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    DNAJB12 DnaJ (Hsp40) homolog, subfamily B, member 12 [ Homo sapiens (human) ]

    Gene ID: 54788, updated on 5-May-2013
    Official Symbol
    DNAJB12provided by HGNC
    Official Full Name
    DnaJ (Hsp40) homolog, subfamily B, member 12provided by HGNC
    Primary source
    HGNC:14891
    See related
    Ensembl:ENSG00000148719; HPRD:07086; MIM:608376; Vega:OTTHUMG00000018436
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DJ10
    Summary
    DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]
    Location :
    10q22.1
    Sequence :
    Chromosome: 10; NC_000010.10 (74092588..74114907, complement)
    See DNAJB12 in Epigenomics, MapViewer

    Chromosome 10 - NC_000010.10Genomic Context describing neighboring genes Neighboring gene activating signal cointegrator 1 complex subunit 1 Neighboring gene anaphase promoting complex subunit 16 Neighboring gene DNA-damage-inducible transcript 4 Neighboring gene mitochondrial calcium uptake 1 Neighboring gene sorting nexin 19 pseudogene 4 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 34

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. Povlsen LK, et al. Nat Cell Biol, 2012 Oct. PMID 23000965.
    2. A census of human soluble protein complexes. Havugimana PC, et al. Cell, 2012 Aug 31. PMID 22939629.
    3. Functional dissection of lysine deacetylases reveals that HDAC1 and p300 regulate AMPK. Lin YY, et al. Nature, 2012 Feb 8. PMID 22318606.
    4. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.
    5. Global identification of modular cullin-RING ligase substrates. Emanuele MJ, et al. Cell, 2011 Oct 14. PMID 21963094.

    See all (20) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. JB12 cooperates with cytosolic Hsc70 and the ubiquitin ligase RMA1 to target CFTR and CFTRDeltaF508 for degradation.
      Title: The endoplasmic reticulum-associated Hsp40 DNAJB12 and Hsc70 cooperate to facilitate RMA1 E3-dependent degradation of nascent CFTRDeltaF508.
    2. DNAJB12 is a novel mammalian ER-localized J-protein that plays a vital role in the quality control of membrane proteins
      Title: A novel ER J-protein DNAJB12 accelerates ER-associated degradation of membrane proteins including CFTR.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:120150 BioGRID:116223 DSTN    BioGRID  PubMed Co-fractionation 
    BioGRID:120150 BioGRID:109544 HSPA8    BioGRID  PubMed Co-fractionation 
    BioGRID:120150 BioGRID:110455 MME    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120150 BioGRID:110694 MYC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120150 BioGRID:116983 SIRT1    BioGRID  PubMed Negative Genetic 
    BioGRID:120150 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...

    Markers

    Genotypes

    Homology

    Clone Names

    • DKFZp586B2023

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    dnaJ homolog subfamily B member 12
    Names
    dnaJ homolog subfamily B member 12

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001002762.2 → NP_001002762.2  dnaJ homolog subfamily B member 12

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AC091769, AL833358, BC011812, BC064920, DC397260
      Consensus CDS
      CCDS7316.2
      UniProtKB/TrEMBL
      J3KPS0
      UniProtKB/Swiss-Prot
      Q9NXW2
      Related
      ENSP00000345575, ENST00000338820
      Conserved Domains (2) summary
      cd06257
      Location:144 – 197
      Blast Score: 225
      DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
      pfam09320
      Location:296 – 402
      Blast Score: 331
      DUF1977; Domain of unknown function (DUF1977)

    2. NM_017626.4 → NP_060096.3  dnaJ homolog subfamily B member 12

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AL833358, BC064920, DC397260
      Consensus CDS
      CCDS7316.2
      UniProtKB/TrEMBL
      J3KPS0
      UniProtKB/Swiss-Prot
      Q9NXW2
      Related
      ENSP00000378363, ENST00000394903
      Conserved Domains (2) summary
      cd06257
      Location:144 – 197
      Blast Score: 225
      DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...
      pfam09320
      Location:296 – 402
      Blast Score: 331
      DUF1977; Domain of unknown function (DUF1977)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000010.10 Reference GRCh37.p10 Primary Assembly

      Range
      74092588..74114907, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000142.1 Alternate HuRef

      Range
      68086789..68109106, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018921.1 Alternate CHM1_1.0

      Range
      74465517..74487836, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01020354.1 (47733..70050) None
    genomic AC091769.6 (136738..159019) None
    genomic AMYH01002823.1 (114648..136967) None
    genomic CH471083.1 EAW54454.1
      EAW54455.1
      EAW54456.1
    mRNA AK000034.1 BAA90896.1
    mRNA AK025942.1 BAB15289.1
    mRNA AK027259.1 None
    mRNA AK225051.1 None
    mRNA AK302071.1 BAH13619.1
    mRNA AL050381.1 CAH56413.1
    mRNA AL833358.1 None
    mRNA BC011812.2 AAH11812.2
    mRNA BC064920.1 AAH64920.1
    mRNA BI520000.1 None
    mRNA BQ935010.1 None
    mRNA DC397260.1 None
    other-genetic HQ448131.1 ADQ32612.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NXW2.4 GenPept UniProtKB/Swiss-Prot:Q9NXW2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
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    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
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      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
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      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
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        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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