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O75061

- AUXI_HUMAN

UniProt

O75061 - AUXI_HUMAN

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Protein

Putative tyrosine-protein phosphatase auxilin

Gene

DNAJC6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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)LengthDescriptionGraphical viewFeature identifierActions
Active sitei164 – 1641Phosphocysteine intermediatePROSITE-ProRule annotation

GO - Molecular functioni

  1. protein tyrosine phosphatase activity Source: UniProtKB-EC

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. clathrin coat disassembly Source: Ensembl
  3. membrane organization Source: Reactome
  4. post-Golgi vesicle-mediated transport Source: Reactome
  5. regulation of clathrin-mediated endocytosis Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Chaperone, Hydrolase, Protein phosphatase

Enzyme and pathway databases

ReactomeiREACT_19287. Lysosome Vesicle Biogenesis.
REACT_19400. Golgi Associated Vesicle Biogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Putative tyrosine-protein phosphatase auxilin (EC:3.1.3.48)
Alternative name(s):
DnaJ homolog subfamily C member 6
Gene namesi
Name:DNAJC6
Synonyms:KIAA0473
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:15469. DNAJC6.

Subcellular locationi

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. synapse Source: Ensembl
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Parkinson disease 19, juvenile-onset (PARK19) [MIM:615528]: A 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. PARK19 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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Neurodegeneration, Parkinson disease, Parkinsonism

Organism-specific databases

MIMi615528. phenotype.
Orphaneti391411. Atypical juvenile parkinsonism.
PharmGKBiPA27423.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 913913Putative tyrosine-protein phosphatase auxilinPRO_0000244516Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei563 – 5631Phosphoserine1 Publication
Modified residuei570 – 5701Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO75061.
PaxDbiO75061.
PRIDEiO75061.

PTM databases

PhosphoSiteiO75061.

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

BgeeiO75061.
CleanExiHS_DNAJC6.
ExpressionAtlasiO75061. baseline and differential.
GenevestigatoriO75061.

Organism-specific databases

HPAiHPA031182.
HPA054917.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi115167. 2 interactions.
IntActiO75061. 1 interaction.
MINTiMINT-2797206.
STRINGi9606.ENSP00000378735.

Structurei

3D structure databases

ProteinModelPortaliO75061.
SMRiO75061. Positions 56-402, 733-913.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati36 – 3941
Repeati40 – 4342
Repeati44 – 4743
Domaini55 – 222168Phosphatase tensin-typePROSITE-ProRule annotationAdd
BLAST
Domaini228 – 366139C2 tensin-typePROSITE-ProRule annotationAdd
BLAST
Domaini849 – 91365JPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni36 – 47123 X 4 AA approximate tandem repeatsAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi409 – 4179SH3-bindingSequence Analysis

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi466 – 760295Pro-richAdd
BLAST
Compositional biasi529 – 5324Poly-Gly

Sequence similaritiesi

Contains 1 C2 tensin-type domain.PROSITE-ProRule annotation
Contains 1 J domain.PROSITE-ProRule annotation
Contains 1 phosphatase tensin-type domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, SH3-binding

Phylogenomic databases

eggNOGiNOG269956.
GeneTreeiENSGT00760000119113.
HOGENOMiHOG000034235.
HOVERGENiHBG004322.
InParanoidiO75061.
KOiK09526.
OMAiLCWQDQK.
OrthoDBiEOG7WT40V.
PhylomeDBiO75061.
TreeFamiTF105165.

Family and domain databases

Gene3Di1.10.287.110. 1 hit.
3.90.190.10. 1 hit.
InterProiIPR000008. C2_dom.
IPR001623. DnaJ_domain.
IPR029021. Prot-tyrosine_phosphatase-like.
IPR014020. Tensin_C2-dom.
IPR029023. Tensin_lipid_phosphatase_dom.
[Graphical view]
PfamiPF00226. DnaJ. 1 hit.
PF10409. PTEN_C2. 1 hit.
[Graphical view]
SMARTiSM00271. DnaJ. 1 hit.
[Graphical view]
SUPFAMiSSF46565. SSF46565. 1 hit.
SSF49562. SSF49562. 1 hit.
SSF52799. SSF52799. 1 hit.
PROSITEiPS51182. C2_TENSIN. 1 hit.
PS50076. DNAJ_2. 1 hit.
PS51181. PPASE_TENSIN. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

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.

Show »
Length:900
Mass (Da):98,649
Checksum:i6FD4AB1358FF52E9
GO

Sequence cautioni

The sequence BAA32318.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti178 – 1781M → V in BAH12344. (PubMed:14702039)Curated
Sequence conflicti425 – 4251F → S in AAH51722. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti671 – 6711S → N.
Corresponds to variant rs4915691 [ dbSNP | Ensembl ].
VAR_026908

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1313Missing in isoform 3 and isoform 4. 2 PublicationsVSP_019579Add
BLAST
Alternative sequencei1 – 77MKDSENK → MSLLGSYRKKTSNDGYESLQ LVDSNGDLSAGSGGVGGKQR VNAGAAARSPARQPPDRAST MDSS in isoform 2. 1 PublicationVSP_019580
Alternative sequencei456 – 913458Missing in isoform 3. 1 PublicationVSP_019581Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB007942 mRNA. Translation: BAA32318.2. Different initiation.
AK296408 mRNA. Translation: BAH12344.1.
AL139294, AL355487, AC119800 Genomic DNA. Translation: CAI18997.1.
AL139294, AL355487, AC119800 Genomic DNA. Translation: CAI18999.1.
AL355487, AC119800, AL139294 Genomic DNA. Translation: CAI23547.1.
AL355487, AC119800, AL139294 Genomic DNA. Translation: CAI23548.1.
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.
UCSCiuc001dcc.1. human. [O75061-1]
uc001dce.2. human. [O75061-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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 .
AL139294 , AL355487 , AC119800 Genomic DNA. Translation: CAI18997.1 .
AL139294 , AL355487 , AC119800 Genomic DNA. Translation: CAI18999.1 .
AL355487 , AC119800 , AL139294 Genomic DNA. Translation: CAI23547.1 .
AL355487 , AC119800 , AL139294 Genomic DNA. Translation: CAI23548.1 .
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 .
CCDSi CCDS30739.1. [O75061-1 ]
CCDS58004.1. [O75061-2 ]
CCDS58005.1. [O75061-4 ]
RefSeqi NP_001243793.1. NM_001256864.1. [O75061-2 ]
NP_001243794.1. NM_001256865.1. [O75061-4 ]
NP_055602.1. NM_014787.3. [O75061-1 ]
UniGenei Hs.647643.

3D structure databases

ProteinModelPortali O75061.
SMRi O75061. Positions 56-402, 733-913.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115167. 2 interactions.
IntActi O75061. 1 interaction.
MINTi MINT-2797206.
STRINGi 9606.ENSP00000378735.

PTM databases

PhosphoSitei O75061.

Proteomic databases

MaxQBi O75061.
PaxDbi O75061.
PRIDEi O75061.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000263441 ; ENSP00000263441 ; ENSG00000116675 . [O75061-4 ]
ENST00000371069 ; ENSP00000360108 ; ENSG00000116675 . [O75061-2 ]
ENST00000395325 ; ENSP00000378735 ; ENSG00000116675 . [O75061-1 ]
GeneIDi 9829.
KEGGi hsa:9829.
UCSCi uc001dcc.1. human. [O75061-1 ]
uc001dce.2. human. [O75061-2 ]

Organism-specific databases

CTDi 9829.
GeneCardsi GC01P065714.
HGNCi HGNC:15469. DNAJC6.
HPAi HPA031182.
HPA054917.
MIMi 608375. gene.
615528. phenotype.
neXtProti NX_O75061.
Orphaneti 391411. Atypical juvenile parkinsonism.
PharmGKBi PA27423.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG269956.
GeneTreei ENSGT00760000119113.
HOGENOMi HOG000034235.
HOVERGENi HBG004322.
InParanoidi O75061.
KOi K09526.
OMAi LCWQDQK.
OrthoDBi EOG7WT40V.
PhylomeDBi O75061.
TreeFami TF105165.

Enzyme and pathway databases

Reactomei REACT_19287. Lysosome Vesicle Biogenesis.
REACT_19400. Golgi Associated Vesicle Biogenesis.

Miscellaneous databases

ChiTaRSi DNAJC6. human.
GeneWikii Auxilin.
GenomeRNAii 9829.
NextBioi 37030.
PROi O75061.
SOURCEi Search...

Gene expression databases

Bgeei O75061.
CleanExi HS_DNAJC6.
ExpressionAtlasi O75061. baseline and differential.
Genevestigatori O75061.

Family and domain databases

Gene3Di 1.10.287.110. 1 hit.
3.90.190.10. 1 hit.
InterProi IPR000008. C2_dom.
IPR001623. DnaJ_domain.
IPR029021. Prot-tyrosine_phosphatase-like.
IPR014020. Tensin_C2-dom.
IPR029023. Tensin_lipid_phosphatase_dom.
[Graphical view ]
Pfami PF00226. DnaJ. 1 hit.
PF10409. PTEN_C2. 1 hit.
[Graphical view ]
SMARTi SM00271. DnaJ. 1 hit.
[Graphical view ]
SUPFAMi SSF46565. SSF46565. 1 hit.
SSF49562. SSF49562. 1 hit.
SSF52799. SSF52799. 1 hit.
PROSITEi PS51182. C2_TENSIN. 1 hit.
PS50076. DNAJ_2. 1 hit.
PS51181. PPASE_TENSIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of cDNA clones in size-fractionated cDNA libraries from human brain."
    Seki N., Ohira M., Nagase T., Ishikawa K., Miyajima N., Nakajima D., Nomura N., Ohara O.
    DNA Res. 4:345-349(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
    Tissue: Thalamus.
  3. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
    Tissue: Brain.
  6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-563 AND SER-570, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism."
    Edvardson S., Cinnamon Y., Ta-Shma A., Shaag A., Yim Y.I., Zenvirt S., Jalas C., Lesage S., Brice A., Taraboulos A., Kaestner K.H., Greene L.E., Elpeleg O.
    PLoS ONE 7:E36458-E36458(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN PARK19.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability."
    Koroglu C., Baysal L., Cetinkaya M., Karasoy H., Tolun A.
    Parkinsonism Relat. Disord. 19:320-324(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY, INVOLVEMENT IN PARK19.

Entry informationi

Entry nameiAUXI_HUMAN
AccessioniPrimary (citable) accession number: O75061
Secondary accession number(s): B7Z3V8
, D3DQ65, D3DQ66, Q32M66, Q4G0K1, Q5T614, Q5T615
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: June 27, 2006
Last modified: November 26, 2014
This is version 121 of the entry and version 3 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3