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Protein

Chromodomain-helicase-DNA-binding protein 1-like

Gene

CHD1L

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

Functioni

DNA helicase which plays a role in chromatin-remodeling following DNA damage. Targeted to sites of DNA damage through interaction with poly(ADP-ribose) and functions to regulate chromatin during DNA repair. Able to catalyze nucleosome sliding in an ATP-dependent manner. Helicase activity is strongly stimulated upon poly(ADP-ribose)-binding.2 Publications

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi71 – 78ATPPROSITE-ProRule annotation8

GO - Molecular functioni

  • ATPase activity Source: UniProtKB
  • ATP binding Source: UniProtKB-KW
  • ATP-dependent DNA helicase activity Source: UniProtKB
  • nucleic acid binding Source: InterPro
  • nucleotide binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Helicase, Hydrolase

Keywords - Biological processi

DNA damage, DNA repair

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-5696395. Formation of Incision Complex in GG-NER.
R-HSA-5696400. Dual Incision in GG-NER.

Names & Taxonomyi

Protein namesi
Recommended name:
Chromodomain-helicase-DNA-binding protein 1-like (EC:3.6.4.12)
Alternative name(s):
Amplified in liver cancer protein 1
Gene namesi
Name:CHD1L
Synonyms:ALC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:1916. CHD1L.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: HPA
  • nucleoplasm Source: HPA
  • nucleus Source: UniProtKB
  • plasma membrane Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi77K → R: Abolishes ATPase activity. 1 Publication1
Mutagenesisi723D → A: Strongly reduces poly(ADP-ribose)-binding but not ATPase activity. 1 Publication1

Organism-specific databases

DisGeNETi9557.
PharmGKBiPA26452.

Polymorphism and mutation databases

BioMutaiCHD1L.
DMDMi311033359.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003321411 – 897Chromodomain-helicase-DNA-binding protein 1-likeAdd BLAST897

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei9Omega-N-methylarginineCombined sources1
Modified residuei540PhosphoserineCombined sources1
Modified residuei607PhosphoserineCombined sources1
Modified residuei618PhosphoserineCombined sources1
Modified residuei628PhosphoserineCombined sources1
Modified residuei636PhosphoserineCombined sources1
Modified residuei891PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ86WJ1.
MaxQBiQ86WJ1.
PaxDbiQ86WJ1.
PeptideAtlasiQ86WJ1.
PRIDEiQ86WJ1.

PTM databases

iPTMnetiQ86WJ1.
PhosphoSitePlusiQ86WJ1.

Expressioni

Tissue specificityi

Frequently overexpressed in hepatomacellular carcinomas.1 Publication

Gene expression databases

BgeeiENSG00000131778.
CleanExiHS_CHD1L.
ExpressionAtlasiQ86WJ1. baseline and differential.
GenevisibleiQ86WJ1. HS.

Organism-specific databases

HPAiHPA027789.
HPA028670.

Interactioni

Subunit structurei

Interacts with PARP1; interacts only when PARP1 is poly-ADP-ribosylated (PARylated).1 Publication

Protein-protein interaction databases

BioGridi114929. 64 interactors.
DIPiDIP-48933N.
IntActiQ86WJ1. 17 interactors.
MINTiMINT-7944527.
STRINGi9606.ENSP00000358262.

Structurei

3D structure databases

ProteinModelPortaliQ86WJ1.
SMRiQ86WJ1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini58 – 223Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST166
Domaini351 – 513Helicase C-terminalPROSITE-ProRule annotationAdd BLAST163
Domaini704 – 897MacroPROSITE-ProRule annotationAdd BLAST194

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili638 – 675Sequence analysisAdd BLAST38

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi174 – 177DEAH box4

Domaini

The macro domain mediates non-covalent poly(ADP-ribose)-binding and recruitment to DNA damage sites.1 Publication

Sequence similaritiesi

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

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG0385. Eukaryota.
COG0553. LUCA.
HOGENOMiHOG000074191.
HOVERGENiHBG077542.
InParanoidiQ86WJ1.
KOiK20092.
OrthoDBiEOG091G023P.
PhylomeDBiQ86WJ1.
TreeFamiTF333326.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR002464. DNA/RNA_helicase_DEAH_CS.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR002589. Macro_dom.
IPR027417. P-loop_NTPase.
IPR000330. SNF2_N.
[Graphical view]
PfamiPF00271. Helicase_C. 1 hit.
PF00176. SNF2_N. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS00690. DEAH_ATP_HELICASE. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
PS51154. MACRO. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86WJ1-1) [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
MERAGATSRG GQAPGFLLRL HTEGRAEAAR VQEQDLRQWG LTGIHLRSYQ
60 70 80 90 100
LEGVNWLAQR FHCQNGCILG DEMGLGKTCQ TIALFIYLAG RLNDEGPFLI
110 120 130 140 150
LCPLSVLSNW KEEMQRFAPG LSCVTYAGDK EERACLQQDL KQESRFHVLL
160 170 180 190 200
TTYEICLKDA SFLKSFPWSV LVVDEAHRLK NQSSLLHKTL SEFSVVFSLL
210 220 230 240 250
LTGTPIQNSL QELYSLLSFV EPDLFSKEEV GDFIQRYQDI EKESESASEL
260 270 280 290 300
HKLLQPFLLR RVKAEVATEL PKKTEVVIYH GMSALQKKYY KAILMKDLDA
310 320 330 340 350
FENETAKKVK LQNILSQLRK CVDHPYLFDG VEPEPFEVGD HLTEASGKLH
360 370 380 390 400
LLDKLLAFLY SGGHRVLLFS QMTQMLDILQ DYMDYRGYSY ERVDGSVRGE
410 420 430 440 450
ERHLAIKNFG QQPIFVFLLS TRAGGVGMNL TAADTVIFVD SDFNPQNDLQ
460 470 480 490 500
AAARAHRIGQ NKSVKVIRLI GRDTVEEIVY RKAASKLQLT NMIIEGGHFT
510 520 530 540 550
LGAQKPAADA DLQLSEILKF GLDKLLASEG STMDEIDLES ILGETKDGQW
560 570 580 590 600
VSDALPAAEG GSRDQEEGKN HMYLFEGKDY SKEPSKEDRK SFEQLVNLQK
610 620 630 640 650
TLLEKASQEG RSLRNKGSVL IPGLVEGSTK RKRVLSPEEL EDRQKKRQEA
660 670 680 690 700
AAKRRRLIEE KKRQKEEAEH KKKMAWWESN NYQSFCLPSE ESEPEDLENG
710 720 730 740 750
EESSAELDYQ DPDATSLKYV SGDVTHPQAG AEDALIVHCV DDSGHWGRGG
760 770 780 790 800
LFTALEKRSA EPRKIYELAG KMKDLSLGGV LLFPVDDKES RNKGQDLLAL
810 820 830 840 850
IVAQHRDRSN VLSGIKMAAL EEGLKKIFLA AKKKKASVHL PRIGHATKGF
860 870 880 890
NWYGTERLIR KHLAARGIPT YIYYFPRSKS AVLHAQSSSS SSRQLVP
Length:897
Mass (Da):100,984
Last modified:November 2, 2010 - v2
Checksum:i226A1F8A5272F9FE
GO
Isoform 2 (identifier: Q86WJ1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     331-424: Missing.

Show »
Length:803
Mass (Da):90,239
Checksum:i946382BEB5C3FE59
GO
Isoform 3 (identifier: Q86WJ1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     43-246: Missing.

Show »
Length:693
Mass (Da):77,739
Checksum:i06F3DA517A960C94
GO
Isoform 4 (identifier: Q86WJ1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-113: Missing.

Show »
Length:784
Mass (Da):88,403
Checksum:i76E431268F87A9D1
GO
Isoform 5 (identifier: Q86WJ1-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-281: Missing.

Note: No experimental confirmation available.
Show »
Length:616
Mass (Da):69,139
Checksum:i34C571CA478C4FC5
GO

Sequence cautioni

The sequence BAB55248 differs from that shown. Reason: Frameshift at position 597.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti192E → EVFE in ABQ59048 (PubMed:17974005).Curated1
Sequence conflicti295M → T in BAG56702 (PubMed:14702039).Curated1
Sequence conflicti379L → P in BAB55248 (PubMed:14702039).Curated1
Sequence conflicti447N → D in BAD97216 (Ref. 6) Curated1
Sequence conflicti597N → S in BAD97216 (Ref. 6) Curated1
Sequence conflicti674M → V in BAA91637 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04295425R → P.1 PublicationCorresponds to variant rs11588753dbSNPEnsembl.1
Natural variantiVAR_042955350H → Q.1 PublicationCorresponds to variant rs17356233dbSNPEnsembl.1
Natural variantiVAR_042956649E → A.Corresponds to variant rs13374920dbSNPEnsembl.1
Natural variantiVAR_042957743S → C.2 PublicationsCorresponds to variant rs2275249dbSNPEnsembl.1
Natural variantiVAR_042958885A → S.Combined sources4 PublicationsCorresponds to variant rs4950394dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0556751 – 281Missing in isoform 5. 1 PublicationAdd BLAST281
Alternative sequenceiVSP_0333401 – 113Missing in isoform 4. 1 PublicationAdd BLAST113
Alternative sequenceiVSP_03334143 – 246Missing in isoform 3. 1 PublicationAdd BLAST204
Alternative sequenceiVSP_033342331 – 424Missing in isoform 2. 1 PublicationAdd BLAST94

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF537213 mRNA. Translation: AAO49505.1.
AK001342 mRNA. Translation: BAA91637.1.
AK027631 mRNA. Translation: BAB55248.1. Frameshift.
AK293157 mRNA. Translation: BAG56702.1.
EF560738 mRNA. Translation: ABQ59048.1.
AL356378 Genomic DNA. Translation: CAH72650.1.
BC001171 mRNA. Translation: AAH01171.1.
BC005038 mRNA. Translation: AAH05038.1.
BC008649 mRNA. Translation: AAH08649.1.
BC043501 mRNA. Translation: AAH43501.1.
BC077717 mRNA. Translation: AAH77717.1.
AK223496 mRNA. Translation: BAD97216.1.
CCDSiCCDS58021.1. [Q86WJ1-3]
CCDS58022.1. [Q86WJ1-5]
CCDS927.1. [Q86WJ1-1]
RefSeqiNP_001243265.1. NM_001256336.1.
NP_001243266.1. NM_001256337.1.
NP_001243267.1. NM_001256338.1.
NP_004275.4. NM_004284.4.
NP_078844.2. NM_024568.2.
UniGeneiHs.191164.

Genome annotation databases

EnsembliENST00000369258; ENSP00000358262; ENSG00000131778.
ENST00000369259; ENSP00000358263; ENSG00000131778.
GeneIDi9557.
KEGGihsa:9557.
UCSCiuc001epm.6. human. [Q86WJ1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF537213 mRNA. Translation: AAO49505.1.
AK001342 mRNA. Translation: BAA91637.1.
AK027631 mRNA. Translation: BAB55248.1. Frameshift.
AK293157 mRNA. Translation: BAG56702.1.
EF560738 mRNA. Translation: ABQ59048.1.
AL356378 Genomic DNA. Translation: CAH72650.1.
BC001171 mRNA. Translation: AAH01171.1.
BC005038 mRNA. Translation: AAH05038.1.
BC008649 mRNA. Translation: AAH08649.1.
BC043501 mRNA. Translation: AAH43501.1.
BC077717 mRNA. Translation: AAH77717.1.
AK223496 mRNA. Translation: BAD97216.1.
CCDSiCCDS58021.1. [Q86WJ1-3]
CCDS58022.1. [Q86WJ1-5]
CCDS927.1. [Q86WJ1-1]
RefSeqiNP_001243265.1. NM_001256336.1.
NP_001243266.1. NM_001256337.1.
NP_001243267.1. NM_001256338.1.
NP_004275.4. NM_004284.4.
NP_078844.2. NM_024568.2.
UniGeneiHs.191164.

3D structure databases

ProteinModelPortaliQ86WJ1.
SMRiQ86WJ1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114929. 64 interactors.
DIPiDIP-48933N.
IntActiQ86WJ1. 17 interactors.
MINTiMINT-7944527.
STRINGi9606.ENSP00000358262.

PTM databases

iPTMnetiQ86WJ1.
PhosphoSitePlusiQ86WJ1.

Polymorphism and mutation databases

BioMutaiCHD1L.
DMDMi311033359.

Proteomic databases

EPDiQ86WJ1.
MaxQBiQ86WJ1.
PaxDbiQ86WJ1.
PeptideAtlasiQ86WJ1.
PRIDEiQ86WJ1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000369258; ENSP00000358262; ENSG00000131778.
ENST00000369259; ENSP00000358263; ENSG00000131778.
GeneIDi9557.
KEGGihsa:9557.
UCSCiuc001epm.6. human. [Q86WJ1-1]

Organism-specific databases

CTDi9557.
DisGeNETi9557.
GeneCardsiCHD1L.
H-InvDBHIX0000988.
HIX0028745.
HGNCiHGNC:1916. CHD1L.
HPAiHPA027789.
HPA028670.
MIMi613039. gene.
neXtProtiNX_Q86WJ1.
PharmGKBiPA26452.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0385. Eukaryota.
COG0553. LUCA.
HOGENOMiHOG000074191.
HOVERGENiHBG077542.
InParanoidiQ86WJ1.
KOiK20092.
OrthoDBiEOG091G023P.
PhylomeDBiQ86WJ1.
TreeFamiTF333326.

Enzyme and pathway databases

ReactomeiR-HSA-5696395. Formation of Incision Complex in GG-NER.
R-HSA-5696400. Dual Incision in GG-NER.

Miscellaneous databases

ChiTaRSiCHD1L. human.
GeneWikiiCHD1L.
GenomeRNAii9557.
PROiQ86WJ1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000131778.
CleanExiHS_CHD1L.
ExpressionAtlasiQ86WJ1. baseline and differential.
GenevisibleiQ86WJ1. HS.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR002464. DNA/RNA_helicase_DEAH_CS.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR002589. Macro_dom.
IPR027417. P-loop_NTPase.
IPR000330. SNF2_N.
[Graphical view]
PfamiPF00271. Helicase_C. 1 hit.
PF00176. SNF2_N. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS00690. DEAH_ATP_HELICASE. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
PS51154. MACRO. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCHD1L_HUMAN
AccessioniPrimary (citable) accession number: Q86WJ1
Secondary accession number(s): A5YM64
, B4DDE1, B5MDZ7, Q53EZ3, Q5VXX7, Q6DD94, Q6PK83, Q86XH3, Q96HF7, Q96SP3, Q9BVJ1, Q9NVV8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: November 2, 2010
Last modified: November 2, 2016
This is version 126 of the entry and version 2 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.