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P25686

- DNJB2_HUMAN

UniProt

P25686 - DNJB2_HUMAN

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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

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. 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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiP25686.
CleanExiHS_DNAJB2.
ExpressionAtlasiP25686. baseline and differential.
GenevestigatoriP25686.

Organism-specific databases

HPAiHPA036268.

Interactioni

Protein-protein interaction databases

BioGridi109533. 41 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.
GeneTreeiENSGT00760000118947.
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

        10         20         30         40         50
MASYYEILDV PRSASADDIK KAYRRKALQW HPDKNPDNKE FAEKKFKEVA
60 70 80 90 100
EAYEVLSDKH KREIYDRYGR EGLTGTGTGP SRAEAGSGGP GFTFTFRSPE
110 120 130 140 150
EVFREFFGSG DPFAELFDDL GPFSELQNRG SRHSGPFFTF SSSFPGHSDF
160 170 180 190 200
SSSSFSFSPG AGAFRSVSTS TTFVQGRRIT TRRIMENGQE RVEVEEDGQL
210 220 230 240 250
KSVTINGVPD DLALGLELSR REQQPSVTSR SGGTQVQQTP ASCPLDSDLS
260 270 280 290 300
EDEDLQLAMA YSLSEMEAAG KKPAGGREAQ HRRQGRPKAQ HQDPGLGGTQ
310 320
EGARGEATKR SPSPEEKASR CLIL

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. 41 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.
GeneTreei ENSGT00760000118947.
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

Bgeei P25686.
CleanExi HS_DNAJB2.
ExpressionAtlasi P25686. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 139 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