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UniProtKB - Q14839 (CHD4_HUMAN)

Protein

Chromodomain-helicase-DNA-binding protein 4

Gene

CHD4

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

Functioni

Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones.2 Publications

Miscellaneous

One of the main antigens reacting with anti-MI-2 positive sera of dermatomyositis.

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri370 – 417PHD-type 1PROSITE-ProRule annotationAdd BLAST48
Zinc fingeri449 – 496PHD-type 2PROSITE-ProRule annotationAdd BLAST48
Nucleotide bindingi751 – 758ATPPROSITE-ProRule annotation8

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • ATP-dependent DNA helicase activity Source: ProtInc
  • DNA binding Source: ProtInc
  • histone deacetylase activity Source: Reactome
  • histone deacetylase binding Source: UniProtKB
  • RNA polymerase II repressing transcription factor binding Source: BHF-UCL
  • zinc ion binding Source: ProtInc
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionChromatin regulator, DNA-binding, Helicase, Hydrolase
Biological processTranscription, Transcription regulation
LigandATP-binding, Metal-binding, Nucleotide-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-3214815 HDACs deacetylate histones
R-HSA-427389 ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
R-HSA-6804758 Regulation of TP53 Activity through Acetylation
R-HSA-73762 RNA Polymerase I Transcription Initiation
R-HSA-8943724 Regulation of PTEN gene transcription
SIGNORiQ14839

Names & Taxonomyi

Protein namesi
Recommended name:
Chromodomain-helicase-DNA-binding protein 4 (EC:3.6.4.12)
Short name:
CHD-4
Alternative name(s):
ATP-dependent helicase CHD4
Mi-2 autoantigen 218 kDa protein
Mi2-beta
Gene namesi
Name:CHD4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000111642.14
HGNCiHGNC:1919 CHD4
MIMi603277 gene
neXtProtiNX_Q14839

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Sifrim-Hitz-Weiss syndrome (SIHIWES)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant syndrome characterized by mental retardation, variable congenital defects affecting cardiac, skeletal, and urogenital systems. Short stature, macrocephaly, hearing impairment, and facial dysmorphism are present in some patients.
See also OMIM:617159
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077146851S → Y in SIHIWES. 1 PublicationCorresponds to variant dbSNP:rs886039916EnsemblClinVar.1
Natural variantiVAR_0771471003G → D in SIHIWES. 1 Publication1
Natural variantiVAR_0771481068R → H in SIHIWES. 1 PublicationCorresponds to variant dbSNP:rs886039915EnsemblClinVar.1
Natural variantiVAR_0771491127R → Q in SIHIWES; no effect on interaction with HDAC1; no effect on nuclear localization. 1 PublicationCorresponds to variant dbSNP:rs886039917EnsemblClinVar.1
Natural variantiVAR_0771501148W → L in SIHIWES. 1 PublicationCorresponds to variant dbSNP:rs886039919EnsemblClinVar.1
Natural variantiVAR_0771511173R → L in SIHIWES; no effect on interaction with HDAC1; no effect on nuclear localization. 1 PublicationCorresponds to variant dbSNP:rs886039918EnsemblClinVar.1
Natural variantiVAR_0771521608V → I in SIHIWES; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201992075EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi1108
MalaCardsiCHD4
MIMi617159 phenotype
OpenTargetsiENSG00000111642
PharmGKBiPA26455

Polymorphism and mutation databases

BioMutaiCHD4
DMDMi311033360

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000802281 – 1912Chromodomain-helicase-DNA-binding protein 4Add BLAST1912

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei44PhosphoserineCombined sources1
Cross-linki133Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki146Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki179Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki297Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei303PhosphoserineCombined sources1
Cross-linki304Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei308PhosphoserineCombined sources1
Modified residuei309PhosphoserineCombined sources1
Modified residuei310PhosphoserineCombined sources1
Modified residuei319PhosphoserineCombined sources1
Modified residuei367PhosphothreonineCombined sources1
Modified residuei428PhosphoserineCombined sources1
Modified residuei515PhosphoserineCombined sources1
Modified residuei517PhosphothreonineCombined sources1
Modified residuei529PhosphothreonineCombined sources1
Modified residuei531PhosphoserineCombined sources1
Cross-linki618Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity
Cross-linki696Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei703PhosphothreonineCombined sources1
Cross-linki711Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateBy similarity
Cross-linki711Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei1209PhosphoserineBy similarity1
Cross-linki1212Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1228Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1239Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1304Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1308PhosphoserineCombined sources1
Modified residuei1349PhosphoserineCombined sources1
Modified residuei1370PhosphoserineBy similarity1
Cross-linki1528Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1529Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1531PhosphoserineCombined sources1
Modified residuei1535PhosphoserineCombined sources1
Modified residuei1537PhosphoserineCombined sources1
Modified residuei1542PhosphothreonineBy similarity1
Modified residuei1549PhosphothreonineBy similarity1
Modified residuei1553PhosphothreonineCombined sources1
Cross-linki1565Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1570PhosphoserineCombined sources1
Cross-linki1572Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1576PhosphoserineCombined sources1
Cross-linki1584Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1602PhosphoserineCombined sources1
Cross-linki1606Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1617Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1636Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1643N6-acetyllysine; alternateCombined sources1
Cross-linki1643Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Cross-linki1647Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1653PhosphothreonineCombined sources1
Cross-linki1660Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1670Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1679PhosphothreonineCombined sources1
Cross-linki1687Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1865Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ14839
MaxQBiQ14839
PaxDbiQ14839
PeptideAtlasiQ14839
PRIDEiQ14839
ProteomicsDBi60204
60205 [Q14839-2]

PTM databases

iPTMnetiQ14839
PhosphoSitePlusiQ14839
SwissPalmiQ14839

Miscellaneous databases

PMAP-CutDBiQ14839

Expressioni

Gene expression databases

BgeeiENSG00000111642 Expressed in 236 organ(s), highest expression level in testis
CleanExiHS_CHD4
ExpressionAtlasiQ14839 baseline and differential
GenevisibleiQ14839 HS

Interactioni

Subunit structurei

Interacts with KLF1; the interaction depends on sumoylation of KLF1, and leads to its transcriptional repression (By similarity). Interacts directly with IKFZ1 in the NuRD complex. Central component of the nucleosome remodeling and histone deacetylase (NuRD) repressor complex (PubMed:9804427, PubMed:10204490, PubMed:15454082). Part of a complex containing ATR and HDAC2 (PubMed:10545197). Interacts with TRIM27 (PubMed:14530259). Interacts with ZGPAT; the interaction is direct (PubMed:19644445). Interacts with BCL6 (PubMed:15454082). Interacts with BRD4 (PubMed:21555454). Interacts with PCNT (PubMed:17626165). Interacts with SETX (PubMed:23149945). Interacts with HDAC1 (PubMed:27616479).By similarity10 Publications

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi107533, 153 interactors
ComplexPortaliCPX-880 MBD2/NuRD nucleosome remodeling and deacetylase complex
CPX-922 MBD3/NuRD nucleosome remodeling and deacetylase complex
CORUMiQ14839
DIPiDIP-31183N
IntActiQ14839, 61 interactors
MINTiQ14839
STRINGi9606.ENSP00000349508

Structurei

Secondary structure

11912
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ14839
SMRiQ14839
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ14839

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini494 – 594Chromo 1PROSITE-ProRule annotationAdd BLAST101
Domaini622 – 697Chromo 2PROSITE-ProRule annotationAdd BLAST76
Domaini738 – 922Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST185
Domaini1054 – 1203Helicase C-terminalPROSITE-ProRule annotationAdd BLAST150

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1577 – 1912Required for interaction with PCNT1 PublicationAdd BLAST336

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi873 – 876DEAH box4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi50 – 59Poly-Lys10
Compositional biasi94 – 98Poly-Glu5
Compositional biasi114 – 119Poly-Lys6
Compositional biasi134 – 138Poly-Glu5
Compositional biasi139 – 144Poly-Asp6
Compositional biasi227 – 235Poly-Ala9
Compositional biasi248 – 252Poly-Pro5
Compositional biasi350 – 354Poly-Lys5
Compositional biasi1052 – 1055Poly-Leu4
Compositional biasi1294 – 1301Poly-Glu8
Compositional biasi1665 – 1668Poly-Glu4

Sequence similaritiesi

Belongs to the SNF2/RAD54 helicase family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri370 – 417PHD-type 1PROSITE-ProRule annotationAdd BLAST48
Zinc fingeri449 – 496PHD-type 2PROSITE-ProRule annotationAdd BLAST48

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG0383 Eukaryota
COG0553 LUCA
GeneTreeiENSGT00760000119067
HOGENOMiHOG000231124
HOVERGENiHBG005326
InParanoidiQ14839
KOiK11643
PhylomeDBiQ14839
TreeFamiTF106448

Family and domain databases

CDDicd00024 CHROMO, 2 hits
cd00079 HELICc, 1 hit
Gene3Di3.30.40.10, 2 hits
3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR012957 CHD_C2
IPR012958 CHD_N
IPR016197 Chromo-like_dom_sf
IPR000953 Chromo/chromo_shadow_dom
IPR023780 Chromo_domain
IPR002464 DNA/RNA_helicase_DEAH_CS
IPR009462 DUF1086
IPR009463 DUF1087
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
IPR019786 Zinc_finger_PHD-type_CS
IPR011011 Znf_FYVE_PHD
IPR001965 Znf_PHD
IPR019787 Znf_PHD-finger
IPR013083 Znf_RING/FYVE/PHD
PfamiView protein in Pfam
PF08074 CHDCT2, 1 hit
PF08073 CHDNT, 1 hit
PF00385 Chromo, 1 hit
PF06461 DUF1086, 1 hit
PF06465 DUF1087, 1 hit
PF00271 Helicase_C, 1 hit
PF00628 PHD, 2 hits
PF00176 SNF2_N, 1 hit
SMARTiView protein in SMART
SM00298 CHROMO, 2 hits
SM00487 DEXDc, 1 hit
SM01146 DUF1086, 1 hit
SM01147 DUF1087, 1 hit
SM00490 HELICc, 1 hit
SM00249 PHD, 2 hits
SUPFAMiSSF52540 SSF52540, 2 hits
SSF54160 SSF54160, 2 hits
SSF57903 SSF57903, 1 hit
PROSITEiView protein in PROSITE
PS00598 CHROMO_1, 2 hits
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

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 29 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q14839-1) [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
MASGLGSPSP CSAGSEEEDM DALLNNSLPP PHPENEEDPE EDLSETETPK 
        60         70         80         90        100
LKKKKKPKKP RDPKIPKSKR QKKERMLLCR QLGDSSGEGP EFVEEEEEVA 
       110        120        130        140        150
LRSDSEGSDY TPGKKKKKKL GPKKEKKSKS KRKEEEEEED DDDDSKEPKS 
       160        170        180        190        200
SAQLLEDWGM EDIDHVFSEE DYRTLTNYKA FSQFVRPLIA AKNPKIAVSK 
       210        220        230        240        250
MMMVLGAKWR EFSTNNPFKG SSGASVAAAA AAAVAVVESM VTATEVAPPP 
       260        270        280        290        300
PPVEVPIRKA KTKEGKGPNA RRKPKGSPRV PDAKKPKPKK VAPLKIKLGG 
       310        320        330        340        350
FGSKRKRSSS EDDDLDVESD FDDASINSYS VSDGSTSRSS RSRKKLRTTK 
       360        370        380        390        400
KKKKGEEEVT AVDGYETDHQ DYCEVCQQGG EIILCDTCPR AYHMVCLDPD 
       410        420        430        440        450
MEKAPEGKWS CPHCEKEGIQ WEAKEDNSEG EEILEEVGGD LEEEDDHHME 
       460        470        480        490        500
FCRVCKDGGE LLCCDTCPSS YHIHCLNPPL PEIPNGEWLC PRCTCPALKG 
       510        520        530        540        550
KVQKILIWKW GQPPSPTPVP RPPDADPNTP SPKPLEGRPE RQFFVKWQGM 
       560        570        580        590        600
SYWHCSWVSE LQLELHCQVM FRNYQRKNDM DEPPSGDFGG DEEKSRKRKN 
       610        620        630        640        650
KDPKFAEMEE RFYRYGIKPE WMMIHRILNH SVDKKGHVHY LIKWRDLPYD 
       660        670        680        690        700
QASWESEDVE IQDYDLFKQS YWNHRELMRG EEGRPGKKLK KVKLRKLERP 
       710        720        730        740        750
PETPTVDPTV KYERQPEYLD ATGGTLHPYQ MEGLNWLRFS WAQGTDTILA 
       760        770        780        790        800
DEMGLGKTVQ TAVFLYSLYK EGHSKGPFLV SAPLSTIINW EREFEMWAPD 
       810        820        830        840        850
MYVVTYVGDK DSRAIIRENE FSFEDNAIRG GKKASRMKKE ASVKFHVLLT 
       860        870        880        890        900
SYELITIDMA ILGSIDWACL IVDEAHRLKN NQSKFFRVLN GYSLQHKLLL 
       910        920        930        940        950
TGTPLQNNLE ELFHLLNFLT PERFHNLEGF LEEFADIAKE DQIKKLHDML 
       960        970        980        990       1000
GPHMLRRLKA DVFKNMPSKT ELIVRVELSP MQKKYYKYIL TRNFEALNAR 
      1010       1020       1030       1040       1050
GGGNQVSLLN VVMDLKKCCN HPYLFPVAAM EAPKMPNGMY DGSALIRASG 
      1060       1070       1080       1090       1100
KLLLLQKMLK NLKEGGHRVL IFSQMTKMLD LLEDFLEHEG YKYERIDGGI 
      1110       1120       1130       1140       1150
TGNMRQEAID RFNAPGAQQF CFLLSTRAGG LGINLATADT VIIYDSDWNP 
      1160       1170       1180       1190       1200
HNDIQAFSRA HRIGQNKKVM IYRFVTRASV EERITQVAKK KMMLTHLVVR 
      1210       1220       1230       1240       1250
PGLGSKTGSM SKQELDDILK FGTEELFKDE ATDGGGDNKE GEDSSVIHYD 
      1260       1270       1280       1290       1300
DKAIERLLDR NQDETEDTEL QGMNEYLSSF KVAQYVVREE EMGEEEEVER 
      1310       1320       1330       1340       1350
EIIKQEESVD PDYWEKLLRH HYEQQQEDLA RNLGKGKRIR KQVNYNDGSQ 
      1360       1370       1380       1390       1400
EDRDWQDDQS DNQSDYSVAS EEGDEDFDER SEAPRRPSRK GLRNDKDKPL 
      1410       1420       1430       1440       1450
PPLLARVGGN IEVLGFNARQ RKAFLNAIMR YGMPPQDAFT TQWLVRDLRG 
      1460       1470       1480       1490       1500
KSEKEFKAYV SLFMRHLCEP GADGAETFAD GVPREGLSRQ HVLTRIGVMS 
      1510       1520       1530       1540       1550
LIRKKVQEFE HVNGRWSMPE LAEVEENKKM SQPGSPSPKT PTPSTPGDTQ 
      1560       1570       1580       1590       1600
PNTPAPVPPA EDGIKIEENS LKEEESIEGE KEVKSTAPET AIECTQAPAP 
      1610       1620       1630       1640       1650
ASEDEKVVVE PPEGEEKVEK AEVKERTEEP METEPKGAAD VEKVEEKSAI 
      1660       1670       1680       1690       1700
DLTPIVVEDK EEKKEEEEKK EVMLQNGETP KDLNDEKQKK NIKQRFMFNI 
      1710       1720       1730       1740       1750
ADGGFTELHS LWQNEERAAT VTKKTYEIWH RRHDYWLLAG IINHGYARWQ 
      1760       1770       1780       1790       1800
DIQNDPRYAI LNEPFKGEMN RGNFLEIKNK FLARRFKLLE QALVIEEQLR 
      1810       1820       1830       1840       1850
RAAYLNMSED PSHPSMALNT RFAEVECLAE SHQHLSKESM AGNKPANAVL 
      1860       1870       1880       1890       1900
HKVLKQLEEL LSDMKADVTR LPATIARIPP VAVRLQMSER NILSRLANRA 
      1910 
PEPTPQQVAQ QQ
Length:1,912
Mass (Da):218,005
Last modified:November 2, 2010 - v2
Checksum:i765ED8485B7BBB85
GO
Isoform 2 (identifier: Q14839-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1353-1353: R → RGVCGRPRPPPMGRSTRAVGPAHLPSLPP

Note: No experimental confirmation available.
Show »
Length:1,940
Mass (Da):220,848
Checksum:iC4D5E61DFE83B27B
GO

Computationally mapped potential isoform sequencesi

There are 29 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5GWX5F5GWX5_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD4
1,905Annotation score:
A0A0C4DGG9A0A0C4DGG9_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD4
1,937Annotation score:
A0A2R8Y212A0A2R8Y212_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD4
1,914Annotation score:
A0A2R8Y5J0A0A2R8Y5J0_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD4
1,892Annotation score:
A0A2R8YFK9A0A2R8YFK9_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD4
1,899Annotation score:
A0A2U3TZM0A0A2U3TZM0_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD4
1,902Annotation score:
A0A2R8Y521A0A2R8Y521_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD4
1,920Annotation score:
A0A2R8YER1A0A2R8YER1_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD4
1,645Annotation score:
A0A2R8YFD8A0A2R8YFD8_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD4
1,903Annotation score:
A0A2R8Y5Z7A0A2R8Y5Z7_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD4
1,425Annotation score:
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti34 – 36Missing in AAH38596 (PubMed:15489334).Curated3

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031674139E → D1 PublicationCorresponds to variant dbSNP:rs1639122Ensembl.1
Natural variantiVAR_077146851S → Y in SIHIWES. 1 PublicationCorresponds to variant dbSNP:rs886039916EnsemblClinVar.1
Natural variantiVAR_0771471003G → D in SIHIWES. 1 Publication1
Natural variantiVAR_0771481068R → H in SIHIWES. 1 PublicationCorresponds to variant dbSNP:rs886039915EnsemblClinVar.1
Natural variantiVAR_0771491127R → Q in SIHIWES; no effect on interaction with HDAC1; no effect on nuclear localization. 1 PublicationCorresponds to variant dbSNP:rs886039917EnsemblClinVar.1
Natural variantiVAR_0771501148W → L in SIHIWES. 1 PublicationCorresponds to variant dbSNP:rs886039919EnsemblClinVar.1
Natural variantiVAR_0771511173R → L in SIHIWES; no effect on interaction with HDAC1; no effect on nuclear localization. 1 PublicationCorresponds to variant dbSNP:rs886039918EnsemblClinVar.1
Natural variantiVAR_0771521608V → I in SIHIWES; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs201992075EnsemblClinVar.1
Natural variantiVAR_0316751648S → L. Corresponds to variant dbSNP:rs35512811Ensembl.1
Natural variantiVAR_0316761655I → V. Corresponds to variant dbSNP:rs16932768Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0114161353R → RGVCGRPRPPPMGRSTRAVG PAHLPSLPP in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X86691 mRNA Translation: CAA60384.1
AC006064 Genomic DNA No translation available.
BC038596 mRNA Translation: AAH38596.1
CCDSiCCDS8552.1 [Q14839-1]
RefSeqiNP_001264.2, NM_001273.3 [Q14839-1]
NP_001284482.1, NM_001297553.1
XP_006719021.1, XM_006718958.1 [Q14839-2]
UniGeneiHs.162233

Genome annotation databases

EnsembliENST00000544040; ENSP00000440542; ENSG00000111642 [Q14839-1]
ENST00000645095; ENSP00000496634; ENSG00000111642 [Q14839-2]
GeneIDi1108
KEGGihsa:1108
UCSCiuc001qpo.4 human [Q14839-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X86691 mRNA Translation: CAA60384.1
AC006064 Genomic DNA No translation available.
BC038596 mRNA Translation: AAH38596.1
CCDSiCCDS8552.1 [Q14839-1]
RefSeqiNP_001264.2, NM_001273.3 [Q14839-1]
NP_001284482.1, NM_001297553.1
XP_006719021.1, XM_006718958.1 [Q14839-2]
UniGeneiHs.162233

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1MM2NMR-A446-501[»]
1MM3NMR-A446-501[»]
2EE1NMR-A618-674[»]
2L5UNMR-A365-420[»]
2L75NMR-A446-501[»]
2N5NNMR-A145-225[»]
4O9IX-ray2.60X499-677[»]
6BGGNMR-A290-301[»]
ProteinModelPortaliQ14839
SMRiQ14839
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107533, 153 interactors
ComplexPortaliCPX-880 MBD2/NuRD nucleosome remodeling and deacetylase complex
CPX-922 MBD3/NuRD nucleosome remodeling and deacetylase complex
CORUMiQ14839
DIPiDIP-31183N
IntActiQ14839, 61 interactors
MINTiQ14839
STRINGi9606.ENSP00000349508

PTM databases

iPTMnetiQ14839
PhosphoSitePlusiQ14839
SwissPalmiQ14839

Polymorphism and mutation databases

BioMutaiCHD4
DMDMi311033360

Proteomic databases

EPDiQ14839
MaxQBiQ14839
PaxDbiQ14839
PeptideAtlasiQ14839
PRIDEiQ14839
ProteomicsDBi60204
60205 [Q14839-2]

Protocols and materials databases

DNASUi1108
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000544040; ENSP00000440542; ENSG00000111642 [Q14839-1]
ENST00000645095; ENSP00000496634; ENSG00000111642 [Q14839-2]
GeneIDi1108
KEGGihsa:1108
UCSCiuc001qpo.4 human [Q14839-1]

Organism-specific databases

CTDi1108
DisGeNETi1108
EuPathDBiHostDB:ENSG00000111642.14
GeneCardsiCHD4
H-InvDBiHIX0201859
HGNCiHGNC:1919 CHD4
MalaCardsiCHD4
MIMi603277 gene
617159 phenotype
neXtProtiNX_Q14839
OpenTargetsiENSG00000111642
PharmGKBiPA26455
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0383 Eukaryota
COG0553 LUCA
GeneTreeiENSGT00760000119067
HOGENOMiHOG000231124
HOVERGENiHBG005326
InParanoidiQ14839
KOiK11643
PhylomeDBiQ14839
TreeFamiTF106448

Enzyme and pathway databases

ReactomeiR-HSA-3214815 HDACs deacetylate histones
R-HSA-427389 ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
R-HSA-6804758 Regulation of TP53 Activity through Acetylation
R-HSA-73762 RNA Polymerase I Transcription Initiation
R-HSA-8943724 Regulation of PTEN gene transcription
SIGNORiQ14839

Miscellaneous databases

ChiTaRSiCHD4 human
EvolutionaryTraceiQ14839
GeneWikiiCHD4
GenomeRNAii1108
PMAP-CutDBiQ14839
PROiPR:Q14839
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000111642 Expressed in 236 organ(s), highest expression level in testis
CleanExiHS_CHD4
ExpressionAtlasiQ14839 baseline and differential
GenevisibleiQ14839 HS

Family and domain databases

CDDicd00024 CHROMO, 2 hits
cd00079 HELICc, 1 hit
Gene3Di3.30.40.10, 2 hits
3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR012957 CHD_C2
IPR012958 CHD_N
IPR016197 Chromo-like_dom_sf
IPR000953 Chromo/chromo_shadow_dom
IPR023780 Chromo_domain
IPR002464 DNA/RNA_helicase_DEAH_CS
IPR009462 DUF1086
IPR009463 DUF1087
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
IPR019786 Zinc_finger_PHD-type_CS
IPR011011 Znf_FYVE_PHD
IPR001965 Znf_PHD
IPR019787 Znf_PHD-finger
IPR013083 Znf_RING/FYVE/PHD
PfamiView protein in Pfam
PF08074 CHDCT2, 1 hit
PF08073 CHDNT, 1 hit
PF00385 Chromo, 1 hit
PF06461 DUF1086, 1 hit
PF06465 DUF1087, 1 hit
PF00271 Helicase_C, 1 hit
PF00628 PHD, 2 hits
PF00176 SNF2_N, 1 hit
SMARTiView protein in SMART
SM00298 CHROMO, 2 hits
SM00487 DEXDc, 1 hit
SM01146 DUF1086, 1 hit
SM01147 DUF1087, 1 hit
SM00490 HELICc, 1 hit
SM00249 PHD, 2 hits
SUPFAMiSSF52540 SSF52540, 2 hits
SSF54160 SSF54160, 2 hits
SSF57903 SSF57903, 1 hit
PROSITEiView protein in PROSITE
PS00598 CHROMO_1, 2 hits
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
ProtoNetiSearch...

Entry informationi

Entry nameiCHD4_HUMAN
AccessioniPrimary (citable) accession number: Q14839
Secondary accession number(s): Q8IXZ5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: November 2, 2010
Last modified: November 7, 2018
This is version 208 of the entry and version 2 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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