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    DNAJC12 DnaJ heat shock protein family (Hsp40) member C12 [ Homo sapiens (human) ]

    Gene ID: 56521, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DNAJC12provided by HGNC
    Official Full Name
    DnaJ heat shock protein family (Hsp40) member C12provided by HGNC
    Primary source
    HGNC:HGNC:28908
    See related
    Ensembl:ENSG00000108176 MIM:606060; AllianceGenome:HGNC:28908
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JDP1; HPANBH4
    Summary
    This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in adrenal (RPKM 18.5), liver (RPKM 12.0) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DNAJC12 in Genome Data Viewer
    Location:
    10q21.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (67796669..67838188, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (68665111..68706704, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (69556427..69597946, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene tRNA-Ser (anticodon TGA) 1-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3451 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3455 Neighboring gene ribosomal protein L21 pseudogene 92 Neighboring gene RNA, U6 small nuclear 1250, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:69578643-69579144 Neighboring gene RNA, 7SL, cytoplasmic 394, pseudogene Neighboring gene DnaJ heat shock protein family (Hsp40) member C19 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3457 Neighboring gene Sharpr-MPRA regulatory region 12986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:69620921-69621442 Neighboring gene RNA, U6 small nuclear 523, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr10:69628867-69628993 Neighboring gene ribosomal protein L12 pseudogene 8

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. DNAJC12 in Monoamine Metabolism, Neurodevelopment, and Neurodegeneration. Deng IB, et al. Mov Disord, 2024 Feb. PMID 38014588
    2. Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. Anikster Y, et al. Am J Hum Genet, 2017 Feb 2. PMID 28132689, Free PMC Article
    3. DNAJC12 and dopa-responsive nonprogressive parkinsonism. Straniero L, et al. Ann Neurol, 2017 Oct. PMID 28892570
    4. DNAJC12 mutation is rare in Chinese Han population with Parkinson's disease. Fan Y, et al. Neurobiol Aging, 2018 Aug. PMID 29801756
    5. DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis. Veenma D, et al. Eur J Hum Genet, 2018 Dec. PMID 30139987, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DNAJC12 in Monoamine Metabolism, Neurodevelopment, and Neurodegeneration.
      Title: DNAJC12 in Monoamine Metabolism, Neurodevelopment, and Neurodegeneration.
    2. DNAJC12 causes breast cancer chemotherapy resistance by repressing doxorubicin-induced ferroptosis and apoptosis via activation of AKT.
      Title: DNAJC12 causes breast cancer chemotherapy resistance by repressing doxorubicin-induced ferroptosis and apoptosis via activation of AKT.
    3. A rare cause of hyperphenylalaninemia: four cases from a single family with DNAJC12 deficiency.
      Title: A rare cause of hyperphenylalaninemia: four cases from a single family with DNAJC12 deficiency.
    4. Restless legs syndrome in DNAJC12 deficiency.
      Title: Restless legs syndrome in DNAJC12 deficiency.
    5. DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
      Title: DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
    6. DNAJC12 promotes lung cancer growth by regulating the activation of betacatenin.
      Title: DNAJC12 promotes lung cancer growth by regulating the activation of β‑catenin.
    7. Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.
      Title: Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.
    8. Our results support a role of DNAJC12 in the processing of misfolded ubiquitinated PAH by the ubiquitin-dependent proteasome/autophagy systems and add to the evidence that the DNAJ proteins are important players both for proper folding and degradation of their clients.
      Title: Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12.
    9. High DNAJC12 expression is associated with gastric Cancer.
      Title: Increased Expression of DNAJC12 is Associated with Aggressive Phenotype of Gastric Cancer.
    10. DNAJC12 mutation was identified in two siblings with developmental delay, movement disorder, and mild hyperphenylalaninemia.
      Title: DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hyperphenylalaninemia due to DNAJC12 deficiency
    MedGen: C4479270 OMIM: 617384 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dnaJ homolog subfamily C member 12
    Names
    DnaJ (Hsp40) homolog, subfamily C, member 12
    J domain containing protein 1 (JDP1)
    J domain protein 1
    j domain-containing protein 1

    NCBI Reference Sequences (RefSeq)

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    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_021800.3 → NP_068572.1  dnaJ homolog subfamily C member 12 isoform a

      See identical proteins and their annotated locations for NP_068572.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (a).
      Source sequence(s)
      AF176012, AL133551, CB121724
      Consensus CDS
      CCDS7271.1
      UniProtKB/Swiss-Prot
      Q5JVQ1, Q9UKB2, Q9UKB3
      UniProtKB/TrEMBL
      Q6IAH1, S4R3E2
      Related
      ENSP00000225171.2, ENST00000225171.7
      Conserved Domains (2) summary
      COG2214
      Location:9 → 164
      CbpA; Curved DNA-binding protein CbpA, contains a DnaJ-like domain [Transcription]
      pfam00226
      Location:14 → 76
      DnaJ; DnaJ domain

    2. NM_201262.2 → NP_957714.1  dnaJ homolog subfamily C member 12 isoform b

      See identical proteins and their annotated locations for NP_957714.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and has multiple coding region differences compared to variant 1. The resulting isoform (b) contains a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AF176013, AL133551, CB121724
      Consensus CDS
      CCDS7272.1
      UniProtKB/Swiss-Prot
      Q9UKB3
      Related
      ENSP00000343575.6, ENST00000339758.7
      Conserved Domains (1) summary
      pfam00226
      Location:14 → 76
      DnaJ; DnaJ domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      67796669..67838188 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      68665111..68706704 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UKB3.1 GenPept UniProtKB/Swiss-Prot:Q9UKB3

    Gene LinkOut

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

    Other Literature Sources
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