Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

HSD17B10

contributors: mct/npt - updated : 31-05-2018

HGNC name	hydroxysteroid (17-beta) dehydrogenase 10
HGNC id	4800

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	3.12 kb     6 Exon(s)

regulatory sequence	Promoter
	cytosine-phosphate-guanine/HTF
text structure	hypomethylation of the CpG island provides additional evidence for the variable escape of the HSD17B10 gene from X-chromosome inactivation which could influence the range of severity of HSD17B10 deficiency, an inherited error in isoleucine metabolism, in heterozygous females

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_004493 6 - 963 NP_004484 26 261 - Yang (2007) NM_001037811 6 - 936 NP_001032900 - 252 - Yang (2007) uses an alternate in-frame splice site in the 3' coding region

EXPRESSION

Type	ubiquitous

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 thymus       highly Digestive liver       highly Endocrine pancreas       highly Nervous brain diencephalon hypothalamus   highly Reproductive male system prostate     highly   male system testis     highly Respiratory lung       highly

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Nervous astrocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

N terminal mitochondrial targeting sequence

mono polymer

homomer , tetramer

HOMOLOGY

interspecies

homolog to murine Hsd17b10

Homologene

FAMILY

short chain dehydrogenase/reductase (SDR) family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	hippocampal synaptic mitochondria

basic FUNCTION	mitochondrial multifunctional enzyme, which catalyzes the oxidation of steroid modulators of GABA type A (GABAA) receptors, steroid hormones, and xenobiotics (Yang 2009)
	acting on a number of substrates including steroid, cholic acids, fatty acids preferentially short chain methyl-branched acyl-CoAs
	may be contributing to the neuronal dysfunction associated with Alzheimer disease
	involved in cognitive functions, through metabolism of isoleucine and neuroactive steroid
	mitochondrial enzyme important in isoleucine and branched-chain fatty-acid degradation
	is an essential component of mitochondrial Ribonuclease P (RNase P), an enzyme required for mitochondrial tRNA processing, but little is known about the role of HSD10 in RNase P function
	homotetrameric mitochondrial multifunctional enzyme catalyzes the oxidation of neuroactive steroids and the degradation of isoleucine
	play a protective role in cells undergoing stress
	TRMT10C along with HSD17B10 and KIAA0391, form the mitochondrial ribonuclease P (mt-RNase P) complex that cleaves the 5prime ends of mt-tRNAs from polycistronic precursor transcripts
	subunits TRMT10C and HSD17B10 form a subcomplex that binds conserved mitochondrial tRNA elements, including the anticodon loop, and positions the tRNA for methylation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

a component

RNase P consists of three different proteins TRMT10C, MRPP2 (HSD17B10) and MRPP3 (KIAA0391), each of which is essential for RNase P function

INTERACTION

DNA

RNA

small molecule

protein	is important for the maintenance of normal TRMT10C protein levels
	TRMT10C and HSD17B10 both deliver the pre-tRNA substrate and activate KIAA0391 through an induced-fit process
	presence of PRORP can enhance the methylation activity of TRMT10C/HSD17B10

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MHBD , CAMR , MRX17 , MRX31

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in elevated astrocytes in Alzheimer disease constitutional   amplification     duplicated in mental retardation constitutional       loss of function causes impaired mitochondrial precursor transcript processing which may explain mitochondrial dysfunction observed in HSD17B10 disease tumoral     --over   accelerates pheochromocytoma cell growth, enhances cell respiration, and increases cellular resistance to cell death induction

Susceptibility

to Alzheimer disease

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     blockade of HSD17B10 may halt and/or prevent cancer growth, thus providing a promising novel target for cancer patients as a therapeutic option neurology neurodegenerative alzheimer targeting mitochondrial ABAD may represent a novel therapeutic strategy against Alzheimer disease

ANIMAL & CELL MODELS