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Q86WJ1 (CHD1L_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 100. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Chromodomain-helicase-DNA-binding protein 1-like

EC=3.6.4.12
Alternative name(s):
Amplified in liver cancer protein 1
Gene names
Name:CHD1L
Synonyms:ALC1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length897 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.1 Ref.8

Catalytic activity

ATP + H2O = ADP + phosphate.

Subunit structure

Interacts with PARP1; interacts only when PARP1 is poly-ADP-ribosylated (PARylated). Ref.8

Subcellular location

Nucleus. Note: Localizes at sites of DNA damage. Probably recruited to DNA damage sites by PARylated PARP1. Ref.8

Tissue specificity

Frequently overexpressed in hepatomacellular carcinomas. Ref.1

Domain

The macro domain mediates non-covalent poly(ADP-ribose)-binding and recruitment to DNA damage sites. Ref.8

Sequence similarities

Belongs to the SNF2/RAD54 helicase family.

Contains 1 helicase ATP-binding domain.

Contains 1 helicase C-terminal domain.

Contains 1 Macro domain.

Sequence caution

The sequence BAB55248.1 differs from that shown. Reason: Frameshift at position 597.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q86WJ1-1)

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.
Isoform 2 (identifier: Q86WJ1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     331-424: Missing.
Isoform 3 (identifier: Q86WJ1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     43-246: Missing.
Isoform 4 (identifier: Q86WJ1-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 897897Chromodomain-helicase-DNA-binding protein 1-like
PRO_0000332141

Regions

Domain58 – 223166Helicase ATP-binding
Domain351 – 513163Helicase C-terminal
Domain704 – 897194Macro
Nucleotide binding71 – 788ATP By similarity
Coiled coil638 – 67538 Potential
Motif174 – 1774DEAH box

Amino acid modifications

Modified residue6361Phosphoserine Ref.9
Modified residue8911Phosphoserine Ref.7

Natural variations

Alternative sequence1 – 113113Missing in isoform 4.
VSP_033340
Alternative sequence43 – 246204Missing in isoform 3.
VSP_033341
Alternative sequence331 – 42494Missing in isoform 2.
VSP_033342
Natural variant251R → P. Ref.5
Corresponds to variant rs11588753 [ dbSNP | Ensembl ].
VAR_042954
Natural variant3501H → Q. Ref.3
Corresponds to variant rs17356233 [ dbSNP | Ensembl ].
VAR_042955
Natural variant6491E → A.
Corresponds to variant rs13374920 [ dbSNP | Ensembl ].
VAR_042956
Natural variant7431S → C. Ref.5
Corresponds to variant rs2275249 [ dbSNP | Ensembl ].
VAR_042957
Natural variant8851A → S. Ref.1 Ref.2 Ref.3 Ref.5 Ref.7 Ref.10
Corresponds to variant rs4950394 [ dbSNP | Ensembl ].
VAR_042958

Experimental info

Mutagenesis771K → R: Abolishes ATPase activity. Ref.8
Mutagenesis7231D → A: Strongly reduces poly(ADP-ribose)-binding but not ATPase activity. Ref.8
Sequence conflict1921E → EVFE in ABQ59048. Ref.3
Sequence conflict3791L → P in BAB55248. Ref.2
Sequence conflict4471N → D in BAD97216. Ref.6
Sequence conflict5971N → S in BAD97216. Ref.6
Sequence conflict6741M → V in BAA91637. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 2, 2010. Version 2.
Checksum: 226A1F8A5272F9FE

FASTA897100,984
        10         20         30         40         50         60 
MERAGATSRG GQAPGFLLRL HTEGRAEAAR VQEQDLRQWG LTGIHLRSYQ LEGVNWLAQR 

        70         80         90        100        110        120 
FHCQNGCILG DEMGLGKTCQ TIALFIYLAG RLNDEGPFLI LCPLSVLSNW KEEMQRFAPG 

       130        140        150        160        170        180 
LSCVTYAGDK EERACLQQDL KQESRFHVLL TTYEICLKDA SFLKSFPWSV LVVDEAHRLK 

       190        200        210        220        230        240 
NQSSLLHKTL SEFSVVFSLL LTGTPIQNSL QELYSLLSFV EPDLFSKEEV GDFIQRYQDI 

       250        260        270        280        290        300 
EKESESASEL HKLLQPFLLR RVKAEVATEL PKKTEVVIYH GMSALQKKYY KAILMKDLDA 

       310        320        330        340        350        360 
FENETAKKVK LQNILSQLRK CVDHPYLFDG VEPEPFEVGD HLTEASGKLH LLDKLLAFLY 

       370        380        390        400        410        420 
SGGHRVLLFS QMTQMLDILQ DYMDYRGYSY ERVDGSVRGE ERHLAIKNFG QQPIFVFLLS 

       430        440        450        460        470        480 
TRAGGVGMNL TAADTVIFVD SDFNPQNDLQ AAARAHRIGQ NKSVKVIRLI GRDTVEEIVY 

       490        500        510        520        530        540 
RKAASKLQLT NMIIEGGHFT LGAQKPAADA DLQLSEILKF GLDKLLASEG STMDEIDLES 

       550        560        570        580        590        600 
ILGETKDGQW VSDALPAAEG GSRDQEEGKN HMYLFEGKDY SKEPSKEDRK SFEQLVNLQK 

       610        620        630        640        650        660 
TLLEKASQEG RSLRNKGSVL IPGLVEGSTK RKRVLSPEEL EDRQKKRQEA AAKRRRLIEE 

       670        680        690        700        710        720 
KKRQKEEAEH KKKMAWWESN NYQSFCLPSE ESEPEDLENG EESSAELDYQ DPDATSLKYV 

       730        740        750        760        770        780 
SGDVTHPQAG AEDALIVHCV DDSGHWGRGG LFTALEKRSA EPRKIYELAG KMKDLSLGGV 

       790        800        810        820        830        840 
LLFPVDDKES RNKGQDLLAL IVAQHRDRSN VLSGIKMAAL EEGLKKIFLA AKKKKASVHL 

       850        860        870        880        890 
PRIGHATKGF NWYGTERLIR KHLAARGIPT YIYYFPRSKS AVLHAQSSSS SSRQLVP 

« Hide

Isoform 2 [UniParc].

Checksum: 946382BEB5C3FE59
Show »

FASTA80390,239
Isoform 3 [UniParc].

Checksum: 06F3DA517A960C94
Show »

FASTA69377,739
Isoform 4 [UniParc].

Checksum: 76E431268F87A9D1
Show »

FASTA78488,403

References

« Hide 'large scale' references
[1]"Isolation and characterization of a novel oncogene, amplified in liver cancer 1, within a commonly amplified region at 1q21 in hepatocellular carcinoma."
Ma N.-F., Hu L., Fung J.-M., Xie D., Zheng B.-J., Chen L., Tang D.-J., Fu L., Wu Z., Chen M., Fang Y., Guan X.-Y.
Hepatology 47:503-510(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, VARIANT SER-885.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-831 (ISOFORM 1), VARIANT SER-885.
Tissue: Neuron.
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS GLN-350 AND SER-885.
Tissue: Retina.
[4]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-897 (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 15-897 (ISOFORM 2), VARIANTS PRO-25; CYS-743 AND SER-885.
Tissue: Brain, Eye, Prostate and Skin.
[6]Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 97-798.
Tissue: Hepatocyte.
[7]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-891, VARIANT [LARGE SCALE ANALYSIS] SER-885, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Poly(ADP-ribose)-dependent regulation of DNA repair by the chromatin remodeling enzyme ALC1."
Ahel D., Horejsi Z., Wiechens N., Polo S.E., Garcia-Wilson E., Ahel I., Flynn H., Skehel M., West S.C., Jackson S.P., Owen-Hughes T., Boulton S.J.
Science 325:1240-1243(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, DOMAIN MACRO, ADP-RIBOSE-BINDING, INTERACTION WITH PARP1, MUTAGENESIS OF LYS-77 AND ASP-723.
[9]"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-636, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-885, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF537213 mRNA. Translation: AAO49505.1.
AK001342 mRNA. Translation: BAA91637.1.
AK027631 mRNA. Translation: BAB55248.1. Frameshift.
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.
RefSeqNP_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.
UniGeneHs.191164.

3D structure databases

ProteinModelPortalQ86WJ1.
SMRQ86WJ1. Positions 41-547, 719-873.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114929. 29 interactions.
DIPDIP-48933N.
IntActQ86WJ1. 6 interactions.
MINTMINT-7944527.

PTM databases

PhosphoSiteQ86WJ1.

Polymorphism databases

DMDM311033359.

Proteomic databases

PaxDbQ86WJ1.
PRIDEQ86WJ1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000369258; ENSP00000358262; ENSG00000131778. [Q86WJ1-1]
ENST00000369259; ENSP00000358263; ENSG00000131778. [Q86WJ1-3]
ENST00000431239; ENSP00000389031; ENSG00000131778. [Q86WJ1-2]
ENST00000579763; ENSP00000463454; ENSG00000264980.
ENST00000583055; ENSP00000464521; ENSG00000264980.
GeneID9557.
KEGGhsa:9557.
UCSCuc001epm.5. human. [Q86WJ1-1]
uc001epo.5. human. [Q86WJ1-3]
uc009wjh.4. human. [Q86WJ1-2]

Organism-specific databases

CTD9557.
GeneCardsGC01P146717.
H-InvDBHIX0000988.
HIX0028745.
HGNCHGNC:1916. CHD1L.
HPAHPA027789.
HPA028670.
MIM613039. gene.
neXtProtNX_Q86WJ1.
PharmGKBPA26452.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0553.
HOVERGENHBG077542.
InParanoidQ86WJ1.
OMAAFVFMIS.
PhylomeDBQ86WJ1.
TreeFamTF333326.

Gene expression databases

ArrayExpressQ86WJ1.
BgeeQ86WJ1.
CleanExHS_CHD1L.
GenevestigatorQ86WJ1.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
InterProIPR002464. DNA/RNA_helicase_DEAH_CS.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR002589. Macro_dom.
IPR027417. P-loop_NTPase.
IPR000330. SNF2_N.
[Graphical view]
PfamPF00271. Helicase_C. 1 hit.
PF00176. SNF2_N. 1 hit.
[Graphical view]
SMARTSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 2 hits.
PROSITEPS00690. DEAH_ATP_HELICASE. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
PS51154. MACRO. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCHD1L. human.
GeneWikiCHD1L.
GenomeRNAi9557.
NextBio35849.
PROQ86WJ1.
SOURCESearch...

Entry information

Entry nameCHD1L_HUMAN
AccessionPrimary (citable) accession number: Q86WJ1
Secondary accession number(s): A5YM64 expand/collapse secondary AC list , Q53EZ3, Q5VXX7, Q6DD94, Q6PK83, Q86XH3, Q96HF7, Q96SP3, Q9BVJ1, Q9NVV8
Entry history
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: November 2, 2010
Last modified: April 16, 2014
This is version 100 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM