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Q9P2D1

- CHD7_HUMAN

UniProt

Q9P2D1 - CHD7_HUMAN

Protein

Chromodomain-helicase-DNA-binding protein 7

Gene

CHD7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 134 (01 Oct 2014)
      Sequence version 3 (29 May 2007)
      Previous versions | rss
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    Functioni

    Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production.1 Publication

    Catalytic activityi

    ATP + H2O = ADP + phosphate.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi993 – 10008ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. chromatin binding Source: BHF-UCL
    3. DNA binding Source: UniProtKB-KW
    4. helicase activity Source: UniProtKB-KW
    5. protein binding Source: UniProtKB

    GO - Biological processi

    1. adult heart development Source: Ensembl
    2. adult walking behavior Source: Ensembl
    3. artery morphogenesis Source: Ensembl
    4. blood circulation Source: Ensembl
    5. central nervous system development Source: BHF-UCL
    6. chromatin modification Source: UniProtKB-KW
    7. cognition Source: BHF-UCL
    8. cranial nerve development Source: BHF-UCL
    9. embryonic hindlimb morphogenesis Source: Ensembl
    10. face development Source: BHF-UCL
    11. female genitalia development Source: Ensembl
    12. genitalia development Source: BHF-UCL
    13. heart morphogenesis Source: BHF-UCL
    14. inner ear morphogenesis Source: BHF-UCL
    15. in utero embryonic development Source: BHF-UCL
    16. limb development Source: BHF-UCL
    17. nose development Source: BHF-UCL
    18. palate development Source: BHF-UCL
    19. positive regulation of multicellular organism growth Source: Ensembl
    20. regulation of growth hormone secretion Source: BHF-UCL
    21. regulation of transcription, DNA-templated Source: BHF-UCL
    22. retina development in camera-type eye Source: BHF-UCL
    23. rRNA processing Source: UniProtKB-KW
    24. semicircular canal morphogenesis Source: Ensembl
    25. sensory perception of sound Source: Ensembl
    26. skeletal system development Source: BHF-UCL
    27. T cell differentiation Source: BHF-UCL
    28. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Chromatin regulator, Helicase, Hydrolase

    Keywords - Biological processi

    rRNA processing, Transcription, Transcription regulation

    Keywords - Ligandi

    ATP-binding, DNA-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Chromodomain-helicase-DNA-binding protein 7 (EC:3.6.4.12)
    Short name:
    CHD-7
    Alternative name(s):
    ATP-dependent helicase CHD7
    Gene namesi
    Name:CHD7
    Synonyms:KIAA1416
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:20626. CHD7.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    CHARGE syndrome (CHARGES) [MIM:214800]: Common cause of congenital anomalies. Is characterized by a non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.8 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti41 – 411M → I in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068104
    Natural varianti72 – 721Y → C in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068375
    Natural varianti86 – 861P → R in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068105
    Natural varianti99 – 991A → P in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068377
    Natural varianti238 – 2381V → M in a patient with CHARGES; unknown pathological significance. 1 Publication
    Corresponds to variant rs200898742 [ dbSNP | Ensembl ].
    VAR_068108
    Natural varianti254 – 2541Q → E in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068380
    Natural varianti439 – 4391P → S in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068382
    Natural varianti558 – 5581P → A in a patient with CHARGES; unknown pathological significance. 2 Publications
    VAR_068112
    Natural varianti699 – 6991S → G in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068385
    Natural varianti699 – 6991S → T in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068114
    Natural varianti728 – 7281D → N in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068115
    Natural varianti840 – 8401W → C in CHARGES. 1 Publication
    VAR_068387
    Natural varianti871 – 8711E → D in CHARGES. 1 Publication
    VAR_068117
    Natural varianti894 – 8941T → A in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068118
    Natural varianti907 – 9071K → T in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068119
    Natural varianti917 – 9171T → M in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068120
    Natural varianti938 – 9381R → K in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068121
    Natural varianti942 – 9421T → A in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068388
    Natural varianti944 – 9441R → H in a patient with CHARGES; unknown pathological significance. 2 Publications
    Corresponds to variant rs117506164 [ dbSNP | Ensembl ].
    VAR_068122
    Natural varianti947 – 9471R → Q in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068123
    Natural varianti975 – 9751G → R in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068389
    Natural varianti1020 – 10201L → S in CHARGES. 2 Publications
    VAR_068124
    Natural varianti1028 – 10281I → V in CHARGES. 3 Publications
    VAR_021059
    Natural varianti1031 – 10311W → G in CHARGES. 1 Publication
    VAR_033245
    Natural varianti1031 – 10311W → R in CHARGES. 1 Publication
    VAR_068390
    Natural varianti1081 – 10811I → S in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068391
    Natural varianti1082 – 10821T → N in CHARGES. 1 Publication
    VAR_068392
    Natural varianti1101 – 11011C → R in CHARGES. 1 Publication
    VAR_068393
    Natural varianti1203 – 12031E → Q in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068125
    Natural varianti1208 – 12081V → D in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068126
    Natural varianti1214 – 12141Q → R in CHARGES. 2 Publications
    VAR_033246
    Natural varianti1251 – 12511C → R in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068394
    Natural varianti1257 – 12571L → R in CHARGES. 1 Publication
    VAR_021060
    Natural varianti1292 – 12921L → P in CHARGES. 1 Publication
    VAR_068395
    Natural varianti1294 – 12941L → P in CHARGES. 2 Publications
    VAR_033247
    Natural varianti1317 – 13171R → C in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068396
    Natural varianti1318 – 13181C → R in CHARGES. 1 Publication
    VAR_068397
    Natural varianti1322 – 13221L → P in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068127
    Natural varianti1345 – 13451R → C in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068128
    Natural varianti1345 – 13451R → H in CHARGES. 1 Publication
    VAR_068398
    Natural varianti1395 – 13951Q → H in CHARGES. 1 Publication
    VAR_068129
    Natural varianti1416 – 14161T → R in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068130
    Natural varianti1457 – 14571K → Q in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068131
    Natural varianti1576 – 15761F → C in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068132
    Natural varianti1617 – 16171G → D in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068400
    Natural varianti1617 – 16171G → S in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068133
    Natural varianti1619 – 16191G → V in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068401
    Natural varianti1684 – 16841G → S in CHARGES. 3 Publications
    VAR_068134
    Natural varianti1739 – 17391L → R in CHARGES. 1 Publication
    VAR_068135
    Natural varianti1745 – 17451L → P Found in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_069034
    Natural varianti1791 – 17911D → E in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068136
    Natural varianti1797 – 17971G → V in CHARGES. 1 Publication
    VAR_068403
    Natural varianti1802 – 18021G → D in CHARGES. 1 Publication
    VAR_068137
    Natural varianti1812 – 18121D → G in CHARGES. 1 Publication
    VAR_068404
    Natural varianti1812 – 18121D → H in CHARGES. 1 Publication
    VAR_068405
    Natural varianti1815 – 18151L → P in CHARGES. 2 Publications
    VAR_033248
    Natural varianti1866 – 18661D → G in a patient with CHARGES; unknown pathological significance. 2 Publications
    VAR_068138
    Natural varianti1950 – 19501A → T in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068139
    Natural varianti2065 – 20651R → H in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068140
    Natural varianti2065 – 20651R → S in CHARGES. 1 Publication
    VAR_068141
    Natural varianti2074 – 20741L → P in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068408
    Natural varianti2084 – 20841S → G in a patient with CHARGES; unknown pathological significance. 1 Publication
    Corresponds to variant rs201083157 [ dbSNP | Ensembl ].
    VAR_068142
    Natural varianti2091 – 20911W → R in CHARGES; no effect on interaction with CHD8. 1 Publication
    VAR_068409
    Natural varianti2096 – 20961H → R in CHARGES; no effect on interaction with CHD8. 1 Publication
    VAR_033249
    Natural varianti2097 – 20971D → G in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068410
    Natural varianti2102 – 21021V → I Found in a patient with CHARGES; unknown pathological significance; has no effect on interaction with CHD8. 2 Publications
    VAR_068411
    Natural varianti2103 – 21031G → D in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068143
    Natural varianti2108 – 21081G → R in CHARGES; has no effect on interaction with CHD8. 2 Publications
    VAR_068144
    Natural varianti2116 – 21161I → N in CHARGES. 1 Publication
    VAR_068145
    Natural varianti2259 – 22591A → T in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068414
    Natural varianti2286 – 22861G → A in CHARGES. 1 Publication
    VAR_068415
    Natural varianti2312 – 23121K → T in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068416
    Natural varianti2319 – 23191R → C Found in patients with CHARGES; unknown pathological significance. 2 Publications
    VAR_068148
    Natural varianti2319 – 23191R → S in CHARGES. 1 Publication
    VAR_033250
    Natural varianti2366 – 23661L → R in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068417
    Natural varianti2418 – 24181R → G in CHARGES. 1 Publication
    VAR_068150
    Natural varianti2464 – 24641K → E in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068419
    Natural varianti2495 – 24951R → S in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068151
    Natural varianti2683 – 26831P → S in a patient with CHARGES; unknown pathological significance. 1 Publication
    Corresponds to variant rs201319489 [ dbSNP | Ensembl ].
    VAR_068154
    Natural varianti2702 – 27021R → C in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068155
    Natural varianti2733 – 27331A → T in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068156
    Natural varianti2931 – 29311V → M in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068159
    Idiopathic scoliosis 3 (IS3) [MIM:608765]: An abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti55 – 551H → R in HH5; phenotype consistent with Kallmann syndrome. 1 Publication
    VAR_054623
    Natural varianti834 – 8341S → F in HH5; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism. 1 Publication
    VAR_054624
    Natural varianti2880 – 28801P → L in HH5; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism. 1 Publication
    VAR_054626
    Natural varianti2948 – 29481K → E in HH5; phenotype consistent with Kallmann syndrome. 1 Publication
    VAR_054627

    Keywords - Diseasei

    Disease mutation, Hypogonadotropic hypogonadism, Kallmann syndrome

    Organism-specific databases

    MIMi214800. phenotype.
    608765. phenotype.
    612370. phenotype.
    Orphaneti138. CHARGE syndrome.
    478. Kallmann syndrome.
    432. Normosmic congenital hypogonadotropic hypogonadism.
    39041. Omenn syndrome.
    PharmGKBiPA134948695.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 29972997Chromodomain-helicase-DNA-binding protein 7PRO_0000080232Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei637 – 6371Phosphoserine1 Publication
    Modified residuei725 – 7251Phosphoserine1 Publication
    Modified residuei1577 – 15771Phosphoserine1 Publication
    Modified residuei1581 – 15811Phosphoserine1 Publication
    Modified residuei1874 – 18741Phosphoserine2 Publications
    Modified residuei2231 – 22311Phosphoserine1 Publication
    Modified residuei2233 – 22331Phosphoserine1 Publication
    Modified residuei2237 – 22371Phosphoserine1 Publication
    Modified residuei2251 – 22511Phosphoserine2 Publications
    Modified residuei2272 – 22721Phosphoserine1 Publication
    Modified residuei2275 – 22751Phosphoserine1 Publication
    Modified residuei2356 – 23561Phosphoserine1 Publication
    Modified residuei2395 – 23951Phosphoserine1 Publication
    Modified residuei2472 – 24721Phosphothreonine1 Publication
    Modified residuei2533 – 25331Phosphoserine3 Publications
    Modified residuei2535 – 25351Phosphoserine1 Publication
    Modified residuei2551 – 25511Phosphothreonine2 Publications
    Modified residuei2559 – 25591Phosphoserine4 Publications
    Modified residuei2619 – 26191Phosphoserine1 Publication
    Modified residuei2956 – 29561Phosphoserine2 Publications
    Modified residuei2961 – 29611Phosphoserine2 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9P2D1.
    PaxDbiQ9P2D1.
    PRIDEiQ9P2D1.

    PTM databases

    PhosphoSiteiQ9P2D1.

    Expressioni

    Tissue specificityi

    Widely expressed in fetal and adult tissues.2 Publications

    Gene expression databases

    ArrayExpressiQ9P2D1.
    BgeeiQ9P2D1.
    CleanExiHS_CHD7.
    GenevestigatoriQ9P2D1.

    Organism-specific databases

    HPAiHPA052241.

    Interactioni

    Subunit structurei

    May interact with CTCF. Interacts with CHD8.2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    CHD8Q9HCK8-23EBI-3951683,EBI-4410319

    Protein-protein interaction databases

    BioGridi120775. 24 interactions.
    DIPiDIP-48685N.
    IntActiQ9P2D1. 3 interactions.
    MINTiMINT-5005703.
    STRINGi9606.ENSP00000392028.

    Structurei

    Secondary structure

    1
    2997
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi2571 – 25733
    Turni2574 – 25774
    Beta strandi2578 – 25803
    Helixi2582 – 25843
    Helixi2588 – 259710
    Beta strandi2601 – 26044
    Turni2612 – 26154
    Helixi2633 – 26353
    Helixi2638 – 26403
    Turni2641 – 26444
    Beta strandi2649 – 26546
    Beta strandi2660 – 26634
    Helixi2666 – 26683
    Helixi2669 – 26757
    Beta strandi2679 – 26813
    Helixi2683 – 269210
    Beta strandi2693 – 26953
    Helixi2697 – 27026

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2CKCNMR-A2563-2622[»]
    2V0ENMR-A2561-2614[»]
    2V0FNMR-A2631-2715[»]
    ProteinModelPortaliQ9P2D1.
    SMRiQ9P2D1. Positions 825-1464, 2563-2622, 2631-2715.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ9P2D1.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini800 – 86768Chromo 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini882 – 94766Chromo 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini980 – 1154175Helicase ATP-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1294 – 1464171Helicase C-terminalPROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili2401 – 243131Sequence AnalysisAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi1105 – 11084DEAH box

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi151 – 22272Gln-richAdd
    BLAST
    Compositional biasi383 – 568186Pro-richAdd
    BLAST
    Compositional biasi597 – 718122Lys-richAdd
    BLAST
    Compositional biasi1939 – 19457Poly-Arg
    Compositional biasi2165 – 225894Glu-richAdd
    BLAST
    Compositional biasi2398 – 24058Poly-Arg
    Compositional biasi2726 – 273611Poly-AlaAdd
    BLAST

    Sequence similaritiesi

    Belongs to the SNF2/RAD54 helicase family.Curated
    Contains 2 chromo domains.PROSITE-ProRule annotation
    Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
    Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil, Repeat

    Phylogenomic databases

    eggNOGiCOG0553.
    HOVERGENiHBG081150.
    InParanoidiQ9P2D1.
    KOiK14437.
    OMAiSYKRQQM.
    OrthoDBiEOG7NSB1C.
    PhylomeDBiQ9P2D1.
    TreeFamiTF313572.

    Family and domain databases

    Gene3Di3.40.50.300. 2 hits.
    InterProiIPR006576. BRK_domain.
    IPR023780. Chromo_domain.
    IPR000953. Chromo_domain/shadow.
    IPR016197. Chromodomain-like.
    IPR014001. Helicase_ATP-bd.
    IPR001650. Helicase_C.
    IPR027417. P-loop_NTPase.
    IPR001005. SANT/Myb.
    IPR000330. SNF2_N.
    [Graphical view]
    PfamiPF07533. BRK. 2 hits.
    PF00385. Chromo. 2 hits.
    PF00271. Helicase_C. 1 hit.
    PF00176. SNF2_N. 1 hit.
    [Graphical view]
    SMARTiSM00592. BRK. 2 hits.
    SM00298. CHROMO. 2 hits.
    SM00487. DEXDc. 1 hit.
    SM00490. HELICc. 1 hit.
    SM00717. SANT. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 2 hits.
    SSF54160. SSF54160. 2 hits.
    PROSITEiPS50013. CHROMO_2. 2 hits.
    PS51192. HELICASE_ATP_BIND_1. 1 hit.
    PS51194. HELICASE_CTER. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9P2D1-1) [UniParc]FASTAAdd to Basket

    Also known as: CHD7L

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MADPGMMSLF GEDGNIFSEG LEGLGECGYP ENPVNPMGQQ MPIDQGFASL     50
    QPSLHHPSTN QNQTKLTHFD HYNQYEQQKM HLMDQPNRMM SNTPGNGLAS 100
    PHSQYHTPPV PQVPHGGSGG GQMGVYPGMQ NERHGQSFVD SSSMWGPRAV 150
    QVPDQIRAPY QQQQPQPQPP QPAPSGPPAQ GHPQHMQQMG SYMARGDFSM 200
    QQHGQPQQRM SQFSQGQEGL NQGNPFIATS GPGHLSHVPQ QSPSMAPSLR 250
    HSVQQFHHHP STALHGESVA HSPRFSPNPP QQGAVRPQTL NFSSRSQTVP 300
    SPTINNSGQY SRYPYSNLNQ GLVNNTGMNQ NLGLTNNTPM NQSVPRYPNA 350
    VGFPSNSGQG LMHQQPIHPS GSLNQMNTQT MHPSQPQGTY ASPPPMSPMK 400
    AMSNPAGTPP PQVRPGSAGI PMEVGSYPNM PHPQPSHQPP GAMGIGQRNM 450
    GPRNMQQSRP FIGMSSAPRE LTGHMRPNGC PGVGLGDPQA IQERLIPGQQ 500
    HPGQQPSFQQ LPTCPPLQPH PGLHHQSSPP HPHHQPWAQL HPSPQNTPQK 550
    VPVHQHSPSE PFLEKPVPDM TQVSGPNAQL VKSDDYLPSI EQQPQQKKKK 600
    KKNNHIVAED PSKGFGKDDF PGGVDNQELN RNSLDGSQEE KKKKKRSKAK 650
    KDPKEPKEPK EKKEPKEPKT PKAPKIPKEP KEKKAKTATP KPKSSKKSSN 700
    KKPDSEASAL KKKVNKGKTE GSENSDLDKT PPPSPPPEED EDPGVQKRRS 750
    SRQVKRKRYT EDLEFKISDE EADDADAAGR DSPSNTSQSE QQESVDAEGP 800
    VVEKIMSSRS VKKQKESGEE VEIEEFYVKY KNFSYLHCQW ASIEDLEKDK 850
    RIQQKIKRFK AKQGQNKFLS EIEDELFNPD YVEVDRIMDF ARSTDDRGEP 900
    VTHYLVKWCS LPYEDSTWER RQDIDQAKIE EFEKLMSREP ETERVERPPA 950
    DDWKKSESSR EYKNNNKLRE YQLEGVNWLL FNWYNMRNCI LADEMGLGKT 1000
    IQSITFLYEI YLKGIHGPFL VIAPLSTIPN WEREFRTWTE LNVVVYHGSQ 1050
    ASRRTIQLYE MYFKDPQGRV IKGSYKFHAI ITTFEMILTD CPELRNIPWR 1100
    CVVIDEAHRL KNRNCKLLEG LKMMDLEHKV LLTGTPLQNT VEELFSLLHF 1150
    LEPSRFPSET TFMQEFGDLK TEEQVQKLQA ILKPMMLRRL KEDVEKNLAP 1200
    KEETIIEVEL TNIQKKYYRA ILEKNFTFLS KGGGQANVPN LLNTMMELRK 1250
    CCNHPYLING AEEKILEEFK ETHNAESPDF QLQAMIQAAG KLVLIDKLLP 1300
    KLKAGGHRVL IFSQMVRCLD ILEDYLIQRR YPYERIDGRV RGNLRQAAID 1350
    RFSKPDSDRF VFLLCTRAGG LGINLTAADT CIIFDSDWNP QNDLQAQARC 1400
    HRIGQSKSVK IYRLITRNSY EREMFDKASL KLGLDKAVLQ SMSGRENATN 1450
    GVQQLSKKEI EDLLRKGAYG ALMDEEDEGS KFCEEDIDQI LLRRTHTITI 1500
    ESEGKGSTFA KASFVASGNR TDISLDDPNF WQKWAKKAEL DIDALNGRNN 1550
    LVIDTPRVRK QTRLYSAVKE DELMEFSDLE SDSEEKPCAK PRRPQDKSQG 1600
    YARSECFRVE KNLLVYGWGR WTDILSHGRY KRQLTEQDVE TICRTILVYC 1650
    LNHYKGDENI KSFIWDLITP TADGQTRALV NHSGLSAPVP RGRKGKKVKA 1700
    QSTQPVVQDA DWLASCNPDA LFQEDSYKKH LKHHCNKVLL RVRMLYYLRQ 1750
    EVIGDQADKI LEGADSSEAD VWIPEPFHAE VPADWWDKEA DKSLLIGVFK 1800
    HGYEKYNSMR ADPALCFLER VGMPDAKAIA AEQRGTDMLA DGGDGGEFDR 1850
    EDEDPEYKPT RTPFKDEIDE FANSPSEDKE ESMEIHATGK HSESNAELGQ 1900
    LYWPNTSTLT TRLRRLITAY QRSYKRQQMR QEALMKTDRR RRRPREEVRA 1950
    LEAEREAIIS EKRQKWTRRE EADFYRVVST FGVIFDPVKQ QFDWNQFRAF 2000
    ARLDKKSDES LEKYFSCFVA MCRRVCRMPV KPDDEPPDLS SIIEPITEER 2050
    ASRTLYRIEL LRKIREQVLH HPQLGERLKL CQPSLDLPEW WECGRHDRDL 2100
    LVGAAKHGVS RTDYHILNDP ELSFLDAHKN FAQNRGAGNT SSLNPLAVGF 2150
    VQTPPVISSA HIQDERVLEQ AEGKVEEPEN PAAKEKCEGK EEEEETDGSG 2200
    KESKQECEAE ASSVKNELKG VEVGADTGSK SISEKGSEED EEEKLEDDDK 2250
    SEESSQPEAG AVSRGKNFDE ESNASMSTAR DETRDGFYME DGDPSVAQLL 2300
    HERTFAFSFW PKDRVMINRL DNICEAVLKG KWPVNRRQMF DFQGLIPGYT 2350
    PTTVDSPLQK RSFAELSMVG QASISGSEDI TTSPQLSKED ALNLSVPRQR 2400
    RRRRRKIEIE AERAAKRRNL MEMVAQLRES QVVSENGQEK VVDLSKASRE 2450
    ATSSTSNFSS LSSKFILPNV STPVSDAFKT QMELLQAGLS RTPTRHLLNG 2500
    SLVDGEPPMK RRRGRRKNVE GLDLLFMSHK RTSLSAEDAE VTKAFEEDIE 2550
    TPPTRNIPSP GQLDPDTRIP VINLEDGTRL VGEDAPKNKD LVEWLKLHPT 2600
    YTVDMPSYVP KNADVLFSSF QKPKQKRHRC RNPNKLDINT LTGEERVPVV 2650
    NKRNGKKMGG AMAPPMKDLP RWLEENPEFA VAPDWTDIVK QSGFVPESMF 2700
    DRLLTGPVVR GEGASRRGRR PKSEIARAAA AAAAVASTSG INPLLVNSLF 2750
    AGMDLTSLQN LQNLQSLQLA GLMGFPPGLA TAATAGGDAK NPAAVLPLML 2800
    PGMAGLPNVF GLGGLLNNPL SAATGNTTTA SSQGEPEDST SKGEEKGNEN 2850
    EDENKDSEKS TDAVSAADSA NGSVGAATAP AGLPSNPLAF NPFLLSTMAP 2900
    GLFYPSMFLP PGLGGLTLPG FPALAGLQNA VGSSEEKAAD KAEGGPFKDG 2950
    ETLEGSDAEE SLDKTAESSL LEDEIAQGEE LDSLDGGDEI ENNENDE 2997
    Length:2,997
    Mass (Da):335,927
    Last modified:May 29, 2007 - v3
    Checksum:i5C22675169665CC0
    GO
    Isoform 2 (identifier: Q9P2D1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1127-1138: EHKVLLTGTPLQ → VSDHIGDCTEPE
         1139-2997: Missing.

    Note: May be due to an intron retention.

    Show »
    Length:1,138
    Mass (Da):127,825
    Checksum:i600C90FABADB53F9
    GO
    Isoform 3 (identifier: Q9P2D1-3) [UniParc]FASTAAdd to Basket

    Also known as: CHD7S

    The sequence of this isoform differs from the canonical sequence as follows:
         833-833: F → L
         834-2620: Missing.

    Note: Ubiquitous, expression enriched in lung and large intestine.

    Show »
    Length:1,210
    Mass (Da):130,429
    Checksum:iD28E474435F41789
    GO
    Isoform 4 (identifier: Q9P2D1-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         572-2620: Missing.

    Show »
    Length:948
    Mass (Da):101,085
    Checksum:i35E7DF356C0E4904
    GO

    Sequence cautioni

    The sequence AAH14681.1 differs from that shown. Reason: Potential poly-A sequence.
    The sequence AAH80627.1 differs from that shown. Reason: Potential poly-A sequence.
    The sequence AAI10819.1 differs from that shown. Reason: Potential poly-A sequence.
    The sequence AAH14681.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAH53890.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAH68000.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAH80627.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
    The sequence BAA91113.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAA91116.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti80 – 801M → T in ACY35999. 1 PublicationCurated
    Sequence conflicti323 – 3231V → A in ACY35999. 1 PublicationCurated
    Sequence conflicti408 – 4081T → A in ACY35999. 1 PublicationCurated
    Sequence conflicti915 – 9151D → G in BAA91116. (PubMed:14702039)Curated
    Sequence conflicti2846 – 28461K → E in ACY35999. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti37 – 371M → L.1 Publication
    VAR_068374
    Natural varianti41 – 411M → I in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068104
    Natural varianti55 – 551H → R in HH5; phenotype consistent with Kallmann syndrome. 1 Publication
    VAR_054623
    Natural varianti72 – 721Y → C in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068375
    Natural varianti86 – 861P → R in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068105
    Natural varianti93 – 931T → A.1 Publication
    VAR_068376
    Natural varianti99 – 991A → P in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068377
    Natural varianti103 – 1031S → T.1 Publication
    Corresponds to variant rs41272435 [ dbSNP | Ensembl ].
    VAR_068106
    Natural varianti167 – 1671P → L.1 Publication
    VAR_068378
    Natural varianti201 – 2011Q → R.1 Publication
    VAR_068107
    Natural varianti238 – 2381V → L.1 Publication
    VAR_068379
    Natural varianti238 – 2381V → M in a patient with CHARGES; unknown pathological significance. 1 Publication
    Corresponds to variant rs200898742 [ dbSNP | Ensembl ].
    VAR_068108
    Natural varianti254 – 2541Q → E in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068380
    Natural varianti286 – 2861R → G.1 Publication
    Corresponds to variant rs61995713 [ dbSNP | Ensembl ].
    VAR_068381
    Natural varianti340 – 3401M → V.1 Publication
    Corresponds to variant rs41305525 [ dbSNP | Ensembl ].
    VAR_048731
    Natural varianti369 – 3691P → A.1 Publication
    VAR_068109
    Natural varianti439 – 4391P → S in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068382
    Natural varianti466 – 4661S → L.2 Publications
    Corresponds to variant rs71640285 [ dbSNP | Ensembl ].
    VAR_068110
    Natural varianti511 – 5111L → V.1 Publication
    VAR_069032
    Natural varianti522 – 5221G → V.2 Publications
    Corresponds to variant rs142962579 [ dbSNP | Ensembl ].
    VAR_068111
    Natural varianti524 – 5241H → P.1 Publication
    VAR_068383
    Natural varianti527 – 5271S → A.1 Publication
    VAR_069033
    Natural varianti558 – 5581P → A in a patient with CHARGES; unknown pathological significance. 2 Publications
    VAR_068112
    Natural varianti596 – 5961Q → K.1 Publication
    VAR_068384
    Natural varianti636 – 6361G → V.1 Publication
    VAR_068113
    Natural varianti699 – 6991S → G in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068385
    Natural varianti699 – 6991S → T in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068114
    Natural varianti728 – 7281D → N in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068115
    Natural varianti744 – 7441G → S.2 Publications
    Corresponds to variant rs141947938 [ dbSNP | Ensembl ].
    VAR_068116
    Natural varianti812 – 8121K → N.1 Publication
    Corresponds to variant rs61978638 [ dbSNP | Ensembl ].
    VAR_068386
    Natural varianti834 – 8341S → F in HH5; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism. 1 Publication
    VAR_054624
    Natural varianti840 – 8401W → C in CHARGES. 1 Publication
    VAR_068387
    Natural varianti871 – 8711E → D in CHARGES. 1 Publication
    VAR_068117
    Natural varianti894 – 8941T → A in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068118
    Natural varianti907 – 9071K → T in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068119
    Natural varianti917 – 9171T → M in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068120
    Natural varianti938 – 9381R → K in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068121
    Natural varianti942 – 9421T → A in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068388
    Natural varianti944 – 9441R → H in a patient with CHARGES; unknown pathological significance. 2 Publications
    Corresponds to variant rs117506164 [ dbSNP | Ensembl ].
    VAR_068122
    Natural varianti947 – 9471R → Q in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068123
    Natural varianti975 – 9751G → R in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068389
    Natural varianti1020 – 10201L → S in CHARGES. 2 Publications
    VAR_068124
    Natural varianti1028 – 10281I → V in CHARGES. 3 Publications
    VAR_021059
    Natural varianti1031 – 10311W → G in CHARGES. 1 Publication
    VAR_033245
    Natural varianti1031 – 10311W → R in CHARGES. 1 Publication
    VAR_068390
    Natural varianti1081 – 10811I → S in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068391
    Natural varianti1082 – 10821T → N in CHARGES. 1 Publication
    VAR_068392
    Natural varianti1101 – 11011C → R in CHARGES. 1 Publication
    VAR_068393
    Natural varianti1203 – 12031E → Q in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068125
    Natural varianti1208 – 12081V → D in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068126
    Natural varianti1214 – 12141Q → R in CHARGES. 2 Publications
    VAR_033246
    Natural varianti1251 – 12511C → R in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068394
    Natural varianti1257 – 12571L → R in CHARGES. 1 Publication
    VAR_021060
    Natural varianti1292 – 12921L → P in CHARGES. 1 Publication
    VAR_068395
    Natural varianti1294 – 12941L → P in CHARGES. 2 Publications
    VAR_033247
    Natural varianti1317 – 13171R → C in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068396
    Natural varianti1318 – 13181C → R in CHARGES. 1 Publication
    VAR_068397
    Natural varianti1322 – 13221L → P in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068127
    Natural varianti1345 – 13451R → C in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068128
    Natural varianti1345 – 13451R → H in CHARGES. 1 Publication
    VAR_068398
    Natural varianti1395 – 13951Q → H in CHARGES. 1 Publication
    VAR_068129
    Natural varianti1416 – 14161T → R in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068130
    Natural varianti1457 – 14571K → Q in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068131
    Natural varianti1576 – 15761F → C in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068132
    Natural varianti1594 – 15941P → S.1 Publication
    VAR_068399
    Natural varianti1617 – 16171G → D in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068400
    Natural varianti1617 – 16171G → S in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068133
    Natural varianti1619 – 16191G → V in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068401
    Natural varianti1672 – 16721A → V.1 Publication
    VAR_068402
    Natural varianti1684 – 16841G → S in CHARGES. 3 Publications
    VAR_068134
    Natural varianti1739 – 17391L → R in CHARGES. 1 Publication
    VAR_068135
    Natural varianti1745 – 17451L → P Found in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_069034
    Natural varianti1791 – 17911D → E in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068136
    Natural varianti1797 – 17971G → V in CHARGES. 1 Publication
    VAR_068403
    Natural varianti1802 – 18021G → D in CHARGES. 1 Publication
    VAR_068137
    Natural varianti1812 – 18121D → G in CHARGES. 1 Publication
    VAR_068404
    Natural varianti1812 – 18121D → H in CHARGES. 1 Publication
    VAR_068405
    Natural varianti1815 – 18151L → P in CHARGES. 2 Publications
    VAR_033248
    Natural varianti1866 – 18661D → G in a patient with CHARGES; unknown pathological significance. 2 Publications
    VAR_068138
    Natural varianti1950 – 19501A → T in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068139
    Natural varianti1972 – 19721A → G.1 Publication
    VAR_068406
    Natural varianti2062 – 20621R → W.1 Publication
    VAR_068407
    Natural varianti2065 – 20651R → H in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068140
    Natural varianti2065 – 20651R → S in CHARGES. 1 Publication
    VAR_068141
    Natural varianti2074 – 20741L → P in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068408
    Natural varianti2077 – 20771R → K Found in a patient with cleft lip and palate; unknown pathological significance. 1 Publication
    VAR_069035
    Natural varianti2084 – 20841S → G in a patient with CHARGES; unknown pathological significance. 1 Publication
    Corresponds to variant rs201083157 [ dbSNP | Ensembl ].
    VAR_068142
    Natural varianti2091 – 20911W → R in CHARGES; no effect on interaction with CHD8. 1 Publication
    VAR_068409
    Natural varianti2096 – 20961H → R in CHARGES; no effect on interaction with CHD8. 1 Publication
    VAR_033249
    Natural varianti2097 – 20971D → G in patients with CHARGES; unknown pathological significance. 1 Publication
    VAR_068410
    Natural varianti2102 – 21021V → I Found in a patient with CHARGES; unknown pathological significance; has no effect on interaction with CHD8. 2 Publications
    VAR_068411
    Natural varianti2103 – 21031G → D in a patient with CHARGES; unknown pathological significance. 1 Publication
    VAR_068143
    Natural varianti2108 – 21081G → R in CHARGES; has no effect on interaction with CHD8. 2 Publications