CHD5
Chromodomain-helicase-DNA-binding protein 5
Also known as: CHD5_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8TDI0
- Gene
- CHD5
- Ensembl
- ENSG00000116254
- Chromosome
- 1
- Canonical length
- 1954 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nuclear speckles,Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
1954 residues, UniProt reviewed canonical sequence.
>Q8TDI0|CHD5
1 MRGPVGTEEE LPRLFAEEME NEDEMSEEED GGLEAFDDFF PVEPVSLPKK KKPKKLKENK
61 CKGKRKKKEG SNDELSENEE DLEEKSESEG SDYSPNKKKK KKLKDKKEKK AKRKKKDEDE
121 DDNDDGCLKE PKSSGQLMAE WGLDDVDYLF SEEDYHTLTN YKAFSQFLRP LIAKKNPKIP
181 MSKMMTVLGA KWREFSANNP FKGSSAAAAA AAVAAAVETV TISPPLAVSP PQVPQPVPIR
241 KAKTKEGKGP GVRKKIKGSK DGKKKGKGKK TAGLKFRFGG ISNKRKKGSS SEEDEREESD
301 FDSASIHSAS VRSECSAALG KKSKRRRKKK RIDDGDGYET DHQDYCEVCQ QGGEIILCDT
361 CPRAYHLVCL DPELEKAPEG KWSCPHCEKE GIQWEPKDDD DEEEEGGCEE EEDDHMEFCR
421 VCKDGGELLC CDACPSSYHL HCLNPPLPEI PNGEWLCPRC TCPPLKGKVQ RILHWRWTEP
481 PAPFMVGLPG PDVEPSLPPP KPLEGIPERE FFVKWAGLSY WHCSWVKELQ LELYHTVMYR
541 NYQRKNDMDE PPPFDYGSGD EDGKSEKRKN KDPLYAKMEE RFYRYGIKPE WMMIHRILNH
601 SFDKKGDVHY LIKWKDLPYD QCTWEIDDID IPYYDNLKQA YWGHRELMLG EDTRLPKRLL
661 KKGKKLRDDK QEKPPDTPIV DPTVKFDKQP WYIDSTGGTL HPYQLEGLNW LRFSWAQGTD
721 TILADEMGLG KTVQTIVFLY SLYKEGHSKG PYLVSAPLST IINWEREFEM WAPDFYVVTY
781 TGDKESRSVI RENEFSFEDN AIRSGKKVFR MKKEVQIKFH VLLTSYELIT IDQAILGSIE
841 WACLVVDEAH RLKNNQSKFF RVLNSYKIDY KLLLTGTPLQ NNLEELFHLL NFLTPERFNN
901 LEGFLEEFAD ISKEDQIKKL HDLLGPHMLR RLKADVFKNM PAKTELIVRV ELSQMQKKYY
961 KFILTRNFEA LNSKGGGNQV SLLNIMMDLK KCCNHPYLFP VAAVEAPVLP NGSYDGSSLV
1021 KSSGKLMLLQ KMLKKLRDEG HRVLIFSQMT KMLDLLEDFL EYEGYKYERI DGGITGGLRQ
1081 EAIDRFNAPG AQQFCFLLST RAGGLGINLA TADTVIIYDS DWNPHNDIQA FSRAHRIGQN
1141 KKVMIYRFVT RASVEERITQ VAKRKMMLTH LVVRPGLGSK SGSMTKQELD DILKFGTEEL
1201 FKDDVEGMMS QGQRPVTPIP DVQSSKGGNL AASAKKKHGS TPPGDNKDVE DSSVIHYDDA
1261 AISKLLDRNQ DATDDTELQN MNEYLSSFKV AQYVVREEDG VEEVEREIIK QEENVDPDYW
1321 EKLLRHHYEQ QQEDLARNLG KGKRIRKQVN YNDASQEDQE WQDELSDNQS EYSIGSEDED
1381 EDFEERPEGQ SGRRQSRRQL KSDRDKPLPP LLARVGGNIE VLGFNARQRK AFLNAIMRWG
1441 MPPQDAFNSH WLVRDLRGKS EKEFRAYVSL FMRHLCEPGA DGAETFADGV PREGLSRQHV
1501 LTRIGVMSLV RKKVQEFEHV NGKYSTPDLI PEGPEGKKSG EVISSDPNTP VPASPAHLLP
1561 APLGLPDKME AQLGYMDEKD PGAQKPRQPL EVQALPAALD RVESEDKHES PASKERAREE
1621 RPEETEKAPP SPEQLPREEV LPEKEKILDK LELSLIHSRG DSSELRPDDT KAEEKEPIET
1681 QQNGDKEEDD EGKKEDKKGK FKFMFNIADG GFTELHTLWQ NEERAAVSSG KIYDIWHRRH
1741 DYWLLAGIVT HGYARWQDIQ NDPRYMILNE PFKSEVHKGN YLEMKNKFLA RRFKLLEQAL
1801 VIEEQLRRAA YLNMTQDPNH PAMALNARLA EVECLAESHQ HLSKESLAGN KPANAVLHKV
1861 LNQLEELLSD MKADVTRLPS MLSRIPPVAA RLQMSERSIL SRLTNRAGDP TIQQGAFGSS
1921 QMYSNNFGPN FRGPGPGGIV NYNQMPLGPY VTDILocalizationUniProt · AlphaFold · HPA
Whether an antibody against CHD5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.43
- Highest tissue expression
- 80 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 80 nTPM
- pituitary gland: 53 nTPM
- hippocampal formation: 41 nTPM
- amygdala: 37 nTPM
- hypothalamus: 33 nTPM
- testis: 31 nTPM
Single-cell type
- early spermatids: 245 nCPM
- somatotrophs: 229 nCPM
- thyrotrophs: 210 nCPM
- lactotrophs: 170 nCPM
- late spermatids: 134 nCPM
- retinal horizontal cells: 122 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 170 nTPM
- amygdala: 108 nTPM
- white matter: 108 nTPM
- basal ganglia: 99 nTPM
- hippocampal formation: 98 nTPM
- midbrain: 72 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CHD5.
Disease | AllUniProt
Conditions CHD5 is implicated in, by any mechanism.
- Parenti-Mignot neurodevelopmental syndrome (PMNDS) MIM:619873
Disease | GeneticClinVar
42 pathogenic / likely-pathogenic of 565 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Parenti-mignot neurodevelopmental syndrome
- Global developmental delay
- Seizure
- Intellectual disability
- CHD5-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.16
- gnomAD pLI
- 1
- gnomAD missense Z
- 5.32
- DepMap mean gene effect
- 0
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cerebral cortex neuron differentiation
- chromatin remodeling
- negative regulation of cell population proliferation
- positive regulation of signal transduction by p53 class mediator
- regulation of transcription by RNA polymerase II
- sperm DNA condensation
Molecular functions
- ATP binding
- ATP hydrolysis activity
- ATP-dependent chromatin remodeler activity
- chromatin binding
- DNA binding
- histone binding
- histone H3K27me3 reader activity
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SNF2, N-terminal domain
- Chromo/chromo shadow domain
- Helicase, C-terminal domain-like
- Zinc finger, PHD-type
- DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site
- CHD subfamily II, SANT-like domain
- Domain of unknown function DUF1087
- Zinc finger, FYVE/PHD-type
- CHD, C-terminal 2
- CHD, N-terminal
- Zinc finger, RING/FYVE/PHD-type
- Helicase superfamily 1/2, ATP-binding domain
- Chromo-like domain superfamily
- Zinc finger, PHD-type, conserved site
- Zinc finger, PHD-finger
- Chromo domain
- P-loop containing nucleoside triphosphate hydrolase
- SNF2-like, N-terminal domain superfamily
- SNF2/RAD5-like, C-terminal helicase domain
- SNF2-related domain
- Helicase conserved C-terminal domain
- Chromo (CHRromatin Organisation MOdifier) domain
- PHD-finger
- CHD subfamily II, SANT-like domain
- CHD subfamily II, DUF1087
- CHDNT (NUC034) domain
- CHDCT2 (NUC038) domain
- Chromodomain-helicase-DNA-binding protein 5, DEAH-box helicase domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CHD5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CHD5 as an antibody target. Whether an autoantibody or antibody against CHD5 could matter depends on whether native CHD5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CHD5 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CHD5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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