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FLASH GENE

Symbol

DNAJC30

contributors: mct/npt - updated : 22-06-2022

HGNC name	DnaJ (Hsp40) homolog, subfamily C, member 30
HGNC id	16410

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LHONAR Leber hereditary optic neuropathy, autosomal recessive WBS Williams Beuren syndrome
Location	7q11.23      Physical location : 73.095.247 - 73.097.781
Synonym name	Williams Beuren syndrome chromosome region 18
Synonym symbol(s)	MGC12943, WBSCR18, LHONAR, MC1DN38

DNA

TYPE	functioning gene
STRUCTURE	2.53 kb     1 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

regionally located

in a region commonly deleted in Williams-Beuren syndrome

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_032317 1 - 2536 NP_115693 26 226 - 2018 30318146

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol blood / hematopoietic spleen         Cardiovascular heart       highly Digestive stomach         Endocrine parathyroid       highly Hearing/Equilibrium ear       highly Nervous brain         Reproductive male system testis       Respiratory respiratory tract larynx     highly Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Lymphoid

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	placenta, brain, liver, kidney, heart, lung

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a DNAJ domain
	a putative C-terminal transmembrane segment

HOMOLOGY

interspecies	homolog to murine Wbscr18
	homolog to C.elegans R10h10.1

Homologene

FAMILY

DNAJ molecular chaperone homology domain-containing protein family

CATEGORY

chaperone/stress

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,membrane

basic FUNCTION	is an auxiliary component of ATP-synthase machinery
	is a protein chaperone required for exchange of damaged complex I subunits

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

interacts with mitochondrial ATP-synthase machinery

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

WBS , LHONAR

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS