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    DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 [ Homo sapiens (human) ]

    Gene ID: 374407, updated on 3-Apr-2024

    Summary

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    Official Symbol
    DNAJB13provided by HGNC
    Official Full Name
    DnaJ heat shock protein family (Hsp40) member B13provided by HGNC
    Primary source
    HGNC:HGNC:30718
    See related
    Ensembl:ENSG00000187726 MIM:610263; AllianceGenome:HGNC:30718
    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
    CILD34; TSARG5; TSARG6; RSPH16A
    Summary
    This gene encodes a member of the heat shock protein 40 co-chaperone family which is produced in large amounts in the testis and is located on the radial spokes of the axoneme in human sperm flagella and other flagellar structures. The encoded protein associates with the sperm annulus, as part of the septin complex, through direct interaction with septin 4, during sperm terminal differentiation. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and male infertility. [provided by RefSeq, Apr 2017]
    Expression
    Biased expression in testis (RPKM 1.9), lung (RPKM 0.6) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11q13.4
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (73951026..73970281)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (73880176..73899426)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (73662071..73681326)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5244 Neighboring gene cytochrome c oxidase assembly factor 4 homolog Neighboring gene proteasomal ATPase associated factor 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:73608007-73608786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5245 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:73631557-73631769 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73637447-73637946 Neighboring gene actin related protein 2/3 complex subunit 3 pseudogene 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:73643667-73643917 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:73647840-73648474 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5248 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3751 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73694725-73695225 Neighboring gene uncoupling protein 2 Neighboring gene DPPA4 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A novel homozygous mutation in DNAJB13-a gene associated with the sperm axoneme-leads to teratozoospermia. Liu M, et al. J Assist Reprod Genet, 2022 Mar. PMID 35166991, Free PMC Article
    2. Missense mutation in DNAJB13 gene correlated with male fertility in asthenozoospermia. Li WN, et al. Andrology, 2020 Mar. PMID 31342671
    3. Septins at the annulus of mammalian sperm. Toure A, et al. Biol Chem, 2011 Aug. PMID 21740329
    4. Molecular cloning of TSARG6 gene related to apoptosis in human spermatogenic cells. Liu G, et al. Acta Biochim Biophys Sin (Shanghai), 2004 Feb. PMID 14970903
    5. Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility. El Khouri E, et al. Am J Hum Genet, 2016 Aug 4. PMID 27486783, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel homozygous mutation in DNAJB13-a gene associated with the sperm axoneme-leads to teratozoospermia.
      Title: A novel homozygous mutation in DNAJB13-a gene associated with the sperm axoneme-leads to teratozoospermia.
    2. Missense mutation in DNAJB13 gene correlated with male fertility in asthenozoospermia.
      Title: Missense mutation in DNAJB13 gene correlated with male fertility in asthenozoospermia.
    3. this study, which establishes mutations in DNAJB13 as a cause of PCD, unveils the key role played by DNAJB13 in the proper formation and function of ciliary and flagellar axonemes in humans
      Title: Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.
    5. TSARG6 is specifically expressed in adult testis with a transcript of 1.8 kb, which has a role in spermatogenesis and apoptosis
      Title: Molecular cloning of TSARG6 gene related to apoptosis in human spermatogenic cells.
    Submit: New GeneRIF Correction

    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
    Primary ciliary dyskinesia 34
    MedGen: C4310722 OMIM: 617091 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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ46748

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-folding chaperone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables unfolded protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in axonemal central apparatus assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chaperone cofactor-dependent protein refolding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in motile cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of radial spoke ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sperm connecting piece ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dnaJ homolog subfamily B member 13
    Names
    DnaJ (Hsp40) homolog, subfamily B, member 13
    DnaJ (Hsp40) related, subfamily B, member 13
    DnaJ-like protein
    radial spoke 16 homolog A
    testis and spermatogenesis cell-related protein 6
    testis spermatocyte apoptosis-related gene 6 protein
    testis spermatogenesis apoptosis-related gene 3 protein
    testis spermatogenesis apoptosis-related gene 6 protein

    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.

    Genomic

    1. NG_053111.1 RefSeqGene

      Range
      5708..24963
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001377263.1 → NP_001364192.1  dnaJ homolog subfamily B member 13 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AP003717
      UniProtKB/TrEMBL
      H0YFX2
      Conserved Domains (2) summary
      PRK14288
      Location:2 → 122
      PRK14288; molecular chaperone DnaJ
      cd10747
      Location:82 → 244
      DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40

    2. NM_153614.4 → NP_705842.2  dnaJ homolog subfamily B member 13 isoform 1

      See identical proteins and their annotated locations for NP_705842.2

      Status: REVIEWED

      Source sequence(s)
      AY138810, AY325766
      Consensus CDS
      CCDS8227.1
      UniProtKB/Swiss-Prot
      B3LEP4, P59910, Q8IZW5
      Related
      ENSP00000344431.1, ENST00000339764.6
      Conserved Domains (3) summary
      cd10747
      Location:140 → 302
      DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40
      COG0484
      Location:1 → 312
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
      pfam00226
      Location:4 → 65
      DnaJ; DnaJ domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      73951026..73970281
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545004.4 → XP_011543306.1  dnaJ homolog subfamily B member 13 isoform X1

      Conserved Domains (3) summary
      cd10747
      Location:174 → 336
      DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40
      TIGR02349
      Location:48 → 346
      DnaJ_bact; chaperone protein DnaJ
      pfam00226
      Location:48 → 99
      DnaJ; DnaJ domain

    2. XM_011545005.3 → XP_011543307.1  dnaJ homolog subfamily B member 13 isoform X2

      Conserved Domains (3) summary
      smart00271
      Location:47 → 92
      DnaJ; DnaJ molecular chaperone homology domain
      cd10747
      Location:120 → 282
      DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40
      TIGR02349
      Location:48 → 292
      DnaJ_bact; chaperone protein DnaJ

    3. XM_024448510.2 → XP_024304278.1  dnaJ homolog subfamily B member 13 isoform X4

      UniProtKB/TrEMBL
      H0YFX2
      Conserved Domains (2) summary
      PRK14288
      Location:2 → 122
      PRK14288; molecular chaperone DnaJ
      cd10747
      Location:82 → 244
      DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40

    4. XM_024448508.2 → XP_024304276.1  dnaJ homolog subfamily B member 13 isoform X4

      UniProtKB/TrEMBL
      H0YFX2
      Conserved Domains (2) summary
      PRK14288
      Location:2 → 122
      PRK14288; molecular chaperone DnaJ
      cd10747
      Location:82 → 244
      DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40

    5. XM_024448509.2 → XP_024304277.1  dnaJ homolog subfamily B member 13 isoform X4

      UniProtKB/TrEMBL
      H0YFX2
      Conserved Domains (2) summary
      PRK14288
      Location:2 → 122
      PRK14288; molecular chaperone DnaJ
      cd10747
      Location:82 → 244
      DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40

    6. XM_011545009.4 → XP_011543311.1  dnaJ homolog subfamily B member 13 isoform X4

      See identical proteins and their annotated locations for XP_011543311.1

      UniProtKB/TrEMBL
      H0YFX2
      Conserved Domains (2) summary
      PRK14288
      Location:2 → 122
      PRK14288; molecular chaperone DnaJ
      cd10747
      Location:82 → 244
      DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40

    7. XM_024448507.2 → XP_024304275.1  dnaJ homolog subfamily B member 13 isoform X4

      UniProtKB/TrEMBL
      H0YFX2
      Conserved Domains (2) summary
      PRK14288
      Location:2 → 122
      PRK14288; molecular chaperone DnaJ
      cd10747
      Location:82 → 244
      DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40

    8. XM_005273984.4 → XP_005274041.1  dnaJ homolog subfamily B member 13 isoform X3

      Conserved Domains (3) summary
      cd10747
      Location:86 → 248
      DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40
      COG0484
      Location:1 → 258
      DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
      pfam00226
      Location:4 → 57
      DnaJ; DnaJ domain

    9. XM_011545013.3 → XP_011543315.1  dnaJ homolog subfamily B member 13 isoform X5

      Conserved Domains (2) summary
      pfam00226
      Location:48 → 99
      DnaJ; DnaJ domain
      cl21722
      Location:174 → 238
      DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40

    10. XM_011545014.3 → XP_011543316.1  dnaJ homolog subfamily B member 13 isoform X6

      Conserved Domains (1) summary
      pfam00226
      Location:48 → 99
      DnaJ; DnaJ domain

    11. XM_017017679.2 → XP_016873168.1  dnaJ homolog subfamily B member 13 isoform X6

      Conserved Domains (1) summary
      pfam00226
      Location:48 → 99
      DnaJ; DnaJ domain

    12. XM_047426915.1 → XP_047282871.1  dnaJ homolog subfamily B member 13 isoform X4

    13. XM_017017675.2 → XP_016873164.1  dnaJ homolog subfamily B member 13 isoform X4

      UniProtKB/TrEMBL
      H0YFX2
      Conserved Domains (2) summary
      PRK14288
      Location:2 → 122
      PRK14288; molecular chaperone DnaJ
      cd10747
      Location:82 → 244
      DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40

    14. XM_011545015.3 → XP_011543317.1  dnaJ homolog subfamily B member 13 isoform X7

      Conserved Domains (1) summary
      cd10747
      Location:35 → 161
      DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40

    RNA

    1. XR_949909.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      73880176..73899426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368714.1 → XP_054224689.1  dnaJ homolog subfamily B member 13 isoform X1

    2. XM_054368715.1 → XP_054224690.1  dnaJ homolog subfamily B member 13 isoform X2

    3. XM_054368723.1 → XP_054224698.1  dnaJ homolog subfamily B member 13 isoform X4

    4. XM_054368720.1 → XP_054224695.1  dnaJ homolog subfamily B member 13 isoform X4

    5. XM_054368722.1 → XP_054224697.1  dnaJ homolog subfamily B member 13 isoform X4

    6. XM_054368721.1 → XP_054224696.1  dnaJ homolog subfamily B member 13 isoform X4

    7. XM_054368717.1 → XP_054224692.1  dnaJ homolog subfamily B member 13 isoform X4

    8. XM_054368716.1 → XP_054224691.1  dnaJ homolog subfamily B member 13 isoform X3

    9. XM_054368724.1 → XP_054224699.1  dnaJ homolog subfamily B member 13 isoform X5

    10. XM_054368726.1 → XP_054224701.1  dnaJ homolog subfamily B member 13 isoform X6

    11. XM_054368725.1 → XP_054224700.1  dnaJ homolog subfamily B member 13 isoform X6

    12. XM_054368719.1 → XP_054224694.1  dnaJ homolog subfamily B member 13 isoform X4

    13. XM_054368718.1 → XP_054224693.1  dnaJ homolog subfamily B member 13 isoform X4

    14. XM_054368727.1 → XP_054224702.1  dnaJ homolog subfamily B member 13 isoform X7

    RNA

    1. XR_008488394.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P59910.1 GenPept UniProtKB/Swiss-Prot:P59910

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