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This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Overexpression of this gene has been linked to several types of cancers. [provided by RefSeq, Feb 2017]
CHD1L (Chromodomain Helicase DNA Binding Protein 1 Like) is a Protein Coding gene. Diseases associated with CHD1L include Cakut and Postcholecystectomy Syndrome. Among its related pathways are Nucleotide excision repair and Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and hydrolase activity. An important paralog of this gene is CHD5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA,IDA | 19661379 |
GO:0003678 | DNA helicase activity | IEA,TAS | 19661379 |
GO:0004386 | helicase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 19661379 |
GO:0005524 | ATP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,IDA | 19661379 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0005886 | plasma membrane | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) | ||
2 | Chromatin Regulation / Acetylation | ||
3 | DNA Double-Strand Break Repair |
.53
|
|
4 | Nucleotide excision repair |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000717 | nucleotide-excision repair, DNA duplex unwinding | TAS | -- |
GO:0006281 | DNA repair | IEA,TAS | 19661379 |
GO:0006293 | nucleotide-excision repair, preincision complex stabilization | TAS | -- |
GO:0006294 | nucleotide-excision repair, preincision complex assembly | TAS | -- |
GO:0006295 | nucleotide-excision repair, DNA incision, 3'-to lesion | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
58-64-0 |
|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: |
ExUns: | 14c | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | · | 17c | ^ | 18 | ^ | 19 | ^ | 20a | · | 20b | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | ^ | 24 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||||
SP12: | |||||||||||||||||||||||||||||
SP13: | |||||||||||||||||||||||||||||
SP14: | |||||||||||||||||||||||||||||
SP15: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CHD1L 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CHD1L 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CHD1L 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Chd1l 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Chd1l 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CHD1L 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CHD1L 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CHD1L 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CHD1L 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | chd1l 30 31 |
|
OneToOne | |
zgc56084 30 |
|
||||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ISW2 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT2G44980 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os03g0101700 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
872437 | Uncertain Significance: not provided | 147,270,943(+) |
T/C NM_004284.6(CHD1L):c.1097T>C (p.Val366Ala) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs1064797118 | Uncertain Significance: not provided | 147,285,355(+) |
C/A NM_004284.6(CHD1L):c.1886C>A (p.Thr629Asn) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs1311096135 | Uncertain Significance: Abnormality of the urinary system | 147,252,729(+) |
C/T NM_004284.6(CHD1L):c.234C>T (p.Thr78=) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON | |
rs1313109952 | Likely Benign: not provided | 147,201,145(+) |
C/T NM_001461.4(FMO5):c.1183+7G>A |
INTRON | |
rs13374920 | Benign: not provided. - | 147,285,415(+) |
A/Cp.Glu649Ala NM_004284.6(CHD1L):c.1946A>C (p.Glu649Ala) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv327n100 | CNV | gain | 25217958 |
dgv66e199 | CNV | deletion | 23128226 |
esv2761299 | CNV | gain+loss | 21179565 |
esv2761654 | CNV | loss | 21179565 |
esv3894112 | CNV | loss | 25118596 |
nsv1003688 | CNV | gain | 25217958 |
nsv1005055 | CNV | loss | 25217958 |
nsv1132304 | CNV | duplication | 24896259 |
nsv437047 | CNV | loss | 16327808 |
nsv509457 | CNV | insertion | 20534489 |
nsv510962 | OTHER | complex | 20534489 |
nsv547676 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cakut |
|
|
postcholecystectomy syndrome |
|
|
prostate calculus |
|
|