SubmitCancel

Skip Header

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

Q9P2D1

- CHD7_HUMAN

UniProt

Q9P2D1 - CHD7_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Chromodomain-helicase-DNA-binding protein 7
Gene
CHD7, KIAA1416
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi993 – 10008ATP Reviewed prediction

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. DNA binding Source: UniProtKB-KW
  3. chromatin binding Source: BHF-UCL
  4. helicase activity Source: UniProtKB-KW
  5. protein binding Source: UniProtKB

GO - Biological processi

  1. T cell differentiation Source: BHF-UCL
  2. adult heart development Source: Ensembl
  3. adult walking behavior Source: Ensembl
  4. artery morphogenesis Source: Ensembl
  5. blood circulation Source: Ensembl
  6. central nervous system development Source: BHF-UCL
  7. chromatin modification Source: UniProtKB-KW
  8. cognition Source: BHF-UCL
  9. cranial nerve development Source: BHF-UCL
  10. embryonic hindlimb morphogenesis Source: Ensembl
  11. face development Source: BHF-UCL
  12. female genitalia development Source: Ensembl
  13. genitalia development Source: BHF-UCL
  14. heart morphogenesis Source: BHF-UCL
  15. in utero embryonic development Source: BHF-UCL
  16. inner ear morphogenesis Source: BHF-UCL
  17. limb development Source: BHF-UCL
  18. nose development Source: BHF-UCL
  19. palate development Source: BHF-UCL
  20. positive regulation of multicellular organism growth Source: Ensembl
  21. rRNA processing Source: UniProtKB-KW
  22. regulation of growth hormone secretion Source: BHF-UCL
  23. regulation of transcription, DNA-templated Source: BHF-UCL
  24. retina development in camera-type eye Source: BHF-UCL
  25. semicircular canal morphogenesis Source: Ensembl
  26. sensory perception of sound Source: Ensembl
  27. skeletal system development Source: BHF-UCL
  28. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Chromatin regulator, Helicase, Hydrolase

Keywords - Biological processi

rRNA processing, Transcription, Transcription regulation

Keywords - Ligandi

ATP-binding, DNA-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Chromodomain-helicase-DNA-binding protein 7 (EC:3.6.4.12)
Short name:
CHD-7
Alternative name(s):
ATP-dependent helicase CHD7
Gene namesi
Name:CHD7
Synonyms:KIAA1416
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:20626. CHD7.

Subcellular locationi

Isoform 1 : Nucleus 2 Publications
Isoform 3 : Nucleusnucleolus 2 Publications

GO - Cellular componenti

  1. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.9 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti41 – 411M → I in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068104
Natural varianti72 – 721Y → C in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068375
Natural varianti86 – 861P → R in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068105
Natural varianti99 – 991A → P in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068377
Natural varianti238 – 2381V → M in a patient with CHARGES; unknown pathological significance. 1 Publication
Corresponds to variant rs200898742 [ dbSNP | Ensembl ].
VAR_068108
Natural varianti254 – 2541Q → E in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068380
Natural varianti439 – 4391P → S in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068382
Natural varianti558 – 5581P → A in a patient with CHARGES; unknown pathological significance. 2 Publications
VAR_068112
Natural varianti699 – 6991S → G in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068385
Natural varianti699 – 6991S → T in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068114
Natural varianti728 – 7281D → N in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068115
Natural varianti840 – 8401W → C in CHARGES. 1 Publication
VAR_068387
Natural varianti871 – 8711E → D in CHARGES. 1 Publication
VAR_068117
Natural varianti894 – 8941T → A in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068118
Natural varianti907 – 9071K → T in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068119
Natural varianti917 – 9171T → M in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068120
Natural varianti938 – 9381R → K in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068121
Natural varianti942 – 9421T → A in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068388
Natural varianti944 – 9441R → H in a patient with CHARGES; unknown pathological significance. 2 Publications
Corresponds to variant rs117506164 [ dbSNP | Ensembl ].
VAR_068122
Natural varianti947 – 9471R → Q in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068123
Natural varianti975 – 9751G → R in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068389
Natural varianti1020 – 10201L → S in CHARGES. 2 Publications
VAR_068124
Natural varianti1028 – 10281I → V in CHARGES. 3 Publications
VAR_021059
Natural varianti1031 – 10311W → G in CHARGES. 1 Publication
VAR_033245
Natural varianti1031 – 10311W → R in CHARGES. 1 Publication
VAR_068390
Natural varianti1081 – 10811I → S in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068391
Natural varianti1082 – 10821T → N in CHARGES. 1 Publication
VAR_068392
Natural varianti1101 – 11011C → R in CHARGES. 1 Publication
VAR_068393
Natural varianti1203 – 12031E → Q in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068125
Natural varianti1208 – 12081V → D in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068126
Natural varianti1214 – 12141Q → R in CHARGES. 2 Publications
VAR_033246
Natural varianti1251 – 12511C → R in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068394
Natural varianti1257 – 12571L → R in CHARGES. 1 Publication
VAR_021060
Natural varianti1292 – 12921L → P in CHARGES. 1 Publication
VAR_068395
Natural varianti1294 – 12941L → P in CHARGES. 2 Publications
VAR_033247
Natural varianti1317 – 13171R → C in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068396
Natural varianti1318 – 13181C → R in CHARGES. 1 Publication
VAR_068397
Natural varianti1322 – 13221L → P in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068127
Natural varianti1345 – 13451R → C in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068128
Natural varianti1345 – 13451R → H in CHARGES. 1 Publication
VAR_068398
Natural varianti1395 – 13951Q → H in CHARGES. 1 Publication
VAR_068129
Natural varianti1416 – 14161T → R in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068130
Natural varianti1457 – 14571K → Q in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068131
Natural varianti1576 – 15761F → C in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068132
Natural varianti1617 – 16171G → D in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068400
Natural varianti1617 – 16171G → S in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068133
Natural varianti1619 – 16191G → V in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068401
Natural varianti1684 – 16841G → S in CHARGES. 3 Publications
VAR_068134
Natural varianti1739 – 17391L → R in CHARGES. 1 Publication
VAR_068135
Natural varianti1745 – 17451L → P Found in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_069034
Natural varianti1791 – 17911D → E in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068136
Natural varianti1797 – 17971G → V in CHARGES. 1 Publication
VAR_068403
Natural varianti1802 – 18021G → D in CHARGES. 1 Publication
VAR_068137
Natural varianti1812 – 18121D → G in CHARGES. 1 Publication
VAR_068404
Natural varianti1812 – 18121D → H in CHARGES. 1 Publication
VAR_068405
Natural varianti1815 – 18151L → P in CHARGES. 2 Publications
VAR_033248
Natural varianti1866 – 18661D → G in a patient with CHARGES; unknown pathological significance. 2 Publications
VAR_068138
Natural varianti1950 – 19501A → T in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068139
Natural varianti2065 – 20651R → H in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068140
Natural varianti2065 – 20651R → S in CHARGES. 1 Publication
VAR_068141
Natural varianti2074 – 20741L → P in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068408
Natural varianti2084 – 20841S → G in a patient with CHARGES; unknown pathological significance. 1 Publication
Corresponds to variant rs201083157 [ dbSNP | Ensembl ].
VAR_068142
Natural varianti2091 – 20911W → R in CHARGES; no effect on interaction with CHD8. 2 Publications
VAR_068409
Natural varianti2096 – 20961H → R in CHARGES; no effect on interaction with CHD8. 2 Publications
VAR_033249
Natural varianti2097 – 20971D → G in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068410
Natural varianti2102 – 21021V → I Found in a patient with CHARGES; unknown pathological significance; has no effect on interaction with CHD8. 3 Publications
VAR_068411
Natural varianti2103 – 21031G → D in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068143
Natural varianti2108 – 21081G → R in CHARGES; has no effect on interaction with CHD8. 3 Publications
VAR_068144
Natural varianti2116 – 21161I → N in CHARGES. 1 Publication
VAR_068145
Natural varianti2259 – 22591A → T in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068414
Natural varianti2286 – 22861G → A in CHARGES. 1 Publication
VAR_068415
Natural varianti2312 – 23121K → T in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068416
Natural varianti2319 – 23191R → C Found in patients with CHARGES; unknown pathological significance. 2 Publications
VAR_068148
Natural varianti2319 – 23191R → S in CHARGES. 1 Publication
VAR_033250
Natural varianti2366 – 23661L → R in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068417
Natural varianti2418 – 24181R → G in CHARGES. 1 Publication
VAR_068150
Natural varianti2464 – 24641K → E in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068419
Natural varianti2495 – 24951R → S in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068151
Natural varianti2683 – 26831P → S in a patient with CHARGES; unknown pathological significance. 1 Publication
Corresponds to variant rs201319489 [ dbSNP | Ensembl ].
VAR_068154
Natural varianti2702 – 27021R → C in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068155
Natural varianti2733 – 27331A → T in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068156
Natural varianti2931 – 29311V → M in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068159
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.1 Publication
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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti55 – 551H → R in HH5; phenotype consistent with Kallmann syndrome. 1 Publication
VAR_054623
Natural varianti834 – 8341S → F in HH5; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism. 1 Publication
VAR_054624
Natural varianti2880 – 28801P → L in HH5; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism. 1 Publication
VAR_054626
Natural varianti2948 – 29481K → E in HH5; phenotype consistent with Kallmann syndrome. 1 Publication
VAR_054627

Keywords - Diseasei

Disease mutation, Hypogonadotropic hypogonadism, Kallmann syndrome

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 29972997Chromodomain-helicase-DNA-binding protein 7
PRO_0000080232Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei637 – 6371Phosphoserine1 Publication
Modified residuei725 – 7251Phosphoserine1 Publication
Modified residuei1577 – 15771Phosphoserine1 Publication
Modified residuei1581 – 15811Phosphoserine1 Publication
Modified residuei1874 – 18741Phosphoserine2 Publications
Modified residuei2231 – 22311Phosphoserine1 Publication
Modified residuei2233 – 22331Phosphoserine1 Publication
Modified residuei2237 – 22371Phosphoserine1 Publication
Modified residuei2251 – 22511Phosphoserine2 Publications
Modified residuei2272 – 22721Phosphoserine1 Publication
Modified residuei2275 – 22751Phosphoserine1 Publication
Modified residuei2356 – 23561Phosphoserine1 Publication
Modified residuei2395 – 23951Phosphoserine1 Publication
Modified residuei2472 – 24721Phosphothreonine1 Publication
Modified residuei2533 – 25331Phosphoserine3 Publications
Modified residuei2535 – 25351Phosphoserine1 Publication
Modified residuei2551 – 25511Phosphothreonine2 Publications
Modified residuei2559 – 25591Phosphoserine4 Publications
Modified residuei2619 – 26191Phosphoserine1 Publication
Modified residuei2956 – 29561Phosphoserine2 Publications
Modified residuei2961 – 29611Phosphoserine2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9P2D1.
PaxDbiQ9P2D1.
PRIDEiQ9P2D1.

PTM databases

PhosphoSiteiQ9P2D1.

Expressioni

Tissue specificityi

Widely expressed in fetal and adult tissues.2 Publications

Gene expression databases

ArrayExpressiQ9P2D1.
BgeeiQ9P2D1.
CleanExiHS_CHD7.
GenevestigatoriQ9P2D1.

Organism-specific databases

HPAiHPA052241.

Interactioni

Subunit structurei

May interact with CTCF. Interacts with CHD8.2 Publications

Binary interactionsi

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

Protein-protein interaction databases

BioGridi120775. 24 interactions.
DIPiDIP-48685N.
IntActiQ9P2D1. 3 interactions.
MINTiMINT-5005703.
STRINGi9606.ENSP00000392028.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi2571 – 25733
Turni2574 – 25774
Beta strandi2578 – 25803
Helixi2582 – 25843
Helixi2588 – 259710
Beta strandi2601 – 26044
Turni2612 – 26154
Helixi2633 – 26353
Helixi2638 – 26403
Turni2641 – 26444
Beta strandi2649 – 26546
Beta strandi2660 – 26634
Helixi2666 – 26683
Helixi2669 – 26757
Beta strandi2679 – 26813
Helixi2683 – 269210
Beta strandi2693 – 26953
Helixi2697 – 27026

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2CKCNMR-A2563-2622[»]
2V0ENMR-A2561-2614[»]
2V0FNMR-A2631-2715[»]
ProteinModelPortaliQ9P2D1.
SMRiQ9P2D1. Positions 825-1464, 2563-2622, 2631-2715.

Miscellaneous databases

EvolutionaryTraceiQ9P2D1.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini800 – 86768Chromo 1
Add
BLAST
Domaini882 – 94766Chromo 2
Add
BLAST
Domaini980 – 1154175Helicase ATP-binding
Add
BLAST
Domaini1294 – 1464171Helicase C-terminal
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili2401 – 243131 Reviewed prediction
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi1105 – 11084DEAH box

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi151 – 22272Gln-rich
Add
BLAST
Compositional biasi383 – 568186Pro-rich
Add
BLAST
Compositional biasi597 – 718122Lys-rich
Add
BLAST
Compositional biasi1939 – 19457Poly-Arg
Compositional biasi2165 – 225894Glu-rich
Add
BLAST
Compositional biasi2398 – 24058Poly-Arg
Compositional biasi2726 – 273611Poly-Ala
Add
BLAST

Sequence similaritiesi

Contains 2 chromo domains.

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiCOG0553.
HOVERGENiHBG081150.
InParanoidiQ9P2D1.
KOiK14437.
OMAiSYKRQQM.
OrthoDBiEOG7NSB1C.
PhylomeDBiQ9P2D1.
TreeFamiTF313572.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR006576. 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]
PfamiPF07533. BRK. 2 hits.
PF00385. Chromo. 2 hits.
PF00271. Helicase_C. 1 hit.
PF00176. SNF2_N. 1 hit.
[Graphical view]
SMARTiSM00592. BRK. 2 hits.
SM00298. CHROMO. 2 hits.
SM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SM00717. SANT. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
SSF54160. SSF54160. 2 hits.
PROSITEiPS50013. CHROMO_2. 2 hits.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9P2D1-1) [UniParc]FASTAAdd to Basket

Also known as: CHD7L

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

« Hide

MADPGMMSLF GEDGNIFSEG LEGLGECGYP ENPVNPMGQQ MPIDQGFASL     50
QPSLHHPSTN QNQTKLTHFD HYNQYEQQKM HLMDQPNRMM SNTPGNGLAS 100
PHSQYHTPPV PQVPHGGSGG GQMGVYPGMQ NERHGQSFVD SSSMWGPRAV 150
QVPDQIRAPY QQQQPQPQPP QPAPSGPPAQ GHPQHMQQMG SYMARGDFSM 200
QQHGQPQQRM SQFSQGQEGL NQGNPFIATS GPGHLSHVPQ QSPSMAPSLR 250
HSVQQFHHHP STALHGESVA HSPRFSPNPP QQGAVRPQTL NFSSRSQTVP 300
SPTINNSGQY SRYPYSNLNQ GLVNNTGMNQ NLGLTNNTPM NQSVPRYPNA 350
VGFPSNSGQG LMHQQPIHPS GSLNQMNTQT MHPSQPQGTY ASPPPMSPMK 400
AMSNPAGTPP PQVRPGSAGI PMEVGSYPNM PHPQPSHQPP GAMGIGQRNM 450
GPRNMQQSRP FIGMSSAPRE LTGHMRPNGC PGVGLGDPQA IQERLIPGQQ 500
HPGQQPSFQQ LPTCPPLQPH PGLHHQSSPP HPHHQPWAQL HPSPQNTPQK 550
VPVHQHSPSE PFLEKPVPDM TQVSGPNAQL VKSDDYLPSI EQQPQQKKKK 600
KKNNHIVAED PSKGFGKDDF PGGVDNQELN RNSLDGSQEE KKKKKRSKAK 650
KDPKEPKEPK EKKEPKEPKT PKAPKIPKEP KEKKAKTATP KPKSSKKSSN 700
KKPDSEASAL KKKVNKGKTE GSENSDLDKT PPPSPPPEED EDPGVQKRRS 750
SRQVKRKRYT EDLEFKISDE EADDADAAGR DSPSNTSQSE QQESVDAEGP 800
VVEKIMSSRS VKKQKESGEE VEIEEFYVKY KNFSYLHCQW ASIEDLEKDK 850
RIQQKIKRFK AKQGQNKFLS EIEDELFNPD YVEVDRIMDF ARSTDDRGEP 900
VTHYLVKWCS LPYEDSTWER RQDIDQAKIE EFEKLMSREP ETERVERPPA 950
DDWKKSESSR EYKNNNKLRE YQLEGVNWLL FNWYNMRNCI LADEMGLGKT 1000
IQSITFLYEI YLKGIHGPFL VIAPLSTIPN WEREFRTWTE LNVVVYHGSQ 1050
ASRRTIQLYE MYFKDPQGRV IKGSYKFHAI ITTFEMILTD CPELRNIPWR 1100
CVVIDEAHRL KNRNCKLLEG LKMMDLEHKV LLTGTPLQNT VEELFSLLHF 1150
LEPSRFPSET TFMQEFGDLK TEEQVQKLQA ILKPMMLRRL KEDVEKNLAP 1200
KEETIIEVEL TNIQKKYYRA ILEKNFTFLS KGGGQANVPN LLNTMMELRK 1250
CCNHPYLING AEEKILEEFK ETHNAESPDF QLQAMIQAAG KLVLIDKLLP 1300
KLKAGGHRVL IFSQMVRCLD ILEDYLIQRR YPYERIDGRV RGNLRQAAID 1350
RFSKPDSDRF VFLLCTRAGG LGINLTAADT CIIFDSDWNP QNDLQAQARC 1400
HRIGQSKSVK IYRLITRNSY EREMFDKASL KLGLDKAVLQ SMSGRENATN 1450
GVQQLSKKEI EDLLRKGAYG ALMDEEDEGS KFCEEDIDQI LLRRTHTITI 1500
ESEGKGSTFA KASFVASGNR TDISLDDPNF WQKWAKKAEL DIDALNGRNN 1550
LVIDTPRVRK QTRLYSAVKE DELMEFSDLE SDSEEKPCAK PRRPQDKSQG 1600
YARSECFRVE KNLLVYGWGR WTDILSHGRY KRQLTEQDVE TICRTILVYC 1650
LNHYKGDENI KSFIWDLITP TADGQTRALV NHSGLSAPVP RGRKGKKVKA 1700
QSTQPVVQDA DWLASCNPDA LFQEDSYKKH LKHHCNKVLL RVRMLYYLRQ 1750
EVIGDQADKI LEGADSSEAD VWIPEPFHAE VPADWWDKEA DKSLLIGVFK 1800
HGYEKYNSMR ADPALCFLER VGMPDAKAIA AEQRGTDMLA DGGDGGEFDR 1850
EDEDPEYKPT RTPFKDEIDE FANSPSEDKE ESMEIHATGK HSESNAELGQ 1900
LYWPNTSTLT TRLRRLITAY QRSYKRQQMR QEALMKTDRR RRRPREEVRA 1950
LEAEREAIIS EKRQKWTRRE EADFYRVVST FGVIFDPVKQ QFDWNQFRAF 2000
ARLDKKSDES LEKYFSCFVA MCRRVCRMPV KPDDEPPDLS SIIEPITEER 2050
ASRTLYRIEL LRKIREQVLH HPQLGERLKL CQPSLDLPEW WECGRHDRDL 2100
LVGAAKHGVS RTDYHILNDP ELSFLDAHKN FAQNRGAGNT SSLNPLAVGF 2150
VQTPPVISSA HIQDERVLEQ AEGKVEEPEN PAAKEKCEGK EEEEETDGSG 2200
KESKQECEAE ASSVKNELKG VEVGADTGSK SISEKGSEED EEEKLEDDDK 2250
SEESSQPEAG AVSRGKNFDE ESNASMSTAR DETRDGFYME DGDPSVAQLL 2300
HERTFAFSFW PKDRVMINRL DNICEAVLKG KWPVNRRQMF DFQGLIPGYT 2350
PTTVDSPLQK RSFAELSMVG QASISGSEDI TTSPQLSKED ALNLSVPRQR 2400
RRRRRKIEIE AERAAKRRNL MEMVAQLRES QVVSENGQEK VVDLSKASRE 2450
ATSSTSNFSS LSSKFILPNV STPVSDAFKT QMELLQAGLS RTPTRHLLNG 2500
SLVDGEPPMK RRRGRRKNVE GLDLLFMSHK RTSLSAEDAE VTKAFEEDIE 2550
TPPTRNIPSP GQLDPDTRIP VINLEDGTRL VGEDAPKNKD LVEWLKLHPT 2600
YTVDMPSYVP KNADVLFSSF QKPKQKRHRC RNPNKLDINT LTGEERVPVV 2650
NKRNGKKMGG AMAPPMKDLP RWLEENPEFA VAPDWTDIVK QSGFVPESMF 2700
DRLLTGPVVR GEGASRRGRR PKSEIARAAA AAAAVASTSG INPLLVNSLF 2750
AGMDLTSLQN LQNLQSLQLA GLMGFPPGLA TAATAGGDAK NPAAVLPLML 2800
PGMAGLPNVF GLGGLLNNPL SAATGNTTTA SSQGEPEDST SKGEEKGNEN 2850
EDENKDSEKS TDAVSAADSA NGSVGAATAP AGLPSNPLAF NPFLLSTMAP 2900
GLFYPSMFLP PGLGGLTLPG FPALAGLQNA VGSSEEKAAD KAEGGPFKDG 2950
ETLEGSDAEE SLDKTAESSL LEDEIAQGEE LDSLDGGDEI ENNENDE 2997
Length:2,997
Mass (Da):335,927
Last modified:May 29, 2007 - v3
Checksum:i5C22675169665CC0
GO
Isoform 2 (identifier: Q9P2D1-2) [UniParc]FASTAAdd to Basket

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

Note: May be due to an intron retention.

Show »
Length:1,138
Mass (Da):127,825
Checksum:i600C90FABADB53F9
GO
Isoform 3 (identifier: Q9P2D1-3) [UniParc]FASTAAdd to Basket

Also known as: CHD7S

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

Note: Ubiquitous, expression enriched in lung and large intestine.

Show »
Length:1,210
Mass (Da):130,429
Checksum:iD28E474435F41789
GO
Isoform 4 (identifier: Q9P2D1-4) [UniParc]FASTAAdd to Basket

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

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

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti37 – 371M → L.1 Publication
VAR_068374
Natural varianti41 – 411M → I in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068104
Natural varianti55 – 551H → R in HH5; phenotype consistent with Kallmann syndrome. 1 Publication
VAR_054623
Natural varianti72 – 721Y → C in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068375
Natural varianti86 – 861P → R in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068105
Natural varianti93 – 931T → A.1 Publication
VAR_068376
Natural varianti99 – 991A → P in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068377
Natural varianti103 – 1031S → T.1 Publication
Corresponds to variant rs41272435 [ dbSNP | Ensembl ].
VAR_068106
Natural varianti167 – 1671P → L.1 Publication
VAR_068378
Natural varianti201 – 2011Q → R.1 Publication
VAR_068107
Natural varianti238 – 2381V → L.1 Publication
VAR_068379
Natural varianti238 – 2381V → M in a patient with CHARGES; unknown pathological significance. 1 Publication
Corresponds to variant rs200898742 [ dbSNP | Ensembl ].
VAR_068108
Natural varianti254 – 2541Q → E in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068380
Natural varianti286 – 2861R → G.1 Publication
Corresponds to variant rs61995713 [ dbSNP | Ensembl ].
VAR_068381
Natural varianti340 – 3401M → V.1 Publication
Corresponds to variant rs41305525 [ dbSNP | Ensembl ].
VAR_048731
Natural varianti369 – 3691P → A.1 Publication
VAR_068109
Natural varianti439 – 4391P → S in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068382
Natural varianti466 – 4661S → L.2 Publications
Corresponds to variant rs71640285 [ dbSNP | Ensembl ].
VAR_068110
Natural varianti511 – 5111L → V.1 Publication
VAR_069032
Natural varianti522 – 5221G → V.2 Publications
Corresponds to variant rs142962579 [ dbSNP | Ensembl ].
VAR_068111
Natural varianti524 – 5241H → P.1 Publication
VAR_068383
Natural varianti527 – 5271S → A.1 Publication
VAR_069033
Natural varianti558 – 5581P → A in a patient with CHARGES; unknown pathological significance. 2 Publications
VAR_068112
Natural varianti596 – 5961Q → K.1 Publication
VAR_068384
Natural varianti636 – 6361G → V.1 Publication
VAR_068113
Natural varianti699 – 6991S → G in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068385
Natural varianti699 – 6991S → T in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068114
Natural varianti728 – 7281D → N in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068115
Natural varianti744 – 7441G → S.2 Publications
Corresponds to variant rs141947938 [ dbSNP | Ensembl ].
VAR_068116
Natural varianti812 – 8121K → N.1 Publication
Corresponds to variant rs61978638 [ dbSNP | Ensembl ].
VAR_068386
Natural varianti834 – 8341S → F in HH5; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism. 1 Publication
VAR_054624
Natural varianti840 – 8401W → C in CHARGES. 1 Publication
VAR_068387
Natural varianti871 – 8711E → D in CHARGES. 1 Publication
VAR_068117
Natural varianti894 – 8941T → A in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068118
Natural varianti907 – 9071K → T in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068119
Natural varianti917 – 9171T → M in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068120
Natural varianti938 – 9381R → K in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068121
Natural varianti942 – 9421T → A in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068388
Natural varianti944 – 9441R → H in a patient with CHARGES; unknown pathological significance. 2 Publications
Corresponds to variant rs117506164 [ dbSNP | Ensembl ].
VAR_068122
Natural varianti947 – 9471R → Q in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068123
Natural varianti975 – 9751G → R in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068389
Natural varianti1020 – 10201L → S in CHARGES. 2 Publications
VAR_068124
Natural varianti1028 – 10281I → V in CHARGES. 3 Publications
VAR_021059
Natural varianti1031 – 10311W → G in CHARGES. 1 Publication
VAR_033245
Natural varianti1031 – 10311W → R in CHARGES. 1 Publication
VAR_068390
Natural varianti1081 – 10811I → S in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068391
Natural varianti1082 – 10821T → N in CHARGES. 1 Publication
VAR_068392
Natural varianti1101 – 11011C → R in CHARGES. 1 Publication
VAR_068393
Natural varianti1203 – 12031E → Q in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068125
Natural varianti1208 – 12081V → D in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068126
Natural varianti1214 – 12141Q → R in CHARGES. 2 Publications
VAR_033246
Natural varianti1251 – 12511C → R in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068394
Natural varianti1257 – 12571L → R in CHARGES. 1 Publication
VAR_021060
Natural varianti1292 – 12921L → P in CHARGES. 1 Publication
VAR_068395
Natural varianti1294 – 12941L → P in CHARGES. 2 Publications
VAR_033247
Natural varianti1317 – 13171R → C in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068396
Natural varianti1318 – 13181C → R in CHARGES. 1 Publication
VAR_068397
Natural varianti1322 – 13221L → P in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068127
Natural varianti1345 – 13451R → C in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068128
Natural varianti1345 – 13451R → H in CHARGES. 1 Publication
VAR_068398
Natural varianti1395 – 13951Q → H in CHARGES. 1 Publication
VAR_068129
Natural varianti1416 – 14161T → R in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068130
Natural varianti1457 – 14571K → Q in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068131
Natural varianti1576 – 15761F → C in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068132
Natural varianti1594 – 15941P → S.1 Publication
VAR_068399
Natural varianti1617 – 16171G → D in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068400
Natural varianti1617 – 16171G → S in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068133
Natural varianti1619 – 16191G → V in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068401
Natural varianti1672 – 16721A → V.1 Publication
VAR_068402
Natural varianti1684 – 16841G → S in CHARGES. 3 Publications
VAR_068134
Natural varianti1739 – 17391L → R in CHARGES. 1 Publication
VAR_068135
Natural varianti1745 – 17451L → P Found in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_069034
Natural varianti1791 – 17911D → E in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068136
Natural varianti1797 – 17971G → V in CHARGES. 1 Publication
VAR_068403
Natural varianti1802 – 18021G → D in CHARGES. 1 Publication
VAR_068137
Natural varianti1812 – 18121D → G in CHARGES. 1 Publication
VAR_068404
Natural varianti1812 – 18121D → H in CHARGES. 1 Publication
VAR_068405
Natural varianti1815 – 18151L → P in CHARGES. 2 Publications
VAR_033248
Natural varianti1866 – 18661D → G in a patient with CHARGES; unknown pathological significance. 2 Publications
VAR_068138
Natural varianti1950 – 19501A → T in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068139
Natural varianti1972 – 19721A → G.1 Publication
VAR_068406
Natural varianti2062 – 20621R → W.1 Publication
VAR_068407
Natural varianti2065 – 20651R → H in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068140
Natural varianti2065 – 20651R → S in CHARGES. 1 Publication
VAR_068141
Natural varianti2074 – 20741L → P in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068408
Natural varianti2077 – 20771R → K Found in a patient with cleft lip and palate; unknown pathological significance. 1 Publication
VAR_069035
Natural varianti2084 – 20841S → G in a patient with CHARGES; unknown pathological significance. 1 Publication
Corresponds to variant rs201083157 [ dbSNP | Ensembl ].
VAR_068142
Natural varianti2091 – 20911W → R in CHARGES; no effect on interaction with CHD8. 2 Publications
VAR_068409
Natural varianti2096 – 20961H → R in CHARGES; no effect on interaction with CHD8. 2 Publications
VAR_033249
Natural varianti2097 – 20971D → G in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068410
Natural varianti2102 – 21021V → I Found in a patient with CHARGES; unknown pathological significance; has no effect on interaction with CHD8. 3 Publications
VAR_068411
Natural varianti2103 – 21031G → D in a patient with CHARGES; unknown pathological significance. 1 Publication
VAR_068143
Natural varianti2108 – 21081G → R in CHARGES; has no effect on interaction with CHD8. 3 Publications
VAR_068144
Natural varianti2112 – 21121T → M Found in a patient with cleft lip and palate; unknown pathological significance. 2 Publications
VAR_068412
Natural varianti2116 – 21161I → N in CHARGES. 1 Publication
VAR_068145
Natural varianti2118 – 21181N → D.1 Publication
VAR_068413
Natural varianti2160 – 21601A → T.1 Publication
Corresponds to variant rs61753399 [ dbSNP | Ensembl ].
VAR_068146
Natural varianti2225 – 22251A → T.2 Publications
VAR_068147
Natural varianti2259 – 22591A → T in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068414
Natural varianti2286 – 22861G → A in CHARGES. 1 Publication
VAR_068415
Natural varianti2312 – 23121K → T in patients with CHARGES; unknown pathological significance. 1 Publication
VAR_068416
Natural varianti2319 – 23191R → C Found in patients with CHARGES; unknown pathological significance. 2 Publications
VAR_068148
Natural varianti2319 – 23191R → S in CHARGES. 1 Publication
VAR_033250
Natural varianti2330 – 23301G → A.2 Publications