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Protein

DnaJ homolog subfamily C member 5

Gene

DNAJC5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May have an important role in presynaptic function. May be involved in calcium-dependent neurotransmitter release at nerve endings (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

  • exocytosis Source: ParkinsonsUK-UCL
  • negative regulation of neuron apoptotic process Source: Ensembl
  • neurotransmitter secretion Source: Reactome
  • regulated exocytosis Source: ParkinsonsUK-UCL
  • synaptic vesicle exocytosis Source: ParkinsonsUK-UCL
Complete GO annotation...

Keywords - Molecular functioni

Chaperone

Enzyme and pathway databases

BioCyciZFISH:ENSG00000101152-MONOMER.
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

HGNCiHGNC:16235. DNAJC5.

Subcellular locationi

GO - Cellular componenti

  • clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane Source: Reactome
  • extracellular exosome Source: UniProtKB
  • lysosomal membrane Source: UniProtKB
  • melanosome Source: UniProtKB-SubCell
  • membrane Source: UniProtKB
  • mitochondrion Source: UniProtKB
  • plasma membrane Source: UniProtKB
  • synaptic vesicle Source: Ensembl
  • terminal bouton Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Ceroid lipofuscinosis, neuronal, 4B (CLN4B)4 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 rs387907043dbSNPEnsembl.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

Keywords - Diseasei

Disease mutation, Neurodegeneration, Neuronal ceroid lipofuscinosis

Organism-specific databases

DisGeNETi80331.
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 sources1 Publication1
Modified residuei12PhosphoserineCombined sources1
Modified residuei15PhosphoserineCombined sources1
Modified residuei17PhosphotyrosineCombined sources1
Modified residuei56N6-acetyllysineCombined sources1
Modified residuei151PhosphoserineBy similarity1

Post-translational modificationi

Fatty acylated. Heavily palmitoylated in the cysteine string motif (By similarity).By similarity

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

Homodimer. Interacts with the chaperone complex consisting of HSC70 and SGTA. Interacts with ZDHHC13 (via ANK repeats). Interacts with ZDHHC17 (via ANK repeats).By similarity

Protein-protein interaction databases

BioGridi123242. 7 interactors.
IntActiQ9H3Z4. 1 interactor.
MINTiMINT-5000726.
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

Sequence similaritiesi

Contains 1 J domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG0716. Eukaryota.
COG0484. LUCA.
GeneTreeiENSGT00760000118947.
HOGENOMiHOG000231969.
HOVERGENiHBG005414.
InParanoidiQ9H3Z4.
KOiK09525.
OMAiCGRCKPR.
OrthoDBiEOG091G0QJP.
PhylomeDBiQ9H3Z4.
TreeFamiTF105164.

Family and domain databases

CDDicd06257. DnaJ. 1 hit.
Gene3Di1.10.287.110. 1 hit.
InterProiIPR001623. DnaJ_domain.
IPR018253. DnaJ_domain_CS.
[Graphical view]
PfamiPF00226. DnaJ. 1 hit.
[Graphical view]
PRINTSiPR00625. JDOMAIN.
SMARTiSM00271. DnaJ. 1 hit.
[Graphical view]
SUPFAMiSSF46565. SSF46565. 1 hit.
PROSITEiPS00636. DNAJ_1. 1 hit.
PS50076. DNAJ_2. 1 hit.
[Graphical view]

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 rs387907043dbSNPEnsembl.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. Translation: CAC15495.1.
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

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL118506 Genomic DNA. Translation: CAC15495.1.
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.

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...

Protein-protein interaction databases

BioGridi123242. 7 interactors.
IntActiQ9H3Z4. 1 interactor.
MINTiMINT-5000726.
STRINGi9606.ENSP00000354111.

PTM databases

iPTMnetiQ9H3Z4.
PhosphoSitePlusiQ9H3Z4.
SwissPalmiQ9H3Z4.

Polymorphism and mutation databases

BioMutaiDNAJC5.
DMDMi15213953.

Proteomic databases

EPDiQ9H3Z4.
MaxQBiQ9H3Z4.
PaxDbiQ9H3Z4.
PeptideAtlasiQ9H3Z4.
PRIDEiQ9H3Z4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi80331.
DisGeNETi80331.
GeneCardsiDNAJC5.
GeneReviewsiDNAJC5.
HGNCiHGNC:16235. DNAJC5.
HPAiHPA012737.
HPA013154.
MalaCardsiDNAJC5.
MIMi162350. phenotype.
611203. gene.
neXtProtiNX_Q9H3Z4.
OpenTargetsiENSG00000101152.
Orphaneti228343. CLN4B disease.
PharmGKBiPA27422.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0716. Eukaryota.
COG0484. LUCA.
GeneTreeiENSGT00760000118947.
HOGENOMiHOG000231969.
HOVERGENiHBG005414.
InParanoidiQ9H3Z4.
KOiK09525.
OMAiCGRCKPR.
OrthoDBiEOG091G0QJP.
PhylomeDBiQ9H3Z4.
TreeFamiTF105164.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000101152-MONOMER.
ReactomeiR-HSA-6798695. Neutrophil degranulation.
R-HSA-888590. GABA synthesis, release, reuptake and degradation.
SIGNORiQ9H3Z4.

Miscellaneous databases

ChiTaRSiDNAJC5. human.
GeneWikiiDNAJC5.
GenomeRNAii80331.
PROiQ9H3Z4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000101152.
CleanExiHS_DNAJC5.
GenevisibleiQ9H3Z4. HS.

Family and domain databases

CDDicd06257. DnaJ. 1 hit.
Gene3Di1.10.287.110. 1 hit.
InterProiIPR001623. DnaJ_domain.
IPR018253. DnaJ_domain_CS.
[Graphical view]
PfamiPF00226. DnaJ. 1 hit.
[Graphical view]
PRINTSiPR00625. JDOMAIN.
SMARTiSM00271. DnaJ. 1 hit.
[Graphical view]
SUPFAMiSSF46565. SSF46565. 1 hit.
PROSITEiPS00636. DNAJ_1. 1 hit.
PS50076. DNAJ_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDNJC5_HUMAN
AccessioniPrimary (citable) accession number: Q9H3Z4
Secondary accession number(s): A8K0M0
, B3KY68, E1P5G8, Q9H3Z5, Q9H7H2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 14, 2001
Last sequence update: March 1, 2001
Last modified: November 30, 2016
This is version 147 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.