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FLASH GENE

Symbol

JHDM1D

contributors: shn - updated : 04-07-2010

HGNC name	jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae)
HGNC id	22224

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	92.19 kb     20 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D7S2468 - D7S2202 - JHDM1D - D7S1824 - D7S2513 - qter

RNA

TRANSCRIPTS	type

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_030647 20 - 9178 NP_085150 110 941 - 2010 20194436

EXPRESSION

Type

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       lowly Digestive intestine small intestine     moderately   liver       moderately Lymphoid/Immune spleen       lowly Nervous brain hindbrain cerebellum   predominantly Reproductive male system seminal vesicles     moderately Respiratory lung       lowly Urinary kidney       moderately

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a JmjC domain
	1 PHD-type zinc finger
	a predicted Fe(II)- and a alpha-ketoglutarate (á-KG)-binding sites

HOMOLOGY

interspecies

ortholog to LOC321248, Danio rerio

Homologene

FAMILY	JHDM1 histone demethylase family
	JmjC domain-containing proteins subfamily

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION

basic FUNCTION	might contribute to transcriptional regulation of genes in the nervous system
	might regulate the proliferation or differentiation of neurons and plays an important role in brain development
	ability to mediate the direct removal of methyl groups from H3K9me2/me1 and H3K27me2/me1
	co-activator function having important functional roles in neuronal development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development , nervous system

text	histone demethylase activity

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA	regulates transcription and H3K9me2 and H3K27me2 levels of the follistatin gene

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	splicing-blocking antisense morpholino oligonucleotides that targeting Zebrafish KDM7 ortholog lead to a curly tail and marked decrease in size of the tectum with loss of neurons
	depletion of KDM7 by RNAi in primary cultured mouse neurons also resulted in down-regulation of follistatin mRNA