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Q96LL9 (DJC30_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 102. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
DnaJ homolog subfamily C member 30
Alternative name(s):
Williams-Beuren syndrome chromosomal region 18 protein
Gene names
Name:DNAJC30
Synonyms:WBSCR18
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length226 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Tissue specificity

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

Involvement in disease

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.

Sequence similarities

Contains 1 J domain.

Ontologies

Keywords
   Coding sequence diversityPolymorphism
   DiseaseWilliams-Beuren syndrome
   Molecular functionChaperone
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentmitochondrion

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 226226DnaJ homolog subfamily C member 30
PRO_0000071137

Regions

Domain49 – 11466J

Natural variations

Natural variant341G → R. Ref.4
Corresponds to variant rs1128349 [ dbSNP | Ensembl ].
VAR_024433
Natural variant1671F → L.
Corresponds to variant rs13244259 [ dbSNP | Ensembl ].
VAR_048915

Secondary structure

............. 226
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Q96LL9 [UniParc].

Last modified October 19, 2002. Version 3.
Checksum: 8687C2A45790381D

FASTA22625,961
        10         20         30         40         50         60 
MAAMRWRWWQ RLLPWRLLQA RGFPQNSAPS LGLGARTYSQ GDCSYSRTAL YDLLGVPSTA 

        70         80         90        100        110        120 
TQAQIKAAYY RQCFLYHPDR NSGSAEAAER FTRISQAYVV LGSATLRRKY DRGLLSDEDL 

       130        140        150        160        170        180 
RGPGVRPSRT PAPDPGSPRT PPPTSRTHDG SRASPGANRT MFNFDAFYQA HYGEQLERER 

       190        200        210        220 
RLRARREALR KRQEYRSMKG LRWEDTRDTA AIFLIFSIFI IIGFYI 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF412025 mRNA. Translation: AAM62307.1.
AK058113 mRNA. Translation: BAB71671.1.
AC073846 Genomic DNA. Translation: AAS07471.1.
BC005056 mRNA. Translation: AAH05056.1.
CCDSCCDS5556.1.
RefSeqNP_115693.2. NM_032317.2.
UniGeneHs.647046.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2YUANMR-A39-124[»]
ProteinModelPortalQ96LL9.
SMRQ96LL9. Positions 40-128.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124004. 1 interaction.
IntActQ96LL9. 1 interaction.
STRING9606.ENSP00000378605.

PTM databases

PhosphoSiteQ96LL9.

Polymorphism databases

DMDM24212614.

Proteomic databases

MaxQBQ96LL9.
PaxDbQ96LL9.
PRIDEQ96LL9.

Protocols and materials databases

DNASU84277.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000395176; ENSP00000378605; ENSG00000176410.
ENST00000574873; ENSP00000460342; ENSG00000261940.
GeneID84277.
KEGGhsa:84277.
UCSCuc003tys.1. human.

Organism-specific databases

CTD84277.
GeneCardsGC07M073095.
HGNCHGNC:16410. DNAJC30.
HPAHPA017318.
neXtProtNX_Q96LL9.
Orphanet904. Williams syndrome.
PharmGKBPA162383931.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0484.
HOGENOMHOG000112220.
HOVERGENHBG062643.
InParanoidQ96LL9.
OMARWDETRD.
OrthoDBEOG71G9X5.
PhylomeDBQ96LL9.
TreeFamTF332749.

Gene expression databases

BgeeQ96LL9.
CleanExHS_DNAJC30.
GenevestigatorQ96LL9.

Family and domain databases

Gene3D1.10.287.110. 1 hit.
InterProIPR001623. DnaJ_domain.
[Graphical view]
PfamPF00226. DnaJ. 1 hit.
[Graphical view]
PRINTSPR00625. JDOMAIN.
SMARTSM00271. DnaJ. 1 hit.
[Graphical view]
SUPFAMSSF46565. SSF46565. 1 hit.
PROSITEPS50076. DNAJ_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ96LL9.
GenomeRNAi84277.
NextBio73858.
PROQ96LL9.

Entry information

Entry nameDJC30_HUMAN
AccessionPrimary (citable) accession number: Q96LL9
Secondary accession number(s): Q9BSG8
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM