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Acid ceramidase

Summary

UniProt ID

Q13510

Gene Symbol

ASAH1
ASAH

Organism

Homo sapiens (human)

External Links

GlycoProtDB

GPDB0011879

GlyConnect

GlyGen

Q13510

PubChem

Q13510

SwissLipids

SLP:000000162

The Human Metabolome Database

HMDBP01084

The O-GlcNAc Database

Q13510

RaftProt

Q13510

Annotation

Keyword

3D-structure
Alternative splicing
Cytoplasm
Direct protein sequencing
Disease variant
Disulfide bond
Epilepsy
Glycoprotein
Hydrolase
Lysosome
Neurodegeneration
Nucleus
Reference proteome
Secreted
Signal
Sphingolipid metabolism

Gene Ontology (GO)

Displaying **all 8** entries
GO Term
ceramide biosynthetic process
ceramide catabolic process
cellular response to tumor necrosis factor
fatty acid metabolic process
keratinocyte differentiation
regulation of steroid biosynthetic process
regulation of programmed necrotic cell death
sphingosine biosynthetic process

Displaying **all 8** entries
GO Term
extracellular space
nucleus
lysosome
extracellular exosome
tertiary granule lumen
lysosomal lumen
ficolin-1-rich granule lumen
extracellular region

Displaying **all 6** entries
GO Term
nuclear receptor binding
N-acylsphingosine amidohydrolase activity
fatty acid amide hydrolase activity
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides
transcription corepressor activity
ceramidase activity

Annotation information from UniProt.

Sequence

MPGRSCVALVLLAAAVSCAVAQHAPPWTEDCRKSTYPPSGPTYRGAVPWYTINLDLPPYKRWHELMLDKAPVLKVIVNSLKNMINTFVPSGKIMQVVDEKLPGLLGNFPGPFEEEMKGIAAVTDIPLGEIISFNIFYELFTICTSIVAEDKKGHLIHGRNMDFGVFLGWNINNDTWVITEQLKPLTVNLDFQRNNKTVFKASSFAGYVGMLTGFKPGLFSLTLNERFSINGGYLGILEWILGKKDVMWIGFLTRTVLENSTSYEEAKNLLTKTKILAPAYFILGGNQSGEGCVITRDRKESLDVYELDAKQGRWYVVQTNYDRWKHPFFLDDRRTPAKMCLNRTSQENISFETMYDVLSTKPVLNKLTVYTTLIDVTKGQFETYLRDCPDPCIGW

N : N-glycosylation Site
___ : Potential Sequon

Glycosylation Sites

Displaying **all 8** entries
Position	Description	PubMed ID	GlyTouCan ID	Source
170				GlyGen
173	N-linked (GlcNAc...) asparagine	29692406		UniProt GlyGen
195	N-linked (GlcNAc...) asparagine			UniProt GlyGen
259	N-linked (GlcNAc...) asparagine	12754519 16263699 16335952 19159218 29692406	G11101UV G63136LV G85677PP G85282JO G33416PL G07246CJ G70375MX G43223CG G26330YA G34029GR G83460ZZ G72747WU G46503DX G20210JR G01650EU G80920RR G02886BB G90659AW G64409MC G84820NF G12313PD G37399XV G82463GQ G62765YT G64527OM G62894KT G11870QZ G88891KO G10486CT G05049YU G28541PG G18647XP G82119TF G95865ZB G05724UK G31852PQ G90575OW G49955PK G39446WN G39188ZX G41247ZX G50282JC G57776ZU G02815KT G06110VR G84349RE G92050GC G92275SC G28681TP G58001LT	GlycoProtDB UniProt GlyGen GlyConnect
286	N-linked (GlcNAc...) asparagine	12754519 19159218 29692406	G90787TS G13191RB G69521XL G06247RL G40206WX G04854VP G94470IW G87123QX G92135MA G98611JV G22310AV G45395BF G85554PZ G31028YV G14972EH G43223CG G49642SA G58954YZ G37412TK G10846ZT G40574BA G82830MN G00273SJ G08918WF G00912UN G48414YA G87661QW G83646BJ G17208MA G27058EU G24528MX G46524LG G51653BI G85582CB G83460ZZ G96091TT G51640FO G41071NU G07755XJ G86182NS G49018RC G72747WU G60923RB G70619PT G06356OH G59626AS G08290VR G92406TI G46503DX G41840AI G01650EU G23294PN G70101JE G80920RR G01485JJ G50757KG G73968GN G65184UU G42124LM G02886BB G90659AW G45504EY G37399XV G62765YT G11870QZ G47644PP G72790NZ G10486CT G05049YU G90734RJ G28541PG G18647XP G82119TF G85269DF G72291OX G95865ZB G05724UK G31852PQ G49955PK G72787SB G23719VF G39446WN G11314AS G22572EH G39188ZX G41247ZX G35029YA G57776ZU G02815KT G06110VR G00406II G57317CE G92050GC G74724QE G92275SC G14669DU G28681TP G58001LT G54010QB	GlycoProtDB UniProt GlyGen GlyConnect
295			G49108TO	GlyGen The O-GlcNAc Database
342	N-linked (GlcNAc...) asparagine	29692406	G70101JE G64527OM G05724UK G39188ZX G06110VR G74724QE G14669DU	UniProt GlyGen GlyConnect
348	N-linked (GlcNAc...) asparagine		G02528FI G00912UN G41840AI G01650EU G80920RR G47702MW G77547TA G37399XV G62765YT G05049YU G28541PG G95865ZB G31852PQ G90575OW G39446WN G39188ZX G41247ZX G50282JC G02815KT G06110VR G84349RE G92050GC G92275SC	UniProt GlyGen GlyConnect

Feature

: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt

Pathway

Displaying **all 3** entries
Pathway Name	Organism
Glycosphingolipid catabolism	Homo sapiens
Neutrophil degranulation	Homo sapiens
Regulation of MITF-M-dependent genes involved in lysosome biogenesis and autophagy	Homo sapiens

Human Protein Atlas

ENSG00000104763

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

Disease

Displaying entries **1 - 10** of **172** in total

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DO ID	Disease Name	Source
DOID:0060189	ileitis	DisGeNET
DOID:0050328	congenital hypothyroidism	DisGeNET
DOID:0050439	Usher syndrome	DisGeNET
DOID:0050464	Farber lipogranulomatosis	Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database Glyco-Disease Genes Database DisGeNET
DOID:0050841	focal hand dystonia	DisGeNET
DOID:0050902	medulloblastoma	DisGeNET
DOID:0060162	dentatorubral-pallidoluysian atrophy	DisGeNET DisGeNET
DOID:0060180	colitis	DisGeNET
DOID:0060190	ileocolitis	DisGeNET
DOID:0060193	amyotrophic lateral sclerosis type 1	DisGeNET

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

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Acknowledgements