Q96LL9 (DJC30_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
DnaJ homolog subfamily C member 30

Alternative name(s):
Williams-Beuren syndrome chromosomal region 18 protein

Gene names

Name:	DNAJC30
Synonyms:	WBSCR18

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	226 AA.
Sequence status	Complete.
Protein existence	Evidence 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 diversity	Polymorphism
Disease	Williams-Beuren syndrome
Molecular function	Chaperone
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	mitochondrion Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 226

226

DnaJ homolog subfamily C member 30

PRO_0000071137

Regions

Domain

49 – 114

66

J

Natural variations

Natural variant

34

1

G → R. Ref.4
Corresponds to variant rs1128349 [ dbSNP | Ensembl ].

VAR_024433

Natural variant

167

1

F → L.
Corresponds to variant rs13244259 [ dbSNP | Ensembl ].

VAR_048915

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

226

Helix Strand Turn

Details...

Helix

49 – 54

6

Helix

62 – 75

14

Turn

78 – 80

3

Helix

86 – 100

15

Helix

104 – 111

8

Helix

117 – 121

5

Sequences

	Sequence		Length	Mass (Da)
	Q96LL9 [UniParc]. Last modified October 19, 2002. Version 3. Checksum: 8687C2A45790381D	FASTA	226	25,961
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
+	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.

IPI

IPI00157375.

RefSeq

NP_115693.2. NM_032317.2.

UniGene

Hs.647046.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2YUA	NMR	-	A	39-124	[»]

ProteinModelPortal

Q96LL9.

ModBase

Search...

Protein-protein interaction databases

STRING

9606.ENSP00000378605.

PTM databases

PhosphoSite

Q96LL9.

Polymorphism databases

DMDM

24212614.

Proteomic databases

PaxDb

Q96LL9.

PRIDE

Q96LL9.

Protocols and materials databases

DNASU

84277.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000395176; ENSP00000378605; ENSG00000176410.
ENST00000574873; ENSP00000460342; ENSG00000261940.

GeneID

84277.

KEGG

hsa:84277.

UCSC

uc003tys.1. human.

Organism-specific databases

CTD

84277.

GeneCards

GC07M073095.

HGNC

HGNC:16410. DNAJC30.

HPA

HPA017318.

neXtProt

NX_Q96LL9.

Orphanet

904. Williams syndrome.

PharmGKB

PA162383931.

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG0484.

HOGENOM

HOG000112220.

HOVERGEN

HBG062643.

InParanoid

Q96LL9.

OMA

MFNFDAF.

OrthoDB

EOG447FVT.

PhylomeDB

Q96LL9.

Gene expression databases

Bgee

Q96LL9.

CleanEx

HS_DNAJC30.

Genevestigator

Q96LL9.

GermOnline

ENSG00000176410. Homo sapiens.

Family and domain databases

Gene3D

1.10.287.110. 1 hit.

InterPro

IPR001623. DnaJ_domain.
[Graphical view]

Pfam

PF00226. DnaJ. 1 hit.
[Graphical view]

PRINTS

PR00625. JDOMAIN.

SMART

SM00271. DnaJ. 1 hit.
[Graphical view]

SUPFAM

SSF46565. DnaJ_N. 1 hit.

PROSITE

PS00636. DNAJ_1. False negative.
PS50076. DNAJ_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

Q96LL9.

GenomeRNAi

84277.

NextBio

73858.

Entry information

Entry name

DJC30_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 94 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.