CHD7_CHICK
ID CHD7_CHICK Reviewed; 3011 AA.
AC Q06A37;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 31-OCT-2006, sequence version 1.
DT 03-AUG-2022, entry version 110.
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;
OS Gallus gallus (Chicken).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda;
OC Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae;
OC Phasianinae; Gallus.
OX NCBI_TaxID=9031;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX PubMed=17149726; DOI=10.1002/bdra.20330;
RA Aramaki M., Kimura T., Udaka T., Kosaki R., Mitsuhashi T., Okada Y.,
RA Takahashi T., Kosaki K.;
RT "Embryonic expression profile of chicken CHD7, the ortholog of the
RT causative gene for CHARGE syndrome.";
RL Birth Defects Res. A Clin. Mol. Teratol. 79:50-57(2007).
CC -!- FUNCTION: Probable transcription regulator. Maybe involved in the in
CC 45S precursor rRNA production (By similarity). {ECO:0000250}.
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 -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9P2D1}.
CC -!- TISSUE SPECIFICITY: Expressed in the neural epithelium, otic placodes,
CC optic placodes, branchial arches, and the olfactory placodes,.
CC {ECO:0000269|PubMed:17149726}.
CC -!- DEVELOPMENTAL STAGE: Expression is pan-neuronal at stages 8-20.
CC Expressed throughout the rostral neural ectoderm and along the
CC rostrocaudal axis but is absent from the more lateral, non-neuronal
CC ectoderm. Adjacent to the neural tube, detected at the optic and otic
CC placodes. At stage 20, expression is observed in the branchial arches
CC and olfactory placodes in addition to brain and optic and otic
CC placodes. {ECO:0000269|PubMed:17149726}.
CC -!- SIMILARITY: Belongs to the SNF2/RAD54 helicase family. {ECO:0000305}.
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; DQ978381; ABI96999.1; -; mRNA.
DR RefSeq; NP_001071054.1; NM_001077586.2.
DR SMR; Q06A37; -.
DR STRING; 9031.ENSGALP00000024904; -.
DR PaxDb; Q06A37; -.
DR PRIDE; Q06A37; -.
DR GeneID; 421140; -.
DR KEGG; gga:421140; -.
DR CTD; 55636; -.
DR VEuPathDB; HostDB:geneid_421140; -.
DR eggNOG; KOG0384; Eukaryota.
DR HOGENOM; CLU_000315_5_0_1; -.
DR InParanoid; Q06A37; -.
DR OrthoDB; 7181at2759; -.
DR PhylomeDB; Q06A37; -.
DR PRO; PR:Q06A37; -.
DR Proteomes; UP000000539; Unplaced.
DR GO; GO:0000785; C:chromatin; IBA:GO_Central.
DR GO; GO:0005730; C:nucleolus; IEA:Ensembl.
DR GO; GO:0005654; C:nucleoplasm; IEA:Ensembl.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
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:0003678; F:DNA helicase activity; IEA:UniProtKB-EC.
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; IBA:GO_Central.
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; IEA:Ensembl.
DR GO; GO:0021545; P:cranial nerve development; IBA:GO_Central.
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; IEA:Ensembl.
DR GO; GO:0030540; P:female genitalia development; IEA:Ensembl.
DR GO; GO:0003007; P:heart morphogenesis; IBA:GO_Central.
DR GO; GO:0042472; P:inner ear morphogenesis; IBA:GO_Central.
DR GO; GO:0060384; P:innervation; IEA:Ensembl.
DR GO; GO:0043584; P:nose development; IEA:Ensembl.
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:0010468; P:regulation of gene expression; IBA:GO_Central.
DR GO; GO:0060123; P:regulation of growth hormone secretion; IEA:Ensembl.
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; IEA:Ensembl.
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; IEA:Ensembl.
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; IEA:Ensembl.
DR GO; GO:0030217; P:T cell differentiation; IEA:Ensembl.
DR GO; GO:0006366; P:transcription by RNA polymerase II; IEA:Ensembl.
DR GO; GO:0003222; P:ventricular trabecula myocardium morphogenesis; IEA:Ensembl.
DR Gene3D; 3.40.5.120; -; 2.
DR Gene3D; 3.40.50.10810; -; 1.
DR Gene3D; 3.40.50.300; -; 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; IPR000330; SNF2_N.
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; SSF160481; 2.
DR SUPFAM; SSF52540; SSF52540; 2.
DR SUPFAM; SSF54160; SSF54160; 2.
DR PROSITE; PS50013; CHROMO_2; 2.
DR PROSITE; PS51192; HELICASE_ATP_BIND_1; 1.
DR PROSITE; PS51194; HELICASE_CTER; 1.
PE 2: Evidence at transcript level;
KW ATP-binding; Chromatin regulator; Coiled coil; DNA-binding; Helicase;
KW Hydrolase; Nucleotide-binding; Nucleus; Phosphoprotein; Reference proteome;
KW Repeat; rRNA processing; Transcription; Transcription regulation.
FT CHAIN 1..3011
FT /note="Chromodomain-helicase-DNA-binding protein 7"
FT /id="PRO_0000289965"
FT DOMAIN 801..868
FT /note="Chromo 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00053"
FT DOMAIN 883..948
FT /note="Chromo 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00053"
FT DOMAIN 981..1155
FT /note="Helicase ATP-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00541"
FT DOMAIN 1295..1465
FT /note="Helicase C-terminal"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00542"
FT REGION 90..146
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 159..189
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 202..422
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 502..806
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 941..960
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1577..1602
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1836..1869
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2136..2291
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2825..2900
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2946..3011
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 2403..2433
FT /evidence="ECO:0000255"
FT MOTIF 1106..1109
FT /note="DEAH box"
FT COMPBIAS 90..106
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 123..137
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 202..254
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 277..390
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 391..419
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 502..517
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 518..540
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 543..559
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 656..691
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 699..766
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 781..796
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1577..1600
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1853..1869
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2136..2169
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2170..2240
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2258..2276
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2277..2291
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2840..2864
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2865..2900
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2950..2984
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2987..3011
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 994..1001
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00541"
FT MOD_RES 2561
FT /note="Phosphoserine"
FT /evidence="ECO:0000250"
SQ SEQUENCE 3011 AA; 338213 MW; E544AB2C80E7C6D7 CRC64;
MADPGMMSLF GEDGNIFSEG LEGLGECGYP ENTVNPMGQQ MPMDQGFPSL QSSLHHPPAN
QNQAKLTHFD HYNQYEQQKM HLMDQPNRMI SNAPGNGIAS PHSQYHNPPV PQVPHGSGAS
GQMGVYPSMQ NERHGQPFVD SGSMWGPRAV QVPDQIRAPY QQQQQQPQPT QPPQAPSGPP
GQGHPQHMQQ MGNYMARGDF SMQQHGQPQQ QRMNQFSQGQ EGLNQGNPFI ATSGPGHLSH
VPQQNPSMAP SLRHSVQQFH HHPPTALHGE SVAHSPRFSP NPPQQGAVRP QTLNFSSRSQ
TVPSPTINNS GQYSRYPYSN LNQGLVNNTG MNQNLGLTNN TPMNQSVPRY PNAVGFPSNS
GQGLMHQQPI HPSGSLNQMN TQTMHPSQPQ GTYASPPPMS PMKAMSNPAG TPPPQVRPGS
AGIPMEVGSY PNIPHPQPSH QPPGAMGIGQ RNMGPRNMQQ NRPFMGMSST PREMGGHMRP
NGCPGVGLAD PQAIQERLIS GQQLPSQQQS FQQQMPTCPP MQPHPGIHHQ SSPPPHPHHQ
PWAQLHQSPQ NTPQKVPVLQ HSPSEPFLEK PVPDMTQVSG PNTQLVKSDD YLPSVEPQPQ
QKKKKKKNNH IAAEGPSKSF GKEDFPGGLD SQNLSRNSVD CSQEDKKKKK KPKAKKEPKD
PKEPKEKKEP KTPKVPKTPK EPKEKKAKNT TPKPKTSKKT SNKKTDSESS AAKKKVNKGK
EGSENSDLDK TPPPSPHPED EDDPGVQKRR SSRQVKRKRY TEDLEFKISD EEADDADAAG
RDSPSNTSQS EQQESADAEG PVVEKIMSSR SVKKKMENGE EVEIEEFYVK YKNFSYLHCQ
WASVEELDKD KRIQQKIKRF KAKQGQNKFL SEIDDELFNP DYVEIDRILD FSRSTDDNGE
PVTHYLVKWC SLPYEDSTWE LKQDIDQAKI EEFEKLMSRE PEMERVERPP ADDWKKSESS
REYKNNNKLR EYQLEGVNWL LFNWYNTRNC ILADEMGLGK TIQSITFLYE IYLKGIHGPF
LVIAPLSTIP NWEREFRTWT ELNVVVYHGS QASRRTIQLY EMYFKDPQGR VIKGSYKFHA
IITTFEMILT DCPELRNIPW RCVVIDEAHR LKNRNCKLLE GLKMMDLEHK VLLTGTPLQN
TVEELFSLLH FLEPGRFPSE TTFMQEFGDL KTEEQVQKLQ AILKPMMLRR LKEDVEKNLA
PKEETIIEVE LTNIQKKYYR AILEKNFAFL SKGGGQANVP NLLNTMMELR KCCNHPYLIN
GAEEKILEEF KETHNADSPD FQLQAMIQAA GKLVLIDKLL PKLKAGGHRV LIFSQMVRCL
DILEDYLIQR RYPYERIDGR VRGNLRQAAI DRFSRPDSDR FVFLLCTRAG GLGINLTAAD
TCIIFDSDWN PQNDLQAQAR CHRIGQSKSV KIYRLITRNS YEREMFDKAS LKLGLDKAVL
QSMSGRENAT NGVQQLSKKE IEDLLRKGAY GALMDEEDEG SKFCEEDIDQ ILLRRTHTIT
IESEGKGSTF AKASFVASGN RTDISLDDPN FWQKWAKKAE LDIDALNGRN NLVIDTPRVR
KQTRLYSAVK EDELMEFSDL ESDSEEKPST KPRRPQDKSQ GYARSECFRV EKNLLVYGWG
RWTDILSHGR YKRQLTEQDV ETICRTILVY CLNHYKGDEN IKSFIWDLIT PTADGQTRAL
VNHSGLSAPV PRGRKGKKVK AQSSQPMLQD ADWLTTCNPD VLFQEDSYRK HLKHHCNKVL
LRVRMLYYLR QEVIGDQADR ILEGADSSEV DVWIPEPFHA EVPADWWDKE ADKSLLIGVF
KHGYEKYNSM RADSTLCFLE RVGMPDAKAI AAEQRGTDML ADGGDGGEFD REDEDPEYKP
TRTPFKDEID EFANSPPEDK EESIEIHPNK HSESNSELGQ LYWPNTSTLT TRLRRLITAY
QRSYKRQQMR QEALMKTDRR RRRPREEVRA LEAEREAIIT EKRQKWTRRE EADFYRVVST
FGIIFDPIKH QFDWNQFRAF ARLDKKSDES LEKYFNGFVN MCRRVCRMPV KPDDEPPDLS
TMIEPITEER ASRTLYRIEL LRKIREQVLH HPQLGERLKL CQPSLDLPEW WECGKHDKDL
LIGAAKHGVS RTDYHILNDP ELSFLEAHKN FAQNRGTGNA NTVSSLHPVG AGCSQTPPIV
PSTPVQEEKS TEQTESKVEG SENPAAKEKS DIKEETDIAD KDTKQDCDAE AETGSVKCEL
KDIEMSTDVD PKSISEKGSE EDEEEKLDDD DKSEESSQPE AGAVSQGKNF DEESNASMST
ARDETRDGFY MEDGDPSVVQ LLHERTFAFS FWPKDRVMIN RLDNICEAVL KGKWPVNRRQ
MFDFQGLIPG YTPTAVDSPL QKRSFAELSM IGQASISGSE DITASPQLSK EDALNLSVPR
QRRRRRRKIE IEAERAAKRR NLMEMVAQLR ESQVVSENGQ EKVVDLSKAS REATSSTSNF
SSVTSKFILP NVSTPVSDAF KTQMELLQAG LSRTPTRHLL NGSLIDGEPP MKRRRGRRKN
VEGLDLLFMS NKRTSLTVED AEVTKAFEED MEALPARNIP SPGQLDPDTR IPVINLEDGT
RLVGEDAPKN KDLVEWLKLH PTYTVDMPSY VPKSADVLFS SFQKPKQKRH RCRNPNKLDI
NTLTGEERVP VVNKRNGKKM GGAMAPPMKD LPRWLEENPE FAVAPDWTDI VKQSGFVPES
MFDRLLTGPV VREEGASRRG RRPKSEIAKA AAAAAAVAST SGINPLLMNS LFAGMDLTSL
QNLQNLQSLQ LAGLMGFPPG LATAAAAGGD AKNPAAMLPL MLPGMAGLPN MFGLSGLLNN
PITATTGNAT TASGQGETED GASKAEEKKN ENEEENKDSE KSTDTVSATD SANGSVSAAT
AATTATATTT TTTNTGLPTN PLAFNPFLLS TMAPGLFYPS MFLPPGLGGL TLPGFPALAG
LQNAVGSNEE KATDKTEGTA FKDEENLEGS DAEESLDKTA DSSILEDEIA QGEELDSLDG
GEEIENNEND E
