Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 26038
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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 (28861439: 28861368)     Exons: 1     NC_000017.11
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 that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]
OMIM 610771

SNPs

 rs12082745

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000663.2   g.6104220G>A
NC_000001.10   g.6164280G>A
NC_000001.11   g.6104220G>A
NM_015557.2   c.*1254C>T
XP_005263606.1   p.Pro209Leu
rs12758341

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000663.2   g.6101899G>A
NC_000001.10   g.6161959G>A
NC_000001.11   g.6101899G>A
NG_047091.1   g.114602G>A
NM_015557.2   c.*3575C>T
rs17436816

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000663.2   g.6144101G>A
NC_000001.10   g.6204161G>A
NC_000001.11   g.6144101G>A
NM_015557.2   c.1857C>T
NP_056372.1   p.Tyr619=
rs1883603

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000663.2   g.6152881G>A
NC_000001.10   g.6212941G>A
NC_000001.11   g.6152881G>A
NM_015557.2   c.746-345C>T
rs2092507

Strand:    Allele origin:   Allele change: C/T   Mutation type: snp

CM000663.2   g.6104348G>A
NC_000001.10   g.6164408G>A
NC_000001.11   g.6104348G>A
NM_015557.2   c.*1126C>T
XP_005263606.1   p.Gly166=
rs9434741

Strand:    Allele origin:   Allele change: A/G   Mutation type: snp

CM000663.2   g.6157799A>G
NC_000001.10   g.6217859A>G
NC_000001.11   g.6157799A>G
NM_015557.2   c.387+1537T>C

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: 2,23,050

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
 Chromo (497-554)
Chromo (592-653)
Helicase (712-896)
Helicase (1028-1193)

Motifs
 DEAH box.(847-850)
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

Pfam:  		 PF08074 PF08073 PF00385 PF06461 PF06465 PF00271 PF00628 PF00176
CDD:   cd00024 cd00079
MINT:  
STRING:   ENSP00000262450;
Other Databases GeneCards:  CHD5;  Malacards:  CHD5

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000792 heterochromatin
 ISS cellular_component
GO:0003677 DNA binding
 IEA molecular_function
GO:0005524 ATP binding
 IEA molecular_function
GO:0005634 nucleus
 IDA cellular_component
GO:0006351 transcription, DNA-templa
ted
 IEA biological_process
GO:0008026 ATP-dependent helicase ac
tivity
 IEA molecular_function
GO:0008270 zinc ion binding
 IEA molecular_function
GO:0008285 negative regulation of ce
ll proliferation
 ISS biological_process
GO:0016020 membrane
 IDA cellular_component
GO:0016581 NuRD complex
 ISS cellular_component
GO:0021895 cerebral cortex neuron di
fferentiation
 ISS biological_process
GO:0035093 spermatogenesis, exchange
of chromosomal proteins
 ISS biological_process
GO:0043967 histone H4 acetylation
 ISS biological_process
GO:0060850 regulation of transcripti
on involved in cell fate
commitment
 IMP biological_process
GO:0061628 H3K27me3 modified histone
binding
 IDA molecular_function
GO:0098532 histone H3-K27 trimethyla
tion
 IMP biological_process
GO:1901798 positive regulation of si
gnal transduction by p53
class mediator
 ISS biological_process
GO:0000166 nucleotide binding
 IEA molecular_function
GO:0000792 heterochromatin
 ISS cellular_component
GO:0003676 nucleic acid binding
 IEA molecular_function
GO:0003677 DNA binding
 IEA molecular_function
GO:0003677 DNA binding
 IEA molecular_function
GO:0004386 helicase activity
 IEA molecular_function
GO:0005524 ATP binding
 IEA molecular_function
GO:0005524 ATP binding
 IEA molecular_function
GO:0005634 nucleus
 IEA cellular_component
GO:0005634 nucleus
 IEA cellular_component
GO:0005634 nucleus
 IEA cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0006351 transcription, DNA-templa
ted
 IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological_process
GO:0007283 spermatogenesis
 IEA biological_process
GO:0007399 nervous system developmen
t
 IEA biological_process
GO:0008026 ATP-dependent helicase ac
tivity
 IEA molecular_function
GO:0008270 zinc ion binding
 IEA molecular_function
GO:0008285 negative regulation of ce
ll proliferation
 ISS biological_process
GO:0016020 membrane
 IDA cellular_component
GO:0016581 NuRD complex
 ISS cellular_component
GO:0016787 hydrolase activity
 IEA molecular_function
GO:0016818 hydrolase activity, actin
g on acid anhydrides, in
phosphorus-containing anh
ydrides
 IEA molecular_function
GO:0021895 cerebral cortex neuron di
fferentiation
 ISS biological_process
GO:0030154 cell differentiation
 IEA biological_process
GO:0035093 spermatogenesis, exchange
of chromosomal proteins
 ISS biological_process
GO:0043967 histone H4 acetylation
 ISS biological_process
GO:0046872 metal ion binding
 IEA molecular_function
GO:0060850 regulation of transcripti
on involved in cell fate
commitment
 IMP biological_process
GO:0061628 H3K27me3 modified histone
binding
 IDA molecular_function
GO:0098532 histone H3-K27 trimethyla
tion
 IMP biological_process
GO:1901798 positive regulation of si
gnal transduction by p53
class mediator
 ISS biological_process
GO:0000792 heterochromatin
 ISS cellular_component
GO:0005634 nucleus
 IDA cellular_component
GO:0008285 negative regulation of ce
ll proliferation
 ISS biological_process
GO:0016020 membrane
 IDA cellular_component
GO:0016581 NuRD complex
 ISS cellular_component
GO:0021895 cerebral cortex neuron di
fferentiation
 ISS biological_process
GO:0035093 spermatogenesis, exchange
of chromosomal proteins
 ISS biological_process
GO:0043967 histone H4 acetylation
 ISS biological_process
GO:0060850 regulation of transcripti
on involved in cell fate
commitment
 IMP biological_process
GO:0061628 H3K27me3 modified histone
binding
 IDA molecular_function
GO:0098532 histone H3-K27 trimethyla
tion
 IMP biological_process
GO:1901798 positive regulation of si
gnal transduction by p53
class mediator
 ISS biological_process

Diseases

Associated diseases References
Endometriosis INFBASE22910690

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
22910690 Endometrio
sis
 CHD5 (rs1883603, rs9434741, rs17436816) Caucasi
an
 1685 (947 women
with endometri
osis, 738 contr
ols)
 CHD5
 Show abstract