DNAJB13

Protein identityUniProt · HPA

UniProt accession

P59910

Gene

DNAJB13

Ensembl

ENSG00000187726

Chromosome

11

Canonical length

316 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoli,Nucleoli rim,Mitotic chromosome,Vesicles,Plasma membrane,Primary cilium,Primary cilium tip,Mid piece,Principal piece,End piece

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

316 residues, UniProt reviewed canonical sequence.

>P59910|DNAJB13
     1  MGQDYYSVLG ITRNSEDAQI KQAYRRLALK HHPLKSNEPS SAEIFRQIAE AYDVLSDPMK
    61  RGIYDKFGEE GLKGGIPLEF GSQTPWTTGY VFHGKPEKVF HEFFGGNNPF SEFFDAEGSE
   121  VDLNFGGLQG RGVKKQDPQV ERDLYLSLED LFFGCTKKIK ISRRVLNEDG YSSTIKDKIL
   181  TIDVKPGWRQ GTRITFEKEG DQGPNIIPAD IIFIVKEKLH PRFRRENDNL FFVNPIPLGK
   241  ALTCCTVEVR TLDDRLLNIP INDIIHPKYF KKVPGEGMPL PEDPTKKGDL FIFFDIQFPT
   301  RLTPQKKQML RQALLT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DNAJB13 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.33

Highest tissue expression

50 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DNAJB13.

Disease | AllUniProt

Conditions DNAJB13 is implicated in, by any mechanism.

• Ciliary dyskinesia, primary, 34 (CILD34) MIM:617091

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 230 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Primary ciliary dyskinesia 34

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.78

gnomAD pLI

0

gnomAD missense Z

0.68

DepMap mean gene effect

-0.1

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• axonemal central apparatus assembly
• protein folding

Molecular functions

• protein-folding chaperone binding
• unfolded protein binding

Cellular components

• cytosol
• motile cilium
• radial spoke
• sperm flagellum
• sperm head-tail coupling apparatus

Protein domainsUniProt · Pfam · InterPro

• DnaJ domain
• Chaperone DnaJ, C-terminal
• HSP40/DnaJ peptide-binding
• DnaJ domain, conserved site
• Chaperone J-domain superfamily
• DnaJ homolog subfamily B
• DnaJ domain
• DnaJ C terminal domain

KeywordsUniProt

• Cell projection
• Chaperone
• Ciliopathy
• Cilium
• Cilium biogenesis/degradation
• Flagellum
• Primary ciliary dyskinesia

InteractionsUniProt · HPA

Protein binding partners of DNAJB13 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DNAH12
• IQUB
• SUN5