• Gene id: 26038

Gene Summary

• Gene Symbol: CHD5   Gene   UCSC   Ensembl
• Aliases: CHD-5
• Gene name: chromodomain helicase DNA binding protein 5
• Alternate names: chromodomain-helicase-DNA-binding protein 5, ATP-dependent helicase CHD5,
• Gene location: 1p36.31 (6180320: 6101786)     Exons: 8     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein
• OMIM: 610771

Protein Summary

• Protein general information: Q8TDI0  
  • Name: Chromodomain helicase DNA binding protein 5 (CHD 5) (EC 3.6.4.12) (ATP dependent helicase CHD5)
  • Length: 1954  
  • Mass: 223050
  • Tissue specificity: Preferentially expressed in total brain, fetal brain, and cerebellum. It is also moderately expressed in the adrenal gland and detected in testis. {ECO
• Sequence:

  MRGPVGTEEELPRLFAEEMENEDEMSEEEDGGLEAFDDFFPVEPVSLPKKKKPKKLKENKCKGKRKKKEGSNDEL
  SENEEDLEEKSESEGSDYSPNKKKKKKLKDKKEKKAKRKKKDEDEDDNDDGCLKEPKSSGQLMAEWGLDDVDYLF
  SEEDYHTLTNYKAFSQFLRPLIAKKNPKIPMSKMMTVLGAKWREFSANNPFKGSSAAAAAAAVAAAVETVTISPP
  LAVSPPQVPQPVPIRKAKTKEGKGPGVRKKIKGSKDGKKKGKGKKTAGLKFRFGGISNKRKKGSSSEEDEREESD
  FDSASIHSASVRSECSAALGKKSKRRRKKKRIDDGDGYETDHQDYCEVCQQGGEIILCDTCPRAYHLVCLDPELE
  KAPEGKWSCPHCEKEGIQWEPKDDDDEEEEGGCEEEEDDHMEFCRVCKDGGELLCCDACPSSYHLHCLNPPLPEI
  PNGEWLCPRCTCPPLKGKVQRILHWRWTEPPAPFMVGLPGPDVEPSLPPPKPLEGIPEREFFVKWAGLSYWHCSW
  VKELQLELYHTVMYRNYQRKNDMDEPPPFDYGSGDEDGKSEKRKNKDPLYAKMEERFYRYGIKPEWMMIHRILNH
  SFDKKGDVHYLIKWKDLPYDQCTWEIDDIDIPYYDNLKQAYWGHRELMLGEDTRLPKRLLKKGKKLRDDKQEKPP
  DTPIVDPTVKFDKQPWYIDSTGGTLHPYQLEGLNWLRFSWAQGTDTILADEMGLGKTVQTIVFLYSLYKEGHSKG
  PYLVSAPLSTIINWEREFEMWAPDFYVVTYTGDKESRSVIRENEFSFEDNAIRSGKKVFRMKKEVQIKFHVLLTS
  YELITIDQAILGSIEWACLVVDEAHRLKNNQSKFFRVLNSYKIDYKLLLTGTPLQNNLEELFHLLNFLTPERFNN
  LEGFLEEFADISKEDQIKKLHDLLGPHMLRRLKADVFKNMPAKTELIVRVELSQMQKKYYKFILTRNFEALNSKG
  GGNQVSLLNIMMDLKKCCNHPYLFPVAAVEAPVLPNGSYDGSSLVKSSGKLMLLQKMLKKLRDEGHRVLIFSQMT
  KMLDLLEDFLEYEGYKYERIDGGITGGLRQEAIDRFNAPGAQQFCFLLSTRAGGLGINLATADTVIIYDSDWNPH
  NDIQAFSRAHRIGQNKKVMIYRFVTRASVEERITQVAKRKMMLTHLVVRPGLGSKSGSMTKQELDDILKFGTEEL
  FKDDVEGMMSQGQRPVTPIPDVQSSKGGNLAASAKKKHGSTPPGDNKDVEDSSVIHYDDAAISKLLDRNQDATDD
  TELQNMNEYLSSFKVAQYVVREEDGVEEVEREIIKQEENVDPDYWEKLLRHHYEQQQEDLARNLGKGKRIRKQVN
  YNDASQEDQEWQDELSDNQSEYSIGSEDEDEDFEERPEGQSGRRQSRRQLKSDRDKPLPPLLARVGGNIEVLGFN
  ARQRKAFLNAIMRWGMPPQDAFNSHWLVRDLRGKSEKEFRAYVSLFMRHLCEPGADGAETFADGVPREGLSRQHV
  LTRIGVMSLVRKKVQEFEHVNGKYSTPDLIPEGPEGKKSGEVISSDPNTPVPASPAHLLPAPLGLPDKMEAQLGY
  MDEKDPGAQKPRQPLEVQALPAALDRVESEDKHESPASKERAREERPEETEKAPPSPEQLPREEVLPEKEKILDK
  LELSLIHSRGDSSELRPDDTKAEEKEPIETQQNGDKEEDDEGKKEDKKGKFKFMFNIADGGFTELHTLWQNEERA
  AVSSGKIYDIWHRRHDYWLLAGIVTHGYARWQDIQNDPRYMILNEPFKSEVHKGNYLEMKNKFLARRFKLLEQAL
  VIEEQLRRAAYLNMTQDPNHPAMALNARLAEVECLAESHQHLSKESLAGNKPANAVLHKVLNQLEELLSDMKADV
  TRLPSMLSRIPPVAARLQMSERSILSRLTNRAGDPTIQQGAFGSSQMYSNNFGPNFRGPGPGGIVNYNQMPLGPY
  VTDI

• Structural information:
  • Protein Domains: (497..55-)
    (/note="Chromo-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00053-)
    (592..65-)
    (/note="Chromo-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00053-)
    (712..89-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-P-)
  • Interpro: IPR028727  IPR012957  IPR012958  IPR016197  IPR000953   IPR023780  IPR002464  IPR009462  IPR009463  IPR014001  IPR001650  IPR027417  IPR038718  IPR000330  IPR019786  IPR011011  IPR001965  IPR019787  IPR013083  
  • Prosite: PS50013 PS00690 PS51192 PS51194 PS01359 PS50016
  • PDB: 6GUU
  • PDBsum: 6GUU
  • STRING: ENSP00000262450
• Other Databases: GeneCards:  CHD5  Malacards:  CHD5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061628	H3K27me3 modified histone binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:1901798	positive regulation of signal transduction by p53 class mediator	ISS	biological process
GO:0060850	regulation of transcription involved in cell fate commitment	IMP	biological process
GO:0035093	spermatogenesis, exchange of chromosomal proteins	ISS	biological process
GO:0016581	NuRD complex	ISS	cellular component
GO:0008285	negative regulation of cell population proliferation	ISS	biological process
GO:0000792	heterochromatin	ISS	cellular component
GO:0098532	histone H3-K27 trimethylation	IMP	biological process
GO:0043967	histone H4 acetylation	ISS	biological process
GO:0021895	cerebral cortex neuron differentiation	ISS	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0004386	helicase activity	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881