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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
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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
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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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