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Protein

DnaJ homolog subfamily B member 13

Gene

DNAJB13

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 functionChaperone
Biological processCilium biogenesis/degradation

Names & Taxonomyi

Protein namesi
Recommended name:
DnaJ homolog subfamily B member 13
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000187726.8
HGNCiHGNC:30718 DNAJB13
MIMi610263 gene
neXtProtiNX_P59910

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Flagellum

Pathology & 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.
See also OMIM:617091
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077053278M → 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 dyskinesia

Organism-specific databases

DisGeNETi374407
MalaCardsiDNAJB13
MIMi617091 phenotype
OpenTargetsiENSG00000187726
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA142671972

Polymorphism and mutation databases

BioMutaiDNAJB13
DMDMi41704179

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000710391 – 316DnaJ homolog subfamily B member 13Add BLAST316

Proteomic databases

PaxDbiP59910
PeptideAtlasiP59910
PRIDEiP59910
ProteomicsDBi57169
57170 [P59910-2]

PTM databases

iPTMnetiP59910
PhosphoSitePlusiP59910

Expressioni

Tissue specificityi

Specifically expressed in testis and trachea.1 Publication

Gene expression databases

BgeeiENSG00000187726 Expressed in 94 organ(s), highest expression level in right uterine tube
CleanExiHS_DNAJB13
ExpressionAtlasiP59910 baseline and differential
GenevisibleiP59910 HS

Organism-specific databases

HPAiHPA052465
HPA061330

Interactioni

Subunit structurei

Homodimer (PubMed:27486783). Interacts with SUN5 (By similarity).By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
PB2B4URF72EBI-11514233,EBI-6050648From Influenza A virus (strain A/Wilson-Smith/1933 H1N1).

GO - Molecular functioni

Protein-protein interaction databases

IntActiP59910, 14 interactors
MINTiP59910
STRINGi9606.ENSP00000344431

Structurei

3D structure databases

ProteinModelPortaliP59910
SMRiP59910
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini4 – 68JPROSITE-ProRule annotationAdd BLAST65

Phylogenomic databases

eggNOGiKOG0714 Eukaryota
COG0484 LUCA
GeneTreeiENSGT00760000118947
HOGENOMiHOG000226718
HOVERGENiHBG066727
InParanoidiP59910
KOiK09519
OMAiAMQKFRI
OrthoDBiEOG091G0DLS
PhylomeDBiP59910
TreeFamiTF105141

Family and domain databases

CDDicd06257 DnaJ, 1 hit
Gene3Di1.10.287.110, 1 hit
InterProiView protein in InterPro
IPR002939 DnaJ_C
IPR001623 DnaJ_domain
IPR018253 DnaJ_domain_CS
IPR008971 HSP40/DnaJ_pept-bd
IPR036869 J_dom_sf
PfamiView protein in Pfam
PF00226 DnaJ, 1 hit
PF01556 DnaJ_C, 1 hit
PRINTSiPR00625 JDOMAIN
SMARTiView protein in SMART
SM00271 DnaJ, 1 hit
SUPFAMiSSF46565 SSF46565, 1 hit
SSF49493 SSF49493, 2 hits
PROSITEiView protein in PROSITE
PS00636 DNAJ_1, 1 hit
PS50076 DNAJ_2, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This 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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:316
Mass (Da):36,118
Last modified:October 10, 2003 - v1
Checksum:i8251CB720724B7E5
GO
Isoform 2 (identifier: P59910-2) [UniParc]FASTAAdd to basket
Also known as: TSARG5

The sequence of this isoform differs from the canonical sequence as follows:
     1-175: Missing.
     176-201: KDKILTIDVKPGWRQGTRITFEKEGD → METSRGRNLAKVTRPTSPCHLLASPA

Show »
Length:141
Mass (Da):16,085
Checksum:i8E9BCD598D26A1DC
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YFX2H0YFX2_HUMAN
DnaJ homolog subfamily B member 13
DNAJB13
217Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077053278M → 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 keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0085191 – 175Missing in isoform 2. 1 PublicationAdd BLAST175
Alternative sequenceiVSP_008520176 – 201KDKIL…EKEGD → METSRGRNLAKVTRPTSPCH LLASPA in isoform 2. 1 PublicationAdd BLAST26

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
CCDSiCCDS8227.1 [P59910-1]
RefSeqiNP_705842.2, NM_153614.3 [P59910-1]
UniGeneiHs.567888

Genome annotation databases

EnsembliENST00000339764; ENSP00000344431; ENSG00000187726 [P59910-1]
ENST00000537753; ENSP00000439711; ENSG00000187726 [P59910-2]
ENST00000543947; ENSP00000438576; ENSG00000187726 [P59910-2]
GeneIDi374407
KEGGihsa:374407
UCSCiuc001ouo.3 human [P59910-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar 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
CCDSiCCDS8227.1 [P59910-1]
RefSeqiNP_705842.2, NM_153614.3 [P59910-1]
UniGeneiHs.567888

3D structure databases

ProteinModelPortaliP59910
SMRiP59910
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiP59910, 14 interactors
MINTiP59910
STRINGi9606.ENSP00000344431

PTM databases

iPTMnetiP59910
PhosphoSitePlusiP59910

Polymorphism and mutation databases

BioMutaiDNAJB13
DMDMi41704179

Proteomic databases

PaxDbiP59910
PeptideAtlasiP59910
PRIDEiP59910
ProteomicsDBi57169
57170 [P59910-2]

Protocols and materials databases

DNASUi374407
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000339764; ENSP00000344431; ENSG00000187726 [P59910-1]
ENST00000537753; ENSP00000439711; ENSG00000187726 [P59910-2]
ENST00000543947; ENSP00000438576; ENSG00000187726 [P59910-2]
GeneIDi374407
KEGGihsa:374407
UCSCiuc001ouo.3 human [P59910-1]

Organism-specific databases

CTDi374407
DisGeNETi374407
EuPathDBiHostDB:ENSG00000187726.8
GeneCardsiDNAJB13
H-InvDBiHIX0171374
HGNCiHGNC:30718 DNAJB13
HPAiHPA052465
HPA061330
MalaCardsiDNAJB13
MIMi610263 gene
617091 phenotype
neXtProtiNX_P59910
OpenTargetsiENSG00000187726
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA142671972
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0714 Eukaryota
COG0484 LUCA
GeneTreeiENSGT00760000118947
HOGENOMiHOG000226718
HOVERGENiHBG066727
InParanoidiP59910
KOiK09519
OMAiAMQKFRI
OrthoDBiEOG091G0DLS
PhylomeDBiP59910
TreeFamiTF105141

Miscellaneous databases

GenomeRNAii374407
PROiPR:P59910
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000187726 Expressed in 94 organ(s), highest expression level in right uterine tube
CleanExiHS_DNAJB13
ExpressionAtlasiP59910 baseline and differential
GenevisibleiP59910 HS

Family and domain databases

CDDicd06257 DnaJ, 1 hit
Gene3Di1.10.287.110, 1 hit
InterProiView protein in InterPro
IPR002939 DnaJ_C
IPR001623 DnaJ_domain
IPR018253 DnaJ_domain_CS
IPR008971 HSP40/DnaJ_pept-bd
IPR036869 J_dom_sf
PfamiView protein in Pfam
PF00226 DnaJ, 1 hit
PF01556 DnaJ_C, 1 hit
PRINTSiPR00625 JDOMAIN
SMARTiView protein in SMART
SM00271 DnaJ, 1 hit
SUPFAMiSSF46565 SSF46565, 1 hit
SSF49493 SSF49493, 2 hits
PROSITEiView protein in PROSITE
PS00636 DNAJ_1, 1 hit
PS50076 DNAJ_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDJB13_HUMAN
AccessioniPrimary (citable) accession number: P59910
Secondary accession number(s): B3LEP4, Q8IZW5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2003
Last sequence update: October 10, 2003
Last modified: November 7, 2018
This is version 128 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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