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Q9H3Z4

- DNJC5_HUMAN

UniProt

Q9H3Z4 - DNJC5_HUMAN

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
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    • History
      Entry version 125 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    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. negative regulation of neuron apoptotic process Source: Ensembl
    3. neurotransmitter secretion Source: Reactome
    4. synaptic transmission Source: Reactome

    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. melanosome Source: UniProtKB-SubCell
    5. membrane Source: UniProtKB
    6. mitochondrion Source: UniProt
    7. plasma membrane Source: UniProtKB
    8. synaptic vesicle Source: Ensembl

    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

    ArrayExpressiQ9H3Z4.
    BgeeiQ9H3Z4.
    CleanExiHS_DNAJC5.
    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. 8 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.
    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

    MADQRQRSLS TSGESLYHVL GLDKNATSDD IKKSYRKLAL KYHPDKNPDN    50
    PEAADKFKEI NNAHAILTDA TKRNIYDKYG SLGLYVAEQF GEENVNTYFV 100
    LSSWWAKALF VFCGLLTCCY CCCCLCCCFN CCCGKCKPKA PEGEETEFYV 150
    SPEDLEAQLQ SDEREATDTP IVIQPASATE TTQLTADSHP SYHTDGFN 198
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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. 8 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.
    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

    ArrayExpressi Q9H3Z4.
    Bgeei Q9H3Z4.
    CleanExi HS_DNAJC5.
    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

    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 1, 2014
    This is version 125 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

    Dasty 3