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FLASH GENE

Symbol

DNAJC12

contributors: mct - updated : 09-03-2017

HGNC name	DnaJ (Hsp40) homolog, subfamily C, member 12
HGNC id	28908

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DNAJC12D DNAJC12 deficiency
Location	10q21.3      Physical location : 69.556.427 - 69.597.937
Synonym name	J domain containing protein 1
Synonym symbol(s)	JDP1, RP11-57G10.2

DNA

TYPE	functioning gene
STRUCTURE	41.51 kb     5 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_021800 5 splicing polyA site 1218 NP_068572 23.4 198 - 2014 24122553 NM_201262 3 splicing polyA site 785 NP_957714 12.5 107 - 2014 24122553

EXPRESSION

Type

constitutive of

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 Cardiovascular heart       highly Digestive liver       moderately   stomach       lowly Endocrine pancreas       highly Nervous brain       highly Reproductive male system prostate     moderately   male system testis     highly Respiratory lung       moderately Urinary kidney       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a J domain

HOMOLOGY

interspecies	ortholog to murine Jdp1-pending
	homolog to rattus Jdp1
	homolog to zebrafish Dr.14456

Homologene

FAMILY	heat shock co-chaperone family
	HSP40/DNAJ family

CATEGORY

chaperone/stress

SUBCELLULAR LOCALIZATION

basic FUNCTION

J domain-containing protein, having a role in the regulation of HSPA8 function

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

other,

interacts with phenylalanine, tyrosine, and tryptophan hydroxylases catalyzing the BH4-activated conversion of phenylalanine into tyrosine, tyrosine into L-dopa (the precursor of dopamine), and tryptophan into 5-hydroxytryptophan (the precursor of serotonin), respectively

protein

cell & other

REGULATION

activated by

upregulated by endoplasmic reticulum stress

ASSOCIATED DISORDERS

corresponding disease(s)

DNAJC12D

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS