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Q8TDI0

- CHD5_HUMAN

UniProt

Q8TDI0 - CHD5_HUMAN

Protein

Chromodomain-helicase-DNA-binding protein 5

Gene

CHD5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 117 (01 Oct 2014)
      Sequence version 1 (01 Jun 2002)
      Previous versions | rss
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    Functioni

    Chromatin-remodeling protein that binds DNA through histones and regulates gene transcription. May specifically recognize and bind trimethylated 'Lys-27' (H3K27me3) and non-methylated 'Lys-4' of histone H3. Plays a role in the development of the nervous system by activating the expression of genes promoting neuron terminal differentiation. In parallel, it may also positively regulate the trimethylation of histone H3 at 'Lys-27' thereby specifically repressing genes that promote the differentiation into non-neuronal cell lineages. Tumor suppressor, it regulates the expression of genes involved in cell proliferation and differentiation. Downstream activated genes may include CDKN2A that positively regulates the p53/TP53 pathway, which in turn, prevents cell proliferation. In spermatogenesis, it probably regulates histone hyperacetylation and the replacement of histones by transition proteins in chromatin, a crucial step in the condensation of spermatid chromatin and the production of functional spermatozoa.1 Publication

    Catalytic activityi

    ATP + H2O = ADP + phosphate.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri343 – 39048PHD-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri416 – 46348PHD-type 2PROSITE-ProRule annotationAdd
    BLAST
    Nucleotide bindingi725 – 7328ATPBy similarityPROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. ATP-dependent helicase activity Source: InterPro
    3. DNA binding Source: UniProtKB-KW
    4. H3K27me3 modified histone binding Source: UniProtKB
    5. zinc ion binding Source: InterPro

    GO - Biological processi

    1. cerebral cortex neuron differentiation Source: UniProtKB
    2. histone H3-K27 trimethylation Source: UniProtKB
    3. histone H4 acetylation Source: UniProtKB
    4. negative regulation of cell proliferation Source: UniProtKB
    5. positive regulation of signal transduction by p53 class mediator Source: UniProtKB
    6. regulation of transcription involved in cell fate commitment Source: UniProtKB
    7. spermatogenesis, exchange of chromosomal proteins Source: UniProtKB
    8. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Chromatin regulator, Helicase, Hydrolase

    Keywords - Biological processi

    Differentiation, Neurogenesis, Spermatogenesis, Transcription, Transcription regulation

    Keywords - Ligandi

    ATP-binding, DNA-binding, Metal-binding, Nucleotide-binding, Zinc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Chromodomain-helicase-DNA-binding protein 5 (EC:3.6.4.12)
    Short name:
    CHD-5
    Alternative name(s):
    ATP-dependent helicase CHD5
    Gene namesi
    Name:CHD5Imported
    Synonyms:KIAA0444
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:16816. CHD5.

    Subcellular locationi

    Nucleus 2 Publications
    Note: Associates with heterochromatin.By similarity

    GO - Cellular componenti

    1. heterochromatin Source: UniProtKB
    2. membrane Source: UniProtKB
    3. nucleus Source: UniProtKB
    4. NuRD complex Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Defects in CHD5 may be a cause of the development of cancers from epithelial, neural and hematopoietic origin. CHD5 is one of the missing genes in the del(1p36), a deletion which is extremely common in this type of cancers. A decrease of its expression, results in increased susceptibility of cells to Ras-mediated transformation in vitro and in vivo (PubMed:17289567).1 Publication

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi518 – 5181L → A: Reduced affinity for trimethylated histone H3K27me3. 1 Publication
    Mutagenesisi619 – 6191Y → E: Reduced affinity for trimethylated histone H3K27me3. 1 Publication

    Keywords - Diseasei

    Tumor suppressor

    Organism-specific databases

    PharmGKBiPA134969178.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 19541954Chromodomain-helicase-DNA-binding protein 5PRO_0000080230Add
    BLAST

    Proteomic databases

    MaxQBiQ8TDI0.
    PaxDbiQ8TDI0.
    PRIDEiQ8TDI0.

    PTM databases

    PhosphoSiteiQ8TDI0.

    Expressioni

    Tissue specificityi

    Preferentially expressed in total brain, fetal brain, and cerebellum. It is also moderately expressed in the adrenal gland and detected in testis.2 Publications

    Gene expression databases

    ArrayExpressiQ8TDI0.
    BgeeiQ8TDI0.
    CleanExiHS_CHD5.
    GenevestigatoriQ8TDI0.

    Organism-specific databases

    HPAiHPA015809.

    Interactioni

    Subunit structurei

    May be part of a nucleosome remodeling and histone deacetylation, NuRD-like, complex composed at least of GATAD2B, HDAC1, HDAC2 and MTA3.By similarity

    Protein-protein interaction databases

    BioGridi117504. 1 interaction.
    IntActiQ8TDI0. 1 interaction.
    STRINGi9606.ENSP00000262450.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TDI0.
    SMRiQ8TDI0. Positions 315-468, 588-644, 943-1195.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini497 – 55458Chromo 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini592 – 65362Chromo 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini712 – 896185Helicase ATP-bindingPROSITE-ProRule annotationAdd
    BLAST
    Domaini1028 – 1193166Helicase C-terminalPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni343 – 653311Histone-bindingAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi847 – 8504DEAH box

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi49 – 11668Lys-richAdd
    BLAST

    Domaini

    The PHD domains mediate specific binding to histone H3 unmethylated at 'Lys-4' and may preferentially recruit the protein to transcriptionally inactive genes.By similarity
    The chromo domains mediate specific binding to histone H3 trimethylated at 'Lys-27' (H3K27me3) and may be required in neuron differentiation for proper gene regulation.1 Publication

    Sequence similaritiesi

    Belongs to the SNF2/RAD54 helicase family.Sequence Analysis
    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
    Contains 2 PHD-type zinc fingers.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri343 – 39048PHD-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri416 – 46348PHD-type 2PROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiCOG0553.
    HOGENOMiHOG000231124.
    HOVERGENiHBG005326.
    InParanoidiQ8TDI0.
    KOiK14435.
    OMAiKRIDDGD.
    OrthoDBiEOG7C8GG7.
    PhylomeDBiQ8TDI0.
    TreeFamiTF106448.

    Family and domain databases

    Gene3Di3.30.40.10. 2 hits.
    3.40.50.300. 2 hits.
    InterProiIPR028727. CHD5.
    IPR012957. CHD_C2.
    IPR012958. CHD_N.
    IPR023780. Chromo_domain.
    IPR000953. Chromo_domain/shadow.
    IPR016197. Chromodomain-like.
    IPR002464. DNA/RNA_helicase_DEAH_CS.
    IPR009462. DUF1086.
    IPR009463. DUF1087.
    IPR014001. Helicase_ATP-bd.
    IPR001650. Helicase_C.
    IPR027417. P-loop_NTPase.
    IPR000330. SNF2_N.
    IPR019786. Zinc_finger_PHD-type_CS.
    IPR011011. Znf_FYVE_PHD.
    IPR001965. Znf_PHD.
    IPR019787. Znf_PHD-finger.
    IPR001841. Znf_RING.
    IPR013083. Znf_RING/FYVE/PHD.
    [Graphical view]
    PANTHERiPTHR10799:SF583. PTHR10799:SF583. 1 hit.
    PfamiPF08074. CHDCT2. 1 hit.
    PF08073. CHDNT. 1 hit.
    PF00385. Chromo. 2 hits.
    PF06461. DUF1086. 1 hit.
    PF06465. DUF1087. 1 hit.
    PF00271. Helicase_C. 1 hit.
    PF00628. PHD. 2 hits.
    PF00176. SNF2_N. 1 hit.
    [Graphical view]
    SMARTiSM00298. CHROMO. 2 hits.
    SM00487. DEXDc. 1 hit.
    SM00490. HELICc. 1 hit.
    SM00249. PHD. 2 hits.
    SM00184. RING. 2 hits.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 2 hits.
    SSF54160. SSF54160. 3 hits.
    SSF57903. SSF57903. 1 hit.
    PROSITEiPS50013. CHROMO_2. 2 hits.
    PS00690. DEAH_ATP_HELICASE. 1 hit.
    PS51192. HELICASE_ATP_BIND_1. 1 hit.
    PS51194. HELICASE_CTER. 1 hit.
    PS01359. ZF_PHD_1. 2 hits.
    PS50016. ZF_PHD_2. 2 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q8TDI0-1 [UniParc]FASTAAdd to Basket

    « Hide

    MRGPVGTEEE LPRLFAEEME NEDEMSEEED GGLEAFDDFF PVEPVSLPKK     50
    KKPKKLKENK CKGKRKKKEG SNDELSENEE DLEEKSESEG SDYSPNKKKK 100
    KKLKDKKEKK AKRKKKDEDE DDNDDGCLKE PKSSGQLMAE WGLDDVDYLF 150
    SEEDYHTLTN YKAFSQFLRP LIAKKNPKIP MSKMMTVLGA KWREFSANNP 200
    FKGSSAAAAA AAVAAAVETV TISPPLAVSP PQVPQPVPIR KAKTKEGKGP 250
    GVRKKIKGSK DGKKKGKGKK TAGLKFRFGG ISNKRKKGSS SEEDEREESD 300
    FDSASIHSAS VRSECSAALG KKSKRRRKKK RIDDGDGYET DHQDYCEVCQ 350
    QGGEIILCDT CPRAYHLVCL DPELEKAPEG KWSCPHCEKE GIQWEPKDDD 400
    DEEEEGGCEE EEDDHMEFCR VCKDGGELLC CDACPSSYHL HCLNPPLPEI 450
    PNGEWLCPRC TCPPLKGKVQ RILHWRWTEP PAPFMVGLPG PDVEPSLPPP 500
    KPLEGIPERE FFVKWAGLSY WHCSWVKELQ LELYHTVMYR NYQRKNDMDE 550
    PPPFDYGSGD EDGKSEKRKN KDPLYAKMEE RFYRYGIKPE WMMIHRILNH 600
    SFDKKGDVHY LIKWKDLPYD QCTWEIDDID IPYYDNLKQA YWGHRELMLG 650
    EDTRLPKRLL KKGKKLRDDK QEKPPDTPIV DPTVKFDKQP WYIDSTGGTL 700
    HPYQLEGLNW LRFSWAQGTD TILADEMGLG KTVQTIVFLY SLYKEGHSKG 750
    PYLVSAPLST IINWEREFEM WAPDFYVVTY TGDKESRSVI RENEFSFEDN 800
    AIRSGKKVFR MKKEVQIKFH VLLTSYELIT IDQAILGSIE WACLVVDEAH 850
    RLKNNQSKFF RVLNSYKIDY KLLLTGTPLQ NNLEELFHLL NFLTPERFNN 900
    LEGFLEEFAD ISKEDQIKKL HDLLGPHMLR RLKADVFKNM PAKTELIVRV 950
    ELSQMQKKYY KFILTRNFEA LNSKGGGNQV SLLNIMMDLK KCCNHPYLFP 1000
    VAAVEAPVLP NGSYDGSSLV KSSGKLMLLQ KMLKKLRDEG HRVLIFSQMT 1050
    KMLDLLEDFL EYEGYKYERI DGGITGGLRQ EAIDRFNAPG AQQFCFLLST 1100
    RAGGLGINLA TADTVIIYDS DWNPHNDIQA FSRAHRIGQN KKVMIYRFVT 1150
    RASVEERITQ VAKRKMMLTH LVVRPGLGSK SGSMTKQELD DILKFGTEEL 1200
    FKDDVEGMMS QGQRPVTPIP DVQSSKGGNL AASAKKKHGS TPPGDNKDVE 1250
    DSSVIHYDDA AISKLLDRNQ DATDDTELQN MNEYLSSFKV AQYVVREEDG 1300
    VEEVEREIIK QEENVDPDYW EKLLRHHYEQ QQEDLARNLG KGKRIRKQVN 1350
    YNDASQEDQE WQDELSDNQS EYSIGSEDED EDFEERPEGQ SGRRQSRRQL 1400
    KSDRDKPLPP LLARVGGNIE VLGFNARQRK AFLNAIMRWG MPPQDAFNSH 1450
    WLVRDLRGKS EKEFRAYVSL FMRHLCEPGA DGAETFADGV PREGLSRQHV 1500
    LTRIGVMSLV RKKVQEFEHV NGKYSTPDLI PEGPEGKKSG EVISSDPNTP 1550
    VPASPAHLLP APLGLPDKME AQLGYMDEKD PGAQKPRQPL EVQALPAALD 1600
    RVESEDKHES PASKERAREE RPEETEKAPP SPEQLPREEV LPEKEKILDK 1650
    LELSLIHSRG DSSELRPDDT KAEEKEPIET QQNGDKEEDD EGKKEDKKGK 1700
    FKFMFNIADG GFTELHTLWQ NEERAAVSSG KIYDIWHRRH DYWLLAGIVT 1750
    HGYARWQDIQ NDPRYMILNE PFKSEVHKGN YLEMKNKFLA RRFKLLEQAL 1800
    VIEEQLRRAA YLNMTQDPNH PAMALNARLA EVECLAESHQ HLSKESLAGN 1850
    KPANAVLHKV LNQLEELLSD MKADVTRLPS MLSRIPPVAA RLQMSERSIL 1900
    SRLTNRAGDP TIQQGAFGSS QMYSNNFGPN FRGPGPGGIV NYNQMPLGPY 1950
    VTDI 1954
    Length:1,954
    Mass (Da):223,050
    Last modified:June 1, 2002 - v1
    Checksum:iE333062B5B55E71F
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti45 – 451V → M in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035475
    Natural varianti119 – 1191D → N in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035476
    Natural varianti667 – 6671R → G in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035477
    Natural varianti1253 – 12531S → I.
    Corresponds to variant rs6657997 [ dbSNP | Ensembl ].
    VAR_048729
    Natural varianti1539 – 15391S → P.2 Publications
    Corresponds to variant rs2843493 [ dbSNP | Ensembl ].
    VAR_048730

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF425231 mRNA. Translation: AAL98962.1.
    AL031847, AL035406 Genomic DNA. Translation: CAI19450.1.
    AL035406, AL031847 Genomic DNA. Translation: CAI19891.1.
    AL117491 mRNA. Translation: CAB55959.1.
    AB007913 mRNA. Translation: BAA32289.1.
    CCDSiCCDS57.1.
    PIRiT17269.
    RefSeqiNP_056372.1. NM_015557.2.
    UniGeneiHs.522898.

    Genome annotation databases

    EnsembliENST00000262450; ENSP00000262450; ENSG00000116254.
    GeneIDi26038.
    KEGGihsa:26038.
    UCSCiuc001amb.2. human.

    Polymorphism databases

    DMDMi51701343.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF425231 mRNA. Translation: AAL98962.1 .
    AL031847 , AL035406 Genomic DNA. Translation: CAI19450.1 .
    AL035406 , AL031847 Genomic DNA. Translation: CAI19891.1 .
    AL117491 mRNA. Translation: CAB55959.1 .
    AB007913 mRNA. Translation: BAA32289.1 .
    CCDSi CCDS57.1.
    PIRi T17269.
    RefSeqi NP_056372.1. NM_015557.2.
    UniGenei Hs.522898.

    3D structure databases

    ProteinModelPortali Q8TDI0.
    SMRi Q8TDI0. Positions 315-468, 588-644, 943-1195.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 117504. 1 interaction.
    IntActi Q8TDI0. 1 interaction.
    STRINGi 9606.ENSP00000262450.

    PTM databases

    PhosphoSitei Q8TDI0.

    Polymorphism databases

    DMDMi 51701343.

    Proteomic databases

    MaxQBi Q8TDI0.
    PaxDbi Q8TDI0.
    PRIDEi Q8TDI0.

    Protocols and materials databases

    DNASUi 26038.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000262450 ; ENSP00000262450 ; ENSG00000116254 .
    GeneIDi 26038.
    KEGGi hsa:26038.
    UCSCi uc001amb.2. human.

    Organism-specific databases

    CTDi 26038.
    GeneCardsi GC01M006161.
    HGNCi HGNC:16816. CHD5.
    HPAi HPA015809.
    MIMi 610771. gene.
    neXtProti NX_Q8TDI0.
    PharmGKBi PA134969178.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0553.
    HOGENOMi HOG000231124.
    HOVERGENi HBG005326.
    InParanoidi Q8TDI0.
    KOi K14435.
    OMAi KRIDDGD.
    OrthoDBi EOG7C8GG7.
    PhylomeDBi Q8TDI0.
    TreeFami TF106448.

    Miscellaneous databases

    ChiTaRSi CHD5. human.
    GeneWikii CHD5.
    GenomeRNAii 26038.
    NextBioi 47863.
    PROi Q8TDI0.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8TDI0.
    Bgeei Q8TDI0.
    CleanExi HS_CHD5.
    Genevestigatori Q8TDI0.

    Family and domain databases

    Gene3Di 3.30.40.10. 2 hits.
    3.40.50.300. 2 hits.
    InterProi IPR028727. CHD5.
    IPR012957. CHD_C2.
    IPR012958. CHD_N.
    IPR023780. Chromo_domain.
    IPR000953. Chromo_domain/shadow.
    IPR016197. Chromodomain-like.
    IPR002464. DNA/RNA_helicase_DEAH_CS.
    IPR009462. DUF1086.
    IPR009463. DUF1087.
    IPR014001. Helicase_ATP-bd.
    IPR001650. Helicase_C.
    IPR027417. P-loop_NTPase.
    IPR000330. SNF2_N.
    IPR019786. Zinc_finger_PHD-type_CS.
    IPR011011. Znf_FYVE_PHD.
    IPR001965. Znf_PHD.
    IPR019787. Znf_PHD-finger.
    IPR001841. Znf_RING.
    IPR013083. Znf_RING/FYVE/PHD.
    [Graphical view ]
    PANTHERi PTHR10799:SF583. PTHR10799:SF583. 1 hit.
    Pfami PF08074. CHDCT2. 1 hit.
    PF08073. CHDNT. 1 hit.
    PF00385. Chromo. 2 hits.
    PF06461. DUF1086. 1 hit.
    PF06465. DUF1087. 1 hit.
    PF00271. Helicase_C. 1 hit.
    PF00628. PHD. 2 hits.
    PF00176. SNF2_N. 1 hit.
    [Graphical view ]
    SMARTi SM00298. CHROMO. 2 hits.
    SM00487. DEXDc. 1 hit.
    SM00490. HELICc. 1 hit.
    SM00249. PHD. 2 hits.
    SM00184. RING. 2 hits.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 2 hits.
    SSF54160. SSF54160. 3 hits.
    SSF57903. SSF57903. 1 hit.
    PROSITEi PS50013. CHROMO_2. 2 hits.
    PS00690. DEAH_ATP_HELICASE. 1 hit.
    PS51192. HELICASE_ATP_BIND_1. 1 hit.
    PS51194. HELICASE_CTER. 1 hit.
    PS01359. ZF_PHD_1. 2 hits.
    PS50016. ZF_PHD_2. 2 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "CHD5, a new member of the chromodomain gene family, is preferentially expressed in the nervous system."
      Thompson P.M., Gotoh T., Kok M., White P.S., Brodeur G.M.
      Oncogene 22:1002-1011(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    2. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 567-1954, VARIANT PRO-1539.
      Tissue: Testis.
    4. "Characterization of cDNA clones in size-fractionated cDNA libraries from human brain."
      Seki N., Ohira M., Nagase T., Ishikawa K., Miyajima N., Nakajima D., Nomura N., Ohara O.
      DNA Res. 4:345-349(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 977-1954, VARIANT PRO-1539.
      Tissue: Brain.
    5. Cited for: DISEASE.
    6. "CHD5, a brain-specific paralog of Mi2 chromatin remodeling enzymes, regulates expression of neuronal genes."
      Potts R.C., Zhang P., Wurster A.L., Precht P., Mughal M.R., Wood W.H., Zhang Y., Becker K.G., Mattson M.P., Pazin M.J.
      PLoS ONE 6:E24515-E24515(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    7. "CHD5 is required for neurogenesis and has a dual role in facilitating gene expression and polycomb gene repression."
      Egan C.M., Nyman U., Skotte J., Streubel G., Turner S., O'Connell D.J., Rraklli V., Dolan M.J., Chadderton N., Hansen K., Farrar G.J., Helin K., Holmberg J., Bracken A.P.
      Dev. Cell 26:223-236(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION AS A TRANSCRIPTIONAL REGULATOR, FUNCTION IN NEURON DIFFERENTIATION, INTERACTION WITH HISTONE H3K27ME3, SUBCELLULAR LOCATION, CHROMO DOMAINS, MUTAGENESIS OF LEU-518 AND TYR-619.
    8. Cited for: VARIANTS [LARGE SCALE ANALYSIS] MET-45; ASN-119 AND GLY-667.

    Entry informationi

    Entry nameiCHD5_HUMAN
    AccessioniPrimary (citable) accession number: Q8TDI0
    Secondary accession number(s): O75032
    , Q5TG89, Q7LGH2, Q9UFR9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 31, 2004
    Last sequence update: June 1, 2002
    Last modified: October 1, 2014
    This is version 117 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3