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Protein

DnaJ homolog subfamily C member 5

Gene

DNAJC5

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

Functioni

Acts as a general chaperone in regulated exocytosis (By similarity). Acts as a co-chaperone for the SNARE protein SNAP-25 (By similarity). Involved in the calcium-mediated control of a late stage of exocytosis (By similarity). May have an important role in presynaptic function. May be involved in calcium-dependent neurotransmitter release at nerve endings (By similarity).By similarity

Miscellaneous

Upon phosphorylation, Ser-10 interacts with Lys-58, a highly conserved residue in DnaJ proteins that is also a ubiquitination site in DNAJC5.1 Publication

GO - Biological processi

  • exocytosis Source: ParkinsonsUK-UCL
  • negative regulation of neuron apoptotic process Source: Ensembl
  • neutrophil degranulation Source: Reactome
  • regulated exocytosis Source: ParkinsonsUK-UCL
  • synaptic vesicle exocytosis Source: ParkinsonsUK-UCL

Keywordsi

Molecular functionChaperone

Enzyme and pathway databases

ReactomeiR-HSA-6798695 Neutrophil degranulation
R-HSA-888590 GABA synthesis, release, reuptake and degradation
SIGNORiQ9H3Z4

Names & Taxonomyi

Protein namesi
Recommended name:
DnaJ homolog subfamily C member 5Curated
Alternative name(s):
Ceroid-lipofuscinosis neuronal protein 4Curated
Cysteine string protein1 Publication
Short name:
CSP1 Publication
Gene namesi
Name:DNAJC5Imported
Synonyms:CLN4Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000101152.10
HGNCiHGNC:16235 DNAJC5
MIMi611203 gene
neXtProtiNX_Q9H3Z4

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 membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Ceroid lipofuscinosis, neuronal, 4B (CLN4B)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4B has no visual involvement and is characterized by seizures and other neurologic symptoms.
See also OMIM:162350
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066555115L → R in CLN4B; results in near absence of palmitoylated monomeric forms of the protein and formation of high molecular mass aggregates with diffuse intracellular localization. 5 PublicationsCorresponds to variant dbSNP:rs387907043EnsemblClinVar.1
Natural variantiVAR_066556116Missing in CLN4B; results in near absence of palmitoylated monomeric forms of the protein and formation of high molecular mass aggregates with diffuse intracellular localization. 4 Publications1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi10S → A or E: Increased syntaxin binding. 1 Publication1
Mutagenesisi113 – 136CGLLT…CCGKC → SGLLTSSYSSSSLSSSFNSS SGKS: No effect on oligomerization. 1 PublicationAdd BLAST24

Keywords - Diseasei

Disease mutation, Neurodegeneration, Neuronal ceroid lipofuscinosis

Organism-specific databases

DisGeNETi80331
GeneReviewsiDNAJC5
MalaCardsiDNAJC5
MIMi162350 phenotype
OpenTargetsiENSG00000101152
Orphaneti228343 CLN4B disease
PharmGKBiPA27422

Polymorphism and mutation databases

BioMutaiDNAJC5
DMDMi15213953

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000710521 – 198DnaJ homolog subfamily C member 5Add BLAST198

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei8PhosphoserineCombined sources1
Modified residuei10PhosphoserineCombined sources2 Publications1
Modified residuei12PhosphoserineCombined sources1
Modified residuei15PhosphoserineCombined sources1
Modified residuei17PhosphotyrosineCombined sources1
Modified residuei56N6-acetyllysineCombined sources1
Modified residuei151PhosphoserineBy similarity1

Post-translational modificationi

Fatty acylated (By similarity). Heavily palmitoylated in the cysteine string motif (By similarity).By similarity
Ser-10 phosphorylation induces an order-to-disorder transition triggering the interaction with Lys-58 (PubMed:27452402). This conformational switch modulates DNAJC5's cellular functions by reducing binding to syntaxin and synaptogamin without altering HSC70 interactions (PubMed:27452402).1 Publication

Keywords - PTMi

Acetylation, Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

EPDiQ9H3Z4
MaxQBiQ9H3Z4
PaxDbiQ9H3Z4
PeptideAtlasiQ9H3Z4
PRIDEiQ9H3Z4

PTM databases

iPTMnetiQ9H3Z4
PhosphoSitePlusiQ9H3Z4
SwissPalmiQ9H3Z4

Expressioni

Tissue specificityi

Expressed in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain and heart.1 Publication

Gene expression databases

BgeeiENSG00000101152
CleanExiHS_DNAJC5
GenevisibleiQ9H3Z4 HS

Organism-specific databases

HPAiHPA012737
HPA013154

Interactioni

Subunit structurei

Oligomers (PubMed:27452402). Homodimer (By similarity). Interacts with the chaperone complex consisting of HSC70 and SGTA (By similarity). Interacts with ZDHHC13 (via ANK repeats) (By similarity). Interacts with ZDHHC17 (via ANK repeats) (PubMed:28882895). Interacts with SYT1, SYT5 and SYT7, and with SYT9, forming a complex with SNAP25 (By similarity).By similarity2 Publications

Protein-protein interaction databases

BioGridi123242, 24 interactors
IntActiQ9H3Z4, 1 interactor
STRINGi9606.ENSP00000354111

Structurei

Secondary structure

1198
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi7 – 10Combined sources4
Helixi13 – 15Combined sources3
Helixi16 – 20Combined sources5
Beta strandi23 – 26Combined sources4
Helixi30 – 42Combined sources13
Turni44 – 46Combined sources3
Helixi51 – 66Combined sources16
Helixi70 – 76Combined sources7
Helixi81 – 87Combined sources7
Turni88 – 90Combined sources3
Turni92 – 98Combined sources7

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2N04NMR-A1-100[»]
2N05NMR-A1-100[»]
ProteinModelPortaliQ9H3Z4
SMRiQ9H3Z4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini13 – 82JPROSITE-ProRule annotationAdd BLAST70

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi118 – 128Poly-CysAdd BLAST11

Phylogenomic databases

eggNOGiKOG0716 Eukaryota
COG0484 LUCA
GeneTreeiENSGT00910000144120
HOGENOMiHOG000231969
HOVERGENiHBG005414
InParanoidiQ9H3Z4
KOiK09525
OMAiGHYSYHT
OrthoDBiEOG091G0QJP
PhylomeDBiQ9H3Z4
TreeFamiTF105164

Family and domain databases

CDDicd06257 DnaJ, 1 hit
Gene3Di1.10.287.110, 1 hit
InterProiView protein in InterPro
IPR001623 DnaJ_domain
IPR018253 DnaJ_domain_CS
IPR036869 J_dom_sf
PfamiView protein in Pfam
PF00226 DnaJ, 1 hit
PRINTSiPR00625 JDOMAIN
SMARTiView protein in SMART
SM00271 DnaJ, 1 hit
SUPFAMiSSF46565 SSF46565, 1 hit
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

Isoform 1 (identifier: Q9H3Z4-1) [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
MADQRQRSLS TSGESLYHVL GLDKNATSDD IKKSYRKLAL KYHPDKNPDN
60 70 80 90 100
PEAADKFKEI NNAHAILTDA TKRNIYDKYG SLGLYVAEQF GEENVNTYFV
110 120 130 140 150
LSSWWAKALF VFCGLLTCCY CCCCLCCCFN CCCGKCKPKA PEGEETEFYV
160 170 180 190
SPEDLEAQLQ SDEREATDTP IVIQPASATE TTQLTADSHP SYHTDGFN
Length:198
Mass (Da):22,149
Last modified:March 1, 2001 - v1
Checksum:iA3F89270EBAD8A25
GO
Isoform 2 (identifier: Q9H3Z4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     165-198: EATDTPIVIQPASATETTQLTADSHPSYHTDGFN → GGH

Note: No experimental confirmation available.
Show »
Length:167
Mass (Da):18,801
Checksum:i568E1ACE72012AC0
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066555115L → R in CLN4B; results in near absence of palmitoylated monomeric forms of the protein and formation of high molecular mass aggregates with diffuse intracellular localization. 5 PublicationsCorresponds to variant dbSNP:rs387907043EnsemblClinVar.1
Natural variantiVAR_066556116Missing in CLN4B; results in near absence of palmitoylated monomeric forms of the protein and formation of high molecular mass aggregates with diffuse intracellular localization. 4 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_001292165 – 198EATDT…TDGFN → GGH in isoform 2. 1 PublicationAdd BLAST34

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL118506 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75191.1
CH471077 Genomic DNA Translation: EAW75192.1
BC053642 mRNA Translation: AAH53642.1
AK024508 mRNA Translation: BAB15798.1
AK128776 mRNA Translation: BAG54730.1
AK289585 mRNA Translation: BAF82274.1
CCDSiCCDS13546.1 [Q9H3Z4-1]
PIRiS70515
RefSeqiNP_079495.1, NM_025219.2 [Q9H3Z4-1]
XP_011527350.1, XM_011529048.2 [Q9H3Z4-1]
XP_011527351.1, XM_011529049.1 [Q9H3Z4-1]
UniGeneiHs.164419

Genome annotation databases

EnsembliENST00000360864; ENSP00000354111; ENSG00000101152 [Q9H3Z4-1]
ENST00000470551; ENSP00000434744; ENSG00000101152 [Q9H3Z4-2]
GeneIDi80331
KEGGihsa:80331
UCSCiuc002yhf.4 human [Q9H3Z4-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiDNJC5_HUMAN
AccessioniPrimary (citable) accession number: Q9H3Z4
Secondary accession number(s): A8K0M0
, B3KY68, E1P5G8, Q9H3Z5, Q9H7H2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 14, 2001
Last sequence update: March 1, 2001
Last modified: May 23, 2018
This is version 159 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

3D-structure, Complete proteome, Reference proteome

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