Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Chromodomain-helicase-DNA-binding protein 7

Gene

CHD7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production.1 Publication

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi993 – 1000ATPPROSITE-ProRule annotation8

GO - Molecular functioni

GO - Biological processi

  • adult heart development Source: Ensembl
  • adult walking behavior Source: Ensembl
  • aorta morphogenesis Source: Ensembl
  • atrioventricular canal development Source: Ensembl
  • blood circulation Source: Ensembl
  • blood vessel remodeling Source: Ensembl
  • cardiac septum morphogenesis Source: Ensembl
  • central nervous system development Source: BHF-UCL
  • chromatin modification Source: UniProtKB-KW
  • chromatin remodeling Source: Ensembl
  • cognition Source: BHF-UCL
  • cranial nerve development Source: BHF-UCL
  • embryonic hindlimb morphogenesis Source: Ensembl
  • epithelium development Source: Ensembl
  • face development Source: BHF-UCL
  • female genitalia development Source: Ensembl
  • genitalia development Source: BHF-UCL
  • heart morphogenesis Source: BHF-UCL
  • inner ear morphogenesis Source: BHF-UCL
  • innervation Source: Ensembl
  • in utero embryonic development Source: BHF-UCL
  • limb development Source: BHF-UCL
  • nose development Source: BHF-UCL
  • olfactory behavior Source: Ensembl
  • olfactory bulb development Source: Ensembl
  • olfactory nerve development Source: Ensembl
  • palate development Source: BHF-UCL
  • positive regulation of multicellular organism growth Source: Ensembl
  • positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  • regulation of growth hormone secretion Source: BHF-UCL
  • regulation of neurogenesis Source: Ensembl
  • regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum Source: Ensembl
  • regulation of transcription, DNA-templated Source: BHF-UCL
  • retina development in camera-type eye Source: BHF-UCL
  • right ventricular compact myocardium morphogenesis Source: Ensembl
  • rRNA processing Source: UniProtKB-KW
  • semicircular canal morphogenesis Source: Ensembl
  • sensory perception of sound Source: Ensembl
  • skeletal system development Source: BHF-UCL
  • T cell differentiation Source: BHF-UCL
  • transcription, DNA-templated Source: UniProtKB-KW
  • ventricular trabecula myocardium morphogenesis Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Chromatin regulator, Helicase, Hydrolase

Keywords - Biological processi

rRNA processing, Transcription, Transcription regulation

Keywords - Ligandi

ATP-binding, DNA-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000171316-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Chromodomain-helicase-DNA-binding protein 7 (EC:3.6.4.12)
Short name:
CHD-7
Alternative name(s):
ATP-dependent helicase CHD7
Gene namesi
Name:CHD7
Synonyms:KIAA1416
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:20626. CHD7.

Subcellular locationi

Isoform 1 :
Isoform 3 :
  • Nucleusnucleolus 1 Publication

GO - Cellular componenti

  • nucleolus Source: UniProtKB-SubCell
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

CHARGE syndrome (CHARGES)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCommon cause of congenital anomalies. Is characterized by a non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
See also OMIM:214800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06810441M → I in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs756851968dbSNPEnsembl.1
Natural variantiVAR_06837572Y → C in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs767819417dbSNPEnsembl.1
Natural variantiVAR_06810586P → R in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_06837799A → P in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs779024959dbSNPEnsembl.1
Natural variantiVAR_068108238V → M in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs200898742dbSNPEnsembl.1
Natural variantiVAR_068380254Q → E in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_068382439P → S in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs772369092dbSNPEnsembl.1
Natural variantiVAR_068112558P → A in CHARGES; unknown pathological significance. 2 PublicationsCorresponds to variant rs746837682dbSNPEnsembl.1
Natural variantiVAR_068385699S → G in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_068114699S → T in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_068115728D → N in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs756365280dbSNPEnsembl.1
Natural variantiVAR_068387840W → C in CHARGES. 1 Publication1
Natural variantiVAR_068117871E → D in CHARGES. 1 Publication1
Natural variantiVAR_068118894T → A in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs377662366dbSNPEnsembl.1
Natural variantiVAR_068119907K → T in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_068120917T → M in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_068121938R → K in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_068388942T → A in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs370194460dbSNPEnsembl.1
Natural variantiVAR_068122944R → H in CHARGES; unknown pathological significance. 2 PublicationsCorresponds to variant rs117506164dbSNPEnsembl.1
Natural variantiVAR_068123947R → Q in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs768481542dbSNPEnsembl.1
Natural variantiVAR_068389975G → R in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_0681241020L → S in CHARGES. 2 Publications1
Natural variantiVAR_0210591028I → V in CHARGES. 3 PublicationsCorresponds to variant rs121434338dbSNPEnsembl.1
Natural variantiVAR_0332451031W → G in CHARGES. 1 Publication1
Natural variantiVAR_0683901031W → R in CHARGES. 1 Publication1
Natural variantiVAR_0683911081I → S in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_0683921082T → N in CHARGES. 1 Publication1
Natural variantiVAR_0683931101C → R in CHARGES. 1 Publication1
Natural variantiVAR_0681251203E → Q in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_0681261208V → D in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_0332461214Q → R in CHARGES. 3 Publications1
Natural variantiVAR_0683941251C → R in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_0210601257L → R in CHARGES. 1 PublicationCorresponds to variant rs121434339dbSNPEnsembl.1
Natural variantiVAR_0683951292L → P in CHARGES. 1 Publication1
Natural variantiVAR_0332471294L → P in CHARGES. 2 Publications1
Natural variantiVAR_0729611302L → P in CHARGES. 1 Publication1
Natural variantiVAR_0683961317R → C in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs373301291dbSNPEnsembl.1
Natural variantiVAR_0683971318C → R in CHARGES. 1 Publication1
Natural variantiVAR_0681271322L → P in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_0681281345R → C in CHARGES and HH5; unknown pathological significance. 2 Publications1
Natural variantiVAR_0683981345R → H in CHARGES. 1 Publication1
Natural variantiVAR_0681291395Q → H in CHARGES. 1 Publication1
Natural variantiVAR_0681301416T → R in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_0681311457K → Q in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_0681321576F → C in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_0729631592R → W in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs773187713dbSNPEnsembl.1
Natural variantiVAR_0684001617G → D in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_0681331617G → S in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_0684011619G → V in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_0681341684G → S in CHARGES and HH5. 4 Publications1
Natural variantiVAR_0681351739L → R in CHARGES. 1 Publication1
Natural variantiVAR_0729641742V → D in CHARGES. 1 Publication1
Natural variantiVAR_0690341745L → P in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_0681361791D → E in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_0684031797G → V in CHARGES. 1 Publication1
Natural variantiVAR_0681371802G → D in CHARGES. 1 Publication1
Natural variantiVAR_0684041812D → G in CHARGES. 1 Publication1
Natural variantiVAR_0684051812D → H in CHARGES. 1 Publication1
Natural variantiVAR_0332481815L → P in CHARGES. 2 Publications1
Natural variantiVAR_0681381866D → G in CHARGES; unknown pathological significance. 2 Publications1
Natural variantiVAR_0681391950A → T in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs201423234dbSNPEnsembl.1
Natural variantiVAR_0681402065R → H in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_0681412065R → S in CHARGES. 1 Publication1
Natural variantiVAR_0684082074L → P in CHARGES and HH5; unknown pathological significance. 2 Publications1
Natural variantiVAR_0681422084S → G in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs201083157dbSNPEnsembl.1
Natural variantiVAR_0684092091W → R in CHARGES; no effect on interaction with CHD8. 2 Publications1
Natural variantiVAR_0332492096H → R in CHARGES; no effect on interaction with CHD8. 2 PublicationsCorresponds to variant rs587783451dbSNPEnsembl.1
Natural variantiVAR_0684102097D → G in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_0684112102V → I in CHARGES; unknown pathological significance; has no effect on interaction with CHD8. 3 Publications1
Natural variantiVAR_0681432103G → D in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs794727555dbSNPEnsembl.1
Natural variantiVAR_0681442108G → R in CHARGES and HH5; has no effect on interaction with CHD8. 4 PublicationsCorresponds to variant rs121434343dbSNPEnsembl.1
Natural variantiVAR_0681452116I → N in CHARGES. 2 Publications1
Natural variantiVAR_0684142259A → T in CHARGES and HH5; unknown pathological significance. 2 PublicationsCorresponds to variant rs200806228dbSNPEnsembl.1
Natural variantiVAR_0684152286G → A in CHARGES. 1 Publication1
Natural variantiVAR_0684162312K → T in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_0681482319R → C in CHARGES; unknown pathological significance. 2 Publications1
Natural variantiVAR_0332502319R → S in CHARGES. 1 PublicationCorresponds to variant rs121434341dbSNPEnsembl.1
Natural variantiVAR_0684172366L → R in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_0681502418R → G in CHARGES. 1 Publication1
Natural variantiVAR_0684192464K → E in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_0681512495R → S in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs547209998dbSNPEnsembl.1
Natural variantiVAR_0681542683P → S in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs201319489dbSNPEnsembl.1
Natural variantiVAR_0681552702R → C in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_0681562733A → T in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs370231679dbSNPEnsembl.1
Natural variantiVAR_0681592931V → M in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs370271088dbSNPEnsembl.1
Idiopathic scoliosis 3 (IS3)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionAn abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees.
See also OMIM:608765
Hypogonadotropic hypogonadism 5 with or without anosmia (HH5)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
See also OMIM:612370
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05462355H → R in HH5; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant rs121434345dbSNPEnsembl.1
Natural variantiVAR_072955685A → AK in HH5. 1 Publication1
Natural variantiVAR_068116744G → S in HH5. 3 PublicationsCorresponds to variant rs141947938dbSNPEnsembl.1
Natural variantiVAR_072956758R → H in HH5. 1 PublicationCorresponds to variant rs202208393dbSNPEnsembl.1
Natural variantiVAR_054624834S → F in HH5; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism. 1 PublicationCorresponds to variant rs121434344dbSNPEnsembl.1
Natural variantiVAR_072957886R → W in HH5. 1 Publication1
Natural variantiVAR_072958944R → S in HH5. 1 PublicationCorresponds to variant rs587783435dbSNPEnsembl.1
Natural variantiVAR_0729591030N → S in HH5. 1 Publication1
Natural variantiVAR_0729601291K → E in HH5. 1 Publication1
Natural variantiVAR_0681281345R → C in CHARGES and HH5; unknown pathological significance. 2 Publications1
Natural variantiVAR_0729621375L → F in HH5. 1 Publication1
Natural variantiVAR_0681341684G → S in CHARGES and HH5. 4 Publications1
Natural variantiVAR_0729651838M → V in HH5. 1 PublicationCorresponds to variant rs759918327dbSNPEnsembl.1
Natural variantiVAR_0729661912R → G in HH5. 1 Publication1
Natural variantiVAR_0729672065R → C in HH5. 1 Publication1
Natural variantiVAR_0684082074L → P in CHARGES and HH5; unknown pathological significance. 2 Publications1
Natural variantiVAR_0681442108G → R in CHARGES and HH5; has no effect on interaction with CHD8. 4 PublicationsCorresponds to variant rs121434343dbSNPEnsembl.1
Natural variantiVAR_0681462160A → T in HH5. 2 PublicationsCorresponds to variant rs61753399dbSNPEnsembl.1
Natural variantiVAR_0684142259A → T in CHARGES and HH5; unknown pathological significance. 2 PublicationsCorresponds to variant rs200806228dbSNPEnsembl.1
Natural variantiVAR_0729682398R → G in HH5. 1 Publication1
Natural variantiVAR_0681522527M → L in HH5. 2 PublicationsCorresponds to variant rs192129249dbSNPEnsembl.1
Natural variantiVAR_0729692833Q → P in HH5. 1 Publication1
Natural variantiVAR_0546262880P → L in HH5; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism. 1 PublicationCorresponds to variant rs113938624dbSNPEnsembl.1
Natural variantiVAR_0546272948K → E in HH5; phenotype consistent with Kallmann syndrome. 1 Publication1

Keywords - Diseasei

Disease mutation, Hypogonadotropic hypogonadism, Kallmann syndrome

Organism-specific databases

DisGeNETi55636.
MalaCardsiCHD7.
MIMi214800. phenotype.
608765. phenotype.
612370. phenotype.
OpenTargetsiENSG00000171316.
Orphaneti138. CHARGE syndrome.
478. Kallmann syndrome.
432. Normosmic congenital hypogonadotropic hypogonadism.
39041. Omenn syndrome.
PharmGKBiPA134948695.

Polymorphism and mutation databases

BioMutaiCHD7.
DMDMi148877246.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000802321 – 2997Chromodomain-helicase-DNA-binding protein 7Add BLAST2997

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei148Omega-N-methylarginineCombined sources1
Modified residuei286Asymmetric dimethylarginineBy similarity1
Modified residuei637PhosphoserineCombined sources1
Modified residuei725PhosphoserineCombined sources1
Modified residuei1577PhosphoserineCombined sources1
Modified residuei1581PhosphoserineCombined sources1
Modified residuei1874PhosphoserineCombined sources1
Modified residuei2231PhosphoserineCombined sources1
Modified residuei2233PhosphoserineCombined sources1
Modified residuei2237PhosphoserineCombined sources1
Modified residuei2251PhosphoserineCombined sources1
Modified residuei2272PhosphoserineCombined sources1
Modified residuei2275PhosphoserineCombined sources1
Modified residuei2356PhosphoserineCombined sources1
Modified residuei2395PhosphoserineCombined sources1
Modified residuei2472PhosphothreonineCombined sources1
Modified residuei2533PhosphoserineCombined sources1
Modified residuei2535PhosphoserineCombined sources1
Modified residuei2551PhosphothreonineCombined sources1
Modified residuei2559PhosphoserineCombined sources1
Modified residuei2619PhosphoserineCombined sources1
Modified residuei2956PhosphoserineCombined sources1
Modified residuei2961PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ9P2D1.
MaxQBiQ9P2D1.
PaxDbiQ9P2D1.
PeptideAtlasiQ9P2D1.
PRIDEiQ9P2D1.

PTM databases

iPTMnetiQ9P2D1.
PhosphoSitePlusiQ9P2D1.

Expressioni

Tissue specificityi

Widely expressed in fetal and adult tissues.2 Publications

Gene expression databases

BgeeiENSG00000171316.
CleanExiHS_CHD7.
ExpressionAtlasiQ9P2D1. baseline and differential.
GenevisibleiQ9P2D1. HS.

Organism-specific databases

HPAiHPA053075.
HPA066585.

Interactioni

Subunit structurei

May interact with CTCF (PubMed:17603073). Interacts with CHD8 (PubMed:20453063). Interacts with FAM124B (PubMed:23285124).3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CHD8Q9HCK8-23EBI-3951683,EBI-4410319

Protein-protein interaction databases

BioGridi120775. 26 interactors.
DIPiDIP-48685N.
IntActiQ9P2D1. 4 interactors.
MINTiMINT-5005703.
STRINGi9606.ENSP00000392028.

Structurei

Secondary structure

12997
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi2571 – 2573Combined sources3
Turni2574 – 2577Combined sources4
Beta strandi2578 – 2580Combined sources3
Helixi2582 – 2584Combined sources3
Helixi2588 – 2597Combined sources10
Beta strandi2601 – 2604Combined sources4
Turni2612 – 2615Combined sources4
Helixi2633 – 2635Combined sources3
Helixi2638 – 2640Combined sources3
Turni2641 – 2644Combined sources4
Beta strandi2649 – 2654Combined sources6
Beta strandi2660 – 2663Combined sources4
Helixi2666 – 2668Combined sources3
Helixi2669 – 2675Combined sources7
Beta strandi2679 – 2681Combined sources3
Helixi2683 – 2692Combined sources10
Beta strandi2693 – 2695Combined sources3
Helixi2697 – 2702Combined sources6

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CKCNMR-A2563-2622[»]
2V0ENMR-A2561-2614[»]
2V0FNMR-A2631-2715[»]
ProteinModelPortaliQ9P2D1.
SMRiQ9P2D1.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9P2D1.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini800 – 867Chromo 1PROSITE-ProRule annotationAdd BLAST68
Domaini882 – 947Chromo 2PROSITE-ProRule annotationAdd BLAST66
Domaini980 – 1154Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST175
Domaini1294 – 1464Helicase C-terminalPROSITE-ProRule annotationAdd BLAST171

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili2401 – 2431Sequence analysisAdd BLAST31

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi1105 – 1108DEAH box4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi151 – 222Gln-richAdd BLAST72
Compositional biasi383 – 568Pro-richAdd BLAST186
Compositional biasi597 – 718Lys-richAdd BLAST122
Compositional biasi1939 – 1945Poly-Arg7
Compositional biasi2165 – 2258Glu-richAdd BLAST94
Compositional biasi2398 – 2405Poly-Arg8
Compositional biasi2726 – 2736Poly-AlaAdd BLAST11

Sequence similaritiesi

Belongs to the SNF2/RAD54 helicase family.Curated
Contains 2 chromo domains.PROSITE-ProRule annotation
Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG0384. Eukaryota.
COG0553. LUCA.
GeneTreeiENSGT00760000119067.
HOVERGENiHBG081150.
InParanoidiQ9P2D1.
KOiK14437.
OMAiSYKRQQM.
OrthoDBiEOG091G0022.
PhylomeDBiQ9P2D1.
TreeFamiTF313572.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR006576. BRK_domain.
IPR000953. Chromo/shadow_dom.
IPR023780. Chromo_domain.
IPR016197. Chromodomain-like.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR000330. SNF2_N.
[Graphical view]
PfamiPF07533. BRK. 2 hits.
PF00385. Chromo. 2 hits.
PF00271. Helicase_C. 1 hit.
PF00176. SNF2_N. 1 hit.
[Graphical view]
SMARTiSM00592. BRK. 2 hits.
SM00298. CHROMO. 2 hits.
SM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
SSF54160. SSF54160. 2 hits.
PROSITEiPS50013. CHROMO_2. 2 hits.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9P2D1-1) [UniParc]FASTAAdd to basket
Also known as: CHD7L

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MADPGMMSLF GEDGNIFSEG LEGLGECGYP ENPVNPMGQQ MPIDQGFASL
60 70 80 90 100
QPSLHHPSTN QNQTKLTHFD HYNQYEQQKM HLMDQPNRMM SNTPGNGLAS
110 120 130 140 150
PHSQYHTPPV PQVPHGGSGG GQMGVYPGMQ NERHGQSFVD SSSMWGPRAV
160 170 180 190 200
QVPDQIRAPY QQQQPQPQPP QPAPSGPPAQ GHPQHMQQMG SYMARGDFSM
210 220 230 240 250
QQHGQPQQRM SQFSQGQEGL NQGNPFIATS GPGHLSHVPQ QSPSMAPSLR
260 270 280 290 300
HSVQQFHHHP STALHGESVA HSPRFSPNPP QQGAVRPQTL NFSSRSQTVP
310 320 330 340 350
SPTINNSGQY SRYPYSNLNQ GLVNNTGMNQ NLGLTNNTPM NQSVPRYPNA
360 370 380 390 400
VGFPSNSGQG LMHQQPIHPS GSLNQMNTQT MHPSQPQGTY ASPPPMSPMK
410 420 430 440 450
AMSNPAGTPP PQVRPGSAGI PMEVGSYPNM PHPQPSHQPP GAMGIGQRNM
460 470 480 490 500
GPRNMQQSRP FIGMSSAPRE LTGHMRPNGC PGVGLGDPQA IQERLIPGQQ
510 520 530 540 550
HPGQQPSFQQ LPTCPPLQPH PGLHHQSSPP HPHHQPWAQL HPSPQNTPQK
560 570 580 590 600
VPVHQHSPSE PFLEKPVPDM TQVSGPNAQL VKSDDYLPSI EQQPQQKKKK
610 620 630 640 650
KKNNHIVAED PSKGFGKDDF PGGVDNQELN RNSLDGSQEE KKKKKRSKAK
660 670 680 690 700
KDPKEPKEPK EKKEPKEPKT PKAPKIPKEP KEKKAKTATP KPKSSKKSSN
710 720 730 740 750
KKPDSEASAL KKKVNKGKTE GSENSDLDKT PPPSPPPEED EDPGVQKRRS
760 770 780 790 800
SRQVKRKRYT EDLEFKISDE EADDADAAGR DSPSNTSQSE QQESVDAEGP
810 820 830 840 850
VVEKIMSSRS VKKQKESGEE VEIEEFYVKY KNFSYLHCQW ASIEDLEKDK
860 870 880 890 900
RIQQKIKRFK AKQGQNKFLS EIEDELFNPD YVEVDRIMDF ARSTDDRGEP
910 920 930 940 950
VTHYLVKWCS LPYEDSTWER RQDIDQAKIE EFEKLMSREP ETERVERPPA
960 970 980 990 1000
DDWKKSESSR EYKNNNKLRE YQLEGVNWLL FNWYNMRNCI LADEMGLGKT
1010 1020 1030 1040 1050
IQSITFLYEI YLKGIHGPFL VIAPLSTIPN WEREFRTWTE LNVVVYHGSQ
1060 1070 1080 1090 1100
ASRRTIQLYE MYFKDPQGRV IKGSYKFHAI ITTFEMILTD CPELRNIPWR
1110 1120 1130 1140 1150
CVVIDEAHRL KNRNCKLLEG LKMMDLEHKV LLTGTPLQNT VEELFSLLHF
1160 1170 1180 1190 1200
LEPSRFPSET TFMQEFGDLK TEEQVQKLQA ILKPMMLRRL KEDVEKNLAP
1210 1220 1230 1240 1250
KEETIIEVEL TNIQKKYYRA ILEKNFTFLS KGGGQANVPN LLNTMMELRK
1260 1270 1280 1290 1300
CCNHPYLING AEEKILEEFK ETHNAESPDF QLQAMIQAAG KLVLIDKLLP
1310 1320 1330 1340 1350
KLKAGGHRVL IFSQMVRCLD ILEDYLIQRR YPYERIDGRV RGNLRQAAID
1360 1370 1380 1390 1400
RFSKPDSDRF VFLLCTRAGG LGINLTAADT CIIFDSDWNP QNDLQAQARC
1410 1420 1430 1440 1450
HRIGQSKSVK IYRLITRNSY EREMFDKASL KLGLDKAVLQ SMSGRENATN
1460 1470 1480 1490 1500
GVQQLSKKEI EDLLRKGAYG ALMDEEDEGS KFCEEDIDQI LLRRTHTITI
1510 1520 1530 1540 1550
ESEGKGSTFA KASFVASGNR TDISLDDPNF WQKWAKKAEL DIDALNGRNN
1560 1570 1580 1590 1600
LVIDTPRVRK QTRLYSAVKE DELMEFSDLE SDSEEKPCAK PRRPQDKSQG
1610 1620 1630 1640 1650
YARSECFRVE KNLLVYGWGR WTDILSHGRY KRQLTEQDVE TICRTILVYC
1660 1670 1680 1690 1700
LNHYKGDENI KSFIWDLITP TADGQTRALV NHSGLSAPVP RGRKGKKVKA
1710 1720 1730 1740 1750
QSTQPVVQDA DWLASCNPDA LFQEDSYKKH LKHHCNKVLL RVRMLYYLRQ
1760 1770 1780 1790 1800
EVIGDQADKI LEGADSSEAD VWIPEPFHAE VPADWWDKEA DKSLLIGVFK
1810 1820 1830 1840 1850
HGYEKYNSMR ADPALCFLER VGMPDAKAIA AEQRGTDMLA DGGDGGEFDR
1860 1870 1880 1890 1900
EDEDPEYKPT RTPFKDEIDE FANSPSEDKE ESMEIHATGK HSESNAELGQ
1910 1920 1930 1940 1950
LYWPNTSTLT TRLRRLITAY QRSYKRQQMR QEALMKTDRR RRRPREEVRA
1960 1970 1980 1990 2000
LEAEREAIIS EKRQKWTRRE EADFYRVVST FGVIFDPVKQ QFDWNQFRAF
2010 2020 2030 2040 2050
ARLDKKSDES LEKYFSCFVA MCRRVCRMPV KPDDEPPDLS SIIEPITEER
2060 2070 2080 2090 2100
ASRTLYRIEL LRKIREQVLH HPQLGERLKL CQPSLDLPEW WECGRHDRDL
2110 2120 2130 2140 2150
LVGAAKHGVS RTDYHILNDP ELSFLDAHKN FAQNRGAGNT SSLNPLAVGF
2160 2170 2180 2190 2200
VQTPPVISSA HIQDERVLEQ AEGKVEEPEN PAAKEKCEGK EEEEETDGSG
2210 2220 2230 2240 2250
KESKQECEAE ASSVKNELKG VEVGADTGSK SISEKGSEED EEEKLEDDDK
2260 2270 2280 2290 2300
SEESSQPEAG AVSRGKNFDE ESNASMSTAR DETRDGFYME DGDPSVAQLL
2310 2320 2330 2340 2350
HERTFAFSFW PKDRVMINRL DNICEAVLKG KWPVNRRQMF DFQGLIPGYT
2360 2370 2380 2390 2400
PTTVDSPLQK RSFAELSMVG QASISGSEDI TTSPQLSKED ALNLSVPRQR
2410 2420 2430 2440 2450
RRRRRKIEIE AERAAKRRNL MEMVAQLRES QVVSENGQEK VVDLSKASRE
2460 2470 2480 2490 2500
ATSSTSNFSS LSSKFILPNV STPVSDAFKT QMELLQAGLS RTPTRHLLNG
2510 2520 2530 2540 2550
SLVDGEPPMK RRRGRRKNVE GLDLLFMSHK RTSLSAEDAE VTKAFEEDIE
2560 2570 2580 2590 2600
TPPTRNIPSP GQLDPDTRIP VINLEDGTRL VGEDAPKNKD LVEWLKLHPT
2610 2620 2630 2640 2650
YTVDMPSYVP KNADVLFSSF QKPKQKRHRC RNPNKLDINT LTGEERVPVV
2660 2670 2680 2690 2700
NKRNGKKMGG AMAPPMKDLP RWLEENPEFA VAPDWTDIVK QSGFVPESMF
2710 2720 2730 2740 2750
DRLLTGPVVR GEGASRRGRR PKSEIARAAA AAAAVASTSG INPLLVNSLF
2760 2770 2780 2790 2800
AGMDLTSLQN LQNLQSLQLA GLMGFPPGLA TAATAGGDAK NPAAVLPLML
2810 2820 2830 2840 2850
PGMAGLPNVF GLGGLLNNPL SAATGNTTTA SSQGEPEDST SKGEEKGNEN
2860 2870 2880 2890 2900
EDENKDSEKS TDAVSAADSA NGSVGAATAP AGLPSNPLAF NPFLLSTMAP
2910 2920 2930 2940 2950
GLFYPSMFLP PGLGGLTLPG FPALAGLQNA VGSSEEKAAD KAEGGPFKDG
2960 2970 2980 2990
ETLEGSDAEE SLDKTAESSL LEDEIAQGEE LDSLDGGDEI ENNENDE
Length:2,997
Mass (Da):335,927
Last modified:May 29, 2007 - v3
Checksum:i5C22675169665CC0
GO
Isoform 2 (identifier: Q9P2D1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1127-1138: EHKVLLTGTPLQ → VSDHIGDCTEPE
     1139-2997: Missing.

Note: May be due to an intron retention.
Show »
Length:1,138
Mass (Da):127,825
Checksum:i600C90FABADB53F9
GO
Isoform 3 (identifier: Q9P2D1-3) [UniParc]FASTAAdd to basket
Also known as: CHD7S

The sequence of this isoform differs from the canonical sequence as follows:
     833-833: F → L
     834-2620: Missing.

Note: Ubiquitous, expression enriched in lung and large intestine.
Show »
Length:1,210
Mass (Da):130,429
Checksum:iD28E474435F41789
GO
Isoform 4 (identifier: Q9P2D1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     572-2620: Missing.

Show »
Length:948
Mass (Da):101,085
Checksum:i35E7DF356C0E4904
GO

Sequence cautioni

The sequence AAH14681 differs from that shown. Potential poly-A sequence.Curated
The sequence AAH14681 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH53890 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH68000 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH80627 differs from that shown. Potential poly-A sequence.Curated
The sequence AAH80627 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAI10819 differs from that shown. Potential poly-A sequence.Curated
The sequence BAA91113 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA91116 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti80M → T in ACY35999 (Ref. 1) Curated1
Sequence conflicti323V → A in ACY35999 (Ref. 1) Curated1
Sequence conflicti408T → A in ACY35999 (Ref. 1) Curated1
Sequence conflicti915D → G in BAA91116 (PubMed:14702039).Curated1
Sequence conflicti2846K → E in ACY35999 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06837437M → L.1 Publication1
Natural variantiVAR_06810441M → I in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs756851968dbSNPEnsembl.1
Natural variantiVAR_05462355H → R in HH5; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant rs121434345dbSNPEnsembl.1
Natural variantiVAR_06837572Y → C in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs767819417dbSNPEnsembl.1
Natural variantiVAR_06810586P → R in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_06837693T → A.1 PublicationCorresponds to variant rs398124317dbSNPEnsembl.1
Natural variantiVAR_06837799A → P in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs779024959dbSNPEnsembl.1
Natural variantiVAR_068106103S → T.2 PublicationsCorresponds to variant rs41272435dbSNPEnsembl.1
Natural variantiVAR_072954117G → D.1 PublicationCorresponds to variant rs372110761dbSNPEnsembl.1
Natural variantiVAR_068378167P → L.1 PublicationCorresponds to variant rs61742851dbSNPEnsembl.1
Natural variantiVAR_068107201Q → R.1 PublicationCorresponds to variant rs764496155dbSNPEnsembl.1
Natural variantiVAR_068379238V → L.1 Publication1
Natural variantiVAR_068108238V → M in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs200898742dbSNPEnsembl.1
Natural variantiVAR_068380254Q → E in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_068381286R → G.1 PublicationCorresponds to variant rs61995713dbSNPEnsembl.1
Natural variantiVAR_048731340M → V.1 PublicationCorresponds to variant rs41305525dbSNPEnsembl.1
Natural variantiVAR_068109369P → A.1 PublicationCorresponds to variant rs766747354dbSNPEnsembl.1
Natural variantiVAR_068382439P → S in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs772369092dbSNPEnsembl.1
Natural variantiVAR_068110466S → L.2 PublicationsCorresponds to variant rs71640285dbSNPEnsembl.1
Natural variantiVAR_069032511L → V.1 Publication1
Natural variantiVAR_068111522G → V.2 PublicationsCorresponds to variant rs142962579dbSNPEnsembl.1
Natural variantiVAR_068383524H → P.1 PublicationCorresponds to variant rs78962949dbSNPEnsembl.1
Natural variantiVAR_069033527S → A.1 Publication1
Natural variantiVAR_068112558P → A in CHARGES; unknown pathological significance. 2 PublicationsCorresponds to variant rs746837682dbSNPEnsembl.1
Natural variantiVAR_068384596Q → K.1 Publication1
Natural variantiVAR_068113636G → V.1 PublicationCorresponds to variant rs529321177dbSNPEnsembl.1
Natural variantiVAR_072955685A → AK in HH5. 1 Publication1
Natural variantiVAR_068385699S → G in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_068114699S → T in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_068115728D → N in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs756365280dbSNPEnsembl.1
Natural variantiVAR_068116744G → S in HH5. 3 PublicationsCorresponds to variant rs141947938dbSNPEnsembl.1
Natural variantiVAR_072956758R → H in HH5. 1 PublicationCorresponds to variant rs202208393dbSNPEnsembl.1
Natural variantiVAR_068386812K → N.1 PublicationCorresponds to variant rs61978638dbSNPEnsembl.1
Natural variantiVAR_054624834S → F in HH5; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism. 1 PublicationCorresponds to variant rs121434344dbSNPEnsembl.1
Natural variantiVAR_068387840W → C in CHARGES. 1 Publication1
Natural variantiVAR_068117871E → D in CHARGES. 1 Publication1
Natural variantiVAR_072957886R → W in HH5. 1 Publication1
Natural variantiVAR_068118894T → A in CHARGES; unknown pathological significance. 1 PublicationCorresponds to variant rs377662366dbSNPEnsembl.1
Natural variantiVAR_068119907K → T in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_068120917T → M in CHARGES; unknown pathological significance. 1 Publication1
Natural variantiVAR_068121938R → K in CHARGES; unknown pathological significance. 1 Publication