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Protein

Putative tyrosine-protein phosphatase auxilin

Gene

DNAJC6

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

Functioni

Recruits HSPA8/HSC70 to clathrin-coated vesicles and promotes uncoating of clathrin-coated vesicles. Plays a role in clathrin-mediated endocytosis in neurons (By similarity).By similarity

Catalytic activityi

Protein tyrosine phosphate + H2O = protein tyrosine + phosphate.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei164Phosphocysteine intermediatePROSITE-ProRule annotation1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionChaperone, Hydrolase, Protein phosphatase

Enzyme and pathway databases

ReactomeiR-HSA-432720 Lysosome Vesicle Biogenesis
R-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-8856828 Clathrin-mediated endocytosis

Names & Taxonomyi

Protein namesi
Recommended name:
Putative tyrosine-protein phosphatase auxilinCurated (EC:3.1.3.48)
Alternative name(s):
DnaJ homolog subfamily C member 6Imported
Gene namesi
Name:DNAJC6Imported
Synonyms:KIAA0473Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000116675.15
HGNCiHGNC:15469 DNAJC6
MIMi608375 gene
neXtProtiNX_O75061

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

Pathology & Biotechi

Involvement in diseasei

Parkinson disease 19A, juvenile-onset (PARK19A)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA juvenile form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK19A is characterized by onset of parkinsonian symptoms in the first or second decade of life. Some patients may have additional neurologic features, including mental retardation and seizures.
See also OMIM:615528
Parkinson disease 19B, early-onset (PARK19B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn early-onset form of Parkinson disease, a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. PARK19B is characterized by symptoms onset in the third-to-fifth decade, slow disease progression, and prominent. response to dopaminergic therapies. Inheritance is autosomal recessive.
See also OMIM:615528
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077929870R → G in PARK19B; patient fibroblasts show decreased levels of the protein. 1 PublicationCorresponds to variant dbSNP:rs879255630Ensembl.1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Parkinson disease, Parkinsonism

Organism-specific databases

DisGeNETi9829
MalaCardsiDNAJC6
MIMi615528 phenotype
OpenTargetsiENSG00000116675
Orphaneti391411 Atypical juvenile parkinsonism
PharmGKBiPA27423

Polymorphism and mutation databases

BioMutaiDNAJC6

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002445161 – 913Putative tyrosine-protein phosphatase auxilinAdd BLAST913

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei112PhosphoserineCombined sources1
Modified residuei453PhosphoserineBy similarity1
Modified residuei456PhosphoserineBy similarity1
Modified residuei563PhosphoserineCombined sources1
Modified residuei570PhosphoserineCombined sources1
Isoform 3 (identifier: O75061-3)
Modified residuei1N-acetylmethionineCombined sources1
Isoform 4 (identifier: O75061-4)
Modified residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO75061
MaxQBiO75061
PaxDbiO75061
PeptideAtlasiO75061
PRIDEiO75061
ProteomicsDBi49731
49732 [O75061-2]
49733 [O75061-3]

PTM databases

DEPODiO75061
iPTMnetiO75061
PhosphoSitePlusiO75061

Expressioni

Tissue specificityi

Expressed in various brain regions, including cerebellum, corpus callosum, cortex, striatum, brainstem, pons, putamen, spinal cord and substantia nigra. Very low expression in non-neural tissues such as leukocytes, liver, adipose tissue, skeletal muscle and bone marrow.1 Publication

Gene expression databases

BgeeiENSG00000116675 Expressed in 162 organ(s), highest expression level in endothelial cell
CleanExiHS_DNAJC6
ExpressionAtlasiO75061 baseline and differential
GenevisibleiO75061 HS

Organism-specific databases

HPAiHPA031182
HPA054917

Interactioni

Subunit structurei

Interacts with HSPA8/HSC70. Interacts with CLTC. Interacts with AP2A2 (By similarity).By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115167, 21 interactors
IntActiO75061, 6 interactors
MINTiO75061
STRINGi9606.ENSP00000378735

Structurei

3D structure databases

ProteinModelPortaliO75061
SMRiO75061
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati36 – 3914
Repeati40 – 4324
Repeati44 – 4734
Domaini55 – 222Phosphatase tensin-typePROSITE-ProRule annotationAdd BLAST168
Domaini228 – 366C2 tensin-typePROSITE-ProRule annotationAdd BLAST139
Domaini849 – 913JPROSITE-ProRule annotationAdd BLAST65

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni36 – 473 X 4 AA approximate tandem repeatsAdd BLAST12

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi409 – 417SH3-bindingSequence analysis9

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi466 – 760Pro-richAdd BLAST295
Compositional biasi529 – 532Poly-Gly4

Keywords - Domaini

Repeat, SH3-binding

Phylogenomic databases

eggNOGiKOG0431 Eukaryota
KOG2283 Eukaryota
ENOG41129H2 LUCA
GeneTreeiENSGT00760000119113
HOGENOMiHOG000034235
HOVERGENiHBG004322
InParanoidiO75061
KOiK09526
OMAiLCWQDQK
OrthoDBiEOG091G06HJ
PhylomeDBiO75061
TreeFamiTF105165

Family and domain databases

CDDicd06257 DnaJ, 1 hit
Gene3Di1.10.287.110, 1 hit
3.90.190.10, 1 hit
InterProiView protein in InterPro
IPR001623 DnaJ_domain
IPR036869 J_dom_sf
IPR029021 Prot-tyrosine_phosphatase-like
IPR014020 Tensin_C2-dom
IPR029023 Tensin_phosphatase
PfamiView protein in Pfam
PF00226 DnaJ, 1 hit
PF10409 PTEN_C2, 1 hit
SMARTiView protein in SMART
SM00271 DnaJ, 1 hit
SM01326 PTEN_C2, 1 hit
SUPFAMiSSF46565 SSF46565, 1 hit
SSF52799 SSF52799, 1 hit
PROSITEiView protein in PROSITE
PS51182 C2_TENSIN, 1 hit
PS50076 DNAJ_2, 1 hit
PS51181 PPASE_TENSIN, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: O75061-1) [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
MKDSENKGAS SPDMEPSYGG GLFDMVKGGA GRLFSNLKDN LKDTLKDTSS
60 70 80 90 100
RVIQSVTSYT KGDLDFTYVT SRIIVMSFPL DNVDIGFRNQ VDDIRSFLDS
110 120 130 140 150
RHLDHYTVYN LSPKSYRTAK FHSRVSECSW PIRQAPSLHN LFAVCRNMYN
160 170 180 190 200
WLLQNPKNVC VVHCLDGRAA SSILVGAMFI FCNLYSTPGP AIRLLYAKRP
210 220 230 240 250
GIGLSPSHRR YLGYMCDLLA DKPYRPHFKP LTIKSITVSP IPFFNKQRNG
260 270 280 290 300
CRPYCDVLIG ETKIYSTCTD FERMKEYRVQ DGKIFIPLNI TVQGDVVVSM
310 320 330 340 350
YHLRSTIGSR LQAKVTNTQI FQLQFHTGFI PLDTTVLKFT KPELDACDVP
360 370 380 390 400
EKYPQLFQVT LDVELQPHDK VIDLTPPWEH YCTKDVNPSI LFSSHQEHQD
410 420 430 440 450
TLALGGQAPI DIPPDNPRHY GQSGFFASLC WQDQKSEKSF CEEDHAALVN
460 470 480 490 500
QESEQSDDEL LTLSSPHGNA NGDKPHGVKK PSKKQQEPAA PPPPEDVDLL
510 520 530 540 550
GLEGSAMSNS FSPPAAPPTN SELLSDLFGG GGAAGPTQAG QSGVEDVFHP
560 570 580 590 600
SGPASTQSTP RRSATSTSAS PTLRVGEGAT FDPFGAPSKP SGQDLLGSFL
610 620 630 640 650
NTSSASSDPF LQPTRSPSPT VHASSTPAVN IQPDVSGGWD WHAKPGGFGM
660 670 680 690 700
GSKSAATSPT GSSHGTPTHQ SKPQTLDPFA DLGTLGSSSF ASKPTTPTGL
710 720 730 740 750
GGGFPPLSSP QKASPQPMGG GWQQGGAYNW QQPQPKPQPS MPHSSPQNRP
760 770 780 790 800
NYNVSFSAMP GGQNERGKGS SNLEGKQKAA DFEDLLSGQG FNAHKDKKGP
810 820 830 840 850
RTIAEMRKEE MAKEMDPEKL KILEWIEGKE RNIRALLSTM HTVLWAGETK
860 870 880 890 900
WKPVGMADLV TPEQVKKVYR KAVLVVHPDK ATGQPYEQYA KMIFMELNDA
910
WSEFENQGQK PLY
Length:913
Mass (Da):99,997
Last modified:June 27, 2006 - v3
Checksum:i7B7187AAC8ADF2E4
GO
Isoform 2 (identifier: O75061-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-7: MKDSENK → MSLLGSYRKKTSNDGYESLQLVDSNGDLSAGSGGVGGKQRVNAGAAARSPARQPPDRASTMDSS

Show »
Length:970
Mass (Da):105,675
Checksum:iC976C4BB3072DCC7
GO
Isoform 3 (identifier: O75061-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: Missing.
     456-913: Missing.

Show »
Length:442
Mass (Da):50,302
Checksum:i5E7AB1E840DADD6A
GO
Isoform 4 (identifier: O75061-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-13: Missing.

Note: No experimental confirmation available.Combined sources
Show »
Length:900
Mass (Da):98,649
Checksum:i6FD4AB1358FF52E9
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
S4R305S4R305_HUMAN
Putative tyrosine-protein phosphata...
DNAJC6
516Annotation score:

Sequence cautioni

The sequence BAA32318 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti178M → V in BAH12344 (PubMed:14702039).Curated1
Sequence conflicti425F → S in AAH51722 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07792476M → L1 PublicationCorresponds to variant dbSNP:rs61757223Ensembl.1
Natural variantiVAR_077925152L → P1 Publication1
Natural variantiVAR_077926264I → V1 Publication1
Natural variantiVAR_077927441C → S1 PublicationCorresponds to variant dbSNP:rs145329294Ensembl.1
Natural variantiVAR_077928562R → C1 PublicationCorresponds to variant dbSNP:rs770127313Ensembl.1
Natural variantiVAR_026908671S → N. Corresponds to variant dbSNP:rs4915691Ensembl.1
Natural variantiVAR_077929870R → G in PARK19B; patient fibroblasts show decreased levels of the protein. 1 PublicationCorresponds to variant dbSNP:rs879255630Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0195791 – 13Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST13
Alternative sequenceiVSP_0195801 – 7MKDSENK → MSLLGSYRKKTSNDGYESLQ LVDSNGDLSAGSGGVGGKQR VNAGAAARSPARQPPDRAST MDSS in isoform 2. 1 Publication7
Alternative sequenceiVSP_019581456 – 913Missing in isoform 3. 1 PublicationAdd BLAST458

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB007942 mRNA Translation: BAA32318.2 Different initiation.
AK296408 mRNA Translation: BAH12344.1
AC119800 Genomic DNA No translation available.
AL139294 Genomic DNA No translation available.
AL355487 Genomic DNA No translation available.
AL356212 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX06533.1
CH471059 Genomic DNA Translation: EAX06534.1
CH471059 Genomic DNA Translation: EAX06536.1
CH471059 Genomic DNA Translation: EAX06537.1
BC051722 mRNA Translation: AAH51722.1
BC109279 mRNA Translation: AAI09280.2
BC109280 mRNA Translation: AAI09281.2
CCDSiCCDS30739.1 [O75061-1]
CCDS58004.1 [O75061-2]
CCDS58005.1 [O75061-4]
RefSeqiNP_001243793.1, NM_001256864.1 [O75061-2]
NP_001243794.1, NM_001256865.1 [O75061-4]
NP_055602.1, NM_014787.3 [O75061-1]
UniGeneiHs.647643

Genome annotation databases

EnsembliENST00000263441; ENSP00000263441; ENSG00000116675 [O75061-4]
ENST00000371069; ENSP00000360108; ENSG00000116675 [O75061-2]
ENST00000395325; ENSP00000378735; ENSG00000116675 [O75061-1]
GeneIDi9829
KEGGihsa:9829
UCSCiuc001dcd.3 human [O75061-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB007942 mRNA Translation: BAA32318.2 Different initiation.
AK296408 mRNA Translation: BAH12344.1
AC119800 Genomic DNA No translation available.
AL139294 Genomic DNA No translation available.
AL355487 Genomic DNA No translation available.
AL356212 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX06533.1
CH471059 Genomic DNA Translation: EAX06534.1
CH471059 Genomic DNA Translation: EAX06536.1
CH471059 Genomic DNA Translation: EAX06537.1
BC051722 mRNA Translation: AAH51722.1
BC109279 mRNA Translation: AAI09280.2
BC109280 mRNA Translation: AAI09281.2
CCDSiCCDS30739.1 [O75061-1]
CCDS58004.1 [O75061-2]
CCDS58005.1 [O75061-4]
RefSeqiNP_001243793.1, NM_001256864.1 [O75061-2]
NP_001243794.1, NM_001256865.1 [O75061-4]
NP_055602.1, NM_014787.3 [O75061-1]
UniGeneiHs.647643

3D structure databases

ProteinModelPortaliO75061
SMRiO75061
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115167, 21 interactors
IntActiO75061, 6 interactors
MINTiO75061
STRINGi9606.ENSP00000378735

PTM databases

DEPODiO75061
iPTMnetiO75061
PhosphoSitePlusiO75061

Polymorphism and mutation databases

BioMutaiDNAJC6

Proteomic databases

EPDiO75061
MaxQBiO75061
PaxDbiO75061
PeptideAtlasiO75061
PRIDEiO75061
ProteomicsDBi49731
49732 [O75061-2]
49733 [O75061-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263441; ENSP00000263441; ENSG00000116675 [O75061-4]
ENST00000371069; ENSP00000360108; ENSG00000116675 [O75061-2]
ENST00000395325; ENSP00000378735; ENSG00000116675 [O75061-1]
GeneIDi9829
KEGGihsa:9829
UCSCiuc001dcd.3 human [O75061-1]

Organism-specific databases

CTDi9829
DisGeNETi9829
EuPathDBiHostDB:ENSG00000116675.15
GeneCardsiDNAJC6
HGNCiHGNC:15469 DNAJC6
HPAiHPA031182
HPA054917
MalaCardsiDNAJC6
MIMi608375 gene
615528 phenotype
neXtProtiNX_O75061
OpenTargetsiENSG00000116675
Orphaneti391411 Atypical juvenile parkinsonism
PharmGKBiPA27423
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0431 Eukaryota
KOG2283 Eukaryota
ENOG41129H2 LUCA
GeneTreeiENSGT00760000119113
HOGENOMiHOG000034235
HOVERGENiHBG004322
InParanoidiO75061
KOiK09526
OMAiLCWQDQK
OrthoDBiEOG091G06HJ
PhylomeDBiO75061
TreeFamiTF105165

Enzyme and pathway databases

ReactomeiR-HSA-432720 Lysosome Vesicle Biogenesis
R-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-8856828 Clathrin-mediated endocytosis

Miscellaneous databases

ChiTaRSiDNAJC6 human
GeneWikiiAuxilin
GenomeRNAii9829
PROiPR:O75061
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000116675 Expressed in 162 organ(s), highest expression level in endothelial cell
CleanExiHS_DNAJC6
ExpressionAtlasiO75061 baseline and differential
GenevisibleiO75061 HS

Family and domain databases

CDDicd06257 DnaJ, 1 hit
Gene3Di1.10.287.110, 1 hit
3.90.190.10, 1 hit
InterProiView protein in InterPro
IPR001623 DnaJ_domain
IPR036869 J_dom_sf
IPR029021 Prot-tyrosine_phosphatase-like
IPR014020 Tensin_C2-dom
IPR029023 Tensin_phosphatase
PfamiView protein in Pfam
PF00226 DnaJ, 1 hit
PF10409 PTEN_C2, 1 hit
SMARTiView protein in SMART
SM00271 DnaJ, 1 hit
SM01326 PTEN_C2, 1 hit
SUPFAMiSSF46565 SSF46565, 1 hit
SSF52799 SSF52799, 1 hit
PROSITEiView protein in PROSITE
PS51182 C2_TENSIN, 1 hit
PS50076 DNAJ_2, 1 hit
PS51181 PPASE_TENSIN, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiAUXI_HUMAN
AccessioniPrimary (citable) accession number: O75061
Secondary accession number(s): B7Z3V8
, D3DQ65, D3DQ66, Q32M66, Q4G0K1, Q5T614, Q5T615
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: June 27, 2006
Last modified: October 10, 2018
This is version 156 of the entry and version 3 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 chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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