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Q9H3Z4

- DNJC5_HUMAN

UniProt

Q9H3Z4 - DNJC5_HUMAN

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Protein

DnaJ homolog subfamily C member 5

Gene

DNAJC5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

May have an important role in presynaptic function. May be involved in calcium-dependent neurotransmitter release at nerve endings (By similarity).By similarity

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. exocytosis Source: ParkinsonsUK-UCL
  3. negative regulation of neuron apoptotic process Source: Ensembl
  4. neurotransmitter secretion Source: Reactome
  5. regulated secretory pathway Source: ParkinsonsUK-UCL
  6. synaptic transmission Source: Reactome
  7. synaptic vesicle exocytosis Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Molecular functioni

Chaperone

Enzyme and pathway databases

ReactomeiREACT_23947. GABA synthesis, release, reuptake and degradation.

Names & Taxonomyi

Protein namesi
Recommended name:
DnaJ homolog subfamily C member 5
Alternative name(s):
Cysteine string protein
Short name:
CSP
Gene namesi
Name:DNAJC5
Synonyms:CSP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:16235. DNAJC5.

Subcellular locationi

Membrane By similarity; Lipid-anchor By similarity. Melanosome. Cell membrane
Note: Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

GO - Cellular componenti

  1. clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane Source: Reactome
  2. extracellular vesicular exosome Source: UniProt
  3. lysosomal membrane Source: UniProtKB
  4. membrane Source: UniProtKB
  5. mitochondrion Source: UniProt
  6. plasma membrane Source: UniProtKB
  7. synaptic vesicle Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Ceroid lipofuscinosis, neuronal, 4B (CLN4B) [MIM:162350]: An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4B has no visual involvement and is characterized by seizures and other neurologic symptoms.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti115 – 1151L → R in CLN4B; results in near absence of palmitoylated monomeric forms of the protein and formation of high molecular mass aggregates with diffuse intracellular localization. 4 Publications
VAR_066555
Natural varianti116 – 1161Missing in CLN4B; results in near absence of palmitoylated monomeric forms of the protein and formation of high molecular mass aggregates with diffuse intracellular localization. 3 Publications
VAR_066556

Keywords - Diseasei

Disease mutation, Neurodegeneration, Neuronal ceroid lipofuscinosis

Organism-specific databases

MIMi162350. phenotype.
Orphaneti228343. CLN4B disease.
PharmGKBiPA27422.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 198198DnaJ homolog subfamily C member 5PRO_0000071052Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei8 – 81Phosphoserine2 Publications
Modified residuei10 – 101Phosphoserine4 Publications
Modified residuei15 – 151Phosphoserine1 Publication
Modified residuei56 – 561N6-acetyllysine1 Publication

Post-translational modificationi

Fatty acylated. Heavily palmitoylated in the cysteine string motif (By similarity).By similarity

Keywords - PTMi

Acetylation, Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

MaxQBiQ9H3Z4.
PaxDbiQ9H3Z4.
PRIDEiQ9H3Z4.

PTM databases

PhosphoSiteiQ9H3Z4.

Expressioni

Tissue specificityi

Expressed in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain and heart.1 Publication

Gene expression databases

BgeeiQ9H3Z4.
CleanExiHS_DNAJC5.
ExpressionAtlasiQ9H3Z4. baseline and differential.
GenevestigatoriQ9H3Z4.

Organism-specific databases

HPAiHPA012737.
HPA013154.

Interactioni

Subunit structurei

Homodimer (Probable). Interacts with the chaperone complex consisting of HSC70 and SGTA (By similarity).By similarityCurated

Protein-protein interaction databases

BioGridi123242. 9 interactions.
IntActiQ9H3Z4. 1 interaction.
MINTiMINT-5000726.
STRINGi9606.ENSP00000354111.

Structurei

3D structure databases

ProteinModelPortaliQ9H3Z4.
SMRiQ9H3Z4. Positions 5-100.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini13 – 8270JPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi118 – 12811Poly-CysAdd
BLAST

Sequence similaritiesi

Contains 1 J domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiCOG0484.
GeneTreeiENSGT00760000118947.
HOGENOMiHOG000231969.
HOVERGENiHBG005414.
InParanoidiQ9H3Z4.
KOiK09525.
OMAiCCCGRCK.
OrthoDBiEOG7WHHBD.
PhylomeDBiQ9H3Z4.
TreeFamiTF105164.

Family and domain databases

Gene3Di1.10.287.110. 1 hit.
InterProiIPR001623. DnaJ_domain.
IPR018253. DnaJ_domain_CS.
[Graphical view]
PfamiPF00226. DnaJ. 1 hit.
[Graphical view]
PRINTSiPR00625. JDOMAIN.
SMARTiSM00271. DnaJ. 1 hit.
[Graphical view]
SUPFAMiSSF46565. SSF46565. 1 hit.
PROSITEiPS00636. DNAJ_1. 1 hit.
PS50076. DNAJ_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9H3Z4-1) [UniParc]FASTAAdd to Basket

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

        10         20         30         40         50
MADQRQRSLS TSGESLYHVL GLDKNATSDD IKKSYRKLAL KYHPDKNPDN
60 70 80 90 100
PEAADKFKEI NNAHAILTDA TKRNIYDKYG SLGLYVAEQF GEENVNTYFV
110 120 130 140 150
LSSWWAKALF VFCGLLTCCY CCCCLCCCFN CCCGKCKPKA PEGEETEFYV
160 170 180 190
SPEDLEAQLQ SDEREATDTP IVIQPASATE TTQLTADSHP SYHTDGFN
Length:198
Mass (Da):22,149
Last modified:March 1, 2001 - v1
Checksum:iA3F89270EBAD8A25
GO
Isoform 2 (identifier: Q9H3Z4-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     165-198: EATDTPIVIQPASATETTQLTADSHPSYHTDGFN → GGH

Note: No experimental confirmation available.

Show »
Length:167
Mass (Da):18,801
Checksum:i568E1ACE72012AC0
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti115 – 1151L → R in CLN4B; results in near absence of palmitoylated monomeric forms of the protein and formation of high molecular mass aggregates with diffuse intracellular localization. 4 Publications
VAR_066555
Natural varianti116 – 1161Missing in CLN4B; results in near absence of palmitoylated monomeric forms of the protein and formation of high molecular mass aggregates with diffuse intracellular localization. 3 Publications
VAR_066556

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei165 – 19834EATDT…TDGFN → GGH in isoform 2. 1 PublicationVSP_001292Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL118506 Genomic DNA. Translation: CAC15495.1.
CH471077 Genomic DNA. Translation: EAW75191.1.
CH471077 Genomic DNA. Translation: EAW75192.1.
BC053642 mRNA. Translation: AAH53642.1.
AK024508 mRNA. Translation: BAB15798.1.
AK128776 mRNA. Translation: BAG54730.1.
AK289585 mRNA. Translation: BAF82274.1.
CCDSiCCDS13546.1. [Q9H3Z4-1]
PIRiS70515.
RefSeqiNP_079495.1. NM_025219.2. [Q9H3Z4-1]
UniGeneiHs.164419.

Genome annotation databases

EnsembliENST00000360864; ENSP00000354111; ENSG00000101152. [Q9H3Z4-1]
ENST00000470551; ENSP00000434744; ENSG00000101152. [Q9H3Z4-2]
GeneIDi80331.
KEGGihsa:80331.
UCSCiuc002yhf.3. human. [Q9H3Z4-1]

Polymorphism databases

DMDMi15213953.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL118506 Genomic DNA. Translation: CAC15495.1 .
CH471077 Genomic DNA. Translation: EAW75191.1 .
CH471077 Genomic DNA. Translation: EAW75192.1 .
BC053642 mRNA. Translation: AAH53642.1 .
AK024508 mRNA. Translation: BAB15798.1 .
AK128776 mRNA. Translation: BAG54730.1 .
AK289585 mRNA. Translation: BAF82274.1 .
CCDSi CCDS13546.1. [Q9H3Z4-1 ]
PIRi S70515.
RefSeqi NP_079495.1. NM_025219.2. [Q9H3Z4-1 ]
UniGenei Hs.164419.

3D structure databases

ProteinModelPortali Q9H3Z4.
SMRi Q9H3Z4. Positions 5-100.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123242. 9 interactions.
IntActi Q9H3Z4. 1 interaction.
MINTi MINT-5000726.
STRINGi 9606.ENSP00000354111.

PTM databases

PhosphoSitei Q9H3Z4.

Polymorphism databases

DMDMi 15213953.

Proteomic databases

MaxQBi Q9H3Z4.
PaxDbi Q9H3Z4.
PRIDEi Q9H3Z4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000360864 ; ENSP00000354111 ; ENSG00000101152 . [Q9H3Z4-1 ]
ENST00000470551 ; ENSP00000434744 ; ENSG00000101152 . [Q9H3Z4-2 ]
GeneIDi 80331.
KEGGi hsa:80331.
UCSCi uc002yhf.3. human. [Q9H3Z4-1 ]

Organism-specific databases

CTDi 80331.
GeneCardsi GC20P062526.
GeneReviewsi DNAJC5.
HGNCi HGNC:16235. DNAJC5.
HPAi HPA012737.
HPA013154.
MIMi 162350. phenotype.
611203. gene.
neXtProti NX_Q9H3Z4.
Orphaneti 228343. CLN4B disease.
PharmGKBi PA27422.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0484.
GeneTreei ENSGT00760000118947.
HOGENOMi HOG000231969.
HOVERGENi HBG005414.
InParanoidi Q9H3Z4.
KOi K09525.
OMAi CCCGRCK.
OrthoDBi EOG7WHHBD.
PhylomeDBi Q9H3Z4.
TreeFami TF105164.

Enzyme and pathway databases

Reactomei REACT_23947. GABA synthesis, release, reuptake and degradation.

Miscellaneous databases

ChiTaRSi DNAJC5. human.
GeneWikii DNAJC5.
GenomeRNAii 80331.
NextBioi 70876.
PROi Q9H3Z4.
SOURCEi Search...

Gene expression databases

Bgeei Q9H3Z4.
CleanExi HS_DNAJC5.
ExpressionAtlasi Q9H3Z4. baseline and differential.
Genevestigatori Q9H3Z4.

Family and domain databases

Gene3Di 1.10.287.110. 1 hit.
InterProi IPR001623. DnaJ_domain.
IPR018253. DnaJ_domain_CS.
[Graphical view ]
Pfami PF00226. DnaJ. 1 hit.
[Graphical view ]
PRINTSi PR00625. JDOMAIN.
SMARTi SM00271. DnaJ. 1 hit.
[Graphical view ]
SUPFAMi SSF46565. SSF46565. 1 hit.
PROSITEi PS00636. DNAJ_1. 1 hit.
PS50076. DNAJ_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Widespread expression of human cysteine string proteins."
    Coppola T., Gundersen C.
    FEBS Lett. 391:269-272(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE (ISOFORMS 1 AND 2), TISSUE SPECIFICITY.
  2. "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] (ISOFORMS 1 AND 2).
    Tissue: Cerebellum and Hippocampus.
  3. "The DNA sequence and comparative analysis of human chromosome 20."
    Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
    , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
    Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  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] (ISOFORM 1).
    Tissue: Blood.
  6. "Characterization of long cDNA clones from human adult spleen."
    Hattori A., Okumura K., Nagase T., Kikuno R., Hirosawa M., Ohara O.
    DNA Res. 7:357-366(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 76-198.
    Tissue: Spleen.
  7. "Identification and characterization of phosphorylated proteins in the human pituitary."
    Giorgianni F., Beranova-Giorgianni S., Desiderio D.M.
    Proteomics 4:587-598(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-10.
    Tissue: Pituitary.
  8. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    Tissue: Melanoma.
  10. "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra."
    Yu L.R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D.
    J. Proteome Res. 6:4150-4162(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Platelet.
  12. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-10 AND SER-15, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  14. "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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  15. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-56, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  16. "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-8 AND SER-10, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  17. "Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis."
    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., Kmoch S.
    Am. J. Hum. Genet. 89:241-252(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, VARIANTS CLN4B ARG-115 AND LEU-116 DEL, CHARACTERIZATION OF VARIANTS CLN4B ARG-115 AND LEU-116 DEL.
  18. "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-8 AND SER-10, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  19. "Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis."
    Benitez B.A., Alvarado D., Cai Y., Mayo K., Chakraverty S., Norton J., Morris J.C., Sands M.S., Goate A., Cruchaga C.
    PLoS ONE 6:E26741-E26741(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CLN4B ARG-115.
  20. "Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis."
    Greaves J., Lemonidis K., Gorleku O.A., Cruchaga C., Grefen C., Chamberlain L.H.
    J. Biol. Chem. 287:37330-37339(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS CLN4B ARG-115 AND LEU-116 DEL.
  21. "Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families."
    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., Zuchner S.
    PLoS ONE 7:E29729-E29729(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CLN4B ARG-115 AND LEU-116 DEL.
  22. Cited for: VARIANTS CLN4B ARG-115 AND LEU-116 DEL.

Entry informationi

Entry nameiDNJC5_HUMAN
AccessioniPrimary (citable) accession number: Q9H3Z4
Secondary accession number(s): A8K0M0
, B3KY68, E1P5G8, Q9H3Z5, Q9H7H2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 14, 2001
Last sequence update: March 1, 2001
Last modified: October 29, 2014
This is version 126 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

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