• Gene id: 9557

Gene Summary

• Gene Symbol: CHD1L   Gene   UCSC   Ensembl
• Aliases: ALC1, CHDL
• Gene name: chromodomain helicase DNA binding protein 1 like
• Alternate names: chromodomain-helicase-DNA-binding protein 1-like, amplified in liver cancer 1, amplified in liver cancer protein 1,
• Gene location: 1q21.1 (232630495: 232397964)     Exons: 25     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 613039

Protein Summary

• Protein general information: Q86WJ1  
  • Name: Chromodomain helicase DNA binding protein 1 like (EC 3.6.4.12) (Amplified in liver cancer protein 1)
  • Length: 897  
  • Mass: 101000
  • Tissue specificity: Frequently overexpressed in hepatomacellular carcinomas. {ECO
• Sequence:

  MERAGATSRGGQAPGFLLRLHTEGRAEAARVQEQDLRQWGLTGIHLRSYQLEGVNWLAQRFHCQNGCILGDEMGL
  GKTCQTIALFIYLAGRLNDEGPFLILCPLSVLSNWKEEMQRFAPGLSCVTYAGDKEERACLQQDLKQESRFHVLL
  TTYEICLKDASFLKSFPWSVLVVDEAHRLKNQSSLLHKTLSEFSVVFSLLLTGTPIQNSLQELYSLLSFVEPDLF
  SKEEVGDFIQRYQDIEKESESASELHKLLQPFLLRRVKAEVATELPKKTEVVIYHGMSALQKKYYKAILMKDLDA
  FENETAKKVKLQNILSQLRKCVDHPYLFDGVEPEPFEVGDHLTEASGKLHLLDKLLAFLYSGGHRVLLFSQMTQM
  LDILQDYMDYRGYSYERVDGSVRGEERHLAIKNFGQQPIFVFLLSTRAGGVGMNLTAADTVIFVDSDFNPQNDLQ
  AAARAHRIGQNKSVKVIRLIGRDTVEEIVYRKAASKLQLTNMIIEGGHFTLGAQKPAADADLQLSEILKFGLDKL
  LASEGSTMDEIDLESILGETKDGQWVSDALPAAEGGSRDQEEGKNHMYLFEGKDYSKEPSKEDRKSFEQLVNLQK
  TLLEKASQEGRSLRNKGSVLIPGLVEGSTKRKRVLSPEELEDRQKKRQEAAAKRRRLIEEKKRQKEEAEHKKKMA
  WWESNNYQSFCLPSEESEPEDLENGEESSAELDYQDPDATSLKYVSGDVTHPQAGAEDALIVHCVDDSGHWGRGG
  LFTALEKRSAEPRKIYELAGKMKDLSLGGVLLFPVDDKESRNKGQDLLALIVAQHRDRSNVLSGIKMAALEEGLK
  KIFLAAKKKKASVHLPRIGHATKGFNWYGTERLIRKHLAARGIPTYIYYFPRSKSAVLHSQSSSSSSRQLVP

• Structural information:
  • Protein Domains: (58..22-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541-)
    (351..51-)
    (/note="Helicase-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00542-)
    (704..89-)
    (/note="Macro-)
    (/evidence="ECO:0000255|PR-)
  • Interpro: IPR031053  IPR002464  IPR014001  IPR001650  IPR002589   IPR027417  IPR038718  IPR000330  
  • Prosite: PS00690 PS51192 PS51194 PS51154
  • DIP: 48933
  • STRING: ENSP00000358262
• Other Databases: GeneCards:  CHD1L  Malacards:  CHD1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016887	ATPase activity	IBA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IBA	biological process
GO:0006338	chromatin remodeling	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000166	nucleotide binding	IBA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0006338	chromatin remodeling	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0000166	nucleotide binding	IDA	molecular function
GO:0006281	DNA repair	TAS	biological process
GO:0003678	DNA helicase activity	TAS	molecular function
GO:0016887	ATPase activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0006338	chromatin remodeling	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0033683	nucleotide-excision repair, DNA incision	TAS	biological process
GO:0000717	nucleotide-excision repair, DNA duplex unwinding	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006293	nucleotide-excision repair, preincision complex stabilization	TAS	biological process
GO:0006294	nucleotide-excision repair, preincision complex assembly	TAS	biological process
GO:0006295	nucleotide-excision repair, DNA incision, 3'-to lesion	TAS	biological process
GO:0006296	nucleotide-excision repair, DNA incision, 5'-to lesion	TAS	biological process
GO:0070911	global genome nucleotide-excision repair	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq