Q8TDI0 (CHD5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Chromodomain-helicase-DNA-binding protein 5
Short name=CHD-5
EC=3.6.4.12

Alternative name(s):
ATP-dependent helicase CHD5

Gene names

Name:	CHD5
Synonyms:	KIAA0444

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	1954 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	May play a role in the development of the nervous system and the pathogenesis of neural tumors. Ref.1
Catalytic activity	ATP + H2O = ADP + phosphate.
Subcellular location	Nucleus By similarity UniProtKB Q14839.
Tissue specificity	Preferentially expressed in total brain, fetal brain, and cerebellum. It is also moderately expressed in the adrenal gland. Ref.1
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. Contains 2 PHD-type zinc fingers.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Domain	Repeat Zinc-finger
Ligand	ATP-binding DNA-binding Metal-binding Nucleotide-binding Zinc
Molecular function	Chromatin regulator Helicase Hydrolase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	chromatin modification Inferred from electronic annotation. Source: UniProtKB-KW regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW ATP-dependent helicase activity Inferred from electronic annotation. Source: InterPro DNA binding Inferred from electronic annotation. Source: UniProtKB-KW zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1954	1954	Chromodomain-helicase-DNA-binding protein 5		PRO_0000080230
Regions
	Domain	497 – 554	58	Chromo 1
	Domain	592 – 653	62	Chromo 2
	Domain	712 – 896	185	Helicase ATP-binding
	Domain	1028 – 1193	166	Helicase C-terminal
	Zinc finger	343 – 390	48	PHD-type 1
	Zinc finger	416 – 463	48	PHD-type 2
	Nucleotide binding	725 – 732	8	ATP Potential UniProtKB Q14839
	Motif	847 – 850	4	DEAH box
	Compositional bias	49 – 116	68	Lys-rich
	Compositional bias	241 – 287	47	Lys-rich
	Compositional bias	445 – 507	63	Pro-rich
Natural variations
	Natural variant	45	1	V → M in a breast cancer sample; somatic mutation. Ref.5		VAR_035475
	Natural variant	119	1	D → N in a breast cancer sample; somatic mutation. Ref.5		VAR_035476
	Natural variant	667	1	R → G in a breast cancer sample; somatic mutation. Ref.5		VAR_035477
	Natural variant	1253	1	S → I. Corresponds to variant rs6657997 [ dbSNP | Ensembl ].		VAR_048729
	Natural variant	1539	1	S → P. Ref.3 Ref.4 Corresponds to variant rs2843493 [ dbSNP | Ensembl ].		VAR_048730

Sequences

	Sequence		Length	Mass (Da)
	Q8TDI0 [UniParc]. Last modified June 1, 2002. Version 1. Checksum: E333062B5B55E71F	FASTA	1,954	223,050
	10 20 30 40 50 60 MRGPVGTEEE LPRLFAEEME NEDEMSEEED GGLEAFDDFF PVEPVSLPKK KKPKKLKENK 70 80 90 100 110 120 CKGKRKKKEG SNDELSENEE DLEEKSESEG SDYSPNKKKK KKLKDKKEKK AKRKKKDEDE 130 140 150 160 170 180 DDNDDGCLKE PKSSGQLMAE WGLDDVDYLF SEEDYHTLTN YKAFSQFLRP LIAKKNPKIP 190 200 210 220 230 240 MSKMMTVLGA KWREFSANNP FKGSSAAAAA AAVAAAVETV TISPPLAVSP PQVPQPVPIR 250 260 270 280 290 300 KAKTKEGKGP GVRKKIKGSK DGKKKGKGKK TAGLKFRFGG ISNKRKKGSS SEEDEREESD 310 320 330 340 350 360 FDSASIHSAS VRSECSAALG KKSKRRRKKK RIDDGDGYET DHQDYCEVCQ QGGEIILCDT 370 380 390 400 410 420 CPRAYHLVCL DPELEKAPEG KWSCPHCEKE GIQWEPKDDD DEEEEGGCEE EEDDHMEFCR 430 440 450 460 470 480 VCKDGGELLC CDACPSSYHL HCLNPPLPEI PNGEWLCPRC TCPPLKGKVQ RILHWRWTEP 490 500 510 520 530 540 PAPFMVGLPG PDVEPSLPPP KPLEGIPERE FFVKWAGLSY WHCSWVKELQ LELYHTVMYR 550 560 570 580 590 600 NYQRKNDMDE PPPFDYGSGD EDGKSEKRKN KDPLYAKMEE RFYRYGIKPE WMMIHRILNH 610 620 630 640 650 660 SFDKKGDVHY LIKWKDLPYD QCTWEIDDID IPYYDNLKQA YWGHRELMLG EDTRLPKRLL 670 680 690 700 710 720 KKGKKLRDDK QEKPPDTPIV DPTVKFDKQP WYIDSTGGTL HPYQLEGLNW LRFSWAQGTD 730 740 750 760 770 780 TILADEMGLG KTVQTIVFLY SLYKEGHSKG PYLVSAPLST IINWEREFEM WAPDFYVVTY 790 800 810 820 830 840 TGDKESRSVI RENEFSFEDN AIRSGKKVFR MKKEVQIKFH VLLTSYELIT IDQAILGSIE 850 860 870 880 890 900 WACLVVDEAH RLKNNQSKFF RVLNSYKIDY KLLLTGTPLQ NNLEELFHLL NFLTPERFNN 910 920 930 940 950 960 LEGFLEEFAD ISKEDQIKKL HDLLGPHMLR RLKADVFKNM PAKTELIVRV ELSQMQKKYY 970 980 990 1000 1010 1020 KFILTRNFEA LNSKGGGNQV SLLNIMMDLK KCCNHPYLFP VAAVEAPVLP NGSYDGSSLV 1030 1040 1050 1060 1070 1080 KSSGKLMLLQ KMLKKLRDEG HRVLIFSQMT KMLDLLEDFL EYEGYKYERI DGGITGGLRQ 1090 1100 1110 1120 1130 1140 EAIDRFNAPG AQQFCFLLST RAGGLGINLA TADTVIIYDS DWNPHNDIQA FSRAHRIGQN 1150 1160 1170 1180 1190 1200 KKVMIYRFVT RASVEERITQ VAKRKMMLTH LVVRPGLGSK SGSMTKQELD DILKFGTEEL 1210 1220 1230 1240 1250 1260 FKDDVEGMMS QGQRPVTPIP DVQSSKGGNL AASAKKKHGS TPPGDNKDVE DSSVIHYDDA 1270 1280 1290 1300 1310 1320 AISKLLDRNQ DATDDTELQN MNEYLSSFKV AQYVVREEDG VEEVEREIIK QEENVDPDYW 1330 1340 1350 1360 1370 1380 EKLLRHHYEQ QQEDLARNLG KGKRIRKQVN YNDASQEDQE WQDELSDNQS EYSIGSEDED 1390 1400 1410 1420 1430 1440 EDFEERPEGQ SGRRQSRRQL KSDRDKPLPP LLARVGGNIE VLGFNARQRK AFLNAIMRWG 1450 1460 1470 1480 1490 1500 MPPQDAFNSH WLVRDLRGKS EKEFRAYVSL FMRHLCEPGA DGAETFADGV PREGLSRQHV 1510 1520 1530 1540 1550 1560 LTRIGVMSLV RKKVQEFEHV NGKYSTPDLI PEGPEGKKSG EVISSDPNTP VPASPAHLLP 1570 1580 1590 1600 1610 1620 APLGLPDKME AQLGYMDEKD PGAQKPRQPL EVQALPAALD RVESEDKHES PASKERAREE 1630 1640 1650 1660 1670 1680 RPEETEKAPP SPEQLPREEV LPEKEKILDK LELSLIHSRG DSSELRPDDT KAEEKEPIET 1690 1700 1710 1720 1730 1740 QQNGDKEEDD EGKKEDKKGK FKFMFNIADG GFTELHTLWQ NEERAAVSSG KIYDIWHRRH 1750 1760 1770 1780 1790 1800 DYWLLAGIVT HGYARWQDIQ NDPRYMILNE PFKSEVHKGN YLEMKNKFLA RRFKLLEQAL 1810 1820 1830 1840 1850 1860 VIEEQLRRAA YLNMTQDPNH PAMALNARLA EVECLAESHQ HLSKESLAGN KPANAVLHKV 1870 1880 1890 1900 1910 1920 LNQLEELLSD MKADVTRLPS MLSRIPPVAA RLQMSERSIL SRLTNRAGDP TIQQGAFGSS 1930 1940 1950 QMYSNNFGPN FRGPGPGGIV NYNQMPLGPY VTDI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"CHD5, a new member of the chromodomain gene family, is preferentially expressed in the nervous system." Thompson P.M., Gotoh T., Kok M., White P.S., Brodeur G.M. Oncogene 22:1002-1011(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
[2]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 567-1954, VARIANT PRO-1539. Tissue: Testis.
[4]	"Characterization of cDNA clones in size-fractionated cDNA libraries from human brain." Seki N., Ohira M., Nagase T., Ishikawa K., Miyajima N., Nakajima D., Nomura N., Ohara O. DNA Res. 4:345-349(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 977-1954, VARIANT PRO-1539. Tissue: Brain.
[5]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] MET-45; ASN-119 AND GLY-667.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF425231 mRNA. Translation: AAL98962.1. AL031847, AL035406 Genomic DNA. Translation: CAI19450.1. AL035406, AL031847 Genomic DNA. Translation: CAI19891.1. AL117491 mRNA. Translation: CAB55959.1. AB007913 mRNA. Translation: BAA32289.1.
IPI	IPI00152535.
PIR	T17269.
RefSeq	NP_056372.1. NM_015557.2.
UniGene	Hs.522898.
3D structure databases
ProteinModelPortal	Q8TDI0.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8TDI0. 1 interaction.
STRING	9606.ENSP00000262450.
PTM databases
PhosphoSite	Q8TDI0.
Polymorphism databases
DMDM	51701343.
Proteomic databases
PaxDb	Q8TDI0.
PRIDE	Q8TDI0.
Protocols and materials databases
DNASU	26038.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000262450; ENSP00000262450; ENSG00000116254.
GeneID	26038.
KEGG	hsa:26038.
UCSC	uc001amb.2. human.
Organism-specific databases
CTD	26038.
GeneCards	GC01M006096.
HGNC	HGNC:16816. CHD5.
HPA	HPA015809.
MIM	610771. gene.
neXtProt	NX_Q8TDI0.
PharmGKB	PA134969178.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0553.
HOGENOM	HOG000231124.
HOVERGEN	HBG005326.
InParanoid	Q8TDI0.
KO	K14435.
OMA	KRIDDGD.
OrthoDB	EOG4WH8JX.
PhylomeDB	Q8TDI0.
Gene expression databases
ArrayExpress	Q8TDI0.
Bgee	Q8TDI0.
CleanEx	HS_CHD5.
Genevestigator	Q8TDI0.
GermOnline	ENSG00000116254. Homo sapiens.
Family and domain databases
Gene3D	3.30.40.10. 2 hits.
InterPro	IPR012957. CHD_C2. IPR012958. CHD_N. IPR023780. Chromo_domain. IPR000953. Chromo_domain/shadow. IPR016197. Chromodomain-like. IPR002464. DNA/RNA_helicase_DEAH_CS. IPR009462. DUF1086. IPR009463. DUF1087. IPR014001. Helicase_ATP-bd. IPR001650. Helicase_C. IPR000330. SNF2_N. IPR019786. Zinc_finger_PHD-type_CS. IPR011011. Znf_FYVE_PHD. IPR001965. Znf_PHD. IPR019787. Znf_PHD-finger. IPR001841. Znf_RING. IPR013083. Znf_RING/FYVE/PHD. [Graphical view]
Pfam	PF08074. CHDCT2. 1 hit. PF08073. CHDNT. 1 hit. PF00385. Chromo. 2 hits. PF06461. DUF1086. 1 hit. PF06465. DUF1087. 1 hit. PF00271. Helicase_C. 1 hit. PF00628. PHD. 2 hits. PF00176. SNF2_N. 1 hit. [Graphical view]
SMART	SM00298. CHROMO. 2 hits. SM00487. DEXDc. 1 hit. SM00490. HELICc. 1 hit. SM00249. PHD. 2 hits. SM00184. RING. 2 hits. [Graphical view]
SUPFAM	SSF54160. Chromodomain-like. 2 hits. SSF57903. FYVE_PHD_ZnF. 1 hit.
PROSITE	PS00598. CHROMO_1. False negative. PS50013. CHROMO_2. 2 hits. PS00690. DEAH_ATP_HELICASE. 1 hit. PS51192. HELICASE_ATP_BIND_1. 1 hit. PS51194. HELICASE_CTER. 1 hit. PS01359. ZF_PHD_1. 2 hits. PS50016. ZF_PHD_2. 2 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	CHD5. human.
GenomeRNAi	26038.
NextBio	47863.
SOURCE	Search...

Entry information

Entry name

CHD5_HUMAN

Accession

Primary (citable) accession number: Q8TDI0
Secondary accession number(s): O75032 , Q5TG89, Q7LGH2, Q9UFR9

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 31, 2004
Last sequence update:	June 1, 2002
Last modified:	May 1, 2013
This is version 105 of the entry and version 1 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.