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Q9P2D1 (CHD7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 130. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Chromodomain-helicase-DNA-binding protein 7

Short name=CHD-7
EC=3.6.4.12
Alternative name(s):
ATP-dependent helicase CHD7
Gene names
Name:CHD7
Synonyms:KIAA1416
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2997 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production. Ref.14

Catalytic activity

ATP + H2O = ADP + phosphate.

Subunit structure

May interact with CTCF. Interacts with CHD8. Ref.10 Ref.17

Subcellular location

Isoform 1: Nucleus Ref.10 Ref.14.

Isoform 3: Nucleusnucleolus Ref.10 Ref.14.

Tissue specificity

Widely expressed in fetal and adult tissues. Ref.14 Ref.18

Involvement in disease

CHARGE syndrome (CHARGES) [MIM:214800]: Common 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.16 Ref.18 Ref.19 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26

Idiopathic scoliosis 3 (IS3) [MIM:608765]: An abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.20

Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]: A 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).
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.21

Sequence similarities

Belongs to the SNF2/RAD54 helicase family.

Contains 2 chromo domains.

Contains 1 helicase ATP-binding domain.

Contains 1 helicase C-terminal domain.

Sequence caution

The sequence AAH14681.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence AAH14681.1 differs from that shown. Reason: Potential poly-A sequence.

The sequence AAH53890.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence AAH68000.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence AAH80627.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence AAH80627.1 differs from that shown. Reason: Potential poly-A sequence.

The sequence AAI10819.1 differs from that shown. Reason: Potential poly-A sequence.

The sequence BAA91113.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence BAA91116.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
   Biological processrRNA processing
Transcription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Hypogonadotropic hypogonadism
Kallmann syndrome
   DomainCoiled coil
Repeat
   LigandATP-binding
DNA-binding
Nucleotide-binding
   Molecular functionChromatin regulator
Helicase
Hydrolase
   PTMPhosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processT cell differentiation

Inferred from mutant phenotype PubMed 17684005. Source: BHF-UCL

adult heart development

Inferred from electronic annotation. Source: Ensembl

adult walking behavior

Inferred from electronic annotation. Source: Ensembl

artery morphogenesis

Inferred from electronic annotation. Source: Ensembl

blood circulation

Inferred from electronic annotation. Source: Ensembl

central nervous system development

Inferred from mutant phenotype PubMed 9556299. Source: BHF-UCL

chromatin modification

Inferred from electronic annotation. Source: UniProtKB-KW

cognition

Inferred from mutant phenotype PubMed 16155193. Source: BHF-UCL

cranial nerve development

Inferred from mutant phenotype PubMed 9556299. Source: BHF-UCL

embryonic hindlimb morphogenesis

Inferred from electronic annotation. Source: Ensembl

face development

Inferred from mutant phenotype Ref.18. Source: BHF-UCL

female genitalia development

Inferred from electronic annotation. Source: Ensembl

genitalia development

Inferred from mutant phenotype Ref.18. Source: BHF-UCL

heart morphogenesis

Inferred from mutant phenotype Ref.18. Source: BHF-UCL

in utero embryonic development

Inferred from mutant phenotype Ref.18. Source: BHF-UCL

inner ear morphogenesis

Inferred from mutant phenotype Ref.18. Source: BHF-UCL

limb development

Inferred from mutant phenotype PubMed 17937444. Source: BHF-UCL

nose development

Inferred from mutant phenotype Ref.18. Source: BHF-UCL

palate development

Inferred from mutant phenotype Ref.18. Source: BHF-UCL

positive regulation of multicellular organism growth

Inferred from electronic annotation. Source: Ensembl

rRNA processing

Inferred from electronic annotation. Source: UniProtKB-KW

regulation of growth hormone secretion

Inferred from mutant phenotype PubMed 9556299. Source: BHF-UCL

regulation of transcription, DNA-templated

Non-traceable author statement PubMed 17937444. Source: BHF-UCL

retina development in camera-type eye

Inferred from mutant phenotype Ref.18. Source: BHF-UCL

semicircular canal morphogenesis

Inferred from electronic annotation. Source: Ensembl

sensory perception of sound

Inferred from electronic annotation. Source: Ensembl

skeletal system development

Inferred from mutant phenotype PubMed 16155193. Source: BHF-UCL

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from direct assay Ref.10. Source: UniProtKB

   Molecular_functionATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

DNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

chromatin binding

Traceable author statement PubMed 17299439. Source: BHF-UCL

helicase activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

CHD8Q9HCK8-23EBI-3951683,EBI-4410319

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9P2D1-1)

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.
Isoform 2 (identifier: Q9P2D1-2)

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.
Isoform 3 (identifier: Q9P2D1-3)

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.
Isoform 4 (identifier: Q9P2D1-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 29972997Chromodomain-helicase-DNA-binding protein 7
PRO_0000080232

Regions

Domain800 – 86768Chromo 1
Domain882 – 94766Chromo 2
Domain980 – 1154175Helicase ATP-binding
Domain1294 – 1464171Helicase C-terminal
Nucleotide binding993 – 10008ATP Potential
Coiled coil2401 – 243131 Potential
Motif1105 – 11084DEAH box
Compositional bias151 – 22272Gln-rich
Compositional bias383 – 568186Pro-rich
Compositional bias597 – 718122Lys-rich
Compositional bias1939 – 19457Poly-Arg
Compositional bias2165 – 225894Glu-rich
Compositional bias2398 – 24058Poly-Arg
Compositional bias2726 – 273611Poly-Ala

Amino acid modifications

Modified residue6371Phosphoserine Ref.13
Modified residue7251Phosphoserine Ref.13
Modified residue15771Phosphoserine Ref.13
Modified residue15811Phosphoserine Ref.13
Modified residue18741Phosphoserine Ref.11 Ref.13
Modified residue22311Phosphoserine Ref.13
Modified residue22331Phosphoserine Ref.13
Modified residue22371Phosphoserine Ref.13
Modified residue22511Phosphoserine Ref.11 Ref.13
Modified residue22721Phosphoserine Ref.13
Modified residue22751Phosphoserine Ref.13
Modified residue23561Phosphoserine Ref.8
Modified residue23951Phosphoserine Ref.11
Modified residue24721Phosphothreonine Ref.11
Modified residue25331Phosphoserine Ref.8 Ref.11 Ref.13
Modified residue25351Phosphoserine Ref.13
Modified residue25511Phosphothreonine Ref.8 Ref.11
Modified residue25591Phosphoserine Ref.8 Ref.9 Ref.11 Ref.13
Modified residue26191Phosphoserine Ref.11
Modified residue29561Phosphoserine Ref.11 Ref.13
Modified residue29611Phosphoserine Ref.11 Ref.13

Natural variations

Alternative sequence572 – 26202049Missing in isoform 4.
VSP_046563
Alternative sequence8331F → L in isoform 3.
VSP_046564
Alternative sequence834 – 26201787Missing in isoform 3.
VSP_046565
Alternative sequence1127 – 113812EHKVL…GTPLQ → VSDHIGDCTEPE in isoform 2.
VSP_026038
Alternative sequence1139 – 29971859Missing in isoform 2.
VSP_026039
Natural variant371M → L. Ref.16
VAR_068374
Natural variant411M → I in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068104
Natural variant551H → R in HH5; phenotype consistent with Kallmann syndrome. Ref.21
VAR_054623
Natural variant721Y → C in patients with CHARGES; unknown pathological significance. Ref.16
VAR_068375
Natural variant861P → R in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068105
Natural variant931T → A. Ref.16
VAR_068376
Natural variant991A → P in patients with CHARGES; unknown pathological significance. Ref.16
VAR_068377
Natural variant1031S → T. Ref.23
Corresponds to variant rs41272435 [ dbSNP | Ensembl ].
VAR_068106
Natural variant1671P → L. Ref.16
VAR_068378
Natural variant2011Q → R. Ref.23
VAR_068107
Natural variant2381V → L. Ref.16
VAR_068379
Natural variant2381V → M in a patient with CHARGES; unknown pathological significance. Ref.23
Corresponds to variant rs200898742 [ dbSNP | Ensembl ].
VAR_068108
Natural variant2541Q → E in patients with CHARGES; unknown pathological significance. Ref.16
VAR_068380
Natural variant2861R → G. Ref.16
Corresponds to variant rs61995713 [ dbSNP | Ensembl ].
VAR_068381
Natural variant3401M → V. Ref.23
Corresponds to variant rs41305525 [ dbSNP | Ensembl ].
VAR_048731
Natural variant3691P → A. Ref.23
VAR_068109
Natural variant4391P → S in patients with CHARGES; unknown pathological significance. Ref.16
VAR_068382
Natural variant4661S → L. Ref.15 Ref.23
Corresponds to variant rs71640285 [ dbSNP | Ensembl ].
VAR_068110
Natural variant5111L → V. Ref.15
VAR_069032
Natural variant5221G → V. Ref.15 Ref.23
Corresponds to variant rs142962579 [ dbSNP | Ensembl ].
VAR_068111
Natural variant5241H → P. Ref.16
VAR_068383
Natural variant5271S → A. Ref.15
VAR_069033
Natural variant5581P → A in a patient with CHARGES; unknown pathological significance. Ref.16 Ref.23
VAR_068112
Natural variant5961Q → K. Ref.16
VAR_068384
Natural variant6361G → V. Ref.23
VAR_068113
Natural variant6991S → G in patients with CHARGES; unknown pathological significance. Ref.16
VAR_068385
Natural variant6991S → T in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068114
Natural variant7281D → N in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068115
Natural variant7441G → S. Ref.16 Ref.23
Corresponds to variant rs141947938 [ dbSNP | Ensembl ].
VAR_068116
Natural variant8121K → N. Ref.16
Corresponds to variant rs61978638 [ dbSNP | Ensembl ].
VAR_068386
Natural variant8341S → F in HH5; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism. Ref.21
VAR_054624
Natural variant8401W → C in CHARGES. Ref.16
VAR_068387
Natural variant8711E → D in CHARGES. Ref.23
VAR_068117
Natural variant8941T → A in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068118
Natural variant9071K → T in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068119
Natural variant9171T → M in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068120
Natural variant9381R → K in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068121
Natural variant9421T → A in patients with CHARGES; unknown pathological significance. Ref.16
VAR_068388
Natural variant9441R → H in a patient with CHARGES; unknown pathological significance. Ref.16 Ref.23
Corresponds to variant rs117506164 [ dbSNP | Ensembl ].
VAR_068122
Natural variant9471R → Q in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068123
Natural variant9751G → R in patients with CHARGES; unknown pathological significance. Ref.16
VAR_068389
Natural variant10201L → S in CHARGES. Ref.16 Ref.26
VAR_068124
Natural variant10281I → V in CHARGES. Ref.16 Ref.18 Ref.23
VAR_021059
Natural variant10311W → G in CHARGES. Ref.19
VAR_033245
Natural variant10311W → R in CHARGES. Ref.16
VAR_068390
Natural variant10811I → S in patients with CHARGES; unknown pathological significance. Ref.16
VAR_068391
Natural variant10821T → N in CHARGES. Ref.16
VAR_068392
Natural variant11011C → R in CHARGES. Ref.16
VAR_068393
Natural variant12031E → Q in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068125
Natural variant12081V → D in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068126
Natural variant12141Q → R in CHARGES. Ref.16 Ref.19
VAR_033246
Natural variant12511C → R in patients with CHARGES; unknown pathological significance. Ref.16
VAR_068394
Natural variant12571L → R in CHARGES. Ref.18
VAR_021060
Natural variant12921L → P in CHARGES. Ref.16
VAR_068395
Natural variant12941L → P in CHARGES. Ref.19 Ref.23
VAR_033247
Natural variant13171R → C in patients with CHARGES; unknown pathological significance. Ref.16
VAR_068396
Natural variant13181C → R in CHARGES. Ref.16
VAR_068397
Natural variant13221L → P in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068127
Natural variant13451R → C in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068128
Natural variant13451R → H in CHARGES. Ref.16
VAR_068398
Natural variant13951Q → H in CHARGES. Ref.23
VAR_068129
Natural variant14161T → R in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068130
Natural variant14571K → Q in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068131
Natural variant15761F → C in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068132
Natural variant15941P → S. Ref.16
VAR_068399
Natural variant16171G → D in patients with CHARGES; unknown pathological significance. Ref.16
VAR_068400
Natural variant16171G → S in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068133
Natural variant16191G → V in patients with CHARGES; unknown pathological significance. Ref.16
VAR_068401
Natural variant16721A → V. Ref.16
VAR_068402
Natural variant16841G → S in CHARGES. Ref.16 Ref.23 Ref.25
VAR_068134
Natural variant17391L → R in CHARGES. Ref.23
VAR_068135
Natural variant17451L → P Found in a patient with CHARGES; unknown pathological significance. Ref.15
VAR_069034
Natural variant17911D → E in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068136
Natural variant17971G → V in CHARGES. Ref.16
VAR_068403
Natural variant18021G → D in CHARGES. Ref.26
VAR_068137
Natural variant18121D → G in CHARGES. Ref.16
VAR_068404
Natural variant18121D → H in CHARGES. Ref.16
VAR_068405
Natural variant18151L → P in CHARGES. Ref.16 Ref.19
VAR_033248
Natural variant18661D → G in a patient with CHARGES; unknown pathological significance. Ref.16 Ref.23
VAR_068138
Natural variant19501A → T in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068139
Natural variant19721A → G. Ref.16
VAR_068406
Natural variant20621R → W. Ref.16
VAR_068407
Natural variant20651R → H in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068140
Natural variant20651R → S in CHARGES. Ref.24
VAR_068141
Natural variant20741L → P in patients with CHARGES; unknown pathological significance. Ref.16
VAR_068408
Natural variant20771R → K Found in a patient with cleft lip and palate; unknown pathological significance. Ref.15
VAR_069035
Natural variant20841S → G in a patient with CHARGES; unknown pathological significance. Ref.23
Corresponds to variant rs201083157 [ dbSNP | Ensembl ].
VAR_068142
Natural variant20911W → R in CHARGES; no effect on interaction with CHD8. Ref.10 Ref.16
VAR_068409
Natural variant20961H → R in CHARGES; no effect on interaction with CHD8. Ref.10 Ref.19
VAR_033249
Natural variant20971D → G in patients with CHARGES; unknown pathological significance. Ref.16
VAR_068410
Natural variant21021V → I Found in a patient with CHARGES; unknown pathological significance; has no effect on interaction with CHD8. Ref.10 Ref.15 Ref.16
VAR_068411
Natural variant21031G → D in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068143
Natural variant21081G → R in CHARGES; has no effect on interaction with CHD8. Ref.10 Ref.16 Ref.22
VAR_068144
Natural variant21121T → M Found in a patient with cleft lip and palate; unknown pathological significance. Ref.15 Ref.16
VAR_068412
Natural variant21161I → N in CHARGES. Ref.23
VAR_068145
Natural variant21181N → D. Ref.16
VAR_068413
Natural variant21601A → T. Ref.23
Corresponds to variant rs61753399 [ dbSNP | Ensembl ].
VAR_068146
Natural variant22251A → T. Ref.16 Ref.23
VAR_068147
Natural variant22591A → T in patients with CHARGES; unknown pathological significance. Ref.16
VAR_068414
Natural variant22861G → A in CHARGES. Ref.16
VAR_068415
Natural variant23121K → T in patients with CHARGES; unknown pathological significance. Ref.16
VAR_068416
Natural variant23191R → C Found in patients with CHARGES; unknown pathological significance. Ref.15 Ref.23
VAR_068148
Natural variant23191R → S in CHARGES. Ref.19
VAR_033250
Natural variant23301G → A. Ref.16 Ref.23
Corresponds to variant rs77704609 [ dbSNP | Ensembl ].
VAR_068149
Natural variant23661L → R in patients with CHARGES; unknown pathological significance. Ref.16
VAR_068417
Natural variant24151A → S. Ref.16
Corresponds to variant rs41315633 [ dbSNP | Ensembl ].
VAR_068418
Natural variant24181R → G in CHARGES. Ref.25
VAR_068150
Natural variant24641K → E in patients with CHARGES; unknown pathological significance. Ref.16
VAR_068419
Natural variant24881G → D. Ref.16
VAR_068420
Natural variant24911R → C. Ref.16
VAR_068421
Natural variant24951R → S in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068151
Natural variant25271M → L. Ref.23
Corresponds to variant rs192129249 [ dbSNP | Ensembl ].
VAR_068152
Natural variant26531R → Q. Ref.16 Ref.25
VAR_068153
Natural variant26831P → S in a patient with CHARGES; unknown pathological significance. Ref.23
Corresponds to variant rs201319489 [ dbSNP | Ensembl ].
VAR_068154
Natural variant27021R → C in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068155
Natural variant27251I → V. Ref.16
VAR_068422
Natural variant27331A → T in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068156
Natural variant27501F → L. Ref.16
Corresponds to variant rs3750308 [ dbSNP | Ensembl ].
VAR_033251
Natural variant27801A → V. Ref.16
VAR_068423
Natural variant27891A → T. Ref.16 Ref.21
Corresponds to variant rs200140270 [ dbSNP | Ensembl ].
VAR_054625
Natural variant28061L → V. Ref.23
Corresponds to variant rs45521933 [ dbSNP | Ensembl ].
VAR_068157
Natural variant28571S → A. Ref.16 Ref.23
VAR_068158
Natural variant28801P → L in HH5; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism. Ref.21
VAR_054626
Natural variant29311V → M in a patient with CHARGES; unknown pathological significance. Ref.23
VAR_068159
Natural variant29481K → E in HH5; phenotype consistent with Kallmann syndrome. Ref.21
VAR_054627
Natural variant29841L → F. Ref.23
Corresponds to variant rs184814820 [ dbSNP | Ensembl ].
VAR_068160

Experimental info

Sequence conflict801M → T in ACY35999. Ref.1
Sequence conflict3231V → A in ACY35999. Ref.1
Sequence conflict4081T → A in ACY35999. Ref.1
Sequence conflict9151D → G in BAA91116. Ref.5
Sequence conflict28461K → E in ACY35999. Ref.1

Secondary structure

................................ 2997
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (CHD7L) [UniParc].

Last modified May 29, 2007. Version 3.
Checksum: 5C22675169665CC0

FASTA2,997335,927
        10         20         30         40         50         60 
MADPGMMSLF GEDGNIFSEG LEGLGECGYP ENPVNPMGQQ MPIDQGFASL QPSLHHPSTN 

        70         80         90        100        110        120 
QNQTKLTHFD HYNQYEQQKM HLMDQPNRMM SNTPGNGLAS PHSQYHTPPV PQVPHGGSGG 

       130        140        150        160        170        180 
GQMGVYPGMQ NERHGQSFVD SSSMWGPRAV QVPDQIRAPY QQQQPQPQPP QPAPSGPPAQ 

       190        200        210        220        230        240 
GHPQHMQQMG SYMARGDFSM QQHGQPQQRM SQFSQGQEGL NQGNPFIATS GPGHLSHVPQ 

       250        260        270        280        290        300 
QSPSMAPSLR HSVQQFHHHP STALHGESVA HSPRFSPNPP QQGAVRPQTL NFSSRSQTVP 

       310        320        330        340        350        360 
SPTINNSGQY SRYPYSNLNQ GLVNNTGMNQ NLGLTNNTPM NQSVPRYPNA VGFPSNSGQG 

       370        380        390        400        410        420 
LMHQQPIHPS GSLNQMNTQT MHPSQPQGTY ASPPPMSPMK AMSNPAGTPP PQVRPGSAGI 

       430        440        450        460        470        480 
PMEVGSYPNM PHPQPSHQPP GAMGIGQRNM GPRNMQQSRP FIGMSSAPRE LTGHMRPNGC 

       490        500        510        520        530        540 
PGVGLGDPQA IQERLIPGQQ HPGQQPSFQQ LPTCPPLQPH PGLHHQSSPP HPHHQPWAQL 

       550        560        570        580        590        600 
HPSPQNTPQK VPVHQHSPSE PFLEKPVPDM TQVSGPNAQL VKSDDYLPSI EQQPQQKKKK 

       610        620        630        640        650        660 
KKNNHIVAED PSKGFGKDDF PGGVDNQELN RNSLDGSQEE KKKKKRSKAK KDPKEPKEPK 

       670        680        690        700        710        720 
EKKEPKEPKT PKAPKIPKEP KEKKAKTATP KPKSSKKSSN KKPDSEASAL KKKVNKGKTE 

       730        740        750        760        770        780 
GSENSDLDKT PPPSPPPEED EDPGVQKRRS SRQVKRKRYT EDLEFKISDE EADDADAAGR 

       790        800        810        820        830        840 
DSPSNTSQSE QQESVDAEGP VVEKIMSSRS VKKQKESGEE VEIEEFYVKY KNFSYLHCQW 

       850        860        870        880        890        900 
ASIEDLEKDK RIQQKIKRFK AKQGQNKFLS EIEDELFNPD YVEVDRIMDF ARSTDDRGEP 

       910        920        930        940        950        960 
VTHYLVKWCS LPYEDSTWER RQDIDQAKIE EFEKLMSREP ETERVERPPA DDWKKSESSR 

       970        980        990       1000       1010       1020 
EYKNNNKLRE YQLEGVNWLL FNWYNMRNCI LADEMGLGKT IQSITFLYEI YLKGIHGPFL 

      1030       1040       1050       1060       1070       1080 
VIAPLSTIPN WEREFRTWTE LNVVVYHGSQ ASRRTIQLYE MYFKDPQGRV IKGSYKFHAI 

      1090       1100       1110       1120       1130       1140 
ITTFEMILTD CPELRNIPWR CVVIDEAHRL KNRNCKLLEG LKMMDLEHKV LLTGTPLQNT 

      1150       1160       1170       1180       1190       1200 
VEELFSLLHF LEPSRFPSET TFMQEFGDLK TEEQVQKLQA ILKPMMLRRL KEDVEKNLAP 

      1210       1220       1230       1240       1250       1260 
KEETIIEVEL TNIQKKYYRA ILEKNFTFLS KGGGQANVPN LLNTMMELRK CCNHPYLING 

      1270       1280       1290       1300       1310       1320 
AEEKILEEFK ETHNAESPDF QLQAMIQAAG KLVLIDKLLP KLKAGGHRVL IFSQMVRCLD 

      1330       1340       1350       1360       1370       1380 
ILEDYLIQRR YPYERIDGRV RGNLRQAAID RFSKPDSDRF VFLLCTRAGG LGINLTAADT 

      1390       1400       1410       1420       1430       1440 
CIIFDSDWNP QNDLQAQARC HRIGQSKSVK IYRLITRNSY EREMFDKASL KLGLDKAVLQ 

      1450       1460       1470       1480       1490       1500 
SMSGRENATN GVQQLSKKEI EDLLRKGAYG ALMDEEDEGS KFCEEDIDQI LLRRTHTITI 

      1510       1520       1530       1540       1550       1560 
ESEGKGSTFA KASFVASGNR TDISLDDPNF WQKWAKKAEL DIDALNGRNN LVIDTPRVRK 

      1570       1580       1590       1600       1610       1620 
QTRLYSAVKE DELMEFSDLE SDSEEKPCAK PRRPQDKSQG YARSECFRVE KNLLVYGWGR 

      1630       1640       1650       1660       1670       1680 
WTDILSHGRY KRQLTEQDVE TICRTILVYC LNHYKGDENI KSFIWDLITP TADGQTRALV 

      1690       1700       1710       1720       1730       1740 
NHSGLSAPVP RGRKGKKVKA QSTQPVVQDA DWLASCNPDA LFQEDSYKKH LKHHCNKVLL 

      1750       1760       1770       1780       1790       1800 
RVRMLYYLRQ EVIGDQADKI LEGADSSEAD VWIPEPFHAE VPADWWDKEA DKSLLIGVFK 

      1810       1820       1830       1840       1850       1860 
HGYEKYNSMR ADPALCFLER VGMPDAKAIA AEQRGTDMLA DGGDGGEFDR EDEDPEYKPT 

      1870       1880       1890       1900       1910       1920 
RTPFKDEIDE FANSPSEDKE ESMEIHATGK HSESNAELGQ LYWPNTSTLT TRLRRLITAY 

      1930       1940       1950       1960       1970       1980 
QRSYKRQQMR QEALMKTDRR RRRPREEVRA LEAEREAIIS EKRQKWTRRE EADFYRVVST 

      1990       2000       2010       2020       2030       2040 
FGVIFDPVKQ QFDWNQFRAF ARLDKKSDES LEKYFSCFVA MCRRVCRMPV KPDDEPPDLS 

      2050       2060       2070       2080       2090       2100 
SIIEPITEER ASRTLYRIEL LRKIREQVLH HPQLGERLKL CQPSLDLPEW WECGRHDRDL 

      2110       2120       2130       2140       2150       2160 
LVGAAKHGVS RTDYHILNDP ELSFLDAHKN FAQNRGAGNT SSLNPLAVGF VQTPPVISSA 

      2170       2180       2190       2200       2210       2220 
HIQDERVLEQ AEGKVEEPEN PAAKEKCEGK EEEEETDGSG KESKQECEAE ASSVKNELKG 

      2230       2240       2250       2260       2270       2280 
VEVGADTGSK SISEKGSEED EEEKLEDDDK SEESSQPEAG AVSRGKNFDE ESNASMSTAR 

      2290       2300       2310       2320       2330       2340 
DETRDGFYME DGDPSVAQLL HERTFAFSFW PKDRVMINRL DNICEAVLKG KWPVNRRQMF 

      2350       2360       2370       2380       2390       2400 
DFQGLIPGYT PTTVDSPLQK RSFAELSMVG QASISGSEDI TTSPQLSKED ALNLSVPRQR 

      2410       2420       2430       2440       2450       2460 
RRRRRKIEIE AERAAKRRNL MEMVAQLRES QVVSENGQEK VVDLSKASRE ATSSTSNFSS 

      2470       2480       2490       2500       2510       2520 
LSSKFILPNV STPVSDAFKT QMELLQAGLS RTPTRHLLNG SLVDGEPPMK RRRGRRKNVE 

      2530       2540       2550       2560       2570       2580 
GLDLLFMSHK RTSLSAEDAE VTKAFEEDIE TPPTRNIPSP GQLDPDTRIP VINLEDGTRL 

      2590       2600       2610       2620       2630       2640 
VGEDAPKNKD LVEWLKLHPT YTVDMPSYVP KNADVLFSSF QKPKQKRHRC RNPNKLDINT 

      2650       2660       2670       2680       2690       2700 
LTGEERVPVV NKRNGKKMGG AMAPPMKDLP RWLEENPEFA VAPDWTDIVK QSGFVPESMF 

      2710       2720       2730       2740       2750       2760 
DRLLTGPVVR GEGASRRGRR PKSEIARAAA AAAAVASTSG INPLLVNSLF AGMDLTSLQN 

      2770       2780       2790       2800       2810       2820 
LQNLQSLQLA GLMGFPPGLA TAATAGGDAK NPAAVLPLML PGMAGLPNVF GLGGLLNNPL 

      2830       2840       2850       2860       2870       2880 
SAATGNTTTA SSQGEPEDST SKGEEKGNEN EDENKDSEKS TDAVSAADSA NGSVGAATAP 

      2890       2900       2910       2920       2930       2940 
AGLPSNPLAF NPFLLSTMAP GLFYPSMFLP PGLGGLTLPG FPALAGLQNA VGSSEEKAAD 

      2950       2960       2970       2980       2990 
KAEGGPFKDG ETLEGSDAEE SLDKTAESSL LEDEIAQGEE LDSLDGGDEI ENNENDE 

« Hide

Isoform 2 [UniParc].

Checksum: 600C90FABADB53F9
Show »

FASTA1,138127,825
Isoform 3 (CHD7S) [UniParc].

Checksum: D28E474435F41789
Show »

FASTA1,210130,429
Isoform 4 [UniParc].

Checksum: 35E7DF356C0E4904
Show »

FASTA948101,085

References

« Hide 'large scale' references
[1]"Cloning and chracterization of a novel alternatively spliced transcript of the human putative helicase CHD7."
Colin C., Correa R.G., Tobaruella F.S., Sogayar M.C., Demasi M.A.
Submitted (OCT-2009) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), ALTERNATIVE SPLICING.
[2]"DNA sequence and analysis of human chromosome 8."
Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. expand/collapse author list , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 763-2729 (ISOFORM 1).
Tissue: Brain.
[4]"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: SEQUENCE REVISION.
[5]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 853-2997 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2305-2997 (ISOFORM 1).
Tissue: Hepatoma.
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-639 AND 763-2997 (ISOFORM 1).
Tissue: Blood, Brain, Eye, Lung, Placenta and Skin.
[7]"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.
Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Embryonic kidney.
[8]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2356; SER-2533; THR-2551 AND SER-2559, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[9]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2559, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[10]"CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome."
Batsukh T., Pieper L., Koszucka A.M., von Velsen N., Hoyer-Fender S., Elbracht M., Bergman J.E., Hoefsloot L.H., Pauli S.
Hum. Mol. Genet. 19:2858-2866(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH CHD8, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS CHARGES ARG-2091; ARG-2096 AND ARG-2108, CHARACTERIZATION OF VARIANT ILE-2102.
[11]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1874; SER-2251; SER-2395; THR-2472; SER-2533; THR-2551; SER-2559; SER-2619; SER-2956 AND SER-2961, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[12]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-637; SER-725; SER-1577; SER-1581; SER-1874; SER-2231; SER-2233; SER-2237; SER-2251; SER-2272; SER-2275; SER-2533; SER-2535; SER-2559; SER-2956 AND SER-2961, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[14]"Identification of CHD7S as a novel splicing variant of CHD7 with functions similar and antagonistic to those of the full-length CHD7L."
Kita Y., Nishiyama M., Nakayama K.I.
Genes Cells 17:536-547(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ALTERNATIVE SPLICING (ISOFORM 3), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[15]"CHD7 gene and non-syndromic cleft lip and palate."
Felix T.M., Hanshaw B.C., Mueller R., Bitoun P., Murray J.C.
Am. J. Med. Genet. A 140:2110-2114(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LEU-466; VAL-511; VAL-522; ALA-527; PRO-1745; LYS-2077; ILE-2102; MET-2112 AND CYS-2319.
[16]"Mutation update on the CHD7 gene involved in CHARGE syndrome."
Janssen N., Bergman J.E., Swertz M.A., Tranebjaerg L., Lodahl M., Schoots J., Hofstra R.M., van Ravenswaaij-Arts C.M., Hoefsloot L.H.
Hum. Mutat. 33:1149-1160(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CHARGES CYS-840; SER-1020; VAL-1028; ARG-1031; ASN-1082; ARG-1101; ARG-1214; PRO-1292; ARG-1318; HIS-1345; SER-1684; VAL-1797; HIS-1812; GLY-1812; PRO-1815; ARG-2091; ARG-2108 AND ALA-2286, VARIANTS LEU-37; CYS-72; ALA-93; PRO-99; LEU-167; LEU-238; GLU-254; GLY-286; SER-439; PRO-524; ALA-558; LYS-596; GLY-699; SER-744; ASN-812; ALA-942; HIS-944; ARG-975; SER-1081; ARG-1251; CYS-1317; SER-1594; ASP-1617; VAL-1619; VAL-1672; GLY-1866; GLY-1972; TRP-2062; PRO-2074; GLY-2097; ILE-2102; MET-2112; ASP-2118; THR-2225; THR-2259; THR-2312; ALA-2330; ARG-2366; SER-2415; GLU-2464; ASP-2488; CYS-2491; GLN-2653; VAL-2725; LEU-2750; VAL-2780; THR-2789 AND ALA-2857.
[17]"Solution structure of the BRK domains from CHD7."
Allen M.D., Religa T.L., Freund S.M., Bycroft M.
J. Mol. Biol. 371:1135-1140(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: STRUCTURE BY NMR OF 2561-2715, INTERACTION WITH CTCF.
[18]"Mutations in a new member of the chromodomain gene family cause CHARGE syndrome."
Vissers L.E.L.M., van Ravenswaaij C.M.A., Admiraal R., Hurst J.A., de Vries B.B.A., Janssen I.M., van der Vliet W.A., Huys E.H.L.P.G., de Jong P.J., Hamel B.C.J., Schoenmakers E.F.P.M., Brunner H.G., Veltman J.A., Geurts van Kessel A.
Nat. Genet. 36:955-957(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CHARGES VAL-1028 AND ARG-1257, TISSUE SPECIFICITY.
[19]"Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation."
Lalani S.R., Safiullah A.M., Fernbach S.D., Harutyunyan K.G., Thaller C., Peterson L.E., McPherson J.D., Gibbs R.A., White L.D., Hefner M., Davenport S.L.H., Graham J.M., Bacino C.A., Glass N.L., Towbin J.A., Craigen W.J., Neish S.R., Lin A.E., Belmont J.W.
Am. J. Hum. Genet. 78:303-314(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CHARGES GLY-1031; ARG-1214; PRO-1294; PRO-1815; ARG-2096 AND SER-2319.
[20]"CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis."
Gao X., Gordon D., Zhang D., Browne R., Helms C., Gillum J., Weber S., Devroy S., Swaney S., Dobbs M., Morcuende J., Sheffield V., Lovett M., Bowcock A., Herring J., Wise C.
Am. J. Hum. Genet. 80:957-965(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO IS3.
[21]"Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome."
Kim H.-G., Kurth I., Lan F., Meliciani I., Wenzel W., Eom S.H., Kang G.B., Rosenberger G., Tekin M., Ozata M., Bick D.P., Sherins R.J., Walker S.L., Shi Y., Gusella J.F., Layman L.C.
Am. J. Hum. Genet. 83:511-519(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HH5 ARG-55; PHE-834; LEU-2880 AND GLU-2948, VARIANT THR-2789.
[22]"Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability."
Jongmans M.C., Hoefsloot L.H., van der Donk K.P., Admiraal R.J., Magee A., van de Laar I., Hendriks Y., Verheij J.B., Walpole I., Brunner H.G., van Ravenswaaij C.M.
Am. J. Med. Genet. A 146:43-50(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CHARGES ARG-2108.
[23]"Mutations in the CHD7 gene: the experience of a commercial laboratory."
Bartels C.F., Scacheri C., White L., Scacheri P.C., Bale S.
Genet. Test. Mol. Biomarkers 14:881-891(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CHARGES ASP-871; VAL-1028; PRO-1294; HIS-1395; SER-1684; ARG-1739 AND ASN-2116, VARIANTS ILE-41; ARG-86; THR-103; ARG-201; MET-238; VAL-340; ALA-369; LEU-466; VAL-522; ALA-558; VAL-636; THR-699; ASN-728; SER-744; ALA-894; THR-907; MET-917; LYS-938; HIS-944; GLN-947; GLN-1203; ASP-1208; PRO-1322; CYS-1345; ARG-1416; GLN-1457; CYS-1576; SER-1617; GLU-1791; GLY-1866; THR-1950; HIS-2065; GLY-2084; ASP-2103; THR-2160; THR-2225; CYS-2319; ALA-2330; SER-2495; LEU-2527; SER-2683; CYS-2702; THR-2733; VAL-2806; ALA-2857; MET-2931 AND PHE-2984.
[24]"CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome."
Song M.H., Cho H.J., Lee H.K., Kwon T.J., Lee W.S., Oh S., Bok J., Choi J.Y., Kim U.K.
PLoS ONE 6:E24511-E24511(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CHARGES SER-2065.
[25]"Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome."
Husu E., Hove H., Farholt S., Bille M., Tranebjaerg L., Vogel I., Kreiborg S.
Clin. Genet. 83:125-134(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CHARGES SER-1684 AND GLY-2418, VARIANT GLN-2653.
[26]"CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin."
Pauli S., von Velsen N., Burfeind P., Steckel M., Manz J., Buchholz A., Borozdin W., Kohlhase J.
Clin. Genet. 81:234-239(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CHARGES SER-1020 AND ASP-1802.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
GU060498 mRNA. Translation: ACY35999.1.
AC023102 Genomic DNA. No translation available.
AC113143 Genomic DNA. No translation available.
AB037837 mRNA. Translation: BAA92654.1.
AK000364 mRNA. Translation: BAA91113.1. Different initiation.
AK000368 mRNA. Translation: BAA91116.1. Different initiation.
BC014681 mRNA. Translation: AAH14681.1. Sequence problems.
BC051264 mRNA. Translation: AAH51264.1.
BC053890 mRNA. Translation: AAH53890.1. Different initiation.
BC068000 mRNA. Translation: AAH68000.1. Different initiation.
BC080627 mRNA. Translation: AAH80627.1. Sequence problems.
BC110818 mRNA. Translation: AAI10819.1. Sequence problems.
RefSeqNP_060250.2. NM_017780.3.
XP_005251323.1. XM_005251266.1.
UniGeneHs.20395.
Hs.733236.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2CKCNMR-A2563-2622[»]
2V0ENMR-A2561-2614[»]
2V0FNMR-A2631-2715[»]
ProteinModelPortalQ9P2D1.
SMRQ9P2D1. Positions 799-1512, 1785-1817, 2563-2622, 2631-2715.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120775. 24 interactions.
DIPDIP-48685N.
IntActQ9P2D1. 3 interactions.
MINTMINT-5005703.
STRING9606.ENSP00000392028.

PTM databases

PhosphoSiteQ9P2D1.

Polymorphism databases

DMDM148877246.

Proteomic databases

PaxDbQ9P2D1.
PRIDEQ9P2D1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000423902; ENSP00000392028; ENSG00000171316. [Q9P2D1-1]
ENST00000524602; ENSP00000437061; ENSG00000171316. [Q9P2D1-4]
ENST00000525508; ENSP00000436027; ENSG00000171316. [Q9P2D1-2]
GeneID55636.
KEGGhsa:55636.
UCSCuc003xue.3. human. [Q9P2D1-1]

Organism-specific databases

CTD55636.
GeneCardsGC08P061642.
H-InvDBHIX0007533.
HGNCHGNC:20626. CHD7.
HPAHPA052241.
MIM214800. phenotype.
608765. phenotype.
608892. gene.
612370. phenotype.
neXtProtNX_Q9P2D1.
Orphanet138. CHARGE syndrome.
478. Kallmann syndrome.
432. Normosmic congenital hypogonadotropic hypogonadism.
39041. Omenn syndrome.
PharmGKBPA134948695.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0553.
HOVERGENHBG081150.
InParanoidQ9P2D1.
KOK14437.
OMASYKRQQM.
OrthoDBEOG7NSB1C.
PhylomeDBQ9P2D1.
TreeFamTF313572.

Gene expression databases

ArrayExpressQ9P2D1.
BgeeQ9P2D1.
CleanExHS_CHD7.
GenevestigatorQ9P2D1.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
InterProIPR006576. BRK_domain.
IPR023780. Chromo_domain.
IPR000953. Chromo_domain/shadow.
IPR016197. Chromodomain-like.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR001005. SANT/Myb.
IPR000330. SNF2_N.
[Graphical view]
PfamPF07533. BRK. 2 hits.
PF00385. Chromo. 2 hits.
PF00271. Helicase_C. 1 hit.
PF00176. SNF2_N. 1 hit.
[Graphical view]
SMARTSM00592. BRK. 2 hits.
SM00298. CHROMO. 2 hits.
SM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SM00717. SANT. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 2 hits.
SSF54160. SSF54160. 2 hits.
PROSITEPS50013. CHROMO_2. 2 hits.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ9P2D1.
GeneWikiCHD7.
GenomeRNAi55636.
NextBio35488982.
PROQ9P2D1.
SOURCESearch...

Entry information

Entry nameCHD7_HUMAN
AccessionPrimary (citable) accession number: Q9P2D1
Secondary accession number(s): D0VBA5 expand/collapse secondary AC list , E9PNZ2, Q05DI5, Q2TAN4, Q66K35, Q7Z6C0, Q7Z7Q2, Q9NXA0, Q9NXA3
Entry history
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: May 29, 2007
Last modified: April 16, 2014
This is version 130 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM