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Q96LL9

- DJC30_HUMAN

UniProt

Q96LL9 - DJC30_HUMAN

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Protein
DnaJ homolog subfamily C member 30
Gene
DNAJC30, WBSCR18
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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 30
PRO_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

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.

Miscellaneous databases

EvolutionaryTraceiQ96LL9.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini49 – 11466J
Add
BLAST

Sequence similaritiesi

Contains 1 J domain.

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.
ENST00000574873; ENSP00000460342; ENSG00000261940.
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 .
ENST00000574873 ; ENSP00000460342 ; ENSG00000261940 .
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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 102 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

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