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Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 (DNAJC5), mRNA.

RefSeq Accession Definition Services Price Order
NM_025219 Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 (DNAJC5), mRNA. ORF Sequence $173.13
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RefSeq Version NM_025219.2, 313103004
Length 5307 bp
Structure linear
Update Date 14-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 (DNAJC5), mRNA.
Product dnaJ homolog subfamily C member 5

Summary: This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. The encoded protein plays a role in membrane trafficking and protein folding, and has been shown to have anti-neurodegenerative properties. The encoded protein is known to play a role in cystic fibrosis and Huntington's disease. A pseudogene of this gene is located on the short arm of chromosome 8. [provided by RefSeq, Nov 2010].

RefSeq NP_079495.1
CDS 234..830
Misc Feature(1)225..227
Misc Feature(2)225..227
Misc Feature(3)255..257
Misc Feature(4)255..257
Misc Feature(5)261..263
Misc Feature(6)261..263
Misc Feature(7)261..263
Misc Feature(8)276..278
Misc Feature(9)282..440
Misc Feature(10)order(360..368,393..395,402..407,414..419)
Misc Feature(11)399..401
Exon (1)1..222
Gene Synonym:CLN4; CLN4B; CSP; DNAJC5A; NCL
Exon (2)223..340
Gene Synonym:CLN4; CLN4B; CSP; DNAJC5A; NCL
Exon (3)341..554
Gene Synonym:CLN4; CLN4B; CSP; DNAJC5A; NCL
Exon (4)555..726
Gene Synonym:CLN4; CLN4B; CSP; DNAJC5A; NCL
Exon (5)727..5293
Gene Synonym:CLN4; CLN4B; CSP; DNAJC5A; NCL
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Position Chain Variation Link
250+a, gdbSNP:200104219
251+a, gdbSNP:148585496
278+a, gdbSNP:144141585
308+c, tdbSNP:189308547
350+c, gdbSNP:147295643
365+c, tdbSNP:140948457
377+c, tdbSNP:113987077
386+a, gdbSNP:151265913
393+a, gdbSNP:202015608
421+c, tdbSNP:139312819
461+c, tdbSNP:201495666
470+c, tdbSNP:149971662
515+c, tdbSNP:113207069
557+c, gdbSNP:141103374
595+a, gdbSNP:200240375
614+c, tdbSNP:199712884
652+c, tdbSNP:144915847
681+g, tdbSNP:146719477
689+c, tdbSNP:140326040
719+c, tdbSNP:145468246
760+c, tdbSNP:199540600
988+a, tdbSNP:41278210
1025+a, gdbSNP:180676568
1103..1104+, cdbSNP:35725001
1152+a, gdbSNP:143646564
1186+a, gdbSNP:111986990
1203+a, gdbSNP:188304560
1298+c, gdbSNP:181187018
1314+a, cdbSNP:148120785
1383+a, gdbSNP:141876407
1521+g, tdbSNP:185583381
1538+a, gdbSNP:190430622
1557+a, cdbSNP:75130625
1558+a, gdbSNP:150670642
1580+g, tdbSNP:140106848
1591+c, tdbSNP:182038156
1597+c, tdbSNP:200797893
1647+c, tdbSNP:114525694
1683+c, gdbSNP:6011230
1697+a, gdbSNP:142246799
1725+c, gdbSNP:1064345
1739+g, tdbSNP:114038171
1762+a, gdbSNP:3764726
1842+a, gdbSNP:111530162
1882+c, tdbSNP:41278212
1936+g, tdbSNP:11554629
2027+a, gdbSNP:187083695
2050+a, gdbSNP:73136582
2065+c, tdbSNP:149675982
2133+c, tdbSNP:41278214
2135+g, tdbSNP:41278216
2172+a, gdbSNP:41278218
2194+c, tdbSNP:61735744
2263+a, gdbSNP:41278220
2269+c, tdbSNP:192310826
2272+a, gdbSNP:61744085
2304+a, gdbSNP:145450467
2356+a, cdbSNP:182388077
2386+a, gdbSNP:58526294
2426+a, gdbSNP:61740713
2473+c, tdbSNP:142546412
2478+c, tdbSNP:41278222
2479+a, gdbSNP:186759404
2502+c, tdbSNP:190043990
2650+a, cdbSNP:182604967
2716+g, tdbSNP:11554632
2757+a, gdbSNP:187307345
2761+c, tdbSNP:13048
2785+a, gdbSNP:192839202
2869+c, tdbSNP:79245733
3001+a, gdbSNP:185288496
3038+c, tdbSNP:11554631
3048+a, gdbSNP:142121195
3172+g, tdbSNP:7360045
3209+a, gdbSNP:6062590
3393+a, cdbSNP:188604040
3399+a, cdbSNP:11224
3431+c, tdbSNP:112103063
3447+a, gdbSNP:6122217
3449..3450+, adbSNP:35892428
3531+a, gdbSNP:3206771
3541+a, gdbSNP:76291580
3553+a, gdbSNP:76769576
3555+a, gdbSNP:11554628
3569+a, gdbSNP:6122218
3591..3596+, tgctttdbSNP:111755454
3620+c, tdbSNP:55665472
3708+a, gdbSNP:749724
3729+a, gdbSNP:62218071
3742+a, gdbSNP:749723
3842+c, tdbSNP:193241753
4014+a, gdbSNP:185738914
4034+c, tdbSNP:140377993
4035+a, gdbSNP:188065663
4243+a, gdbSNP:150408300
4262+a, gdbSNP:1051821
4393+c, tdbSNP:138122310
4459+a, gdbSNP:73136585
4500+a, gdbSNP:77107548
4669+a, gdbSNP:145028189
4825+a, gdbSNP:115323539
4836+c, tdbSNP:138866062
4837+c, gdbSNP:77777268
4900+c, gdbSNP:3810500
4947+c, tdbSNP:11554630
4959+c, gdbSNP:191412647
4961+c, tdbSNP:146360147
4976+a, gdbSNP:1051865
5130+c, tdbSNP:41278224
5206+c, tdbSNP:183854692
5215+a, tdbSNP:77335831
5285+c, tdbSNP:74554553
Gene SymbolDNAJC5
Gene SynonymCLN4; CLN4B; CSP; DNAJC5A; NCL
Locus Map20q13.33
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_025219 Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 (DNAJC5), mRNA. Full Length $2388.15
ORF Sequence $173.13
Title Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis .
Author Greaves,J., Lemonidis,K., Gorleku,O.A., Cruchaga,C., Grefen,C. and Chamberlain,L.H.
Journal J. Biol. Chem. 287 (44), 37330-37339 (2012)
Title Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families .
Author Velinov,M., Dolzhanskaya,N., Gonzalez,M., Powell,E., Konidari,I., Hulme,W., Staropoli,J.F., Xin,W., Wen,G.Y., Barone,R., Coppel,S.H., Sims,K., Brown,W.T. and Zuchner,S.
Journal PLoS ONE 7 (1), E29729 (2012)
Title Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis .
Author Noskova,L., Stranecky,V., Hartmannova,H., Pristoupilova,A., Baresova,V., Ivanek,R., Hulkova,H., Jahnova,H., van der Zee,J., Staropoli,J.F., Sims,K.B., Tyynela,J., Van Broeckhoven,C., Nijssen,P.C., Mole,S.E., Elleder,M. and Kmoch,S.
Journal Am. J. Hum. Genet. 89 (2), 241-252 (2011)
Title Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis .
Author Benitez,B.A., Alvarado,D., Cai,Y., Mayo,K., Chakraverty,S., Norton,J., Morris,J.C., Sands,M.S., Goate,A. and Cruchaga,C.
Journal PLoS ONE 6 (11), E26741 (2011)
Title CSPalpha: the neuroprotective J protein .
Author Johnson,J.N., Ahrendt,E. and Braun,J.E.
Journal Biochem. Cell Biol. 88 (2), 157-165 (2010)
Title Cysteine string protein promotes proteasomal degradation of the cystic fibrosis transmembrane conductance regulator (CFTR) by increasing its interaction with the C terminus of Hsp70-interacting protein and promoting CFTR ubiquitylation .
Author Schmidt,B.Z., Watts,R.J., Aridor,M. and Frizzell,R.A.
Journal J. Biol. Chem. 284 (7), 4168-4178 (2009)
Title Mutational analysis of cysteine-string protein function in insulin exocytosis .
Author Zhang,H., Kelley,W.L., Chamberlain,L.H., Burgoyne,R.D. and Lang,J.
Journal J. Cell. Sci. 112 (PT 9), 1345-1351 (1999)
Title Widespread expression of human cysteine string proteins .
Author Coppola,T. and Gundersen,C.
Journal FEBS Lett. 391 (3), 269-272 (1996)
Title Adult neuronal ceroid-lipofuscinosis .
Author Goebel,H.H. and Braak,H.
Journal Clin. Neuropathol. 8 (3), 109-119 (1989)
Title Kufs' disease: a critical reappraisal .
Author Berkovic,S.F., Carpenter,S., Andermann,F., Andermann,E. and Wolfe,L.S.
Journal Brain 111 (PT 1), 27-62 (1988)

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