARGES; uncertain significance; FT dbSNP:rs794727555)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068143" FT VARIANT 2108 FT /note="G -> R (in CHARGES and HH5; has no effect on FT interaction with CHD8; dbSNP:rs121434343)" FT /evidence="ECO:0000269|PubMed:18074359, FT ECO:0000269|PubMed:20453063, ECO:0000269|PubMed:22461308, FT ECO:0000269|PubMed:25077900" FT /id="VAR_068144" FT VARIANT 2108 FT /note="G -> W (in CHARGES)" FT /evidence="ECO:0000269|PubMed:25818041" FT /id="VAR_078703" FT VARIANT 2112 FT /note="T -> M (found in a patient with cleft lip and FT palate; uncertain significance; dbSNP:rs758409717)" FT /evidence="ECO:0000269|PubMed:16763960, FT ECO:0000269|PubMed:22461308" FT /id="VAR_068412" FT VARIANT 2116 FT /note="I -> N (in CHARGES)" FT /evidence="ECO:0000269|PubMed:19021638, FT ECO:0000269|PubMed:21158681" FT /id="VAR_068145" FT VARIANT 2118 FT /note="N -> D" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068413" FT VARIANT 2160 FT /note="A -> T (in dbSNP:rs61753399)" FT /evidence="ECO:0000269|PubMed:21158681, FT ECO:0000269|PubMed:25077900" FT /id="VAR_068146" FT VARIANT 2225 FT /note="A -> T (in dbSNP:rs374408098)" FT /evidence="ECO:0000269|PubMed:21158681, FT ECO:0000269|PubMed:22461308" FT /id="VAR_068147" FT VARIANT 2259 FT /note="A -> T (in CHARGES and HH5; uncertain significance; FT dbSNP:rs200806228)" FT /evidence="ECO:0000269|PubMed:22461308, FT ECO:0000269|PubMed:25077900" FT /id="VAR_068414" FT VARIANT 2286 FT /note="G -> A (in CHARGES)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068415" FT VARIANT 2312 FT /note="K -> T (in CHARGES; uncertain significance)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068416" FT VARIANT 2319 FT /note="R -> C (in CHARGES; uncertain significance; FT dbSNP:rs121434341)" FT /evidence="ECO:0000269|PubMed:16763960, FT ECO:0000269|PubMed:21158681" FT /id="VAR_068148" FT VARIANT 2319 FT /note="R -> S (in CHARGES; dbSNP:rs121434341)" FT /evidence="ECO:0000269|PubMed:16400610" FT /id="VAR_033250" FT VARIANT 2330 FT /note="G -> A (in dbSNP:rs77704609)" FT /evidence="ECO:0000269|PubMed:21158681, FT ECO:0000269|PubMed:22461308" FT /id="VAR_068149" FT VARIANT 2366 FT /note="L -> R (in CHARGES; uncertain significance; FT dbSNP:rs541818422)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068417" FT VARIANT 2398 FT /note="R -> G (in HH5)" FT /evidence="ECO:0000269|PubMed:25077900" FT /id="VAR_072968" FT VARIANT 2415 FT /note="A -> S (in dbSNP:rs41315633)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068418" FT VARIANT 2418 FT /note="R -> G (in CHARGES)" FT /evidence="ECO:0000269|PubMed:22462537" FT /id="VAR_068150" FT VARIANT 2464 FT /note="K -> E (in CHARGES; uncertain significance)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068419" FT VARIANT 2488 FT /note="G -> D (in dbSNP:rs398124324)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068420" FT VARIANT 2491 FT /note="R -> C (in dbSNP:rs755492299)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068421" FT VARIANT 2495 FT /note="R -> S (in CHARGES; uncertain significance; FT dbSNP:rs547209998)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068151" FT VARIANT 2527 FT /note="M -> L (in dbSNP:rs192129249)" FT /evidence="ECO:0000269|PubMed:21158681, FT ECO:0000269|PubMed:25077900" FT /id="VAR_068152" FT VARIANT 2653 FT /note="R -> Q (in dbSNP:rs747082615)" FT /evidence="ECO:0000269|PubMed:22461308, FT ECO:0000269|PubMed:22462537" FT /id="VAR_068153" FT VARIANT 2683 FT /note="P -> S (in CHARGES; uncertain significance; FT dbSNP:rs201319489)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068154" FT VARIANT 2702 FT /note="R -> C (in CHARGES; uncertain significance; FT dbSNP:rs1373315351)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068155" FT VARIANT 2725 FT /note="I -> V (in dbSNP:rs113877656)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068422" FT VARIANT 2733 FT /note="A -> T (in CHARGES; uncertain significance; FT dbSNP:rs370231679)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068156" FT VARIANT 2750 FT /note="F -> L (in dbSNP:rs3750308)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_033251" FT VARIANT 2780 FT /note="A -> V (in dbSNP:rs775132352)" FT /evidence="ECO:0000269|PubMed:22461308" FT /id="VAR_068423" FT VARIANT 2789 FT /note="A -> T (in dbSNP:rs200140270)" FT /evidence="ECO:0000269|PubMed:18834967, FT ECO:0000269|PubMed:22461308" FT /id="VAR_054625" FT VARIANT 2806 FT /note="L -> V (in dbSNP:rs45521933)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068157" FT VARIANT 2833 FT /note="Q -> P (in HH5)" FT /evidence="ECO:0000269|PubMed:25077900" FT /id="VAR_072969" FT VARIANT 2857 FT /note="S -> A" FT /evidence="ECO:0000269|PubMed:21158681, FT ECO:0000269|PubMed:22461308" FT /id="VAR_068158" FT VARIANT 2880 FT /note="P -> L (in HH5; phenotype consistent with normosmic FT idiopathic hypogonadotropic hypogonadism; FT dbSNP:rs113938624)" FT /evidence="ECO:0000269|PubMed:18834967" FT /id="VAR_054626" FT VARIANT 2931 FT /note="V -> M (in CHARGES; uncertain significance; FT dbSNP:rs370271088)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068159" FT VARIANT 2948 FT /note="K -> E (in HH5; phenotype consistent with Kallmann FT syndrome; dbSNP:rs1467824778)" FT /evidence="ECO:0000269|PubMed:18834967" FT /id="VAR_054627" FT VARIANT 2984 FT /note="L -> F (in dbSNP:rs184814820)" FT /evidence="ECO:0000269|PubMed:21158681" FT /id="VAR_068160" FT CONFLICT 80 FT /note="M -> T (in Ref. 1; ACY35999)" FT /evidence="ECO:0000305" FT CONFLICT 323 FT /note="V -> A (in Ref. 1; ACY35999)" FT /evidence="ECO:0000305" FT CONFLICT 408 FT /note="T -> A (in Ref. 1; ACY35999)" FT /evidence="ECO:0000305" FT CONFLICT 915 FT /note="D -> G (in Ref. 5; BAA91116)" FT /evidence="ECO:0000305" FT CONFLICT 2846 FT /note="K -> E (in Ref. 1; ACY35999)" FT /evidence="ECO:0000305" FT STRAND 2571..2573 FT /evidence="ECO:0007829|PDB:2CKC" FT TURN 2574..2577 FT /evidence="ECO:0007829|PDB:2CKC" FT STRAND 2578..2580 FT /evidence="ECO:0007829|PDB:2CKC" FT HELIX 2582..2584 FT /evidence="ECO:0007829|PDB:2V0E" FT HELIX 2588..2597 FT /evidence="ECO:0007829|PDB:2CKC" FT STRAND 2601..2604 FT /evidence="ECO:0007829|PDB:2CKC" FT TURN 2612..2615 FT /evidence="ECO:0007829|PDB:2CKC" FT HELIX 2633..2635 FT /evidence="ECO:0007829|PDB:2V0F" FT HELIX 2638..2640 FT /evidence="ECO:0007829|PDB:2V0F" FT TURN 2641..2644 FT /evidence="ECO:0007829|PDB:2V0F" FT STRAND 2649..2654 FT /evidence="ECO:0007829|PDB:2V0F" FT STRAND 2660..2663 FT /evidence="ECO:0007829|PDB:2V0F" FT HELIX 2666..2668 FT /evidence="ECO:0007829|PDB:2V0F" FT HELIX 2669..2675 FT /evidence="ECO:0007829|PDB:2V0F" FT STRAND 2679..2681 FT /evidence="ECO:0007829|PDB:2V0F" FT HELIX 2683..2692 FT /evidence="ECO:0007829|PDB:2V0F" FT STRAND 2693..2695 FT /evidence="ECO:0007829|PDB:2V0F" FT HELIX 2697..2702 FT /evidence="ECO:0007829|PDB:2V0F" SQ SEQUENCE 2997 AA; 335927 MW; 5C22675169665CC0 CRC64; MADPGMMSLF GEDGNIFSEG LEGLGECGYP ENPVNPMGQQ MPIDQGFASL QPSLHHPSTN QNQTKLTHFD HYNQYEQQKM HLMDQPNRMM SNTPGNGLAS PHSQYHTPPV PQVPHGGSGG GQMGVYPGMQ NERHGQSFVD SSSMWGPRAV QVPDQIRAPY QQQQPQPQPP QPAPSGPPAQ GHPQHMQQMG SYMARGDFSM QQHGQPQQRM SQFSQGQEGL NQGNPFIATS GPGHLSHVPQ QSPSMAPSLR HSVQQFHHHP STALHGESVA HSPRFSPNPP QQGAVRPQTL NFSSRSQTVP SPTINNSGQY SRYPYSNLNQ GLVNNTGMNQ NLGLTNNTPM NQSVPRYPNA VGFPSNSGQG LMHQQPIHPS GSLNQMNTQT MHPSQPQGTY ASPPPMSPMK AMSNPAGTPP PQVRPGSAGI PMEVGSYPNM PHPQPSHQPP GAMGIGQRNM GPRNMQQSRP FIGMSSAPRE LTGHMRPNGC PGVGLGDPQA IQERLIPGQQ HPGQQPSFQQ LPTCPPLQPH PGLHHQSSPP HPHHQPWAQL HPSPQNTPQK VPVHQHSPSE PFLEKPVPDM TQVSGPNAQL VKSDDYLPSI EQQPQQKKKK KKNNHIVAED PSKGFGKDDF PGGVDNQELN RNSLDGSQEE KKKKKRSKAK KDPKEPKEPK EKKEPKEPKT PKAPKIPKEP KEKKAKTATP KPKSSKKSSN KKPDSEASAL KKKVNKGKTE GSENSDLDKT PPPSPPPEED EDPGVQKRRS SRQVKRKRYT EDLEFKISDE EADDADAAGR DSPSNTSQSE QQESVDAEGP VVEKIMSSRS VKKQKESGEE VEIEEFYVKY KNFSYLHCQW ASIEDLEKDK RIQQKIKRFK AKQGQNKFLS EIEDELFNPD YVEVDRIMDF ARSTDDRGEP VTHYLVKWCS LPYEDSTWER RQDIDQAKIE EFEKLMSREP ETERVERPPA DDWKKSESSR EYKNNNKLRE YQLEGVNWLL FNWYNMRNCI LADEMGLGKT IQSITFLYEI YLKGIHGPFL VIAPLSTIPN WEREFRTWTE LNVVVYHGSQ ASRRTIQLYE MYFKDPQGRV IKGSYKFHAI ITTFEMILTD CPELRNIPWR CVVIDEAHRL KNRNCKLLEG LKMMDLEHKV LLTGTPLQNT VEELFSLLHF LEPSRFPSET TFMQEFGDLK TEEQVQKLQA ILKPMMLRRL KEDVEKNLAP KEETIIEVEL TNIQKKYYRA ILEKNFTFLS KGGGQANVPN LLNTMMELRK CCNHPYLING AEEKILEEFK ETHNAESPDF QLQAMIQAAG KLVLIDKLLP KLKAGGHRVL IFSQMVRCLD ILEDYLIQRR YPYERIDGRV RGNLRQAAID RFSKPDSDRF VFLLCTRAGG LGINLTAADT CIIFDSDWNP QNDLQAQARC HRIGQSKSVK IYRLITRNSY EREMFDKASL KLGLDKAVLQ SMSGRENATN GVQQLSKKEI EDLLRKGAYG ALMDEEDEGS KFCEEDIDQI LLRRTHTITI ESEGKGSTFA KASFVASGNR TDISLDDPNF WQKWAKKAEL DIDALNGRNN LVIDTPRVRK QTRLYSAVKE DELMEFSDLE SDSEEKPCAK PRRPQDKSQG YARSECFRVE KNLLVYGWGR WTDILSHGRY KRQLTEQDVE TICRTILVYC LNHYKGDENI KSFIWDLITP TADGQTRALV NHSGLSAPVP RGRKGKKVKA QSTQPVVQDA DWLASCNPDA LFQEDSYKKH LKHHCNKVLL RVRMLYYLRQ EVIGDQADKI LEGADSSEAD VWIPEPFHAE VPADWWDKEA DKSLLIGVFK HGYEKYNSMR ADPALCFLER VGMPDAKAIA AEQRGTDMLA DGGDGGEFDR EDEDPEYKPT RTPFKDEIDE FANSPSEDKE ESMEIHATGK HSESNAELGQ LYWPNTSTLT TRLRRLITAY QRSYKRQQMR QEALMKTDRR RRRPREEVRA LEAEREAIIS EKRQKWTRRE EADFYRVVST FGVIFDPVKQ QFDWNQFRAF ARLDKKSDES LEKYFSCFVA MCRRVCRMPV KPDDEPPDLS SIIEPITEER ASRTLYRIEL LRKIREQVLH HPQLGERLKL CQPSLDLPEW WECGRHDRDL LVGAAKHGVS RTDYHILNDP ELSFLDAHKN FAQNRGAGNT SSLNPLAVGF VQTPPVISSA HIQDERVLEQ AEGKVEEPEN PAAKEKCEGK EEEEETDGSG KESKQECEAE ASSVKNELKG VEVGADTGSK SISEKGSEED EEEKLEDDDK SEESSQPEAG AVSRGKNFDE ESNASMSTAR DETRDGFYME DGDPSVAQLL HERTFAFSFW PKDRVMINRL DNICEAVLKG KWPVNRRQMF DFQGLIPGYT PTTVDSPLQK RSFAELSMVG QASISGSEDI TTSPQLSKED ALNLSVPRQR RRRRRKIEIE AERAAKRRNL MEMVAQLRES QVVSENGQEK VVDLSKASRE ATSSTSNFSS LSSKFILPNV STPVSDAFKT QMELLQAGLS RTPTRHLLNG SLVDGEPPMK RRRGRRKNVE GLDLLFMSHK RTSLSAEDAE VTKAFEEDIE TPPTRNIPSP GQLDPDTRIP VINLEDGTRL VGEDAPKNKD LVEWLKLHPT YTVDMPSYVP KNADVLFSSF QKPKQKRHRC RNPNKLDINT LTGEERVPVV NKRNGKKMGG AMAPPMKDLP RWLEENPEFA VAPDWTDIVK QSGFVPESMF DRLLTGPVVR GEGASRRGRR PKSEIARAAA AAAAVASTSG INPLLVNSLF AGMDLTSLQN LQNLQSLQLA GLMGFPPGLA TAATAGGDAK NPAAVLPLML PGMAGLPNVF GLGGLLNNPL SAATGNTTTA SSQGEPEDST SKGEEKGNEN EDENKDSEKS TDAVSAADSA NGSVGAATAP AGLPSNPLAF NPFLLSTMAP GLFYPSMFLP PGLGGLTLPG FPALAGLQNA VGSSEEKAAD KAEGGPFKDG ETLEGSDAEE SLDKTAESSL LEDEIAQGEE LDSLDGGDEI ENNENDE //