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Protein

DnaJ homolog subfamily C member 30

Gene

DNAJC30

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at protein leveli

Functioni

Keywordsi

Molecular functionChaperone

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
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:16410. DNAJC30.

Subcellular locationi

GO - Cellular componenti

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.1 Publication

Keywords - Diseasei

Williams-Beuren syndrome

Organism-specific databases

OpenTargetsiENSG00000176410.
PharmGKBiPA162383931.

Polymorphism and mutation databases

BioMutaiDNAJC30.
DMDMi24212614.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000711371 – 226DnaJ homolog subfamily C member 30Add BLAST226

Proteomic databases

EPDiQ96LL9.
MaxQBiQ96LL9.
PaxDbiQ96LL9.
PeptideAtlasiQ96LL9.
PRIDEiQ96LL9.

PTM databases

iPTMnetiQ96LL9.
PhosphoSitePlusiQ96LL9.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000176410.
CleanExiHS_DNAJC30.
GenevisibleiQ96LL9. HS.

Organism-specific databases

HPAiHPA017318.

Interactioni

Protein-protein interaction databases

BioGridi124004. 20 interactors.
IntActiQ96LL9. 4 interactors.
STRINGi9606.ENSP00000378605.

Structurei

Secondary structure

1226
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi49 – 54Combined sources6
Helixi62 – 75Combined sources14
Turni78 – 80Combined sources3
Helixi86 – 100Combined sources15
Helixi104 – 111Combined sources8
Helixi117 – 121Combined sources5

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YUANMR-A39-124[»]
ProteinModelPortaliQ96LL9.
SMRiQ96LL9.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96LL9.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini49 – 114JPROSITE-ProRule annotationAdd BLAST66

Phylogenomic databases

eggNOGiENOG410IRXH. Eukaryota.
COG0484. LUCA.
GeneTreeiENSGT00510000048685.
HOGENOMiHOG000112220.
HOVERGENiHBG062643.
InParanoidiQ96LL9.
KOiK19374.
OMAiKFYKSRF.
OrthoDBiEOG091G175V.
PhylomeDBiQ96LL9.
TreeFamiTF332749.

Family and domain databases

CDDicd06257. DnaJ. 1 hit.
Gene3Di1.10.287.110. 1 hit.
InterProiView protein in InterPro
IPR001623. DnaJ_domain.
PfamiView protein in Pfam
PF00226. DnaJ. 1 hit.
PRINTSiPR00625. JDOMAIN.
SMARTiView protein in SMART
SM00271. DnaJ. 1 hit.
SUPFAMiSSF46565. SSF46565. 1 hit.
PROSITEiView protein in PROSITE
PS50076. DNAJ_2. 1 hit.

Sequencei

Sequence statusi: Complete.

Q96LL9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAAMRWRWWQ RLLPWRLLQA RGFPQNSAPS LGLGARTYSQ GDCSYSRTAL
60 70 80 90 100
YDLLGVPSTA TQAQIKAAYY RQCFLYHPDR NSGSAEAAER FTRISQAYVV
110 120 130 140 150
LGSATLRRKY DRGLLSDEDL RGPGVRPSRT PAPDPGSPRT PPPTSRTHDG
160 170 180 190 200
SRASPGANRT MFNFDAFYQA HYGEQLERER RLRARREALR KRQEYRSMKG
210 220
LRWEDTRDTA AIFLIFSIFI IIGFYI
Length:226
Mass (Da):25,961
Last modified:October 19, 2002 - v3
Checksum:i8687C2A45790381D
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02443334G → R1 PublicationCorresponds to variant dbSNP:rs1128349Ensembl.1
Natural variantiVAR_048915167F → L. Corresponds to variant dbSNP:rs13244259Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDJC30_HUMAN
AccessioniPrimary (citable) accession number: Q96LL9
Secondary accession number(s): Q9BSG8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: October 19, 2002
Last modified: August 30, 2017
This is version 126 of the entry and version 3 of the sequence. See 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