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Q96LL9

- DJC30_HUMAN

UniProt

Q96LL9 - DJC30_HUMAN

Protein

DnaJ homolog subfamily C member 30

Gene

DNAJC30

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 103 (01 Oct 2014)
      Sequence version 3 (19 Oct 2002)
      Previous versions | rss
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    Functioni

    Keywords - Molecular functioni

    Chaperone

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    DnaJ homolog subfamily C member 30
    Alternative name(s):
    Williams-Beuren syndrome chromosomal region 18 protein
    Gene namesi
    Name:DNAJC30
    Synonyms:WBSCR18
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:16410. DNAJC30.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrion Source: Ensembl

    Pathology & Biotechi

    Involvement in diseasei

    DNAJC30 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.

    Keywords - Diseasei

    Williams-Beuren syndrome

    Organism-specific databases

    Orphaneti904. Williams syndrome.
    PharmGKBiPA162383931.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 226226DnaJ homolog subfamily C member 30PRO_0000071137Add
    BLAST

    Proteomic databases

    MaxQBiQ96LL9.
    PaxDbiQ96LL9.
    PRIDEiQ96LL9.

    PTM databases

    PhosphoSiteiQ96LL9.

    Expressioni

    Tissue specificityi

    Expressed in brain, heart, kidney, liver, lung, spleen, stomach and testis.1 Publication

    Gene expression databases

    BgeeiQ96LL9.
    CleanExiHS_DNAJC30.
    GenevestigatoriQ96LL9.

    Organism-specific databases

    HPAiHPA017318.

    Interactioni

    Protein-protein interaction databases

    BioGridi124004. 1 interaction.
    IntActiQ96LL9. 1 interaction.
    STRINGi9606.ENSP00000378605.

    Structurei

    Secondary structure

    1
    226
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi49 – 546
    Helixi62 – 7514
    Turni78 – 803
    Helixi86 – 10015
    Helixi104 – 1118
    Helixi117 – 1215

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2YUANMR-A39-124[»]
    ProteinModelPortaliQ96LL9.
    SMRiQ96LL9. Positions 40-128.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ96LL9.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini49 – 11466JPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 J domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiCOG0484.
    HOGENOMiHOG000112220.
    HOVERGENiHBG062643.
    InParanoidiQ96LL9.
    OMAiRWDETRD.
    OrthoDBiEOG71G9X5.
    PhylomeDBiQ96LL9.
    TreeFamiTF332749.

    Family and domain databases

    Gene3Di1.10.287.110. 1 hit.
    InterProiIPR001623. DnaJ_domain.
    [Graphical view]
    PfamiPF00226. DnaJ. 1 hit.
    [Graphical view]
    PRINTSiPR00625. JDOMAIN.
    SMARTiSM00271. DnaJ. 1 hit.
    [Graphical view]
    SUPFAMiSSF46565. SSF46565. 1 hit.
    PROSITEiPS50076. DNAJ_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q96LL9-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAAMRWRWWQ RLLPWRLLQA RGFPQNSAPS LGLGARTYSQ GDCSYSRTAL    50
    YDLLGVPSTA TQAQIKAAYY RQCFLYHPDR NSGSAEAAER FTRISQAYVV 100
    LGSATLRRKY DRGLLSDEDL RGPGVRPSRT PAPDPGSPRT PPPTSRTHDG 150
    SRASPGANRT MFNFDAFYQA HYGEQLERER RLRARREALR KRQEYRSMKG 200
    LRWEDTRDTA AIFLIFSIFI IIGFYI 226
    Length:226
    Mass (Da):25,961
    Last modified:October 19, 2002 - v3
    Checksum:i8687C2A45790381D
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti34 – 341G → R.1 Publication
    Corresponds to variant rs1128349 [ dbSNP | Ensembl ].
    VAR_024433
    Natural varianti167 – 1671F → L.
    Corresponds to variant rs13244259 [ dbSNP | Ensembl ].
    VAR_048915

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF412025 mRNA. Translation: AAM62307.1.
    AK058113 mRNA. Translation: BAB71671.1.
    AC073846 Genomic DNA. Translation: AAS07471.1.
    BC005056 mRNA. Translation: AAH05056.1.
    CCDSiCCDS5556.1.
    RefSeqiNP_115693.2. NM_032317.2.
    UniGeneiHs.647046.

    Genome annotation databases

    EnsembliENST00000395176; ENSP00000378605; ENSG00000176410.
    GeneIDi84277.
    KEGGihsa:84277.
    UCSCiuc003tys.1. human.

    Polymorphism databases

    DMDMi24212614.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF412025 mRNA. Translation: AAM62307.1 .
    AK058113 mRNA. Translation: BAB71671.1 .
    AC073846 Genomic DNA. Translation: AAS07471.1 .
    BC005056 mRNA. Translation: AAH05056.1 .
    CCDSi CCDS5556.1.
    RefSeqi NP_115693.2. NM_032317.2.
    UniGenei Hs.647046.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2YUA NMR - A 39-124 [» ]
    ProteinModelPortali Q96LL9.
    SMRi Q96LL9. Positions 40-128.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124004. 1 interaction.
    IntActi Q96LL9. 1 interaction.
    STRINGi 9606.ENSP00000378605.

    PTM databases

    PhosphoSitei Q96LL9.

    Polymorphism databases

    DMDMi 24212614.

    Proteomic databases

    MaxQBi Q96LL9.
    PaxDbi Q96LL9.
    PRIDEi Q96LL9.

    Protocols and materials databases

    DNASUi 84277.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000395176 ; ENSP00000378605 ; ENSG00000176410 .
    GeneIDi 84277.
    KEGGi hsa:84277.
    UCSCi uc003tys.1. human.

    Organism-specific databases

    CTDi 84277.
    GeneCardsi GC07M073095.
    HGNCi HGNC:16410. DNAJC30.
    HPAi HPA017318.
    neXtProti NX_Q96LL9.
    Orphaneti 904. Williams syndrome.
    PharmGKBi PA162383931.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0484.
    HOGENOMi HOG000112220.
    HOVERGENi HBG062643.
    InParanoidi Q96LL9.
    OMAi RWDETRD.
    OrthoDBi EOG71G9X5.
    PhylomeDBi Q96LL9.
    TreeFami TF332749.

    Miscellaneous databases

    EvolutionaryTracei Q96LL9.
    GenomeRNAii 84277.
    NextBioi 73858.
    PROi Q96LL9.

    Gene expression databases

    Bgeei Q96LL9.
    CleanExi HS_DNAJC30.
    Genevestigatori Q96LL9.

    Family and domain databases

    Gene3Di 1.10.287.110. 1 hit.
    InterProi IPR001623. DnaJ_domain.
    [Graphical view ]
    Pfami PF00226. DnaJ. 1 hit.
    [Graphical view ]
    PRINTSi PR00625. JDOMAIN.
    SMARTi SM00271. DnaJ. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46565. SSF46565. 1 hit.
    PROSITEi PS50076. DNAJ_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of additional transcripts in the Williams-Beuren syndrome critical region."
      Merla G., Ucla C., Guipponi M., Reymond A.
      Hum. Genet. 110:429-438(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, ROLE IN WILLIAMS-BEUREN SYNDROME.
    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].
      Tissue: Testis.
    3. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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], VARIANT ARG-34.
      Tissue: Lung.
    5. "Solution structure of the DNAJ domain from human Williams-Beuren syndrome chromosome region 18 protein."
      RIKEN structural genomics initiative (RSGI)
      Submitted (OCT-2007) to the PDB data bank
      Cited for: STRUCTURE BY NMR OF 32-128.

    Entry informationi

    Entry nameiDJC30_HUMAN
    AccessioniPrimary (citable) accession number: Q96LL9
    Secondary accession number(s): Q9BSG8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 10, 2002
    Last sequence update: October 19, 2002
    Last modified: October 1, 2014
    This is version 103 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3