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2024-04-26 05:46:14, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001143974 2327 bp mRNA linear PRI 07-JUL-2013
DEFINITION Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal
ceramidase) 2 (ASAH2), transcript variant 2, mRNA.
ACCESSION NM_001143974
VERSION NM_001143974.1 GI:221307474
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 2327)
AUTHORS Del-Aguila,J.L., Beitelshees,A.L., Cooper-Dehoff,R.M.,
Chapman,A.B., Gums,J.G., Bailey,K., Gong,Y., Turner,S.T.,
Johnson,J.A. and Boerwinkle,E.
TITLE Genome-wide association analyses suggest NELL1 influences adverse
metabolic response to HCTZ in African Americans
JOURNAL Pharmacogenomics J. (2013) In press
PUBMED 23400010
REMARK Publication Status: Available-Online prior to print
REFERENCE 2 (bases 1 to 2327)
AUTHORS Kottgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark
C, Pistis G, Ruggiero D, O'Seaghdha CM, Haller T, Yang Q, Tanaka T,
Johnson AD, Kutalik Z, Smith AV, Shi J, Struchalin M, Middelberg
RP, Brown MJ, Gaffo AL, Pirastu N, Li G, Hayward C, Zemunik T,
Huffman J, Yengo L, Zhao JH, Demirkan A, Feitosa MF, Liu X, Malerba
G, Lopez LM, van der Harst P, Li X, Kleber ME, Hicks AA, Nolte IM,
Johansson A, Murgia F, Wild SH, Bakker SJ, Peden JF, Dehghan A,
Steri M, Tenesa A, Lagou V, Salo P, Mangino M, Rose LM, Lehtimaki
T, Woodward OM, Okada Y, Tin A, Muller C, Oldmeadow C, Putku M,
Czamara D, Kraft P, Frogheri L, Thun GA, Grotevendt A, Gislason GK,
Harris TB, Launer LJ, McArdle P, Shuldiner AR, Boerwinkle E, Coresh
J, Schmidt H, Schallert M, Martin NG, Montgomery GW, Kubo M,
Nakamura Y, Tanaka T, Munroe PB, Samani NJ, Jacobs DR Jr, Liu K,
D'Adamo P, Ulivi S, Rotter JI, Psaty BM, Vollenweider P, Waeber G,
Campbell S, Devuyst O, Navarro P, Kolcic I, Hastie N, Balkau B,
Froguel P, Esko T, Salumets A, Khaw KT, Langenberg C, Wareham NJ,
Isaacs A, Kraja A, Zhang Q, Wild PS, Scott RJ, Holliday EG, Org E,
Viigimaa M, Bandinelli S, Metter JE, Lupo A, Trabetti E, Sorice R,
Doring A, Lattka E, Strauch K, Theis F, Waldenberger M, Wichmann
HE, Davies G, Gow AJ, Bruinenberg M, Stolk RP, Kooner JS, Zhang W,
Winkelmann BR, Boehm BO, Lucae S, Penninx BW, Smit JH, Curhan G,
Mudgal P, Plenge RM, Portas L, Persico I, Kirin M, Wilson JF, Mateo
Leach I, van Gilst WH, Goel A, Ongen H, Hofman A, Rivadeneira F,
Uitterlinden AG, Imboden M, von Eckardstein A, Cucca F, Nagaraja R,
Piras MG, Nauck M, Schurmann C, Budde K, Ernst F, Farrington SM,
Theodoratou E, Prokopenko I, Stumvoll M, Jula A, Perola M, Salomaa
V, Shin SY, Spector TD, Sala C, Ridker PM, Kahonen M, Viikari J,
Hengstenberg C, Nelson CP, Meschia JF, Nalls MA, Sharma P,
Singleton AB, Kamatani N, Zeller T, Burnier M, Attia J, Laan M,
Klopp N, Hillege HL, Kloiber S, Choi H, Pirastu M, Tore S,
Probst-Hensch NM, Volzke H, Gudnason V, Parsa A, Schmidt R,
Whitfield JB, Fornage M, Gasparini P, Siscovick DS, Polasek O,
Campbell H, Rudan I, Bouatia-Naji N, Metspalu A, Loos RJ, van Duijn
CM, Borecki IB, Ferrucci L, Gambaro G, Deary IJ, Wolffenbuttel BH,
Chambers JC, Marz W, Pramstaller PP, Snieder H, Gyllensten U,
Wright AF, Navis G, Watkins H, Witteman JC, Sanna S, Schipf S,
Dunlop MG, Tonjes A, Ripatti S, Soranzo N, Toniolo D, Chasman DI,
Raitakari O, Kao WH, Ciullo M, Fox CS, Caulfield M, Bochud M and
Gieger C.
CONSRTM LifeLines Cohort Study; CARDIoGRAM Consortium; DIAGRAM Consortium;
ICBP Consortium; MAGIC Consortium
TITLE Genome-wide association analyses identify 18 new loci associated
with serum urate concentrations
JOURNAL Nat. Genet. 45 (2), 145-154 (2013)
PUBMED 23263486
REFERENCE 3 (bases 1 to 2327)
AUTHORS O'Neill,S.M., Yun,J.K., Fox,T.E. and Kester,M.
TITLE Transcriptional regulation of the human neutral ceramidase gene
JOURNAL Arch. Biochem. Biophys. 511 (1-2), 21-30 (2011)
PUBMED 21531200
REMARK GeneRIF: cloned a 3000 bp region upstream of the translational
start site of the nCDase gene
REFERENCE 4 (bases 1 to 2327)
AUTHORS Ohlsson,L., Palmberg,C., Duan,R.D., Olsson,M., Bergman,T. and
Nilsson,A.
TITLE Purification and characterization of human intestinal neutral
ceramidase
JOURNAL Biochimie 89 (8), 950-960 (2007)
PUBMED 17475390
REMARK GeneRIF: the purification and characterization of neutral
ceramidase from human ileostomy content, using
octanoyl-[(14)C]sphingosine as substrate
REFERENCE 5 (bases 1 to 2327)
AUTHORS Galadari,S., Wu,B.X., Mao,C., Roddy,P., El Bawab,S. and Hannun,Y.A.
TITLE Identification of a novel amidase motif in neutral ceramidase
JOURNAL Biochem. J. 393 (PT 3), 687-695 (2006)
PUBMED 16229686
REMARK GeneRIF: the present study identified a novel amidase sequence
containing a critical serine residue that may function as a
nucleophile in the hydrolytic attack on the amide bond present in
ceramide
REFERENCE 6 (bases 1 to 2327)
AUTHORS Hwang,Y.H., Tani,M., Nakagawa,T., Okino,N. and Ito,M.
TITLE Subcellular localization of human neutral ceramidase expressed in
HEK293 cells
JOURNAL Biochem. Biophys. Res. Commun. 331 (1), 37-42 (2005)
PUBMED 15845354
REMARK GeneRIF: Neutral ceramidase is localized mainly in plasma
membranes.
REFERENCE 7 (bases 1 to 2327)
AUTHORS Monick,M.M., Mallampalli,R.K., Bradford,M., McCoy,D., Gross,T.J.,
Flaherty,D.M., Powers,L.S., Cameron,K., Kelly,S., Merrill,A.H. Jr.
and Hunninghake,G.W.
TITLE Cooperative prosurvival activity by ERK and Akt in human alveolar
macrophages is dependent on high levels of acid ceramidase activity
JOURNAL J. Immunol. 173 (1), 123-135 (2004)
PUBMED 15210766
REMARK GeneRIF: Blocking acid ceramidase but not sphingosine kinase
activity in alveolar macrophages led to decreased ERK and Akt
activity and induction of cell death.
REFERENCE 8 (bases 1 to 2327)
AUTHORS Choi,M.S., Anderson,M.A., Zhang,Z., Zimonjic,D.B., Popescu,N. and
Mukherjee,A.B.
TITLE Neutral ceramidase gene: role in regulating ceramide-induced
apoptosis
JOURNAL Gene 315, 113-122 (2003)
PUBMED 14557071
REFERENCE 9 (bases 1 to 2327)
AUTHORS Mitsutake,S., Tani,M., Okino,N., Mori,K., Ichinose,S., Omori,A.,
Iida,H., Nakamura,T. and Ito,M.
TITLE Purification, characterization, molecular cloning, and subcellular
distribution of neutral ceramidase of rat kidney
JOURNAL J. Biol. Chem. 276 (28), 26249-26259 (2001)
PUBMED 11328816
REFERENCE 10 (bases 1 to 2327)
AUTHORS El Bawab,S., Roddy,P., Qian,T., Bielawska,A., Lemasters,J.J. and
Hannun,Y.A.
TITLE Molecular cloning and characterization of a human mitochondrial
ceramidase
JOURNAL J. Biol. Chem. 275 (28), 21508-21513 (2000)
PUBMED 10781606
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AF449759.2, BC107105.2 and BG289059.1.
Summary: Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze
hydrolysis of the N-acyl linkage of ceramide, a second messenger in
a variety of cellular events, to produce sphingosine. Sphingosine
exerts both mitogenic and apoptosis-inducing activities, and its
phosphorylated form functions as an intra- and intercellular second
messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed
11328816]).[supplied by OMIM, Mar 2008].
Transcript Variant: This variant (2) lacks an alternate in-frame
exon in the internal coding region, compared to variant 1. The
resulting isoform (b) is shorter, compared to isoform a.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
RNAseq introns :: mixed/partial sample support ERS025085
[ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-1227 AF449759.2 1-1227
1228-2241 BC107105.2 1171-2184
2242-2327 BG289059.1 399-484
FEATURES Location/Qualifiers
source 1..2327
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="10"
/map="10q11.21"
gene 1..2327
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/note="N-acylsphingosine amidohydrolase (non-lysosomal
ceramidase) 2"
/db_xref="GeneID:56624"
/db_xref="HGNC:18860"
/db_xref="MIM:611202"
CDS 1..2238
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/EC_number="3.5.1.23"
/note="isoform b is encoded by transcript variant 2;
mitochondrial ceramidase; neutral ceramidase;
non-lysosomal ceramidase; neutral/alkaline ceramidase;
N-acylsphingosine amidohydrolase 2; acylsphingosine
deacylase 2"
/codon_start=1
/product="neutral ceramidase isoform b"
/protein_id="NP_001137446.1"
/db_xref="GI:221307475"
/db_xref="CCDS:CCDS44398.1"
/db_xref="GeneID:56624"
/db_xref="HGNC:18860"
/db_xref="MIM:611202"
/translation="
MAKRTFSNLETFLIFLLVMMSAITVALLSLLFITSGTIENHKDLGGHFFSTTQSPPATQGSTAAQRSTATQHSTATQSSTATQTSPVPLTPESPLFQNFSGYHIGVGRADCTGQVADINLMGYGKSGQNAQGILTRLYSRAFIMAEPDGSNRTVFVSIDIGMVSQRLRLEVLNRLQSKYGSLYRRDNVILSGTHTHSGPAGYFQYTVFVIASEGFSNQTFQHMVTGILKSIDIAHTNMKPGKIFINKGNVDGVQINRSPYSYLQNPQSERARYSSNTDKEMIVLKMVDLNGDDLGLISWFAIHPVSMNNSNHLVNSDNVGYASYLLEQEKNKGYLPGQGPFVAAFASSNLGDVSPNILGPRCINTGESCDNANSTCPIGGPSMCIAKGPGQDMFDSTQIIGRAMYQRAKSKTCKPALGYSFAAGTIDGVGGLNFTQGKTEGDPFWDTIRDQILGKPSEEIKECHKPKPILLHTGELSKPHPWHPDIVDVQIITLGSLAITAIPGEFTTMSGRRLREAVQAEFASHGMQNMTVVISGLCNVYTHYITTYEEYQAQRYEAASTIYGPHTLSAYIQLFRNLAKAIATDTVANLSRGPEPPFFKQLIVPLIPSIVDRAPKGRTFGDVLQPAKPEYRVGEVAEVIFVGANPKNSVQNQTHQTFLTVEKYEATSTSWQIVCNDASWETRFYWHKGLLGLSNATVEWHIPDTAQPGIYRIRYFGHNRKQDILKPAVILSFEGTSPAFEVVTI
"
misc_feature 301..2226
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/note="Neutral/alkaline non-lysosomal ceramidase; Region:
Ceramidase_alk; pfam04734"
/db_xref="CDD:203079"
exon 1..127
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/inference="alignment:Splign:1.39.8"
variation complement(11)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="a"
/replace="g"
/db_xref="dbSNP:376205298"
variation complement(33)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="a"
/replace="g"
/db_xref="dbSNP:368446245"
variation complement(97)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="a"
/replace="g"
/db_xref="dbSNP:180822330"
variation complement(113)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="c"
/replace="t"
/db_xref="dbSNP:114108618"
exon 128..360
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/inference="alignment:Splign:1.39.8"
variation complement(144)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:192860010"
variation complement(151)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="a"
/replace="g"
/db_xref="dbSNP:7067625"
variation complement(153)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="c"
/replace="t"
/db_xref="dbSNP:188096471"
variation complement(174)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="a"
/replace="c"
/db_xref="dbSNP:374685598"
variation complement(179)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="c"
/replace="g"
/db_xref="dbSNP:142364715"
variation complement(189)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="c"
/replace="t"
/db_xref="dbSNP:7097319"
variation complement(190)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="a"
/replace="g"
/db_xref="dbSNP:146246912"
variation complement(196)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="c"
/replace="t"
/db_xref="dbSNP:141713369"
variation complement(203)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="c"
/replace="t"
/db_xref="dbSNP:370340088"
variation complement(205)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="a"
/replace="g"
/db_xref="dbSNP:377466392"
variation complement(235)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="c"
/replace="t"
/db_xref="dbSNP:80335014"
variation complement(237)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="c"
/replace="t"
/db_xref="dbSNP:139973487"
variation complement(238)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="a"
/replace="c"
/db_xref="dbSNP:199725527"
variation complement(247)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="c"
/replace="t"
/db_xref="dbSNP:116049719"
variation complement(253)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="c"
/replace="t"
/db_xref="dbSNP:149533805"
variation complement(254)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="c"
/replace="t"
/db_xref="dbSNP:137937721"
variation complement(285)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="a"
/replace="g"
/db_xref="dbSNP:201282742"
variation complement(302)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="a"
/replace="g"
/db_xref="dbSNP:114893748"
variation complement(305)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="a"
/replace="t"
/db_xref="dbSNP:142760278"
variation complement(340)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="c"
/replace="t"
/db_xref="dbSNP:138707510"
variation complement(348)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="a"
/replace="c"
/db_xref="dbSNP:113830248"
variation complement(349)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="g"
/replace="t"
/db_xref="dbSNP:200939187"
variation complement(355)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="a"
/replace="g"
/db_xref="dbSNP:370589870"
exon 361..510
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/inference="alignment:Splign:1.39.8"
variation complement(361)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="a"
/replace="g"
/db_xref="dbSNP:75185087"
variation complement(364)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="c"
/replace="g"
/db_xref="dbSNP:369748659"
variation complement(378)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="c"
/replace="t"
/db_xref="dbSNP:200181012"
variation complement(379)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="a"
/replace="g"
/db_xref="dbSNP:141919902"
variation complement(389)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="c"
/replace="t"
/db_xref="dbSNP:376438028"
variation complement(414)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="a"
/replace="c"
/db_xref="dbSNP:372400676"
variation complement(444)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="g"
/replace="t"
/db_xref="dbSNP:368904062"
variation complement(474)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="c"
/replace="t"
/db_xref="dbSNP:371356984"
variation complement(492)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="a"
/replace="c"
/db_xref="dbSNP:3739979"
variation complement(493)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="c"
/replace="g"
/db_xref="dbSNP:200406997"
variation complement(497)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="a"
/replace="g"
/db_xref="dbSNP:151087837"
exon 511..687
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/inference="alignment:Splign:1.39.8"
exon 688..815
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/inference="alignment:Splign:1.39.8"
variation complement(747)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="c"
/replace="t"
/db_xref="dbSNP:371623797"
variation complement(797)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="c"
/replace="t"
/db_xref="dbSNP:368163730"
variation complement(798)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="g"
/replace="t"
/db_xref="dbSNP:143842851"
exon 816..893
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/inference="alignment:Splign:1.39.8"
exon 894..1014
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/inference="alignment:Splign:1.39.8"
exon 1015..1140
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/inference="alignment:Splign:1.39.8"
variation complement(1121)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="a"
/replace="g"
/db_xref="dbSNP:374169293"
exon 1141..1227
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/inference="alignment:Splign:1.39.8"
exon 1228..1309
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/inference="alignment:Splign:1.39.8"
variation complement(1288)
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="a"
/replace="g"
/db_xref="dbSNP:201529348"
exon 1310..1425
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/inference="alignment:Splign:1.39.8"
exon 1426..1520
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/inference="alignment:Splign:1.39.8"
exon 1521..1560
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/inference="alignment:Splign:1.39.8"
exon 1561..1656
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/inference="alignment:Splign:1.39.8"
exon 1657..1752
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/inference="alignment:Splign:1.39.8"
exon 1753..1899
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/inference="alignment:Splign:1.39.8"
variation 1757
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="c"
/replace="t"
/db_xref="dbSNP:2813328"
variation 1841
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/replace="a"
/replace="g"
/db_xref="dbSNP:112227843"
exon 1900..1959
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/inference="alignment:Splign:1.39.8"
exon 1960..2048
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/inference="alignment:Splign:1.39.8"
STS 1969..2150
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/standard_name="ASAH2"
/db_xref="UniSTS:509968"
exon 2049..2313
/gene="ASAH2"
/gene_synonym="BCDase; HNAC1; LCDase; N-CDase; NCDase"
/inference="alignment:Splign:1.39.8"
ORIGIN
atggccaaacgcaccttctctaacttggagacattcctgattttcctccttgtaatgatgagtgccatcacagtggcccttctcagcctcttgtttatcaccagtgggaccattgaaaaccacaaagatttaggaggccattttttttcaaccacccaaagccctccagccacccagggctccacagctgcccaacgctccacagccacccagcattccacagccacccagagctccacagccactcaaacttctccagtgcctttaaccccagagtctcctctatttcagaacttcagtggctaccatattggtgttggacgagctgactgcacaggacaagtagcagatatcaatttgatgggctatggcaaatccggccagaatgcacagggcatcctcaccaggctatacagtcgtgccttcatcatggcagaacctgatgggtccaatcgaacagtgtttgtcagcatcgacataggcatggtatcacaaaggctcaggctggaggtcctgaacagactgcagagtaaatatggctccctgtacagaagagataatgtcatcctgagtggcactcacactcattcaggtcctgcaggatatttccagtataccgtgtttgtaattgccagtgaaggatttagcaatcaaacttttcagcacatggtcactggtatcttgaagagcattgacatagcacacacaaatatgaaaccaggcaaaatcttcatcaataaaggaaatgtggatggtgtgcagatcaacagaagtccgtattcttaccttcaaaatccgcagtcagagagagcaaggtattcttcaaatacagacaaggaaatgatagttttgaaaatggtagatttgaatggagatgacttgggccttatcagctggtttgccatccacccggtcagcatgaacaacagtaaccatcttgtaaacagtgacaatgtgggctatgcatcttacctgcttgagcaagagaagaacaaaggatatctacctggacaggggccatttgtagcagcctttgcttcatcaaacctaggagatgtgtcccccaacattcttggaccacgttgcatcaacacaggagagtcctgtgataacgccaatagcacttgtcccattggtgggcctagcatgtgcattgctaagggacctggacaggatatgtttgacagcacacaaattataggacgggccatgtatcagagagcaaagtcaaaaacatgtaaaccagcattgggctacagttttgcagctggcactattgatggagttggaggcctcaattttacacaggggaaaacagaaggggatccattttgggacaccattcgggaccagatcctgggaaagccatctgaagaaattaaagaatgtcataaaccaaagcccatccttcttcacaccggagaactatcaaaacctcacccctggcatccagacattgttgatgttcagattattacccttgggtccttggccataactgccatccccggggagtttacgaccatgtctggacgaagacttcgagaggcagttcaagcagaatttgcatctcatgggatgcagaacatgactgttgttatttcaggtctatgcaacgtctatacacattacattaccacttatgaagaataccaggctcagcgatatgaggcagcatcgacaatttatggaccgcacacattatctgcttacattcagctcttcagaaaccttgctaaggctattgctacggacacggtagccaacctgagcagaggtccagaacctccctttttcaaacaattaatagttccattaattcctagtattgtggatagagcaccaaaaggcagaactttcggggatgtcctgcagccagcaaaacctgaatacagagtgggggaagttgctgaagttatatttgtaggtgctaacccgaagaattcagtacaaaaccagacccatcagaccttcctcactgtggagaaatatgaggctacttcaacatcgtggcagatagtgtgtaatgatgcctcctgggagactcgtttttattggcacaagggactcctgggtctgagtaatgcaacagtggaatggcatattccagacactgcccagcctggaatctacagaataagatattttggacacaatcggaagcaggacattctgaagcctgctgtcatactttcatttgaaggcacttccccggcttttgaagttgtaactatttagtgaaaagttgatagatcatttaaagaacagctttactctctacacattatataagtgatttcaaatgaatgtgaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:56624 -> Molecular function: GO:0017040 [ceramidase activity] evidence: IEA
GeneID:56624 -> Biological process: GO:0006665 [sphingolipid metabolic process] evidence: TAS
GeneID:56624 -> Biological process: GO:0006672 [ceramide metabolic process] evidence: TAS
GeneID:56624 -> Biological process: GO:0006687 [glycosphingolipid metabolic process] evidence: TAS
GeneID:56624 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:56624 -> Biological process: GO:0007165 [signal transduction] evidence: TAS
GeneID:56624 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS
GeneID:56624 -> Cellular component: GO:0005739 [mitochondrion] evidence: TAS
GeneID:56624 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
GeneID:56624 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_001137446 -> EC 3.5.1.23
by
@meso_cacase at
DBCLS
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