UniProtKB - P59910 (DJB13_HUMAN)
Protein
DnaJ homolog subfamily B member 13
Gene
DNAJB13
Organism
Homo sapiens (Human)
Status
Functioni
Plays a role in the formation of the central complex of ciliary and flagellar axonemes.By similarity1 Publication
GO - Molecular functioni
- chaperone binding Source: GO_Central
- unfolded protein binding Source: GO_Central
GO - Biological processi
- axonemal central apparatus assembly Source: UniProtKB
- chaperone cofactor-dependent protein refolding Source: GO_Central
Keywordsi
Molecular function | Chaperone |
Biological process | Cilium biogenesis/degradation |
Enzyme and pathway databases
PathwayCommonsi | P59910 |
Names & Taxonomyi
Protein namesi | Recommended name: DnaJ homolog subfamily B member 13Alternative name(s): 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 |
Gene namesi | Name:DNAJB13 Synonyms:TSARG3, TSARG6 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000187726.8 |
HGNCi | HGNC:30718, DNAJB13 |
MIMi | 610263, gene |
neXtProti | NX_P59910 |
Subcellular locationi
Other locations
- flagellum 1 Publication
Note: Localizes both to epithelial motile cilium and the sperm flagellum (PubMed:27486783). In spermatids, rapidly enriched in the coupling apparatus with the elongation of the spermatid. Tightly attached to the implantation fossa during the maturation of the spermatid. In mature spermatzoa evenly distributed along the flagellum (By similarity).By similarity1 Publication
Cytoskeleton
- axoneme Source: Ensembl
Cytosol
- cytosol Source: GO_Central
Other locations
- motile cilium Source: UniProtKB
- sperm connecting piece Source: UniProtKB
- sperm flagellum Source: UniProtKB
Keywords - Cellular componenti
Cell projection, Cilium, FlagellumPathology & Biotechi
Involvement in diseasei
Ciliary dyskinesia, primary, 34 (CILD34)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD34 inheritance is autosomal recessive.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077053 | 278 | M → R in CILD34; loss of expression in patient cells; increased proteasome-mediated degradation; no effect on homodimerization. 1 PublicationCorresponds to variant dbSNP:rs754776389EnsemblClinVar. | 1 |
Keywords - Diseasei
Ciliopathy, Disease mutation, Primary ciliary dyskinesiaOrganism-specific databases
DisGeNETi | 374407 |
MalaCardsi | DNAJB13 |
MIMi | 617091, phenotype |
OpenTargetsi | ENSG00000187726 |
Orphaneti | 244, Primary ciliary dyskinesia |
PharmGKBi | PA142671972 |
Miscellaneous databases
Pharosi | P59910, Tbio |
Polymorphism and mutation databases
BioMutai | DNAJB13 |
DMDMi | 41704179 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000071039 | 1 – 316 | DnaJ homolog subfamily B member 13Add BLAST | 316 |
Proteomic databases
MassIVEi | P59910 |
PaxDbi | P59910 |
PeptideAtlasi | P59910 |
PRIDEi | P59910 |
ProteomicsDBi | 57169 [P59910-1] 57170 [P59910-2] |
PTM databases
iPTMneti | P59910 |
PhosphoSitePlusi | P59910 |
Expressioni
Tissue specificityi
Specifically expressed in testis and trachea.1 Publication
Gene expression databases
Bgeei | ENSG00000187726, Expressed in right uterine tube and 121 other tissues |
ExpressionAtlasi | P59910, baseline and differential |
Genevisiblei | P59910, HS |
Organism-specific databases
HPAi | ENSG00000187726, Group enriched (fallopian tube, testis) |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsP59910
GO - Molecular functioni
- chaperone binding Source: GO_Central
- unfolded protein binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 131900, 12 interactors |
IntActi | P59910, 14 interactors |
MINTi | P59910 |
STRINGi | 9606.ENSP00000344431 |
Miscellaneous databases
RNActi | P59910, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 4 – 68 | JPROSITE-ProRule annotationAdd BLAST | 65 |
Phylogenomic databases
eggNOGi | KOG0714, Eukaryota |
GeneTreei | ENSGT00940000158090 |
HOGENOMi | CLU_017633_10_2_1 |
InParanoidi | P59910 |
OMAi | AMQKFRI |
OrthoDBi | 1393097at2759 |
PhylomeDBi | P59910 |
TreeFami | TF105141 |
Family and domain databases
CDDi | cd06257, DnaJ, 1 hit |
Gene3Di | 1.10.287.110, 1 hit |
InterProi | View protein in InterPro IPR002939, DnaJ_C IPR001623, DnaJ_domain IPR018253, DnaJ_domain_CS IPR008971, HSP40/DnaJ_pept-bd IPR036869, J_dom_sf |
Pfami | View protein in Pfam PF00226, DnaJ, 1 hit PF01556, DnaJ_C, 1 hit |
PRINTSi | PR00625, JDOMAIN |
SMARTi | View protein in SMART SM00271, DnaJ, 1 hit |
SUPFAMi | SSF46565, SSF46565, 1 hit SSF49493, SSF49493, 2 hits |
PROSITEi | View protein in PROSITE PS00636, DNAJ_1, 1 hit PS50076, DNAJ_2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: P59910-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MGQDYYSVLG ITRNSEDAQI KQAYRRLALK HHPLKSNEPS SAEIFRQIAE
60 70 80 90 100
AYDVLSDPMK RGIYDKFGEE GLKGGIPLEF GSQTPWTTGY VFHGKPEKVF
110 120 130 140 150
HEFFGGNNPF SEFFDAEGSE VDLNFGGLQG RGVKKQDPQV ERDLYLSLED
160 170 180 190 200
LFFGCTKKIK ISRRVLNEDG YSSTIKDKIL TIDVKPGWRQ GTRITFEKEG
210 220 230 240 250
DQGPNIIPAD IIFIVKEKLH PRFRRENDNL FFVNPIPLGK ALTCCTVEVR
260 270 280 290 300
TLDDRLLNIP INDIIHPKYF KKVPGEGMPL PEDPTKKGDL FIFFDIQFPT
310
RLTPQKKQML RQALLT
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH0YFX2 | H0YFX2_HUMAN | DnaJ homolog subfamily B member 13 | DNAJB13 | 217 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077053 | 278 | M → R in CILD34; loss of expression in patient cells; increased proteasome-mediated degradation; no effect on homodimerization. 1 PublicationCorresponds to variant dbSNP:rs754776389EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_008519 | 1 – 175 | Missing in isoform 2. 1 PublicationAdd BLAST | 175 | |
Alternative sequenceiVSP_008520 | 176 – 201 | KDKIL…EKEGD → METSRGRNLAKVTRPTSPCH LLASPA in isoform 2. 1 PublicationAdd BLAST | 26 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF419291 mRNA Translation: AAN32702.1 Sequence problems. AF516185 mRNA Translation: AAP47195.1 AY138810 mRNA Translation: AAN15929.1 AY325766 mRNA Translation: AAQ17190.1 AP003717 Genomic DNA No translation available. CH471076 Genomic DNA Translation: EAW74920.1 |
CCDSi | CCDS8227.1 [P59910-1] |
RefSeqi | NP_705842.2, NM_153614.3 [P59910-1] |
Genome annotation databases
Ensembli | ENST00000339764; ENSP00000344431; ENSG00000187726 [P59910-1] ENST00000537753; ENSP00000439711; ENSG00000187726 [P59910-2] ENST00000543947; ENSP00000438576; ENSG00000187726 [P59910-2] |
GeneIDi | 374407 |
KEGGi | hsa:374407 |
UCSCi | uc001ouo.3, human [P59910-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF419291 mRNA Translation: AAN32702.1 Sequence problems. AF516185 mRNA Translation: AAP47195.1 AY138810 mRNA Translation: AAN15929.1 AY325766 mRNA Translation: AAQ17190.1 AP003717 Genomic DNA No translation available. CH471076 Genomic DNA Translation: EAW74920.1 |
CCDSi | CCDS8227.1 [P59910-1] |
RefSeqi | NP_705842.2, NM_153614.3 [P59910-1] |
3D structure databases
SMRi | P59910 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 131900, 12 interactors |
IntActi | P59910, 14 interactors |
MINTi | P59910 |
STRINGi | 9606.ENSP00000344431 |
PTM databases
iPTMneti | P59910 |
PhosphoSitePlusi | P59910 |
Polymorphism and mutation databases
BioMutai | DNAJB13 |
DMDMi | 41704179 |
Proteomic databases
MassIVEi | P59910 |
PaxDbi | P59910 |
PeptideAtlasi | P59910 |
PRIDEi | P59910 |
ProteomicsDBi | 57169 [P59910-1] 57170 [P59910-2] |
Protocols and materials databases
Antibodypediai | 31001, 83 antibodies |
DNASUi | 374407 |
Genome annotation databases
Ensembli | ENST00000339764; ENSP00000344431; ENSG00000187726 [P59910-1] ENST00000537753; ENSP00000439711; ENSG00000187726 [P59910-2] ENST00000543947; ENSP00000438576; ENSG00000187726 [P59910-2] |
GeneIDi | 374407 |
KEGGi | hsa:374407 |
UCSCi | uc001ouo.3, human [P59910-1] |
Organism-specific databases
CTDi | 374407 |
DisGeNETi | 374407 |
EuPathDBi | HostDB:ENSG00000187726.8 |
GeneCardsi | DNAJB13 |
HGNCi | HGNC:30718, DNAJB13 |
HPAi | ENSG00000187726, Group enriched (fallopian tube, testis) |
MalaCardsi | DNAJB13 |
MIMi | 610263, gene 617091, phenotype |
neXtProti | NX_P59910 |
OpenTargetsi | ENSG00000187726 |
Orphaneti | 244, Primary ciliary dyskinesia |
PharmGKBi | PA142671972 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0714, Eukaryota |
GeneTreei | ENSGT00940000158090 |
HOGENOMi | CLU_017633_10_2_1 |
InParanoidi | P59910 |
OMAi | AMQKFRI |
OrthoDBi | 1393097at2759 |
PhylomeDBi | P59910 |
TreeFami | TF105141 |
Enzyme and pathway databases
PathwayCommonsi | P59910 |
Miscellaneous databases
BioGRID-ORCSi | 374407, 27 hits in 851 CRISPR screens |
ChiTaRSi | DNAJB13, human |
GenomeRNAii | 374407 |
Pharosi | P59910, Tbio |
PROi | PR:P59910 |
RNActi | P59910, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000187726, Expressed in right uterine tube and 121 other tissues |
ExpressionAtlasi | P59910, baseline and differential |
Genevisiblei | P59910, HS |
Family and domain databases
CDDi | cd06257, DnaJ, 1 hit |
Gene3Di | 1.10.287.110, 1 hit |
InterProi | View protein in InterPro IPR002939, DnaJ_C IPR001623, DnaJ_domain IPR018253, DnaJ_domain_CS IPR008971, HSP40/DnaJ_pept-bd IPR036869, J_dom_sf |
Pfami | View protein in Pfam PF00226, DnaJ, 1 hit PF01556, DnaJ_C, 1 hit |
PRINTSi | PR00625, JDOMAIN |
SMARTi | View protein in SMART SM00271, DnaJ, 1 hit |
SUPFAMi | SSF46565, SSF46565, 1 hit SSF49493, SSF49493, 2 hits |
PROSITEi | View protein in PROSITE PS00636, DNAJ_1, 1 hit PS50076, DNAJ_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DJB13_HUMAN | |
Accessioni | P59910Primary (citable) accession number: P59910 Secondary accession number(s): B3LEP4, Q8IZW5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 10, 2003 |
Last sequence update: | October 10, 2003 | |
Last modified: | December 2, 2020 | |
This is version 142 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations