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Q9HCK8

- CHD8_HUMAN

UniProt

Q9HCK8 - CHD8_HUMAN

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Protein

Chromodomain-helicase-DNA-binding protein 8

Gene

CHD8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

DNA helicase that acts as a chromatin remodeling factor and regulates transcription. Acts as a transcription repressor by remodeling chromatin structure and recruiting histone H1 to target genes. Suppresses p53/TP53-mediated apoptosis by recruiting histone H1 and preventing p53/TP53 transactivation activity. Acts as a negative regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) activity. Negatively regulates CTNNB1-targeted gene expression by being recruited specifically to the promoter regions of several CTNNB1 responsive genes. Involved in both enhancer blocking and epigenetic remodeling at chromatin boundary via its interaction with CTCF. Acts as a suppressor of STAT3 activity by suppressing the LIF-induced STAT3 transcriptional activity. Also acts as a transcription activator via its interaction with ZNF143 by participating in efficient U6 RNA polymerase III transcription.2 Publications

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi836 – 8438ATPPROSITE-ProRule annotation

GO - Molecular functioni

  1. ATP binding Source: UniProtKB
  2. beta-catenin binding Source: UniProtKB
  3. DNA binding Source: UniProtKB
  4. DNA-dependent ATPase activity Source: UniProtKB
  5. DNA helicase activity Source: UniProtKB
  6. histone binding Source: UniProtKB
  7. methylated histone binding Source: UniProtKB
  8. p53 binding Source: UniProtKB

GO - Biological processi

  1. ATP catabolic process Source: GOC
  2. ATP-dependent chromatin remodeling Source: UniProtKB
  3. canonical Wnt signaling pathway Source: UniProtKB
  4. DNA duplex unwinding Source: GOC
  5. in utero embryonic development Source: Ensembl
  6. negative regulation of fibroblast apoptotic process Source: Ensembl
  7. negative regulation of transcription, DNA-templated Source: UniProtKB
  8. negative regulation of Wnt signaling pathway Source: UniProtKB
  9. positive regulation of transcription, DNA-templated Source: UniProtKB
  10. positive regulation of transcription from RNA polymerase III promoter Source: UniProtKB
  11. positive regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  12. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Activator, Chromatin regulator, Helicase, Hydrolase, Repressor

Keywords - Biological processi

Transcription, Transcription regulation, Wnt signaling pathway

Keywords - Ligandi

ATP-binding, DNA-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Chromodomain-helicase-DNA-binding protein 8 (EC:3.6.4.12)
Short name:
CHD-8
Alternative name(s):
ATP-dependent helicase CHD8
Helicase with SNF2 domain 1
Gene namesi
Name:CHD8
Synonyms:HELSNF1, KIAA1564
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:20153. CHD8.

Subcellular locationi

Nucleus 2 Publications
Note: Localizes to the promoter regions of several CTNNB1-responsive genes. Also present at known CTCF target sites.

GO - Cellular componenti

  1. MLL1 complex Source: UniProtKB
  2. nucleus Source: UniProtKB
  3. protein complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Autism 18 (AUTS18) [MIM:615032]: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.1 Publication
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2498 – 24981Missing in AUTS18. 1 Publication
VAR_069573

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi842 – 8421K → R: Abolishes ATPase activity. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi615032. phenotype.
Orphaneti106. Autism.
PharmGKBiPA134957052.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 25812581Chromodomain-helicase-DNA-binding protein 8PRO_0000080233Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei553 – 5531Phosphoserine1 Publication
Modified residuei562 – 5621Phosphoserine1 Publication
Cross-linki609 – 609Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)By similarity
Modified residuei1420 – 14201Phosphoserine3 Publications
Modified residuei1424 – 14241Phosphoserine3 Publications
Modified residuei1976 – 19761Phosphoserine1 Publication
Modified residuei1993 – 19931Phosphothreonine1 Publication
Modified residuei2008 – 20081Phosphoserine3 Publications
Modified residuei2046 – 20461Phosphoserine3 Publications
Modified residuei2051 – 20511Phosphothreonine1 Publication
Modified residuei2069 – 20691Phosphoserine1 Publication
Modified residuei2071 – 20711Phosphoserine1 Publication
Modified residuei2182 – 21821Phosphoserine1 Publication
Modified residuei2200 – 22001Phosphoserine1 Publication
Modified residuei2211 – 22111Phosphoserine1 Publication
Modified residuei2519 – 25191Phosphoserine1 Publication

Post-translational modificationi

Sumoylated.By similarity

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiQ9HCK8.
PaxDbiQ9HCK8.
PRIDEiQ9HCK8.

PTM databases

PhosphoSiteiQ9HCK8.

Expressioni

Gene expression databases

BgeeiQ9HCK8.
CleanExiHS_CHD8.
ExpressionAtlasiQ9HCK8. baseline and differential.
GenevestigatoriQ9HCK8.

Organism-specific databases

HPAiHPA052186.

Interactioni

Subunit structurei

Interacts with p53/TP53, histone H1, CTNNB1, CTCF and PIAS3. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts with CHD7.5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
ASH2LQ9UBL32EBI-1169146,EBI-540797
CHD7Q9P2D13EBI-4410319,EBI-3951683
RBBP5Q152912EBI-1169146,EBI-592823
WDR5P619643EBI-1169146,EBI-540834

Protein-protein interaction databases

BioGridi121709. 32 interactions.
IntActiQ9HCK8. 21 interactions.
MINTiMINT-7542705.

Structurei

Secondary structure

1
2581
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi2311 – 23144
Beta strandi2317 – 23193
Turni2320 – 23223
Helixi2328 – 23303
Helixi2334 – 234310
Beta strandi2347 – 23493
Helixi2351 – 23599

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2CKANMR-A2291-2364[»]
2DL6NMR-A2303-2372[»]
ProteinModelPortaliQ9HCK8.
SMRiQ9HCK8. Positions 720-779, 2303-2372.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9HCK8.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini642 – 70968Chromo 1PROSITE-ProRule annotationAdd
BLAST
Domaini724 – 79067Chromo 2PROSITE-ProRule annotationAdd
BLAST
Domaini823 – 997175Helicase ATP-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini1137 – 1288152Helicase C-terminalPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi948 – 9514DEAH box

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi292 – 410119Gln-richAdd
BLAST
Compositional biasi2069 – 209830Ser-richAdd
BLAST
Compositional biasi2493 – 250816His-richAdd
BLAST
Compositional biasi2539 – 258143Asp-richAdd
BLAST

Sequence similaritiesi

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

Repeat

Phylogenomic databases

eggNOGiCOG0553.
GeneTreeiENSGT00760000119067.
HOVERGENiHBG107676.
InParanoidiQ9HCK8.
KOiK04494.
OMAiFLAYMED.
OrthoDBiEOG7NSB1C.
PhylomeDBiQ9HCK8.
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.
IPR000330. SNF2_N.
[Graphical view]
PfamiPF07533. BRK. 1 hit.
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.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
SSF54160. SSF54160. 2 hits.
PROSITEiPS50013. CHROMO_2. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9HCK8-1) [UniParc]FASTAAdd to Basket

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

        10         20         30         40         50
MADPIMDLFD DPNLFGLDSL TDDSFNQVTQ DPIEEALGLP SSLDSLDQMN
60 70 80 90 100
QDGGGGDVGN SSASELVPPP EETAPTELSK ESTAPAPESI TLHDYTTQPA
110 120 130 140 150
SQEQPAQPVL QTSTPTSGLL QVSKSQEILS QGNPFMGVSA TAVSSSSAGG
160 170 180 190 200
QPPQSAPKIV ILKAPPSSSV TGAHVAQIQA QGITSTAQPL VAGTANGGKV
210 220 230 240 250
TFTKVLTGTP LRPGVSIVSG NTVLAAKVPG NQAAVQRIVQ PSRPVKQLVL
260 270 280 290 300
QPVKGSAPAG NPGATGPPLK PAVTLTSTPT QGESKRITLV LQQPQSGGPQ
310 320 330 340 350
GHRHVVLGSL PGKIVLQGNQ LAALTQAKNA QGQPAKVVTI QLQVQQPQQK
360 370 380 390 400
IQIVPQPPSS QPQPQQPPST QPVTLSSVQQ AQIMGPGQSP GQRLSVPVKV
410 420 430 440 450
VLQPQAGSSQ GASSGLSVVK VLSASEVAAL SSPASSAPHS GGKTGMEENR
460 470 480 490 500
RLEHQKKQEK ANRIVAEAIA RARARGEQNI PRVLNEDELP SVRPEEEGEK
510 520 530 540 550
KRRKKSAGER LKEEKPKKSK TSGASKTKGK SKLNTITPVV GKKRKRNTSS
560 570 580 590 600
DNSDVEVMPA QSPREDEESS IQKRRSNRQV KRKKYTEDLD IKITDDEEEE
610 620 630 640 650
EVDVTGPIKP EPILPEPVQE PDGETLPSMQ FFVENPSEED AAIVDKVLSM
660 670 680 690 700
RIVKKELPSG QYTEAEEFFV KYKNYSYLHC EWATISQLEK DKRIHQKLKR
710 720 730 740 750
FKTKMAQMRH FFHEDEEPFN PDYVEVDRIL DESHSIDKDN GEPVIYYLVK
760 770 780 790 800
WCSLPYEDST WELKEDVDEG KIREFKRIQS RHPELKRVNR PQASAWKKLE
810 820 830 840 850
LSHEYKNRNQ LREYQLEGVN WLLFNWYNRQ NCILADEMGL GKTIQSIAFL
860 870 880 890 900
QEVYNVGIHG PFLVIAPLST ITNWEREFNT WTEMNTIVYH GSLASRQMIQ
910 920 930 940 950
QYEMYCKDSR GRLIPGAYKF DALITTFEMI LSDCPELREI EWRCVIIDEA
960 970 980 990 1000
HRLKNRNCKL LDSLKHMDLE HKVLLTGTPL QNTVEELFSL LHFLEPSQFP
1010 1020 1030 1040 1050
SESEFLKDFG DLKTEEQVQK LQAILKPMML RRLKEDVEKN LAPKQETIIE
1060 1070 1080 1090 1100
VELTNIQKKY YRAILEKNFS FLSKGAGHTN MPNLLNTMME LRKCCNHPYL
1110 1120 1130 1140 1150
INGAEEKILT EFREACHIIP HDFHLQAMVR SAGKLVLIDK LLPKLKAGGH
1160 1170 1180 1190 1200
KVLIFSQMVR CLDILEDYLI QRRYLYERID GRVRGNLRQA AIDRFSKPDS
1210 1220 1230 1240 1250
DRFVFLLCTR AGGLGINLTA ADTCIIFDSD WNPQNDLQAQ ARCHRIGQSK
1260 1270 1280 1290 1300
AVKVYRLITR NSYEREMFDK ASLKLGLDKA VLQSMSGRDG NITGIQQFSK
1310 1320 1330 1340 1350
KEIEDLLRKG AYAAIMEEDD EGSKFCEEDI DQILLRRTTT ITIESEGKGS
1360 1370 1380 1390 1400
TFAKASFVAS ENRTDISLDD PNFWQKWAKK ADLDMDLLNS KNNLVIDTPR
1410 1420 1430 1440 1450
VRKQTRHFST LKDDDLVEFS DLESEDDERP RSRRHDRHHA YGRTDCFRVE
1460 1470 1480 1490 1500
KHLLVYGWGR WRDILSHGRF KRRMTERDVE TICRAILVYC LLHYRGDENI
1510 1520 1530 1540 1550
KGFIWDLISP AENGKTKELQ NHSGLSIPVP RGRKGKKVKS QSTFDIHKAD
1560 1570 1580 1590 1600
WIRKYNPDTL FQDESYKKHL KHQCNKVLLR VRMLYYLRQE VIGDQAEKVL
1610 1620 1630 1640 1650
GGAIASEIDI WFPVVDQLEV PTTWWDSEAD KSLLIGVFKH GYEKYNTMRA
1660 1670 1680 1690 1700
DPALCFLEKA GRPDDKAIAA EHRVLDNFSD IVEGVDFDKD CEDPEYKPLQ
1710 1720 1730 1740 1750
GPPKDQDDEG DPLMMMDEEI SVIDGDEAQV TQQPGHLFWP PGSALTARLR
1760 1770 1780 1790 1800
RLVTAYQRSY KREQMKIEAA ERGDRRRRRC EAAFKLKEIA RREKQQRWTR
1810 1820 1830 1840 1850
REQTDFYRVV STFGVEYDPD TMQFHWDRFR TFARLDKKTD ESLTKYFHGF
1860 1870 1880 1890 1900
VAMCRQVCRL PPAAGDEPPD PNLFIEPITE ERASRTLYRI ELLRRLREQV
1910 1920 1930 1940 1950
LCHPLLEDRL ALCQPPGPEL PKWWEPVRHD GELLRGAARH GVSQTDCNIM
1960 1970 1980 1990 2000
QDPDFSFLAA RMNYMQNHQA GAPAPSLSRC STPLLHQQYT SRTASPLPLR
2010 2020 2030 2040 2050
PDAPVEKSPE ETATQVPSLE SLTLKLEHEV VARSRPTPQD YEMRVSPSDT
2060 2070 2080 2090 2100
TPLVSRSVPP VKLEDEDDSD SELDLSKLSP SSSSSSSSSS SSSSTDESED
2110 2120 2130 2140 2150
EKEEKLTDQS RSKLYDEESL LSLTMSQDGF PNEDGEQMTP ELLLLQERQR
2160 2170 2180 2190 2200
ASEWPKDRVL INRIDLVCQA VLSGKWPSSR RSQEMVTGGI LGPGNHLLDS
2210 2220 2230 2240 2250
PSLTPGEYGD SPVPTPRSSS AASMAEEEAS AVSTAAAQFT KLRRGMDEKE
2260 2270 2280 2290 2300
FTVQIKDEEG LKLTFQKHKL MANGVMGDGH PLFHKKKGNR KKLVELEVEC
2310 2320 2330 2340 2350
MEEPNHLDVD LETRIPVINK VDGTLLVGED APRRAELEMW LQGHPEFAVD
2360 2370 2380 2390 2400
PRFLAYMEDR RKQKWQRCKK NNKAELNCLG MEPVQTANSR NGKKGHHTET
2410 2420 2430 2440 2450
VFNRVLPGPI APESSKKRAR RMRPDLSKMM ALMQGGSTGS LSLHNTFQHS
2460 2470 2480 2490 2500
SSGLQSVSSL GHSSATSASL PFMPFVMGGA PSSPHVDSST MLHHHHHHPH
2510 2520 2530 2540 2550
PHHHHHHHPG LRAPGYPSSP VTTASGTTLR LPPLQPEEDD DEDEEDDDDL
2560 2570 2580
SQGYDSSERD FSLIDDPMMP ANSDSSEDAD D
Length:2,581
Mass (Da):290,519
Last modified:January 11, 2011 - v5
Checksum:i379F09DC6F814851
GO
Isoform 2 (identifier: Q9HCK8-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-281: MADPIMDLFD...AVTLTSTPTQ → MK

Note: No experimental confirmation available.

Show »
Length:2,302
Mass (Da):262,348
Checksum:i3BA9FCDF2186AC0F
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti594 – 5941T → A in CAH18170. (PubMed:17974005)Curated
Sequence conflicti1008 – 10081D → N in CAH18170. (PubMed:17974005)Curated
Sequence conflicti2481 – 24811P → Q in CAH18170. (PubMed:17974005)Curated
Sequence conflicti2568 – 25681M → I in AAH36920. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2498 – 24981Missing in AUTS18. 1 Publication
VAR_069573

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 281281MADPI…STPTQ → MK in isoform 2. 1 PublicationVSP_017270Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
CR749315 mRNA. Translation: CAH18170.1.
AL834524 mRNA. Translation: CAD39180.1.
AL135744 Genomic DNA. No translation available.
AL161747 Genomic DNA. No translation available.
CB043942 mRNA. No translation available.
AB046784 mRNA. Translation: BAB13390.3.
AK131077 mRNA. Translation: BAC85127.1.
BC011695 mRNA. Translation: AAH11695.2.
BC025964 mRNA. Translation: AAH25964.1.
BC036920 mRNA. Translation: AAH36920.1.
BC063693 mRNA. Translation: AAH63693.1.
BC073903 mRNA. Translation: AAH73903.1.
BC098452 mRNA. Translation: AAH98452.1.
CCDSiCCDS45081.1. [Q9HCK8-2]
CCDS53885.1. [Q9HCK8-1]
RefSeqiNP_001164100.1. NM_001170629.1. [Q9HCK8-1]
NP_065971.2. NM_020920.3. [Q9HCK8-2]
UniGeneiHs.530698.

Genome annotation databases

EnsembliENST00000399982; ENSP00000382863; ENSG00000100888. [Q9HCK8-1]
ENST00000430710; ENSP00000406288; ENSG00000100888. [Q9HCK8-2]
ENST00000557364; ENSP00000451601; ENSG00000100888. [Q9HCK8-1]
GeneIDi57680.
KEGGihsa:57680.
UCSCiuc001war.2. human. [Q9HCK8-1]
uc001was.2. human. [Q9HCK8-2]

Polymorphism databases

DMDMi317373586.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
CR749315 mRNA. Translation: CAH18170.1 .
AL834524 mRNA. Translation: CAD39180.1 .
AL135744 Genomic DNA. No translation available.
AL161747 Genomic DNA. No translation available.
CB043942 mRNA. No translation available.
AB046784 mRNA. Translation: BAB13390.3 .
AK131077 mRNA. Translation: BAC85127.1 .
BC011695 mRNA. Translation: AAH11695.2 .
BC025964 mRNA. Translation: AAH25964.1 .
BC036920 mRNA. Translation: AAH36920.1 .
BC063693 mRNA. Translation: AAH63693.1 .
BC073903 mRNA. Translation: AAH73903.1 .
BC098452 mRNA. Translation: AAH98452.1 .
CCDSi CCDS45081.1. [Q9HCK8-2 ]
CCDS53885.1. [Q9HCK8-1 ]
RefSeqi NP_001164100.1. NM_001170629.1. [Q9HCK8-1 ]
NP_065971.2. NM_020920.3. [Q9HCK8-2 ]
UniGenei Hs.530698.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2CKA NMR - A 2291-2364 [» ]
2DL6 NMR - A 2303-2372 [» ]
ProteinModelPortali Q9HCK8.
SMRi Q9HCK8. Positions 720-779, 2303-2372.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121709. 32 interactions.
IntActi Q9HCK8. 21 interactions.
MINTi MINT-7542705.

PTM databases

PhosphoSitei Q9HCK8.

Polymorphism databases

DMDMi 317373586.

Proteomic databases

MaxQBi Q9HCK8.
PaxDbi Q9HCK8.
PRIDEi Q9HCK8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000399982 ; ENSP00000382863 ; ENSG00000100888 . [Q9HCK8-1 ]
ENST00000430710 ; ENSP00000406288 ; ENSG00000100888 . [Q9HCK8-2 ]
ENST00000557364 ; ENSP00000451601 ; ENSG00000100888 . [Q9HCK8-1 ]
GeneIDi 57680.
KEGGi hsa:57680.
UCSCi uc001war.2. human. [Q9HCK8-1 ]
uc001was.2. human. [Q9HCK8-2 ]

Organism-specific databases

CTDi 57680.
GeneCardsi GC14M021853.
HGNCi HGNC:20153. CHD8.
HPAi HPA052186.
MIMi 610528. gene.
615032. phenotype.
neXtProti NX_Q9HCK8.
Orphaneti 106. Autism.
PharmGKBi PA134957052.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0553.
GeneTreei ENSGT00760000119067.
HOVERGENi HBG107676.
InParanoidi Q9HCK8.
KOi K04494.
OMAi FLAYMED.
OrthoDBi EOG7NSB1C.
PhylomeDBi Q9HCK8.
TreeFami TF313572.

Miscellaneous databases

EvolutionaryTracei Q9HCK8.
GeneWikii CHD8.
GenomeRNAii 57680.
NextBioi 64494.
PROi Q9HCK8.
SOURCEi Search...

Gene expression databases

Bgeei Q9HCK8.
CleanExi HS_CHD8.
ExpressionAtlasi Q9HCK8. baseline and differential.
Genevestigatori Q9HCK8.

Family and domain databases

Gene3Di 3.40.50.300. 2 hits.
InterProi IPR006576. BRK_domain.
IPR023780. Chromo_domain.
IPR000953. Chromo_domain/shadow.
IPR016197. Chromodomain-like.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR000330. SNF2_N.
[Graphical view ]
Pfami PF07533. BRK. 1 hit.
PF00385. Chromo. 2 hits.
PF00271. Helicase_C. 1 hit.
PF00176. SNF2_N. 1 hit.
[Graphical view ]
SMARTi SM00592. BRK. 2 hits.
SM00298. CHROMO. 2 hits.
SM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 2 hits.
SSF54160. SSF54160. 2 hits.
PROSITEi PS50013. CHROMO_2. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Lymph node and Uterine endothelium.
  2. "The DNA sequence and analysis of human chromosome 14."
    Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
    , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. The Cancer Genome Anatomy Project (CGAP) at the National Cancer Institute
    Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 28-176 (ISOFORM 1).
  4. "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
    DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 150-2581 (ISOFORM 1).
    Tissue: Brain.
  5. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
    Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
    DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SEQUENCE REVISION.
  6. Ohara O., Nagase T., Kikuno R.
    Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION.
  7. "The nucleotide sequence of a long cDNA clone isolated from human spleen."
    Jikuya H., Takano J., Kikuno R., Nagase T., Ohara O.
    Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1038-2581.
    Tissue: Spleen.
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1674-2581.
    Tissue: Brain, Duodenum, Liver, Lung and Spleen.
  9. "Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF."
    Dou Y., Milne T.A., Tackett A.J., Smith E.R., Fukuda A., Wysocka J., Allis C.D., Chait B.T., Hess J.L., Roeder R.G.
    Cell 121:873-885(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE MLL1/MLL COMPLEX.
  10. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. "CTCF-dependent chromatin insulator is linked to epigenetic remodeling."
    Ishihara K., Oshimura M., Nakao M.
    Mol. Cell 23:733-742(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH CTCF.
  12. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
    Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
    Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-2051, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  13. "CHD8 associates with human Staf and contributes to efficient U6 RNA polymerase III transcription."
    Yuan C.-C., Zhao X., Florens L., Swanson S.K., Washburn M.P., Hernandez N.
    Mol. Cell. Biol. 27:8729-8738(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH ZNF143.
  14. "Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children."
    Zahir F., Firth H.V., Baross A., Delaney A.D., Eydoux P., Gibson W.T., Langlois S., Martin H., Willatt L., Marra M.A., Friedman J.M.
    J. Med. Genet. 44:556-561(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: POSSIBLE ASSOCIATION WITH DEVELOPMENTAL DELAY.
  15. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
    Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
    J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2182 AND SER-2211, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  16. "CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes."
    Thompson B.A., Tremblay V., Lin G., Bochar D.A.
    Mol. Cell. Biol. 28:3894-3904(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, DNA-BINDING, SUBCELLULAR LOCATION, INTERACTION WITH CTNNB1, IDENTIFICATION IN A COMPLEX WITH WDR5, MUTAGENESIS OF LYS-842.
  17. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-562; SER-1976; SER-2008; SER-2046 AND SER-2519, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  18. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  19. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-553; SER-1420; SER-1424; THR-1993; SER-2008 AND SER-2200, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  20. Cited for: INTERACTION WITH CHD7, SUBCELLULAR LOCATION.
  21. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1420; SER-1424; SER-2008 AND SER-2046, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  22. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  23. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1420; SER-1424; SER-2046; SER-2069 AND SER-2071, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  24. "Solution structure of the first BRK domain from human chromodomain-helicase-DNA-binding protein 8."
    RIKEN structural genomics initiative (RSGI)
    Submitted (OCT-2006) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 2291-2372.
  25. Cited for: VARIANT AUTS18 HIS-2498 DEL.

Entry informationi

Entry nameiCHD8_HUMAN
AccessioniPrimary (citable) accession number: Q9HCK8
Secondary accession number(s): Q4G0D8
, Q68DQ0, Q6DKH9, Q6P440, Q6ZNL7, Q8N3Z9, Q8NCY4, Q8TBR9, Q96F26
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: January 11, 2011
Last modified: October 29, 2014
This is version 141 of the entry and version 5 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

Miscellaneous

Its gene is located in the 14q11.2 region of the genome which is associated with developmental delay, cognitive impairment and similar minor anomalies in some children, suggesting that it may be a good candidate for the phenotype.

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3