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FLASH GENE

Symbol

ASAH1

contributors: mct/pgu - updated : 03-07-2018

HGNC name	N-acylsphingosine amidohydrolase (acid ceramidase) 1
HGNC id	735

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	28.58 kb     14 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004315 14 - 2551 NP_004306 - 411 - 1996 8955159 differs in the 5' UTR and coding region, these differences cause translation initiation at an upstream ATG and an isoform (b) with a distinct N-terminus ASAH1b plays an essential role in motor-neuron axonal branching and in the survival of spinal-cord neurons NM_177924 14 - 2618 NP_808592 44.6 395 - 1996 8955159 isoform a, preproprotein NM_001127505 14 - 2485 NP_001120977 - 389 skeletal muscle 1996 8955159 isoform c NM_001363743 14 - 2267 NP_001350672 - 330 - 1996 8955159

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 Cardiovascular heart       highly Homo sapiens Reproductive female system placenta     lowly Homo sapiens Respiratory lung       lowly Homo sapiens Urinary kidney       highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   lowly Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a leader sequence followed by the alpha subunit (13kDa) and beta subunit (40kDa) in the C region
	six N-linked glycosylation sites

conjugated

GlycoP

mono polymer

heteromer , dimer

isoforms

Precursor

heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit

HOMOLOGY

Homologene

FAMILY

acid ceramidase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,lysosome
text	localized to the lysosomal compartment

basic FUNCTION	catalyzing the degradation of ceramide to fatty acid and sphingosine
	is a pivotal regulator of steroidogenic capacity in the human adrenal cortex
	ASAH1 and AKT2 cooperate to induce malignant transformation
	acid ceramidase that is involved in the degradation of ceramide into sphingosine and free fatty acids within lysosomes
	is involved in the regulation of cell viability
	plays a critical role in AML survival through regulation of both sphingolipid levels and MCL1
	is an acid ceramidase known to be involved in tumor formation by controlling the ratio of ceramide and sphingosine
	ASAH1 is also involved in cell proliferation and inflammation, and may affect the development of keloids via multiple mechanisms

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

a component

heterodimer of an alpha (13kDa) and beta (40kDa) subunits

INTERACTION

DNA

RNA

small molecule

protein	interacting with KLF6 (transcription factor involved in the regulation of ASAH1 gene expression)
	upregulation of ACER1 and ASAH1 mediates calcium-induced differentiation of epidermal keratinocytes
	general transcription target of IRF8
	ASAH1 is a novel coregulatory protein that represses NR5A1 function by directly binding to the receptor on NR5A1 target gene promoters and identify a key role for nuclear lipid metabolism in regulating gene transcription

cell & other

REGULATION

Other	targeted to the lysosome by M6P receptor mediated pathway
	CREBP-responsive regions in the promoter ACTH signaling pathway induces ASAH1 transcription by stimulating the binding of CREBP in the promoter

ASSOCIATED DISORDERS

corresponding disease(s)

FLGD , SMAPME

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in prostate carcinoma

Susceptibility

to adult SMA phenotype with no myoclonic epilepsy

Variant & Polymorphism SNP	association between ASAH1 variants and an adult SMA phenotype with no myoclonic epilepsy nor death in early age

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive breast expression correlates with a better prognosis in ER-positive breast cancer cancer reproductive prostate critical regulator of prostate cancer progression by affecting tumor cell proliferation and migration and also responses to drug therapy, suggesting ASAH1 as a potential therapy target in advanced PCa

ANIMAL & CELL MODELS