Q02083 (NAAA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
N-acylethanolamine-hydrolyzing acid amidase
EC=3.5.1.-

Alternative name(s):
Acid ceramidase-like protein
N-acylsphingosine amidohydrolase-like
Short name=ASAH-like protein

Gene names

Name:	NAAA
Synonyms:	ASAHL, PLT

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	359 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Degrades bioactive fatty acid amides to their corresponding acids, with the following preference: N-palmitoylethanolamine > N-myristoylethanolamine > N-lauroylethanolamine = N-stearoylethanolamine > N-arachidonoylethanolamine > N-oleoylethanolamine. Also exhibits weak hydrolytic activity against the ceramides N-lauroylsphingosine and N-palmitoylsphingosine. Ref.2
Enzyme regulation	Stimulated by DTT and Nonidet P-40. Ref.2
Subcellular location	Lysosome Probable Ref.1 Ref.2.
Tissue specificity	Expressed in numerous tissues, with highest levels in liver and kidney, followed by pancreas. Ref.1
Post-translational modification	N-glycosylated. Tunicamycin treatment causes a reduction in specific activity against N-palmitoylethanolamine. Ref.2 Ref.5
Sequence similarities	Belongs to the acid ceramidase family.
Biophysicochemical properties	Kinetic parameters: KM=97 µM for N-palmitoylethanolamine Ref.2 pH dependence: Optimum pH is 4.5 with N-palmitoylethanolamine as substrate.

Ontologies

Keywords
Cellular component	Lysosome
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal
Molecular function	Hydrolase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	lipid metabolic process Inferred from electronic annotation. Source: InterPro
Cellular component	lysosome Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	hydrolase activity Inferred from electronic annotation. Source: UniProtKB-KW transcription factor binding Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q02083-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q02083-2)

The sequence of this isoform differs from the canonical sequence as follows:
     324-359: Missing.

Isoform 3 (identifier: Q02083-3)

The sequence of this isoform differs from the canonical sequence as follows:
     198-199: KG → PE
     200-359: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 28	28	Potential
	Chain	29 – 359	331	N-acylethanolamine-hydrolyzing acid amidase		PRO_0000002318
Amino acid modifications
	Glycosylation	37	1	N-linked (GlcNAc...) Ref.5
	Glycosylation	107	1	N-linked (GlcNAc...) Potential
	Glycosylation	309	1	N-linked (GlcNAc...) Potential
	Glycosylation	315	1	N-linked (GlcNAc...) Potential
	Glycosylation	333	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	198 – 199	2	KG → PE in isoform 3.		VSP_000328
	Alternative sequence	200 – 359	160	Missing in isoform 3.		VSP_000329
	Alternative sequence	324 – 359	36	Missing in isoform 2.		VSP_000330
	Natural variant	107	1	N → K. Corresponds to variant rs34751328 [ dbSNP | Ensembl ].		VAR_048336
	Natural variant	151	1	V → I. Corresponds to variant rs4859571 [ dbSNP | Ensembl ].		VAR_028428
	Natural variant	334	1	F → L. Corresponds to variant rs6823734 [ dbSNP | Ensembl ].		VAR_048337
Experimental info
	Sequence conflict	147	1	P → A in AAA60119. Ref.4
	Sequence conflict	240	1	T → S in AAA60119. Ref.4
	Sequence conflict	250	1	V → L in AAA60119. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 17, 2006. Version 3. Checksum: A8E214DB383B872A	FASTA	359	40,066
	10 20 30 40 50 60 MRTADREARP GLPSLLLLLL AGAGLSAASP PAAPRFNVSL DSVPELRWLP VLRHYDLDLV 70 80 90 100 110 120 RAAMAQVIGD RVPKWVHVLI GKVVLELERF LPQPFTGEIR GMCDFMNLSL ADCLLVNLAY 130 140 150 160 170 180 ESSVFCTSIV AQDSRGHIYH GRNLDYPFGN VLRKLTVDVQ FLKNGQIAFT GTTFIGYVGL 190 200 210 220 230 240 WTGQSPHKFT VSGDERDKGW WWENAIAALF RRHIPVSWLI RATLSESENF EAAVGKLAKT 250 260 270 280 290 300 PLIADVYYIV GGTSPREGVV ITRNRDGPAD IWPLDPLNGA WFRVETNYDH WKPAPKEDDR 310 320 330 340 350 RTSAIKALNA TGQANLSLEA LFQILSVVPV YNNFTIYTTV MSAGSPDKYM TRIRNPSRK
	Isoform 2 [UniParc]. Checksum: 453B1D0E4B99AA90	FASTA	323	35,963
	10 20 30 40 50 60 MRTADREARP GLPSLLLLLL AGAGLSAASP PAAPRFNVSL DSVPELRWLP VLRHYDLDLV 70 80 90 100 110 120 RAAMAQVIGD RVPKWVHVLI GKVVLELERF LPQPFTGEIR GMCDFMNLSL ADCLLVNLAY 130 140 150 160 170 180 ESSVFCTSIV AQDSRGHIYH GRNLDYPFGN VLRKLTVDVQ FLKNGQIAFT GTTFIGYVGL 190 200 210 220 230 240 WTGQSPHKFT VSGDERDKGW WWENAIAALF RRHIPVSWLI RATLSESENF EAAVGKLAKT 250 260 270 280 290 300 PLIADVYYIV GGTSPREGVV ITRNRDGPAD IWPLDPLNGA WFRVETNYDH WKPAPKEDDR 310 320 RTSAIKALNA TGQANLSLEA LFQ
	Isoform 3 [UniParc]. Checksum: C35E612CFC738971	FASTA	199	22,020
	10 20 30 40 50 60 MRTADREARP GLPSLLLLLL AGAGLSAASP PAAPRFNVSL DSVPELRWLP VLRHYDLDLV 70 80 90 100 110 120 RAAMAQVIGD RVPKWVHVLI GKVVLELERF LPQPFTGEIR GMCDFMNLSL ADCLLVNLAY 130 140 150 160 170 180 ESSVFCTSIV AQDSRGHIYH GRNLDYPFGN VLRKLTVDVQ FLKNGQIAFT GTTFIGYVGL 190 WTGQSPHKFT VSGDERDPE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning and characterization of a human cDNA and gene encoding a novel acid ceramidase-like protein." Hong S.-B., Li C.-M., Rhee H.-J., Park J.-H., He X., Levy B., Yoo O.J., Schuchman E.H. Genomics 62:232-241(1999) [PubMed: 10610717] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, SUBCELLULAR LOCATION. Tissue: Placenta.
[2]	"Molecular characterization of N-acylethanolamine-hydrolyzing acid amidase, a novel member of the choloylglycine hydrolase family with structural and functional similarity to acid ceramidase." Tsuboi K., Sun Y.-X., Okamoto Y., Araki N., Tonai T., Ueda N. J. Biol. Chem. 280:11082-11092(2005) [PubMed: 15655246] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, ENZYME REGULATION, BIOPHYSICOCHEMICAL PROPERTIES, SUBCELLULAR LOCATION, GLYCOSYLATION.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Muscle.
[4]	"A human endogenous long terminal repeat provides a polyadenylation signal to a novel, alternatively spliced transcript in normal placenta." Goodchild N.L., Wilkinson D.A., Mager D.L. Gene 121:287-294(1992) [PubMed: 1446826] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 81-359 (ISOFORM 2). Tissue: Placenta.
[5]	"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed: 19159218] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-37, MASS SPECTROMETRY. Tissue: Liver.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB161353 mRNA. Translation: BAD88528.1. BC006388 mRNA. Translation: AAH06388.2. BC011854 mRNA. No translation available. M92449 mRNA. Translation: AAA60119.1.
IPI	IPI00024083. IPI00028879. IPI00215844.
RefSeq	NP_001035861.1. NM_001042402.1. NP_055250.2. NM_014435.3.
UniGene	Hs.437365.
3D structure databases
ProteinModelPortal	Q02083.
ModBase	Search...
Protein-protein interaction databases
STRING	Q02083.
Protein family/group databases
MEROPS	C89.002.
Polymorphism databases
DMDM	116241258.
Proteomic databases
PRIDE	Q02083.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000286733; ENSP00000286733; ENSG00000138744.
GeneID	27163.
KEGG	hsa:27163.
NMPDR	fig|9606.3.peg.24272.
UCSC	uc003hja.1. human. uc003hjb.1. human. uc010iiz.1. human.
Organism-specific databases
CTD	27163.
GeneCards	GC04M076831.
H-InvDB	HIX0021970.
HGNC	HGNC:736. NAAA.
HPA	CAB026135.
MIM	607469. gene.
neXtProt	NX_Q02083.
PharmGKB	PA162396672.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG14681.
GeneTree	ENSGT00530000063548.
HOGENOM	HBG561443.
HOVERGEN	HBG050586.
InParanoid	Q02083.
OMA	RWLPVLR.
OrthoDB	EOG46MBK4.
PhylomeDB	Q02083.
Gene expression databases
ArrayExpress	Q02083.
Bgee	Q02083.
CleanEx	HS_NAAA.
Genevestigator	Q02083.
GermOnline	ENSG00000138744. Homo sapiens.
Family and domain databases
InterPro	IPR016699. Acid_ceramidase-like. IPR003199. Chologlycine_hydro. [Graphical view]
KO	K13720.
Pfam	PF02275. CBAH. 1 hit. [Graphical view]
PIRSF	PIRSF017632. Acid_ceramidase-like. 1 hit.
ProtoNet	Search...
Other
NextBio	49950.
SOURCE	Search...

Entry information

Entry name

NAAA_HUMAN

Accession

Primary (citable) accession number: Q02083
Secondary accession number(s): Q5KTF2, Q96EY2, Q9BRA8

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
Last sequence update:	October 17, 2006
Last modified:	January 25, 2012
This is version 103 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.