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P25686

- DNJB2_HUMAN

UniProt

P25686 - DNJB2_HUMAN

Protein

DnaJ homolog subfamily B member 2

Gene

DNAJB2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 3 (11 Sep 2007)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. chaperone binding Source: UniProt
    2. Hsp70 protein binding Source: BHF-UCL
    3. polyubiquitin binding Source: BHF-UCL
    4. proteasome binding Source: BHF-UCL
    5. protein binding Source: BHF-UCL
    6. unfolded protein binding Source: UniProt

    GO - Biological processi

    1. cell death Source: UniProtKB-KW
    2. ER-associated ubiquitin-dependent protein catabolic process Source: BHF-UCL
    3. negative regulation of cell growth Source: UniProtKB
    4. negative regulation of cell proliferation Source: UniProtKB
    5. negative regulation of inclusion body assembly Source: BHF-UCL
    6. negative regulation of protein deubiquitination Source: BHF-UCL
    7. positive regulation of proteasomal ubiquitin-dependent protein catabolic process Source: BHF-UCL
    8. positive regulation of protein ubiquitination Source: BHF-UCL
    9. protein folding Source: ProtInc
    10. protein refolding Source: UniProt
    11. response to unfolded protein Source: ProtInc

    Keywords - Molecular functioni

    Chaperone

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    DnaJ homolog subfamily B member 2
    Alternative name(s):
    DnaJ protein homolog 1
    Heat shock 40 kDa protein 3
    Heat shock protein J1
    Short name:
    HSJ-1
    Gene namesi
    Name:DNAJB2
    Synonyms:HSJ1, HSPF3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:5228. DNAJB2.

    Subcellular locationi

    GO - Cellular componenti

    1. cytosol Source: UniProt
    2. inclusion body Source: BHF-UCL
    3. nucleus Source: UniProt

    Pathology & Biotechi

    Involvement in diseasei

    Distal spinal muscular atrophy, autosomal recessive, 5 (DSMA5) [MIM:614881]: An autosomal recessive neurologic disorder characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes due to impaired function of motor nerves. Sensation and cognition are not impaired.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Neurodegeneration

    Organism-specific databases

    MIMi614881. phenotype.
    Orphaneti314485. Young adult-onset distal hereditary motor neuropathy.
    PharmGKBiPA27415.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 324323DnaJ homolog subfamily B member 2PRO_0000071018Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanineBy similarity

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiP25686.
    PaxDbiP25686.
    PRIDEiP25686.

    PTM databases

    PhosphoSiteiP25686.

    Expressioni

    Tissue specificityi

    Brain (neuronal layers). Weakly, in skeletal muscle and spleen.

    Gene expression databases

    ArrayExpressiP25686.
    BgeeiP25686.
    CleanExiHS_DNAJB2.
    GenevestigatoriP25686.

    Organism-specific databases

    HPAiHPA036268.

    Interactioni

    Protein-protein interaction databases

    BioGridi109533. 18 interactions.
    DIPiDIP-29051N.
    IntActiP25686. 10 interactions.
    MINTiMINT-1192251.
    STRINGi9606.ENSP00000338019.

    Structurei

    Secondary structure

    1
    324
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi4 – 74
    Beta strandi8 – 103
    Helixi16 – 2914
    Turni32 – 343
    Helixi40 – 5718
    Helixi59 – 7012

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2LGWNMR-A1-91[»]
    ProteinModelPortaliP25686.
    SMRiP25686. Positions 1-110.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini2 – 7170JPROSITE-ProRule annotationAdd
    BLAST
    Repeati210 – 22617UIM 1Add
    BLAST
    Repeati250 – 26920UIM 2Add
    BLAST

    Sequence similaritiesi

    Contains 1 J domain.PROSITE-ProRule annotation
    Contains 2 UIM (ubiquitin-interacting motif) repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiCOG0484.
    HOGENOMiHOG000111538.
    HOVERGENiHBG066998.
    InParanoidiP25686.
    KOiK09508.
    OMAiRGPRHSG.
    OrthoDBiEOG7KSX9F.
    PhylomeDBiP25686.
    TreeFamiTF105142.

    Family and domain databases

    Gene3Di1.10.287.110. 1 hit.
    InterProiIPR001623. DnaJ_domain.
    IPR018253. DnaJ_domain_CS.
    IPR003903. Ubiquitin-int_motif.
    [Graphical view]
    PfamiPF00226. DnaJ. 1 hit.
    [Graphical view]
    PRINTSiPR00625. JDOMAIN.
    SMARTiSM00271. DnaJ. 1 hit.
    SM00726. UIM. 2 hits.
    [Graphical view]
    SUPFAMiSSF46565. SSF46565. 1 hit.
    PROSITEiPS00636. DNAJ_1. 1 hit.
    PS50076. DNAJ_2. 1 hit.
    PS50330. UIM. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Note: Experimental confirmation may be lacking for some isoforms.

    Isoform 3 (identifier: P25686-3) [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

    MASYYEILDV PRSASADDIK KAYRRKALQW HPDKNPDNKE FAEKKFKEVA    50
    EAYEVLSDKH KREIYDRYGR EGLTGTGTGP SRAEAGSGGP GFTFTFRSPE 100
    EVFREFFGSG DPFAELFDDL GPFSELQNRG SRHSGPFFTF SSSFPGHSDF 150
    SSSSFSFSPG AGAFRSVSTS TTFVQGRRIT TRRIMENGQE RVEVEEDGQL 200
    KSVTINGVPD DLALGLELSR REQQPSVTSR SGGTQVQQTP ASCPLDSDLS 250
    EDEDLQLAMA YSLSEMEAAG KKPAGGREAQ HRRQGRPKAQ HQDPGLGGTQ 300
    EGARGEATKR SPSPEEKASR CLIL 324

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated

    Length:324
    Mass (Da):35,580
    Last modified:September 11, 2007 - v3
    Checksum:i0154ED3E29F34B4A
    GO
    Isoform 2 (identifier: P25686-2) [UniParc]FASTAAdd to Basket

    Also known as: HSJ1A

    The sequence of this isoform differs from the canonical sequence as follows:
         275-277: GGR → DVF
         278-324: Missing.

    Show »
    Length:277
    Mass (Da):30,569
    Checksum:i1C843287D7856CFB
    GO

    Sequence cautioni

    Isoform 3 : The sequence AAA09035.1 differs from that shown. Reason: Frameshift at position 288.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti214 – 2141L → R in AAA09034. (PubMed:1599432)Curated
    Sequence conflicti214 – 2141L → R in AAA09035. (PubMed:1599432)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti270 – 2701G → R.
    Corresponds to variant rs34127289 [ dbSNP | Ensembl ].
    VAR_048910

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei275 – 2773GGR → DVF in isoform 2. 2 PublicationsVSP_001286
    Alternative sequencei278 – 32447Missing in isoform 2. 2 PublicationsVSP_001287Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    S37375 mRNA. Translation: AAA09034.1.
    S37374 mRNA. Translation: AAA09035.1. Frameshift.
    X63368 Genomic DNA. Translation: CAA44968.2.
    X63368 Genomic DNA. Translation: CAA44969.2.
    BT007088 mRNA. Translation: AAP35751.1.
    AK292761 mRNA. Translation: BAF85450.1.
    BC011609 mRNA. Translation: AAH11609.1.
    BC047056 mRNA. Translation: AAH47056.1.
    CCDSiCCDS2439.1. [P25686-3]
    CCDS46519.1. [P25686-2]
    PIRiS23508.
    RefSeqiNP_001034639.1. NM_001039550.1. [P25686-2]
    NP_006727.2. NM_006736.5. [P25686-3]
    UniGeneiHs.77768.

    Genome annotation databases

    EnsembliENST00000336576; ENSP00000338019; ENSG00000135924. [P25686-3]
    ENST00000392086; ENSP00000375936; ENSG00000135924. [P25686-2]
    GeneIDi3300.
    KEGGihsa:3300.
    UCSCiuc002vkw.1. human. [P25686-2]
    uc002vkx.1. human. [P25686-3]

    Polymorphism databases

    DMDMi158518384.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    S37375 mRNA. Translation: AAA09034.1 .
    S37374 mRNA. Translation: AAA09035.1 . Frameshift.
    X63368 Genomic DNA. Translation: CAA44968.2 .
    X63368 Genomic DNA. Translation: CAA44969.2 .
    BT007088 mRNA. Translation: AAP35751.1 .
    AK292761 mRNA. Translation: BAF85450.1 .
    BC011609 mRNA. Translation: AAH11609.1 .
    BC047056 mRNA. Translation: AAH47056.1 .
    CCDSi CCDS2439.1. [P25686-3 ]
    CCDS46519.1. [P25686-2 ]
    PIRi S23508.
    RefSeqi NP_001034639.1. NM_001039550.1. [P25686-2 ]
    NP_006727.2. NM_006736.5. [P25686-3 ]
    UniGenei Hs.77768.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2LGW NMR - A 1-91 [» ]
    ProteinModelPortali P25686.
    SMRi P25686. Positions 1-110.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109533. 18 interactions.
    DIPi DIP-29051N.
    IntActi P25686. 10 interactions.
    MINTi MINT-1192251.
    STRINGi 9606.ENSP00000338019.

    PTM databases

    PhosphoSitei P25686.

    Polymorphism databases

    DMDMi 158518384.

    Proteomic databases

    MaxQBi P25686.
    PaxDbi P25686.
    PRIDEi P25686.

    Protocols and materials databases

    DNASUi 3300.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000336576 ; ENSP00000338019 ; ENSG00000135924 . [P25686-3 ]
    ENST00000392086 ; ENSP00000375936 ; ENSG00000135924 . [P25686-2 ]
    GeneIDi 3300.
    KEGGi hsa:3300.
    UCSCi uc002vkw.1. human. [P25686-2 ]
    uc002vkx.1. human. [P25686-3 ]

    Organism-specific databases

    CTDi 3300.
    GeneCardsi GC02P220143.
    HGNCi HGNC:5228. DNAJB2.
    HPAi HPA036268.
    MIMi 604139. gene.
    614881. phenotype.
    neXtProti NX_P25686.
    Orphaneti 314485. Young adult-onset distal hereditary motor neuropathy.
    PharmGKBi PA27415.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0484.
    HOGENOMi HOG000111538.
    HOVERGENi HBG066998.
    InParanoidi P25686.
    KOi K09508.
    OMAi RGPRHSG.
    OrthoDBi EOG7KSX9F.
    PhylomeDBi P25686.
    TreeFami TF105142.

    Miscellaneous databases

    ChiTaRSi DNAJB2. human.
    GeneWikii DNAJB2.
    GenomeRNAii 3300.
    NextBioi 13093.
    PROi P25686.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P25686.
    Bgeei P25686.
    CleanExi HS_DNAJB2.
    Genevestigatori P25686.

    Family and domain databases

    Gene3Di 1.10.287.110. 1 hit.
    InterProi IPR001623. DnaJ_domain.
    IPR018253. DnaJ_domain_CS.
    IPR003903. Ubiquitin-int_motif.
    [Graphical view ]
    Pfami PF00226. DnaJ. 1 hit.
    [Graphical view ]
    PRINTSi PR00625. JDOMAIN.
    SMARTi SM00271. DnaJ. 1 hit.
    SM00726. UIM. 2 hits.
    [Graphical view ]
    SUPFAMi SSF46565. SSF46565. 1 hit.
    PROSITEi PS00636. DNAJ_1. 1 hit.
    PS50076. DNAJ_2. 1 hit.
    PS50330. UIM. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Human homologues of the bacterial heat-shock protein DnaJ are preferentially expressed in neurons."
      Cheetham M.E., Brion J.-P., Anderton B.H.
      Biochem. J. 284:469-476(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2).
      Tissue: Brain.
    2. Cheetham M.E.
      Submitted (JUL-1998) to UniProtKB
      Cited for: SEQUENCE REVISION TO 214.
    3. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    4. "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] (ISOFORM 2).
      Tissue: Lung.
    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] (ISOFORMS 2 AND 3).
      Tissue: Colon and Lymph.
    6. Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
    7. Cited for: INVOLVEMENT IN DSMA5.

    Entry informationi

    Entry nameiDNJB2_HUMAN
    AccessioniPrimary (citable) accession number: P25686
    Secondary accession number(s): A8K9P6
    , Q8IUK1, Q8IUK2, Q96F52
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 1, 1992
    Last sequence update: September 11, 2007
    Last modified: October 1, 2014
    This is version 138 of the entry and version 3 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3