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O75061

- AUXI_HUMAN

UniProt

O75061 - AUXI_HUMAN

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
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    • History
      Entry version 119 (01 Oct 2014)
      Sequence version 3 (27 Jun 2006)
      Previous versions | rss
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    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. membrane organization Source: Reactome
    3. post-Golgi vesicle-mediated transport Source: Reactome

    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

    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.
    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.
    HOGENOMiHOG000034235.
    HOVERGENiHBG004322.
    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

    MKDSENKGAS SPDMEPSYGG GLFDMVKGGA GRLFSNLKDN LKDTLKDTSS    50
    RVIQSVTSYT KGDLDFTYVT SRIIVMSFPL DNVDIGFRNQ VDDIRSFLDS 100
    RHLDHYTVYN LSPKSYRTAK FHSRVSECSW PIRQAPSLHN LFAVCRNMYN 150
    WLLQNPKNVC VVHCLDGRAA SSILVGAMFI FCNLYSTPGP AIRLLYAKRP 200
    GIGLSPSHRR YLGYMCDLLA DKPYRPHFKP LTIKSITVSP IPFFNKQRNG 250
    CRPYCDVLIG ETKIYSTCTD FERMKEYRVQ DGKIFIPLNI TVQGDVVVSM 300
    YHLRSTIGSR LQAKVTNTQI FQLQFHTGFI PLDTTVLKFT KPELDACDVP 350
    EKYPQLFQVT LDVELQPHDK VIDLTPPWEH YCTKDVNPSI LFSSHQEHQD 400
    TLALGGQAPI DIPPDNPRHY GQSGFFASLC WQDQKSEKSF CEEDHAALVN 450
    QESEQSDDEL LTLSSPHGNA NGDKPHGVKK PSKKQQEPAA PPPPEDVDLL 500
    GLEGSAMSNS FSPPAAPPTN SELLSDLFGG GGAAGPTQAG QSGVEDVFHP 550
    SGPASTQSTP RRSATSTSAS PTLRVGEGAT FDPFGAPSKP SGQDLLGSFL 600
    NTSSASSDPF LQPTRSPSPT VHASSTPAVN IQPDVSGGWD WHAKPGGFGM 650
    GSKSAATSPT GSSHGTPTHQ SKPQTLDPFA DLGTLGSSSF ASKPTTPTGL 700
    GGGFPPLSSP QKASPQPMGG GWQQGGAYNW QQPQPKPQPS MPHSSPQNRP 750
    NYNVSFSAMP GGQNERGKGS SNLEGKQKAA DFEDLLSGQG FNAHKDKKGP 800
    RTIAEMRKEE MAKEMDPEKL KILEWIEGKE RNIRALLSTM HTVLWAGETK 850
    WKPVGMADLV TPEQVKKVYR KAVLVVHPDK ATGQPYEQYA KMIFMELNDA 900
    WSEFENQGQK PLY 913
    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.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    HOGENOMi HOG000034235.
    HOVERGENi HBG004322.
    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

    GeneWikii Auxilin.
    GenomeRNAii 9829.
    NextBioi 37030.
    PROi O75061.
    SOURCEi Search...

    Gene expression databases

    Bgeei O75061.
    CleanExi HS_DNAJC6.
    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

    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: October 1, 2014
    This is version 119 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