Q9P2D1 (CHD7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2997 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Probable transcription regulator.
Catalytic activity	ATP + H2O = ADP + phosphate.
Subunit structure	May interact with CTCF. Interacts with CHD8. Ref.9 Ref.15
Subcellular location	Nucleus Ref.9.
Tissue specificity	Widely expressed in fetal and adult tissues. Ref.16
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.9 Ref.14 Ref.16 Ref.17 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 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.18 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.19
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 process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Hypogonadotropic hypogonadism Kallmann syndrome
Domain	Coiled coil Repeat
Ligand	ATP-binding DNA-binding Nucleotide-binding
Molecular function	Chromatin regulator Helicase Hydrolase
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	T cell differentiation Inferred from mutant phenotype PubMed 17684005. Source: BHF-UCL adult heart development Inferred from electronic annotation. Source: Compara adult walking behavior Inferred from electronic annotation. Source: Compara artery morphogenesis Inferred from electronic annotation. Source: Compara blood circulation Inferred from electronic annotation. Source: Compara 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: Compara face development Inferred from mutant phenotype Ref.16. Source: BHF-UCL female genitalia development Inferred from electronic annotation. Source: Compara genitalia development Inferred from mutant phenotype Ref.16. Source: BHF-UCL heart morphogenesis Inferred from mutant phenotype Ref.16. Source: BHF-UCL in utero embryonic development Inferred from mutant phenotype Ref.16. Source: BHF-UCL inner ear morphogenesis Inferred from mutant phenotype Ref.16. Source: BHF-UCL limb development Inferred from mutant phenotype PubMed 17937444. Source: BHF-UCL nose development Inferred from mutant phenotype Ref.16. Source: BHF-UCL palate development Inferred from mutant phenotype Ref.16. Source: BHF-UCL positive regulation of multicellular organism growth Inferred from electronic annotation. Source: Compara regulation of growth hormone secretion Inferred from mutant phenotype PubMed 9556299. Source: BHF-UCL regulation of transcription, DNA-dependent Non-traceable author statement PubMed 17937444. Source: BHF-UCL retina development in camera-type eye Inferred from mutant phenotype Ref.16. Source: BHF-UCL semicircular canal morphogenesis Inferred from electronic annotation. Source: Compara sensory perception of sound Inferred from electronic annotation. Source: Compara skeletal system development Inferred from mutant phenotype PubMed 16155193. Source: BHF-UCL transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from direct assay Ref.9. Source: UniProtKB
Molecular_function	ATP 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
CHD8	Q9HCK8-2	3	EBI-3951683,EBI-4410319

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9P2D1-1)

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.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 2997

2997

Chromodomain-helicase-DNA-binding protein 7

PRO_0000080232

Regions

Domain

800 – 867

68

Chromo 1

Domain

882 – 947

66

Chromo 2

Domain

980 – 1154

175

Helicase ATP-binding

Domain

1294 – 1464

171

Helicase C-terminal

Nucleotide binding

993 – 1000

8

ATP Potential

Coiled coil

2401 – 2431

31

Potential

Motif

1105 – 1108

4

DEAH box

Compositional bias

151 – 222

72

Gln-rich

Compositional bias

383 – 568

186

Pro-rich

Compositional bias

597 – 718

122

Lys-rich

Compositional bias

1939 – 1945

7

Poly-Arg

Compositional bias

2165 – 2258

94

Glu-rich

Compositional bias

2398 – 2405

8

Poly-Arg

Compositional bias

2726 – 2736

11

Poly-Ala

Amino acid modifications

Modified residue

637

1

Phosphoserine Ref.12

Modified residue

725

1

Phosphoserine Ref.12

Modified residue

1577

1

Phosphoserine Ref.12

Modified residue

1581

1

Phosphoserine Ref.12

Modified residue

1874

1

Phosphoserine Ref.10 Ref.12

Modified residue

2231

1

Phosphoserine Ref.12

Modified residue

2233

1

Phosphoserine Ref.12

Modified residue

2237

1

Phosphoserine Ref.12

Modified residue

2251

1

Phosphoserine Ref.10 Ref.12

Modified residue

2272

1

Phosphoserine Ref.12

Modified residue

2275

1

Phosphoserine Ref.12

Modified residue

2356

1

Phosphoserine Ref.7

Modified residue

2395

1

Phosphoserine Ref.10

Modified residue

2472

1

Phosphothreonine Ref.10

Modified residue

2533

1

Phosphoserine Ref.7 Ref.10 Ref.12

Modified residue

2535

1

Phosphoserine Ref.12

Modified residue

2551

1

Phosphothreonine Ref.7 Ref.10

Modified residue

2559

1

Phosphoserine Ref.7 Ref.8 Ref.10 Ref.12

Modified residue

2619

1

Phosphoserine Ref.10

Modified residue

2956

1

Phosphoserine Ref.10 Ref.12

Modified residue

2961

1

Phosphoserine Ref.10 Ref.12

Natural variations

Alternative sequence

1127 – 1138

12

EHKVL…GTPLQ → VSDHIGDCTEPE in isoform 2.

VSP_026038

Alternative sequence

1139 – 2997

1859

Missing in isoform 2.

VSP_026039

Natural variant

37

1

M → L. Ref.14

VAR_068374

Natural variant

41

1

M → I in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068104

Natural variant

55

1

H → R in HH5; phenotype consistent with Kallmann syndrome. Ref.19

VAR_054623

Natural variant

72

1

Y → C in patients with CHARGES; unknown pathological significance. Ref.14

VAR_068375

Natural variant

86

1

P → R in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068105

Natural variant

93

1

T → A. Ref.14

VAR_068376

Natural variant

99

1

A → P in patients with CHARGES; unknown pathological significance. Ref.14

VAR_068377

Natural variant

103

1

S → T. Ref.21
Corresponds to variant rs41272435 [ dbSNP | Ensembl ].

VAR_068106

Natural variant

167

1

P → L. Ref.14

VAR_068378

Natural variant

201

1

Q → R. Ref.21

VAR_068107

Natural variant

238

1

V → L. Ref.14

VAR_068379

Natural variant

238

1

V → M in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068108

Natural variant

254

1

Q → E in patients with CHARGES; unknown pathological significance. Ref.14

VAR_068380

Natural variant

286

1

R → G. Ref.14

VAR_068381

Natural variant

340

1

M → V. Ref.21
Corresponds to variant rs41305525 [ dbSNP | Ensembl ].

VAR_048731

Natural variant

369

1

P → A. Ref.21

VAR_068109

Natural variant

439

1

P → S in patients with CHARGES; unknown pathological significance. Ref.14

VAR_068382

Natural variant

466

1

S → L. Ref.13 Ref.21
Corresponds to variant rs71640285 [ dbSNP | Ensembl ].

VAR_068110

Natural variant

511

1

L → V. Ref.13

VAR_069032

Natural variant

522

1

G → V. Ref.13 Ref.21
Corresponds to variant rs142962579 [ dbSNP | Ensembl ].

VAR_068111

Natural variant

524

1

H → P. Ref.14

VAR_068383

Natural variant

527

1

S → A. Ref.13

VAR_069033

Natural variant

558

1

P → A in a patient with CHARGES; unknown pathological significance. Ref.14 Ref.21

VAR_068112

Natural variant

596

1

Q → K. Ref.14

VAR_068384

Natural variant

636

1

G → V. Ref.21

VAR_068113

Natural variant

699

1

S → G in patients with CHARGES; unknown pathological significance. Ref.14

VAR_068385

Natural variant

699

1

S → T in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068114

Natural variant

728

1

D → N in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068115

Natural variant

744

1

G → S. Ref.14 Ref.21
Corresponds to variant rs141947938 [ dbSNP | Ensembl ].

VAR_068116

Natural variant

812

1

K → N. Ref.14

VAR_068386

Natural variant

834

1

S → F in HH5; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism. Ref.19

VAR_054624

Natural variant

840

1

W → C in CHARGES. Ref.14

VAR_068387

Natural variant

871

1

E → D in CHARGES. Ref.21

VAR_068117

Natural variant

894

1

T → A in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068118

Natural variant

907

1

K → T in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068119

Natural variant

917

1

T → M in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068120

Natural variant

938

1

R → K in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068121

Natural variant

942

1

T → A in patients with CHARGES; unknown pathological significance. Ref.14

VAR_068388

Natural variant

944

1

R → H in a patient with CHARGES; unknown pathological significance. Ref.14 Ref.21
Corresponds to variant rs117506164 [ dbSNP | Ensembl ].

VAR_068122

Natural variant

947

1

R → Q in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068123

Natural variant

975

1

G → R in patients with CHARGES; unknown pathological significance. Ref.14

VAR_068389

Natural variant

1020

1

L → S in CHARGES. Ref.14 Ref.24

VAR_068124

Natural variant

1028

1

I → V in CHARGES. Ref.14 Ref.16 Ref.21

VAR_021059

Natural variant

1031

1

W → G in CHARGES. Ref.17

VAR_033245

Natural variant

1031

1

W → R in CHARGES. Ref.14

VAR_068390

Natural variant

1081

1

I → S in patients with CHARGES; unknown pathological significance. Ref.14

VAR_068391

Natural variant

1082

1

T → N in CHARGES. Ref.14

VAR_068392

Natural variant

1101

1

C → R in CHARGES. Ref.14

VAR_068393

Natural variant

1203

1

E → Q in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068125

Natural variant

1208

1

V → D in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068126

Natural variant

1214

1

Q → R in CHARGES. Ref.14 Ref.17

VAR_033246

Natural variant

1251

1

C → R in patients with CHARGES; unknown pathological significance. Ref.14

VAR_068394

Natural variant

1257

1

L → R in CHARGES. Ref.16

VAR_021060

Natural variant

1292

1

L → P in CHARGES. Ref.14

VAR_068395

Natural variant

1294

1

L → P in CHARGES. Ref.17 Ref.21

VAR_033247

Natural variant

1317

1

R → C in patients with CHARGES; unknown pathological significance. Ref.14

VAR_068396

Natural variant

1318

1

C → R in CHARGES. Ref.14

VAR_068397

Natural variant

1322

1

L → P in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068127

Natural variant

1345

1

R → C in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068128

Natural variant

1345

1

R → H in CHARGES. Ref.14

VAR_068398

Natural variant

1395

1

Q → H in CHARGES. Ref.21

VAR_068129

Natural variant

1416

1

T → R in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068130

Natural variant

1457

1

K → Q in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068131

Natural variant

1576

1

F → C in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068132

Natural variant

1594

1

P → S. Ref.14

VAR_068399

Natural variant

1617

1

G → D in patients with CHARGES; unknown pathological significance. Ref.14

VAR_068400

Natural variant

1617

1

G → S in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068133

Natural variant

1619

1

G → V in patients with CHARGES; unknown pathological significance. Ref.14

VAR_068401

Natural variant

1672

1

A → V. Ref.14

VAR_068402

Natural variant

1684

1

G → S in CHARGES. Ref.14 Ref.21 Ref.23

VAR_068134

Natural variant

1739

1

L → R in CHARGES. Ref.21

VAR_068135

Natural variant

1745

1

L → P Found in a patient with CHARGES; unknown pathological significance. Ref.13

VAR_069034

Natural variant

1791

1

D → E in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068136

Natural variant

1797

1

G → V in CHARGES. Ref.14

VAR_068403

Natural variant

1802

1

G → D in CHARGES. Ref.24

VAR_068137

Natural variant

1812

1

D → G in CHARGES. Ref.14

VAR_068404

Natural variant

1812

1

D → H in CHARGES. Ref.14

VAR_068405

Natural variant

1815

1

L → P in CHARGES. Ref.14 Ref.17

VAR_033248

Natural variant

1866

1

D → G in a patient with CHARGES; unknown pathological significance. Ref.14 Ref.21

VAR_068138

Natural variant

1950

1

A → T in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068139

Natural variant

1972

1

A → G. Ref.14

VAR_068406

Natural variant

2062

1

R → W. Ref.14

VAR_068407

Natural variant

2065

1

R → H in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068140

Natural variant

2065

1

R → S in CHARGES. Ref.22

VAR_068141

Natural variant

2074

1

L → P in patients with CHARGES; unknown pathological significance. Ref.14

VAR_068408

Natural variant

2077

1

R → K Found in a patient with cleft lip and palate; unknown pathological significance. Ref.13

VAR_069035

Natural variant

2084

1

S → G in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068142

Natural variant

2091

1

W → R in CHARGES; no effect on interaction with CHD8. Ref.9 Ref.14

VAR_068409

Natural variant

2096

1

H → R in CHARGES; no effect on interaction with CHD8. Ref.9 Ref.17

VAR_033249

Natural variant

2097

1

D → G in patients with CHARGES; unknown pathological significance. Ref.14

VAR_068410

Natural variant

2102

1

V → I Found in a patient with CHARGES; unknown pathological significance; has no effect on interaction with CHD8. Ref.9 Ref.13 Ref.14

VAR_068411

Natural variant

2103

1

G → D in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068143

Natural variant

2108

1

G → R in CHARGES; has no effect on interaction with CHD8. Ref.9 Ref.14 Ref.20

VAR_068144

Natural variant

2112

1

T → M Found in a patient with cleft lip and palate; unknown pathological significance. Ref.13 Ref.14

VAR_068412

Natural variant

2116

1

I → N in CHARGES. Ref.21

VAR_068145

Natural variant

2118

1

N → D. Ref.14

VAR_068413

Natural variant

2160

1

A → T. Ref.21
Corresponds to variant rs61753399 [ dbSNP | Ensembl ].

VAR_068146

Natural variant

2225

1

A → T. Ref.14 Ref.21

VAR_068147

Natural variant

2259

1

A → T in patients with CHARGES; unknown pathological significance. Ref.14

VAR_068414

Natural variant

2286

1

G → A in CHARGES. Ref.14

VAR_068415

Natural variant

2312

1

K → T in patients with CHARGES; unknown pathological significance. Ref.14

VAR_068416

Natural variant

2319

1

R → C Found in patients with CHARGES; unknown pathological significance. Ref.13 Ref.21

VAR_068148

Natural variant

2319

1

R → S in CHARGES. Ref.17

VAR_033250

Natural variant

2330

1

G → A. Ref.14 Ref.21
Corresponds to variant rs77704609 [ dbSNP | Ensembl ].

VAR_068149

Natural variant

2366

1

L → R in patients with CHARGES; unknown pathological significance. Ref.14

VAR_068417

Natural variant

2415

1

A → S. Ref.14

VAR_068418

Natural variant

2418

1

R → G in CHARGES. Ref.23

VAR_068150

Natural variant

2464

1

K → E in patients with CHARGES; unknown pathological significance. Ref.14

VAR_068419

Natural variant

2488

1

G → D. Ref.14

VAR_068420

Natural variant

2491

1

R → C. Ref.14

VAR_068421

Natural variant

2495

1

R → S in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068151

Natural variant

2527

1

M → L. Ref.21
Corresponds to variant rs192129249 [ dbSNP | Ensembl ].

VAR_068152

Natural variant

2653

1

R → Q. Ref.14 Ref.23

VAR_068153

Natural variant

2683

1

P → S in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068154

Natural variant

2702

1

R → C in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068155

Natural variant

2725

1

I → V. Ref.14

VAR_068422

Natural variant

2733

1

A → T in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068156

Natural variant

2750

1

F → L. Ref.14
Corresponds to variant rs3750308 [ dbSNP | Ensembl ].

VAR_033251

Natural variant

2780

1

A → V. Ref.14

VAR_068423

Natural variant

2789

1

A → T. Ref.14 Ref.19

VAR_054625

Natural variant

2806

1

L → V. Ref.21
Corresponds to variant rs45521933 [ dbSNP | Ensembl ].

VAR_068157

Natural variant

2857

1

S → A. Ref.14 Ref.21

VAR_068158

Natural variant

2880

1

P → L in HH5; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism. Ref.19

VAR_054626

Natural variant

2931

1

V → M in a patient with CHARGES; unknown pathological significance. Ref.21

VAR_068159

Natural variant

2948

1

K → E in HH5; phenotype consistent with Kallmann syndrome. Ref.19

VAR_054627

Natural variant

2984

1

L → F. Ref.21
Corresponds to variant rs184814820 [ dbSNP | Ensembl ].

VAR_068160

Experimental info

Sequence conflict

915

1

D → G in BAA91116. Ref.4

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

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.

.

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.

2997

Helix Strand Turn

Details...

Beta strand

2571 – 2573

3

Turn

2574 – 2577

4

Beta strand

2578 – 2580

3

Helix

2582 – 2584

3

Helix

2588 – 2597

10

Beta strand

2601 – 2604

4

Turn

2612 – 2615

4

Helix

2633 – 2635

3

Helix

2638 – 2640

3

Turn

2641 – 2644

4

Beta strand

2649 – 2654

6

Beta strand

2660 – 2663

4

Helix

2666 – 2668

3

Helix

2669 – 2675

7

Beta strand

2679 – 2681

3

Helix

2683 – 2692

10

Beta strand

2693 – 2695

3

Helix

2697 – 2702

6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 29, 2007. Version 3. Checksum: 5C22675169665CC0	FASTA	2,997	335,927
	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
	Isoform 2 [UniParc]. Checksum: 600C90FABADB53F9	FASTA	1,138	127,825
	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 ITTFEMILTD CPELRNIPWR CVVIDEAHRL KNRNCKLLEG LKMMDLVSDH IGDCTEPE

References

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[1]	"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. , 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].
[2]	"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.
[3]	"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.
[4]	"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. , 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.
[5]	"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.
[6]	"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.
[7]	"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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[8]	"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, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[9]	"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.
[10]	"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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[11]	"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].
[12]	"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, MASS SPECTROMETRY.
[13]	"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.
[14]	"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.
[15]	"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.
[16]	"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.
[17]	"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.
[18]	"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.
[19]	"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.
[20]	"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.
[21]	"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.
[22]	"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.
[23]	"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.
[24]	"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.

Web resources

GeneReviews

CHD7 database

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.

IPI

IPI00472901.
IPI00794880.

RefSeq

NP_060250.2. NM_017780.3.

UniGene

Hs.20395.
Hs.733236.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2CKC	NMR	-	A	2563-2622	[»]
2V0E	NMR	-	A	2561-2614	[»]
2V0F	NMR	-	A	2631-2715	[»]

ProteinModelPortal

Q9P2D1.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-48685N.

IntAct

Q9P2D1. 2 interactions.

STRING

9606.ENSP00000392028.

PTM databases

PhosphoSite

Q9P2D1.

Polymorphism databases

DMDM

148877246.

Proteomic databases

PaxDb

Q9P2D1.

PRIDE

Q9P2D1.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000307121; ENSP00000307304; ENSG00000171316.
ENST00000423902; ENSP00000392028; ENSG00000171316.
ENST00000525508; ENSP00000436027; ENSG00000171316.

GeneID

55636.

KEGG

hsa:55636.

UCSC

uc003xue.3. human.

Organism-specific databases

CTD

55636.

GeneCards

GC08P061642.

H-InvDB

HIX0007533.

HGNC

HGNC:20626. CHD7.

MIM

214800. phenotype.
608765. phenotype.
608892. gene.
612370. phenotype.

neXtProt

NX_Q9P2D1.

Orphanet

138. CHARGE syndrome.
478. Kallmann syndrome.
432. Normosmic congenital hypogonadotropic hypogonadism.

PharmGKB

PA134948695.

HUGE

Search...

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG0553.

HOVERGEN

HBG081150.

InParanoid

Q9P2D1.

KO

K14437.

OMA

TFGVIFD.

OrthoDB

EOG4MCWZD.

Gene expression databases

ArrayExpress

Q9P2D1.

Bgee

Q9P2D1.

CleanEx

HS_CHD7.

Genevestigator

Q9P2D1.

GermOnline

ENSG00000171316. Homo sapiens.

Family and domain databases

InterPro

IPR006576. BRK_domain.
IPR023780. Chromo_domain.
IPR000953. Chromo_domain/shadow.
IPR016197. Chromodomain-like.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR001005. SANT/Myb.
IPR000330. SNF2_N.
[Graphical view]

Pfam

PF07533. BRK. 2 hits.
PF00385. Chromo. 2 hits.
PF00271. Helicase_C. 1 hit.
PF00176. SNF2_N. 1 hit.
[Graphical view]

SMART

SM00592. BRK. 2 hits.
SM00298. CHROMO. 2 hits.
SM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SM00717. SANT. 1 hit.
[Graphical view]

SUPFAM

SSF54160. Chromodomain-like. 1 hit.

PROSITE

PS00598. CHROMO_1. False negative.
PS50013. CHROMO_2. 2 hits.
PS00690. DEAH_ATP_HELICASE. False negative.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

Q9P2D1.

GenomeRNAi

55636.

NextBio

60291.

SOURCE

Search...

Entry information

Entry name

CHD7_HUMAN

Accession

Primary (citable) accession number: Q9P2D1
Secondary accession number(s): 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:	May 1, 2013
This is version 120 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.