UniProtKB - Q12873 (CHD3_HUMAN)
Chromodomain-helicase-DNA-binding protein 3
CHD3
Functioni
Component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin by deacetylating histones (PubMed:9804427, PubMed:30397230).
Involved in transcriptional repressiobn as part of the NuRD complex (PubMed:27068747).
Required for anchoring centrosomal pericentrin in both interphase and mitosis, for spindle organization and centrosome integrity (PubMed:17626165).
4 PublicationsMiscellaneous
Catalytic activityi
- EC:3.6.4.121 Publication
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 379 – 426 | PHD-type 1PROSITE-ProRule annotationAdd BLAST | 48 | |
Zinc fingeri | 456 – 503 | PHD-type 2PROSITE-ProRule annotationAdd BLAST | 48 | |
Nucleotide bindingi | 761 – 768 | ATPPROSITE-ProRule annotation | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- ATP-dependent chromatin remodeler activity Source: GO_Central
- ATP hydrolysis activity Source: RHEA
- DNA binding Source: ProtInc
- DNA helicase activity Source: UniProtKB-EC
- helicase activity Source: UniProtKB
- RNA binding Source: UniProtKB
- transcription cis-regulatory region binding Source: UniProtKB
- zinc ion binding Source: ProtInc
GO - Biological processi
- centrosome cycle Source: UniProtKB
- chromatin assembly or disassembly Source: Ensembl
- chromatin remodeling Source: ComplexPortal
- histone deacetylation Source: ComplexPortal
- negative regulation of transcription, DNA-templated Source: ComplexPortal
- negative regulation of transcription by RNA polymerase II Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: ComplexPortal
- regulation of cell fate specification Source: ComplexPortal
- regulation of stem cell differentiation Source: ComplexPortal
- regulation of transcription, DNA-templated Source: UniProtKB
- spindle organization Source: UniProtKB
Keywordsi
Molecular function | Chromatin regulator, DNA-binding, Helicase, Hydrolase |
Biological process | Host-virus interaction, Transcription, Transcription regulation |
Ligand | ATP-binding, Metal-binding, Nucleotide-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q12873 |
Reactomei | R-HSA-3214815, HDACs deacetylate histones R-HSA-427389, ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression R-HSA-4551638, SUMOylation of chromatin organization proteins 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 R-HSA-9679191, Potential therapeutics for SARS |
SignaLinki | Q12873 |
SIGNORi | Q12873 |
Protein family/group databases
MoonDBi | Q12873, Predicted |
Names & Taxonomyi
Protein namesi | Recommended name: Chromodomain-helicase-DNA-binding protein 3 (EC:3.6.4.121 Publication)Short name: CHD-3 Alternative name(s): ATP-dependent helicase CHD3 Mi-2 autoantigen 240 kDa protein Mi2-alpha Zinc finger helicase Short name: hZFH |
Gene namesi | Name:CHD3 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:1918, CHD3 |
MIMi | 602120, gene |
neXtProti | NX_Q12873 |
VEuPathDBi | HostDB:ENSG00000170004 |
Subcellular locationi
Nucleus
Cytoskeleton
- centrosome 1 Publication
Note: Associates with centrosomes in interphase and mitosis.1 Publication
Cytoskeleton
- centriolar satellite Source: HPA
- centrosome Source: UniProtKB
Nucleus
- nucleolus Source: HPA
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
- NuRD complex Source: BHF-UCL
- PML body Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, Cytoskeleton, NucleusPathology & Biotechi
Involvement in diseasei
Snijders Blok-Campeau syndrome (SNIBCPS)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081506 | 457 – 2000 | Missing in SNIBCPS. 1 PublicationAdd BLAST | 1544 | |
Natural variantiVAR_081507 | 886 | H → R in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567855081EnsemblClinVar. | 1 | |
Natural variantiVAR_081508 | 915 | L → F in SNIBCPS; increased function in chromatin remodeling. 1 PublicationCorresponds to variant dbSNP:rs1567855669EnsemblClinVar. | 1 | |
Natural variantiVAR_081509 | 921 | E → K in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567855704EnsemblClinVar. | 1 | |
Natural variantiVAR_081510 | 961 | G → E in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567856045EnsemblClinVar. | 1 | |
Natural variantiVAR_081511 | 985 | R → Q in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567856331EnsemblClinVar. | 1 | |
Natural variantiVAR_081512 | 985 | R → W in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1555611722EnsemblClinVar. | 1 | |
Natural variantiVAR_081513 | 1109 | Missing in SNIBCPS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1567859975Ensembl. | 1 | |
Natural variantiVAR_081514 | 1120 | D → H in SNIBCPS; the patient also carries a truncating variant in CIC; both variants may contribute to disease phenotype. 1 Publication | 1 | |
Natural variantiVAR_081515 | 1121 | R → P in SNIBCPS; decreased function in chromatin remodeling; decreased ATPase activity. 1 PublicationCorresponds to variant dbSNP:rs1567860112EnsemblClinVar. | 1 | |
Natural variantiVAR_081516 | 1136 | T → I in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567860640EnsemblClinVar. | 1 | |
Natural variantiVAR_081517 | 1158 | W → R in SNIBCPS; highly decreased function in chromatin remodeling. 1 PublicationCorresponds to variant dbSNP:rs1567860891EnsemblClinVar. | 1 | |
Natural variantiVAR_081518 | 1159 | N → K in SNIBCPS; highly decreased function in chromatin remodeling. 1 PublicationCorresponds to variant dbSNP:rs754919272EnsemblClinVar. | 1 | |
Natural variantiVAR_081519 | 1161 | H → R in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567860919EnsemblClinVar. | 1 | |
Natural variantiVAR_081520 | 1169 | R → W in SNIBCPS. 2 PublicationsCorresponds to variant dbSNP:rs1567861468EnsemblClinVar. | 1 | |
Natural variantiVAR_081521 | 1171 | H → R in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567861489EnsemblClinVar. | 1 | |
Natural variantiVAR_081522 | 1172 | R → Q in SNIBCPS; decreased function in chromatin remodeling; decreased ATPase activity. 1 PublicationCorresponds to variant dbSNP:rs1567861501EnsemblClinVar. | 1 | |
Natural variantiVAR_081523 | 1187 | R → P in SNIBCPS; unknown pathological significance; does not affect function in chromatin remodeling; no effect on ATPase activity. 1 PublicationCorresponds to variant dbSNP:rs1567861571EnsemblClinVar. | 1 | |
Natural variantiVAR_081524 | 1236 | L → P in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567861894EnsemblClinVar. | 1 | |
Natural variantiVAR_081525 | 1342 | R → Q in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567863732EnsemblClinVar. | 1 | |
Natural variantiVAR_081526 | 1881 | R → L in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567877108EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 1971 | K → R: Abolishes sumoylation by ZBED1/hDREF and increases binding to chromatin. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 1107 |
MalaCardsi | CHD3 |
MIMi | 618205, phenotype |
OpenTargetsi | ENSG00000170004 |
PharmGKBi | PA26454 |
Miscellaneous databases
Pharosi | Q12873, Tbio |
Genetic variation databases
BioMutai | CHD3 |
DMDMi | 88911273 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000080227 | 1 – 2000 | Chromodomain-helicase-DNA-binding protein 3Add BLAST | 2000 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 79 | PhosphoserineCombined sources | 1 | |
Cross-linki | 120 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity | ||
Cross-linki | 163 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity | ||
Cross-linki | 295 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity | ||
Cross-linki | 302 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity | ||
Modified residuei | 308 | PhosphoserineBy similarity | 1 | |
Modified residuei | 324 | PhosphoserineCombined sources | 1 | |
Modified residuei | 376 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 597 | PhosphoserineCombined sources | 1 | |
Cross-linki | 627 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 713 | PhosphoserineCombined sources | 1 | |
Cross-linki | 721 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources | ||
Cross-linki | 721 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateBy similarity | ||
Modified residuei | 1219 | PhosphoserineBy similarity | 1 | |
Cross-linki | 1222 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity | ||
Cross-linki | 1238 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity | ||
Cross-linki | 1246 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity | ||
Cross-linki | 1308 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 1367 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1532 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1538 | PhosphoserineBy similarity | 1 | |
Cross-linki | 1573 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity | ||
Cross-linki | 1585 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity | ||
Modified residuei | 1601 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1605 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1646 | PhosphothreonineCombined sources | 1 | |
Cross-linki | 1876 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity | ||
Cross-linki | 1971 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)1 Publication | ||
Cross-linki | 1988 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources |
Post-translational modificationi
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q12873 |
jPOSTi | Q12873 |
MassIVEi | Q12873 |
MaxQBi | Q12873 |
PaxDbi | Q12873 |
PeptideAtlasi | Q12873 |
PRIDEi | Q12873 |
ProteomicsDBi | 20268 58995 [Q12873-1] 58996 [Q12873-2] |
PTM databases
GlyGeni | Q12873, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q12873 |
MetOSitei | Q12873 |
PhosphoSitePlusi | Q12873 |
SwissPalmi | Q12873 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000170004, Expressed in cortical plate and 228 other tissues |
ExpressionAtlasi | Q12873, baseline and differential |
Genevisiblei | Q12873, HS |
Organism-specific databases
HPAi | ENSG00000170004, Low tissue specificity |
Interactioni
Subunit structurei
Central component of the nucleosome remodeling and histone deacetylase (NuRD) repressive complex (PubMed:9804427, PubMed:27068747).
Interacts with TRIM28 (PubMed:11230151).
Interacts with SERBP1 (PubMed:12505151).
Interacts (via its C-terminal) with HABP4 (PubMed:12505151).
Interacts with PCNT; the interaction regulates centrosome integrity (PubMed:17626165).
Interacts with ZBED1/hDREF (PubMed:27068747).
5 Publications(Microbial infection) Interacts with Hantaan hantavirus nucleoprotein.
1 Publication(Microbial infection) Interacts with Seoul hantavirus nucleoprotein.
1 PublicationBinary interactionsi
Q12873
Protein-protein interaction databases
BioGRIDi | 107532, 715 interactors |
ComplexPortali | CPX-880, MBD2/NuRD nucleosome remodeling and deacetylase complex CPX-922, MBD3/NuRD nucleosome remodeling and deacetylase complex |
CORUMi | Q12873 |
DIPi | DIP-32496N |
ELMi | Q12873 |
IntActi | Q12873, 157 interactors |
MINTi | Q12873 |
STRINGi | 9606.ENSP00000369716 |
Miscellaneous databases
RNActi | Q12873, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 494 – 594 | Chromo 1PROSITE-ProRule annotationAdd BLAST | 101 | |
Domaini | 631 – 673 | Chromo 2PROSITE-ProRule annotationAdd BLAST | 43 | |
Domaini | 748 – 932 | Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST | 185 | |
Domaini | 1064 – 1229 | Helicase C-terminalPROSITE-ProRule annotationAdd BLAST | 166 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 23 – 133 | DisorderedSequence analysisAdd BLAST | 111 | |
Regioni | 231 – 359 | DisorderedSequence analysisAdd BLAST | 129 | |
Regioni | 431 – 452 | DisorderedSequence analysisAdd BLAST | 22 | |
Regioni | 523 – 542 | DisorderedSequence analysisAdd BLAST | 20 | |
Regioni | 587 – 611 | DisorderedSequence analysisAdd BLAST | 25 | |
Regioni | 692 – 721 | DisorderedSequence analysisAdd BLAST | 30 | |
Regioni | 1349 – 1399 | DisorderedSequence analysisAdd BLAST | 51 | |
Regioni | 1513 – 1707 | DisorderedSequence analysisAdd BLAST | 195 | |
Regioni | 1566 – 1966 | Required for interaction with PCNT1 PublicationAdd BLAST | 401 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 883 – 886 | DEAH box | 4 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 30 – 44 | Basic and acidic residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 45 – 67 | Basic residuesSequence analysisAdd BLAST | 23 | |
Compositional biasi | 68 – 90 | Basic and acidic residuesSequence analysisAdd BLAST | 23 | |
Compositional biasi | 100 – 117 | Basic residuesSequence analysisAdd BLAST | 18 | |
Compositional biasi | 236 – 252 | Pro residuesSequence analysisAdd BLAST | 17 | |
Compositional biasi | 262 – 290 | Basic residuesSequence analysisAdd BLAST | 29 | |
Compositional biasi | 433 – 452 | Acidic residuesSequence analysisAdd BLAST | 20 | |
Compositional biasi | 692 – 707 | Basic and acidic residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 1376 – 1396 | Basic and acidic residuesSequence analysisAdd BLAST | 21 | |
Compositional biasi | 1525 – 1556 | Polar residuesSequence analysisAdd BLAST | 32 | |
Compositional biasi | 1566 – 1595 | Basic and acidic residuesSequence analysisAdd BLAST | 30 | |
Compositional biasi | 1631 – 1707 | Basic and acidic residuesSequence analysisAdd BLAST | 77 |
Sequence similaritiesi
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 379 – 426 | PHD-type 1PROSITE-ProRule annotationAdd BLAST | 48 | |
Zinc fingeri | 456 – 503 | PHD-type 2PROSITE-ProRule annotationAdd BLAST | 48 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG0383, Eukaryota |
GeneTreei | ENSGT00940000158001 |
HOGENOMi | CLU_000315_22_2_1 |
InParanoidi | Q12873 |
OMAi | MIRKPVE |
OrthoDBi | 54215at2759 |
PhylomeDBi | Q12873 |
TreeFami | TF106448 |
Family and domain databases
Gene3Di | 1.10.30.10, 1 hit 3.30.40.10, 2 hits 3.40.50.10810, 1 hit 3.40.50.300, 1 hit |
InterProi | View protein in InterPro IPR012957, CHD_C2 IPR009462, CHD_II_SANT-like IPR012958, CHD_N IPR016197, Chromo-like_dom_sf IPR000953, Chromo/chromo_shadow_dom IPR023780, Chromo_domain IPR023779, Chromodomain_CS IPR002464, DNA/RNA_helicase_DEAH_CS IPR009463, DUF1087 IPR014001, Helicase_ATP-bd IPR001650, Helicase_C IPR036910, HMG_box_dom_sf 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 |
Pfami | View 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-rel_dom, 1 hit |
SMARTi | View 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 |
SUPFAMi | SSF47095, SSF47095, 1 hit SSF52540, SSF52540, 2 hits SSF54160, SSF54160, 2 hits SSF57903, SSF57903, 1 hit |
PROSITEi | View protein in PROSITE PS00598, CHROMO_1, 1 hit 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 |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MKAADTVILW ARSKNDQLRI SFPPGLCWGD RMPDKDDIRL LPSALGVKKR
60 70 80 90 100
KRGPKKQKEN KPGKPRKRKK RDSEEEFGSE RDEYREKSES GGSEYGTGPG
110 120 130 140 150
RKRRRKHREK KEKKTKRRKK GEGDGGQKQV EQKSSATLLL TWGLEDVEHV
160 170 180 190 200
FSEEDYHTLT NYKAFSQFMR PLIAKKNPKI PMSKMMTILG AKWREFSANN
210 220 230 240 250
PFKGSAAAVA AAAAAAAAAV AEQVSAAVSS ATPIAPSGPP ALPPPPAADI
260 270 280 290 300
QPPPIRRAKT KEGKGPGHKR RSKSPRVPDG RKKLRGKKMA PLKIKLGLLG
310 320 330 340 350
GKRKKGGSYV FQSDEGPEPE AEESDLDSGS VHSASGRPDG PVRTKKLKRG
360 370 380 390 400
RPGRKKKKVL GCPAVAGEEE VDGYETDHQD YCEVCQQGGE IILCDTCPRA
410 420 430 440 450
YHLVCLDPEL DRAPEGKWSC PHCEKEGVQW EAKEEEEEYE EEGEEEGEKE
460 470 480 490 500
EEDDHMEYCR VCKDGGELLC CDACISSYHI HCLNPPLPDI PNGEWLCPRC
510 520 530 540 550
TCPVLKGRVQ KILHWRWGEP PVAVPAPQQA DGNPDVPPPR PLQGRSEREF
560 570 580 590 600
FVKWVGLSYW HCSWAKELQL EIFHLVMYRN YQRKNDMDEP PPLDYGSGED
610 620 630 640 650
DGKSDKRKVK DPHYAEMEEK YYRFGIKPEW MTVHRIINHS VDKKGNYHYL
660 670 680 690 700
VKWRDLPYDQ STWEEDEMNI PEYEEHKQSY WRHRELIMGE DPAQPRKYKK
710 720 730 740 750
KKKELQGDGP PSSPTNDPTV KYETQPRFIT ATGGTLHMYQ LEGLNWLRFS
760 770 780 790 800
WAQGTDTILA DEMGLGKTIQ TIVFLYSLYK EGHTKGPFLV SAPLSTIINW
810 820 830 840 850
EREFQMWAPK FYVVTYTGDK DSRAIIRENE FSFEDNAIKG GKKAFKMKRE
860 870 880 890 900
AQVKFHVLLT SYELITIDQA ALGSIRWACL VVDEAHRLKN NQSKFFRVLN
910 920 930 940 950
GYKIDHKLLL TGTPLQNNLE ELFHLLNFLT PERFNNLEGF LEEFADISKE
960 970 980 990 1000
DQIKKLHDLL GPHMLRRLKA DVFKNMPAKT ELIVRVELSP MQKKYYKYIL
1010 1020 1030 1040 1050
TRNFEALNSR GGGNQVSLLN IMMDLKKCCN HPYLFPVAAM ESPKLPSGAY
1060 1070 1080 1090 1100
EGGALIKSSG KLMLLQKMLR KLKEQGHRVL IFSQMTKMLD LLEDFLDYEG
1110 1120 1130 1140 1150
YKYERIDGGI TGALRQEAID RFNAPGAQQF CFLLSTRAGG LGINLATADT
1160 1170 1180 1190 1200
VIIFDSDWNP HNDIQAFSRA HRIGQANKVM IYRFVTRASV EERITQVAKR
1210 1220 1230 1240 1250
KMMLTHLVVR PGLGSKAGSM SKQELDDILK FGTEELFKDE NEGENKEEDS
1260 1270 1280 1290 1300
SVIHYDNEAI ARLLDRNQDA TEDTDVQNMN EYLSSFKVAQ YVVREEDKIE
1310 1320 1330 1340 1350
EIEREIIKQE ENVDPDYWEK LLRHHYEQQQ EDLARNLGKG KRVRKQVNYN
1360 1370 1380 1390 1400
DAAQEDQDNQ SEYSVGSEEE DEDFDERPEG RRQSKRQLRN EKDKPLPPLL
1410 1420 1430 1440 1450
ARVGGNIEVL GFNTRQRKAF LNAVMRWGMP PQDAFTTQWL VRDLRGKTEK
1460 1470 1480 1490 1500
EFKAYVSLFM RHLCEPGADG SETFADGVPR EGLSRQQVLT RIGVMSLVKK
1510 1520 1530 1540 1550
KVQEFEHING RWSMPELMPD PSADSKRSSR ASSPTKTSPT TPEASATNSP
1560 1570 1580 1590 1600
CTSKPATPAP SEKGEGIRTP LEKEEAENQE EKPEKNSRIG EKMETEADAP
1610 1620 1630 1640 1650
SPAPSLGERL EPRKIPLEDE VPGVPGEMEP EPGYRGDREK SATESTPGER
1660 1670 1680 1690 1700
GEEKPLDGQE HRERPEGETG DLGKREDVKG DRELRPGPRD EPRSNGRREE
1710 1720 1730 1740 1750
KTEKPRFMFN IADGGFTELH TLWQNEERAA ISSGKLNEIW HRRHDYWLLA
1760 1770 1780 1790 1800
GIVLHGYARW QDIQNDAQFA IINEPFKTEA NKGNFLEMKN KFLARRFKLL
1810 1820 1830 1840 1850
EQALVIEEQL RRAAYLNLSQ EPAHPAMALH ARFAEAECLA ESHQHLSKES
1860 1870 1880 1890 1900
LAGNKPANAV LHKVLNQLEE LLSDMKADVT RLPATLSRIP PIAARLQMSE
1910 1920 1930 1940 1950
RSILSRLASK GTEPHPTPAY PPGPYATPPG YGAAFSAAPV GALAAAGANY
1960 1970 1980 1990 2000
SQMPAGSFIT AATNGPPVLV KKEKEMVGAL VSDGLDRKEP RAGEVICIDD
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A5F9ZHX5 | A0A5F9ZHX5_HUMAN | DNA helicase | CHD3 | 1,357 | Annotation score: | ||
H7C2H0 | H7C2H0_HUMAN | Chromodomain-helicase-DNA-binding p... | CHD3 | 525 | Annotation score: | ||
H7C0J3 | H7C0J3_HUMAN | Chromodomain-helicase-DNA-binding p... | CHD3 | 383 | Annotation score: | ||
H7C3H7 | H7C3H7_HUMAN | Chromodomain-helicase-DNA-binding p... | CHD3 | 277 | Annotation score: | ||
A0A5F9ZHM2 | A0A5F9ZHM2_HUMAN | Chromodomain-helicase-DNA-binding p... | CHD3 | 188 | Annotation score: | ||
I3L229 | I3L229_HUMAN | Chromodomain-helicase-DNA-binding p... | CHD3 | 249 | Annotation score: | ||
I3L1I4 | I3L1I4_HUMAN | Chromodomain-helicase-DNA-binding p... | CHD3 | 110 | Annotation score: | ||
K7EPV1 | K7EPV1_HUMAN | Chromodomain-helicase-DNA-binding p... | CHD3 | 63 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 121 – 126 | GEGDGG → PHFQQK in AAC50228 (PubMed:7560064).Curated | 6 | |
Sequence conflicti | 309 – 312 | Missing in AAC50228 (PubMed:7560064).Curated | 4 | |
Sequence conflicti | 653 | W → G in AAC50228 (PubMed:7560064).Curated | 1 | |
Sequence conflicti | 1704 | K → N in AAC39923 (PubMed:9688266).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_048728 | 3 | A → V. Corresponds to variant dbSNP:rs931543Ensembl. | 1 | |
Natural variantiVAR_081506 | 457 – 2000 | Missing in SNIBCPS. 1 PublicationAdd BLAST | 1544 | |
Natural variantiVAR_081507 | 886 | H → R in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567855081EnsemblClinVar. | 1 | |
Natural variantiVAR_081508 | 915 | L → F in SNIBCPS; increased function in chromatin remodeling. 1 PublicationCorresponds to variant dbSNP:rs1567855669EnsemblClinVar. | 1 | |
Natural variantiVAR_081509 | 921 | E → K in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567855704EnsemblClinVar. | 1 | |
Natural variantiVAR_081510 | 961 | G → E in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567856045EnsemblClinVar. | 1 | |
Natural variantiVAR_081511 | 985 | R → Q in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567856331EnsemblClinVar. | 1 | |
Natural variantiVAR_081512 | 985 | R → W in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1555611722EnsemblClinVar. | 1 | |
Natural variantiVAR_081513 | 1109 | Missing in SNIBCPS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1567859975Ensembl. | 1 | |
Natural variantiVAR_081514 | 1120 | D → H in SNIBCPS; the patient also carries a truncating variant in CIC; both variants may contribute to disease phenotype. 1 Publication | 1 | |
Natural variantiVAR_081515 | 1121 | R → P in SNIBCPS; decreased function in chromatin remodeling; decreased ATPase activity. 1 PublicationCorresponds to variant dbSNP:rs1567860112EnsemblClinVar. | 1 | |
Natural variantiVAR_081516 | 1136 | T → I in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567860640EnsemblClinVar. | 1 | |
Natural variantiVAR_081517 | 1158 | W → R in SNIBCPS; highly decreased function in chromatin remodeling. 1 PublicationCorresponds to variant dbSNP:rs1567860891EnsemblClinVar. | 1 | |
Natural variantiVAR_081518 | 1159 | N → K in SNIBCPS; highly decreased function in chromatin remodeling. 1 PublicationCorresponds to variant dbSNP:rs754919272EnsemblClinVar. | 1 | |
Natural variantiVAR_081519 | 1161 | H → R in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567860919EnsemblClinVar. | 1 | |
Natural variantiVAR_081520 | 1169 | R → W in SNIBCPS. 2 PublicationsCorresponds to variant dbSNP:rs1567861468EnsemblClinVar. | 1 | |
Natural variantiVAR_081521 | 1171 | H → R in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567861489EnsemblClinVar. | 1 | |
Natural variantiVAR_081522 | 1172 | R → Q in SNIBCPS; decreased function in chromatin remodeling; decreased ATPase activity. 1 PublicationCorresponds to variant dbSNP:rs1567861501EnsemblClinVar. | 1 | |
Natural variantiVAR_081523 | 1187 | R → P in SNIBCPS; unknown pathological significance; does not affect function in chromatin remodeling; no effect on ATPase activity. 1 PublicationCorresponds to variant dbSNP:rs1567861571EnsemblClinVar. | 1 | |
Natural variantiVAR_081524 | 1236 | L → P in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567861894EnsemblClinVar. | 1 | |
Natural variantiVAR_081525 | 1342 | R → Q in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567863732EnsemblClinVar. | 1 | |
Natural variantiVAR_081526 | 1881 | R → L in SNIBCPS. 1 PublicationCorresponds to variant dbSNP:rs1567877108EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_047097 | 1 – 32 | MKAAD…WGDRM → MASPLRDEEEEEEEMVVSEE EEEEEEEGDEEEEEEVEAAD EDDEEDDDEGVLGRGPGHDR GRDRHSPPGCHLFPPPPPPP PPLPPPPPPPP in isoform 3. CuratedAdd BLAST | 32 | |
Alternative sequenceiVSP_017231 | 1642 – 1675 | Missing in isoform 2. 2 PublicationsAdd BLAST | 34 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U91543 mRNA Translation: AAC39923.1 AC104581 Genomic DNA No translation available. CH471108 Genomic DNA Translation: EAW90114.1 CH471108 Genomic DNA Translation: EAW90116.1 AF006515 mRNA Translation: AAB87383.1 Different termination. U08379 mRNA Translation: AAC50228.1 |
CCDSi | CCDS32553.2 [Q12873-3] CCDS32554.1 [Q12873-1] CCDS32555.1 [Q12873-2] |
RefSeqi | NP_001005271.2, NM_001005271.2 [Q12873-3] NP_001005273.1, NM_001005273.2 [Q12873-1] NP_005843.2, NM_005852.3 [Q12873-2] |
Genome annotation databases
Ensembli | ENST00000330494.12; ENSP00000332628.7; ENSG00000170004.18 ENST00000358181.8; ENSP00000350907.4; ENSG00000170004.18 [Q12873-2] ENST00000380358.9; ENSP00000369716.4; ENSG00000170004.18 [Q12873-3] |
GeneIDi | 1107 |
KEGGi | hsa:1107 |
MANE-Selecti | ENST00000330494.12; ENSP00000332628.7; NM_001005273.3; NP_001005273.1 |
UCSCi | uc002gjd.3, human [Q12873-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U91543 mRNA Translation: AAC39923.1 AC104581 Genomic DNA No translation available. CH471108 Genomic DNA Translation: EAW90114.1 CH471108 Genomic DNA Translation: EAW90116.1 AF006515 mRNA Translation: AAB87383.1 Different termination. U08379 mRNA Translation: AAC50228.1 |
CCDSi | CCDS32553.2 [Q12873-3] CCDS32554.1 [Q12873-1] CCDS32555.1 [Q12873-2] |
RefSeqi | NP_001005271.2, NM_001005271.2 [Q12873-3] NP_001005273.1, NM_001005273.2 [Q12873-1] NP_005843.2, NM_005852.3 [Q12873-2] |
3D structure databases
AlphaFoldDBi | Q12873 |
SMRi | Q12873 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 107532, 715 interactors |
ComplexPortali | CPX-880, MBD2/NuRD nucleosome remodeling and deacetylase complex CPX-922, MBD3/NuRD nucleosome remodeling and deacetylase complex |
CORUMi | Q12873 |
DIPi | DIP-32496N |
ELMi | Q12873 |
IntActi | Q12873, 157 interactors |
MINTi | Q12873 |
STRINGi | 9606.ENSP00000369716 |
Protein family/group databases
MoonDBi | Q12873, Predicted |
PTM databases
GlyGeni | Q12873, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q12873 |
MetOSitei | Q12873 |
PhosphoSitePlusi | Q12873 |
SwissPalmi | Q12873 |
Genetic variation databases
BioMutai | CHD3 |
DMDMi | 88911273 |
Proteomic databases
EPDi | Q12873 |
jPOSTi | Q12873 |
MassIVEi | Q12873 |
MaxQBi | Q12873 |
PaxDbi | Q12873 |
PeptideAtlasi | Q12873 |
PRIDEi | Q12873 |
ProteomicsDBi | 20268 58995 [Q12873-1] 58996 [Q12873-2] |
Protocols and materials databases
ABCDi | Q12873, 1 sequenced antibody |
Antibodypediai | 12273, 304 antibodies from 38 providers |
DNASUi | 1107 |
Genome annotation databases
Ensembli | ENST00000330494.12; ENSP00000332628.7; ENSG00000170004.18 ENST00000358181.8; ENSP00000350907.4; ENSG00000170004.18 [Q12873-2] ENST00000380358.9; ENSP00000369716.4; ENSG00000170004.18 [Q12873-3] |
GeneIDi | 1107 |
KEGGi | hsa:1107 |
MANE-Selecti | ENST00000330494.12; ENSP00000332628.7; NM_001005273.3; NP_001005273.1 |
UCSCi | uc002gjd.3, human [Q12873-1] |
Organism-specific databases
CTDi | 1107 |
DisGeNETi | 1107 |
GeneCardsi | CHD3 |
HGNCi | HGNC:1918, CHD3 |
HPAi | ENSG00000170004, Low tissue specificity |
MalaCardsi | CHD3 |
MIMi | 602120, gene 618205, phenotype |
neXtProti | NX_Q12873 |
OpenTargetsi | ENSG00000170004 |
PharmGKBi | PA26454 |
VEuPathDBi | HostDB:ENSG00000170004 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0383, Eukaryota |
GeneTreei | ENSGT00940000158001 |
HOGENOMi | CLU_000315_22_2_1 |
InParanoidi | Q12873 |
OMAi | MIRKPVE |
OrthoDBi | 54215at2759 |
PhylomeDBi | Q12873 |
TreeFami | TF106448 |
Enzyme and pathway databases
PathwayCommonsi | Q12873 |
Reactomei | R-HSA-3214815, HDACs deacetylate histones R-HSA-427389, ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression R-HSA-4551638, SUMOylation of chromatin organization proteins 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 R-HSA-9679191, Potential therapeutics for SARS |
SignaLinki | Q12873 |
SIGNORi | Q12873 |
Miscellaneous databases
BioGRID-ORCSi | 1107, 14 hits in 1097 CRISPR screens |
ChiTaRSi | CHD3, human |
GeneWikii | CHD3 |
GenomeRNAii | 1107 |
Pharosi | Q12873, Tbio |
PROi | PR:Q12873 |
RNActi | Q12873, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000170004, Expressed in cortical plate and 228 other tissues |
ExpressionAtlasi | Q12873, baseline and differential |
Genevisiblei | Q12873, HS |
Family and domain databases
Gene3Di | 1.10.30.10, 1 hit 3.30.40.10, 2 hits 3.40.50.10810, 1 hit 3.40.50.300, 1 hit |
InterProi | View protein in InterPro IPR012957, CHD_C2 IPR009462, CHD_II_SANT-like IPR012958, CHD_N IPR016197, Chromo-like_dom_sf IPR000953, Chromo/chromo_shadow_dom IPR023780, Chromo_domain IPR023779, Chromodomain_CS IPR002464, DNA/RNA_helicase_DEAH_CS IPR009463, DUF1087 IPR014001, Helicase_ATP-bd IPR001650, Helicase_C IPR036910, HMG_box_dom_sf 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 |
Pfami | View 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-rel_dom, 1 hit |
SMARTi | View 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 |
SUPFAMi | SSF47095, SSF47095, 1 hit SSF52540, SSF52540, 2 hits SSF54160, SSF54160, 2 hits SSF57903, SSF57903, 1 hit |
PROSITEi | View protein in PROSITE PS00598, CHROMO_1, 1 hit 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 |
MobiDBi | Search... |
Entry informationi
Entry namei | CHD3_HUMAN | |
Accessioni | Q12873Primary (citable) accession number: Q12873 Secondary accession number(s): D3DTQ9, E9PG89, Q9Y4I0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1999 |
Last sequence update: | February 7, 2006 | |
Last modified: | May 25, 2022 | |
This is version 222 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families