Details for: ASAH1

Gene ID: 427

Symbol: ASAH1

Ensembl ID: ENSG00000104763

Description: N-acylsphingosine amidohydrolase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 442.7008
    Cell Significance Index: -68.8600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 249.6813
    Cell Significance Index: -63.3300
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 190.1698
    Cell Significance Index: -78.3400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 170.1465
    Cell Significance Index: -80.3300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 170.1386
    Cell Significance Index: -69.1200
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 147.7297
    Cell Significance Index: -75.9900
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 119.8172
    Cell Significance Index: -80.4000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 72.4488
    Cell Significance Index: -69.1700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 59.1992
    Cell Significance Index: -72.9900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 25.9719
    Cell Significance Index: -69.5800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 19.6957
    Cell Significance Index: -77.7200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 17.0864
    Cell Significance Index: -52.4800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 12.6748
    Cell Significance Index: -27.7400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 7.7519
    Cell Significance Index: 71.3900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 6.8848
    Cell Significance Index: 127.2500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 3.3202
    Cell Significance Index: 598.5300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 2.1067
    Cell Significance Index: 110.6100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.9943
    Cell Significance Index: 153.0400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.9594
    Cell Significance Index: 240.9200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.9131
    Cell Significance Index: 99.3800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.6781
    Cell Significance Index: 125.0700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.4643
    Cell Significance Index: 799.7000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 1.3842
    Cell Significance Index: 177.4400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.1872
    Cell Significance Index: 238.1600
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 1.1610
    Cell Significance Index: 17.1400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.1465
    Cell Significance Index: 157.4500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.9838
    Cell Significance Index: 45.8700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.6797
    Cell Significance Index: 300.5200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.6735
    Cell Significance Index: 18.0200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6557
    Cell Significance Index: 235.2000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5802
    Cell Significance Index: 115.1400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.5193
    Cell Significance Index: 27.0500
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.5099
    Cell Significance Index: 11.7800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4806
    Cell Significance Index: 91.4600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.4412
    Cell Significance Index: 12.0100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3947
    Cell Significance Index: 27.3000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3875
    Cell Significance Index: 268.0400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.3825
    Cell Significance Index: 49.4100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.3492
    Cell Significance Index: 24.7000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.2805
    Cell Significance Index: 212.3000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2432
    Cell Significance Index: 24.0600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1757
    Cell Significance Index: 330.8400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1144
    Cell Significance Index: 19.5400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0647
    Cell Significance Index: 4.1800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0184
    Cell Significance Index: 13.4700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0172
    Cell Significance Index: 0.4600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0144
    Cell Significance Index: 1.4700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0023
    Cell Significance Index: 0.1100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0055
    Cell Significance Index: -4.0700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0086
    Cell Significance Index: -5.4500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0193
    Cell Significance Index: -35.5100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0196
    Cell Significance Index: -30.1800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0452
    Cell Significance Index: -61.4800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0477
    Cell Significance Index: -1.6800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0664
    Cell Significance Index: -41.4500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0715
    Cell Significance Index: -32.4700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0818
    Cell Significance Index: -46.1200
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.1209
    Cell Significance Index: -2.9500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1337
    Cell Significance Index: -28.1700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1988
    Cell Significance Index: -57.1900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2159
    Cell Significance Index: -24.7400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2362
    Cell Significance Index: -27.5300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2437
    Cell Significance Index: -14.9800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.2480
    Cell Significance Index: -29.2500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2697
    Cell Significance Index: -39.2100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.3616
    Cell Significance Index: -4.3100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.4040
    Cell Significance Index: -11.2900
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.4338
    Cell Significance Index: -5.3800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.4589
    Cell Significance Index: -20.8000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.4864
    Cell Significance Index: -8.1400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.5059
    Cell Significance Index: -10.5900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.5157
    Cell Significance Index: -32.5100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.5205
    Cell Significance Index: -35.0000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.5360
    Cell Significance Index: -61.1800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.5673
    Cell Significance Index: -7.7400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.6705
    Cell Significance Index: -69.8100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.7018
    Cell Significance Index: -18.4600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.7191
    Cell Significance Index: -15.5800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.7799
    Cell Significance Index: -24.9800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.7889
    Cell Significance Index: -13.5200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.8137
    Cell Significance Index: -17.3300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.8330
    Cell Significance Index: -65.9700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.8530
    Cell Significance Index: -37.7300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.9525
    Cell Significance Index: -53.4500
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.9614
    Cell Significance Index: -7.4100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.9618
    Cell Significance Index: -24.5700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.9709
    Cell Significance Index: -33.7400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -1.0222
    Cell Significance Index: -38.7100
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -1.0270
    Cell Significance Index: -8.2000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.0401
    Cell Significance Index: -63.7700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -1.2882
    Cell Significance Index: -13.3400
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -1.3067
    Cell Significance Index: -19.5800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.3533
    Cell Significance Index: -39.8600
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -1.4933
    Cell Significance Index: -42.6200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -1.5219
    Cell Significance Index: -39.1200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -1.5274
    Cell Significance Index: -38.1800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -1.5506
    Cell Significance Index: -44.4500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -1.5714
    Cell Significance Index: -46.1500
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -1.6151
    Cell Significance Index: -13.1700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -1.6155
    Cell Significance Index: -52.8900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** ASAH1 is a hydrolase enzyme that catalyzes the hydrolysis of N-acylsphingosine to ceramide and acylsphingosine. This enzyme plays a pivotal role in the degradation of sphingolipids, which are essential components of cellular membranes. ASAH1 is highly expressed in various cell types, including immune cells, epithelial cells, and cardiac myocytes, and is involved in the regulation of immune responses, including neutrophil degranulation and programmed necrotic cell death. **Pathways and Functions:** ASAH1 is integrated into several signaling pathways, including the cellular response to tumor necrosis factor (TNF), the ceramidase activity pathway, and the sphingosine biosynthetic process. These pathways highlight the enzyme's role in regulating immune responses, lipid metabolism, and cell death. ASAH1 has been shown to interact with various proteins, including CD14 and CD16, which are involved in the regulation of immune cell function. **Functions:** The primary functions of ASAH1 include: 1. **Sphingolipid degradation:** ASAH1 plays a crucial role in the degradation of sphingolipids, which are essential components of cellular membranes. 2. **Immune system regulation:** ASAH1 is involved in the regulation of immune responses, including neutrophil degranulation and programmed necrotic cell death. 3. **Lipid metabolism:** ASAH1 is involved in the regulation of lipid metabolism, including the degradation of sphingolipids and the synthesis of ceramides. 4. **Cell death regulation:** ASAH1 has been shown to regulate programmed necrotic cell death, which is a critical process in maintaining tissue homeostasis. **Clinical Significance:** Dysregulation of ASAH1 has been implicated in various diseases, including: 1. **Autoimmune disorders:** ASAH1 dysregulation has been linked to autoimmune disorders, such as rheumatoid arthritis and multiple sclerosis. 2. **Cancer:** ASAH1 has been shown to play a role in cancer development and progression, particularly in the regulation of immune responses and cell death. 3. **Cardiovascular disease:** ASAH1 dysregulation has been implicated in the development of cardiovascular disease, including atherosclerosis and cardiac hypertrophy. 4. **Neurological disorders:** ASAH1 has been linked to various neurological disorders, including Alzheimer's disease and Parkinson's disease. In conclusion, ASAH1 is a critical enzyme involved in sphingolipid metabolism, immune regulation, and cell death regulation. Its dysregulation has been implicated in various diseases, highlighting the importance of ASAH1 in maintaining cellular homeostasis and immune function. Further research is needed to fully elucidate the role of ASAH1 in human disease and to develop therapeutic strategies targeting this enzyme.

Genular Protein ID: 875613905

Symbol: ASAH1_HUMAN

Name: Acylsphingosine deacylase

UniProtKB Accession Codes:

Q13510 E9PDS0 Q6W898 Q96AS2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CORUM 1 CTD 1 ChEBI 60 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugCentral 1 EC 2 EMBL 9 Ensembl 4 ExpressionAtlas 1 GO 22 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MEROPS 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 3 RefSeq 3 Rhea 31 SABIO-RK 1 SMR 1 STRING 1 SignaLink 1 SwissLipids 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8955159

Title: Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification of the first molecular lesion causing Farber disease.

PubMed ID: 8955159

DOI: 10.1074/jbc.271.51.33110

PubMed ID: 10993717

Title: Human acid ceramidase gene: novel mutations in Farber disease.

PubMed ID: 10993717

DOI: 10.1006/mgme.2000.3029

PubMed ID: 10610716

Title: The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression.

PubMed ID: 10610716

DOI: 10.1006/geno.1999.5940

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7852294

Title: The synthetic pathway for glucosylsphingosine in cultured fibroblasts.

PubMed ID: 7852294

DOI: 10.1093/oxfordjournals.jbchem.a124584

PubMed ID: 7744740

Title: Purification, characterization, and biosynthesis of human acid ceramidase.

PubMed ID: 7744740

DOI: 10.1074/jbc.270.19.11098

PubMed ID: 11451951

Title: Human acid ceramidase: processing, glycosylation, and lysosomal targeting.

PubMed ID: 11451951

DOI: 10.1074/jbc.m103066200

PubMed ID: 12764132

Title: The reverse activity of human acid ceramidase.

PubMed ID: 12764132

DOI: 10.1074/jbc.m303310200

PubMed ID: 12815059

Title: Purification and characterization of recombinant, human acid ceramidase. Catalytic reactions and interactions with acid sphingomyelinase.

PubMed ID: 12815059

DOI: 10.1074/jbc.m301936200

PubMed ID: 12754519

Title: Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.

PubMed ID: 12754519

DOI: 10.1038/nbt827

PubMed ID: 15655246

Title: Molecular characterization of N-acylethanolamine-hydrolyzing acid amidase, a novel member of the choloylglycine hydrolase family with structural and functional similarity to acid ceramidase.

PubMed ID: 15655246

DOI: 10.1074/jbc.m413473200

PubMed ID: 16335952

Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

PubMed ID: 16335952

DOI: 10.1021/pr0502065

PubMed ID: 16263699

Title: Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach.

PubMed ID: 16263699

DOI: 10.1074/mcp.m500324-mcp200

PubMed ID: 17713573

Title: Upregulation of the human alkaline ceramidase 1 and acid ceramidase mediates calcium-induced differentiation of epidermal keratinocytes.

PubMed ID: 17713573

DOI: 10.1038/sj.jid.5701025

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22927646

Title: Acid ceramidase (ASAH1) represses steroidogenic factor 1-dependent gene transcription in H295R human adrenocortical cells by binding to the receptor.

PubMed ID: 22927646

DOI: 10.1128/mcb.00378-12

PubMed ID: 22261821

Title: Acid ceramidase (ASAH1) is a global regulator of steroidogenic capacity and adrenocortical gene expression.

PubMed ID: 22261821

DOI: 10.1210/me.2011-1150

PubMed ID: 26898341

Title: Lysosomal glycosphingolipid catabolism by acid ceramidase: formation of glycosphingoid bases during deficiency of glycosidases.

PubMed ID: 26898341

DOI: 10.1002/1873-3468.12104

PubMed ID: 36752535

Title: Acid ceramidase involved in pathogenic cascade leading to accumulation of alpha-synuclein in iPSC model of GBA1-associated Parkinson's disease.

PubMed ID: 36752535

DOI: 10.1093/hmg/ddad025

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 30525581

Title: Molecular mechanism of inhibition of acid ceramidase by carmofur.

PubMed ID: 30525581

DOI: 10.1021/acs.jmedchem.8b01723

PubMed ID: 29692406

Title: Structural basis for the activation of acid ceramidase.

PubMed ID: 29692406

DOI: 10.1038/s41467-018-03844-2

PubMed ID: 11241842

Title: Molecular analysis of acid ceramidase deficiency in patients with Farber disease.

PubMed ID: 11241842

DOI: 10.1002/humu.5

PubMed ID: 12638942

Title: Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease.

PubMed ID: 12638942

DOI: 10.1023/a:1022047408477

PubMed ID: 16951918

Title: Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family.

PubMed ID: 16951918

DOI: 10.1007/s10038-006-0019-z

PubMed ID: 20609603

Title: Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.

PubMed ID: 20609603

DOI: 10.1016/j.ejpn.2010.06.002

PubMed ID: 22703880

Title: Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.

PubMed ID: 22703880

DOI: 10.1016/j.ajhg.2012.05.001

PubMed ID: 21893389

Title: Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.

PubMed ID: 21893389

DOI: 10.1016/j.braindev.2011.07.003

PubMed ID: 21982811

Title: A novel mutation in an atypical presentation of the rare infantile Farber disease.

PubMed ID: 21982811

DOI: 10.1016/j.braindev.2011.09.006

PubMed ID: 24164096

Title: Evidence for clinical, genetic and biochemical variability in spinal muscular atrophy with progressive myoclonic epilepsy.

PubMed ID: 24164096

DOI: 10.1111/cge.12307

PubMed ID: 27411168

Title: Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations.

PubMed ID: 27411168

DOI: 10.1002/ajmg.a.37846

PubMed ID: 26945816

Title: Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.

PubMed ID: 26945816

DOI: 10.1002/art.39659

PubMed ID: 27026573

Title: ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.

PubMed ID: 27026573

DOI: 10.1038/ejhg.2016.28

PubMed ID: 33798445

Title: Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.

PubMed ID: 33798445

DOI: 10.1016/j.ajhg.2021.03.013

Sequence Information:

  • Length: 395
  • Mass: 44660
  • Checksum: 83467DBE8917DB6D
  • Sequence:
    • MPGRSCVALV LLAAAVSCAV AQHAPPWTED CRKSTYPPSG PTYRGAVPWY TINLDLPPYK 
RWHELMLDKA PVLKVIVNSL KNMINTFVPS GKIMQVVDEK LPGLLGNFPG PFEEEMKGIA 
AVTDIPLGEI ISFNIFYELF TICTSIVAED KKGHLIHGRN MDFGVFLGWN INNDTWVITE 
QLKPLTVNLD FQRNNKTVFK ASSFAGYVGM LTGFKPGLFS LTLNERFSIN GGYLGILEWI 
LGKKDVMWIG FLTRTVLENS TSYEEAKNLL TKTKILAPAY FILGGNQSGE GCVITRDRKE 
SLDVYELDAK QGRWYVVQTN YDRWKHPFFL DDRRTPAKMC LNRTSQENIS FETMYDVLST 
KPVLNKLTVY TTLIDVTKGQ FETYLRDCPD PCIGW

Genular Protein ID: 1185543240

Symbol: Q53H01_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q53H01

Database IDs:

ARBA 15 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 4 DNASU 1 DisGeNET 1 EC 1 EMBL 2 GO 7 InterPro 3 KEGG 1 MEROPS 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSF 1 PIRSR 1 PROSITE 1 Pfam 4 PharmGKB 1 RefSeq 3 Rhea 1 SAM 1 SMR 1

Citations:

PubMed ID: 8125298

Title: Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.

PubMed ID: 8125298

DOI: 10.1016/0378-1119(94)90802-8

PubMed ID: 9373149

Title: Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.

PubMed ID: 9373149

DOI: 10.1016/S0378-1119(97)00411-3

Sequence Information:

  • Length: 395
  • Mass: 44692
  • Checksum: A20FCC0E1B139F72
  • Sequence:
    • MPGRSCVALV LLAVAVSCAV AQHAPPWTED CRKSTYPPSG PTYRGAVPWY TINLDLPPYK 
RWHELMLDKA PMLKVIVNSL KNMINTFVPS GKVMQVVDEK LPGLLGNFPG PFEEEMKGIA 
AVTDIPLGEI ISFNIFYELF TICTSIVAED KKGHLIHGRN MDFGVFLGWN INNDTWVITE 
QLRPLTVNLD FQRNNKTVFK ASSFAGYVGM LTGFKPGLFS LTLNERFSIN GGYLGILEWI 
LGKKDAMWIG FLTRTVLENS TSYEEAKNLL TKTKILAPAY FVLGGNQSGE GCVITRDRKE 
SLDVYELDAK QGRWYVVQTN YDRWKHPFFL DDRRTPAKMC LNRTSQENIS FETMYDVLST 
KPVLNKLTVY TTLIDVTKGQ FETYLRDCPD PCIGW

Genular Protein ID: 2273286424

Symbol: A8K0B6_HUMAN

Name: N/A

UniProtKB Accession Codes:

A8K0B6

Database IDs:

ARBA 15 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 4 DNASU 1 DisGeNET 1 EC 1 EMBL 2 GO 7 InterPro 3 KEGG 1 MEROPS 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRNR 1 PIRSF 1 PIRSR 1 PROSITE 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 RefSeq 3 Rhea 1 SAM 1 SMR 1

Sequence Information:

  • Length: 395
  • Mass: 44674
  • Checksum: CC66BC47663C0351
  • Sequence:
    • MPGRSCVALV HLAAAVSCAV AQHAPPWTED CRKSTYPPSG PTYRGAVPWY TINLDLPPYK 
RWHELMLDKA PMLKVIVNSL KNMINTFVPS GKVMQVVDEK LPGLLGNFPG PFEEEMKGIA 
AVTDIPLGEI ISFNIFYELF TICTSIVAED KKGHLIHGRN MDFGVFLGWN INNDTWVITE 
QLKPLTVNLD FQRNNKTVFK ASSFAGYVGM LTGFKPGLFS LTLNERFSIN GGYLGILEWI 
LGKKDAMWIG FLTRTVLENS TSYEEAKNLL TKTKILAPAY FILGGNQSGE GCVITRDRKE 
SLDVYELDAK QGRWYVVQTN YDRWKHPFFL DDRRTPAKMC LNRTSQENIS FETMYDVLST 
KPVLNKLTVY TTLIDVTKGQ FETYLRDCPD PCIGW

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.