ASAHL

ASAHL
Identifikatori
Aliasi	NAAA
Vanjski ID-jevi	OMIM: 607469 MGI: 1914361 HomoloGene: 8686 GeneCards: NAAA
Lokacija gena (čovjek)
Hrom.	Hromosom 4 (čovjek)
Kraj	75,941,013 bp
Lokacija gena (miš)
Hrom.	Hromosom 5 (miš)
Kraj	92,426,029 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• transcription factor binding; • hydrolase activity; • hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds; • GO:0103073, GO:0102077 fatty acid amide hydrolase activity;
Ćelijska komponenta	• citoplazma; • Lizozom; • Egzosom; • lysosomal lumen; • presynapse; • extrinsic component of membrane; • membrana;
Biološki proces	• lipid metabolism; • GO:0010554 neurotransmitter secretion; • GO:0022610 biološki proces; • fatty acid metabolic process; • N-acylethanolamine metabolic process; • lipid catabolic process;
	Izvori:Amigo / QuickGO
Ortolozi
	27163
	67111
	ENSG00000138744
	ENSMUSG00000029413
	Q02083
	Q9D7V9
	NM_001042402; NM_014435; NM_001363719
	NM_001163687; NM_025972
	NP_001035861; NP_055250; NP_001350648
	NP_001157159; NP_080248
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

N-aciletanolamin-hidrolizirajuća kisela amidaza jest enzim koji je kod ljudi kodiran genom NAAA sa hromosoma 4.^[5]^[6]^[7]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 359 aminokiselina, а molekulska težina 40.066 Da.^[8]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MRTADREARP	GLPSLLLLLL	AGAGLSAASP	PAAPRFNVSL	DSVPELRWLP
VLRHYDLDLV	RAAMAQVIGD	RVPKWVHVLI	GKVVLELERF	LPQPFTGEIR
GMCDFMNLSL	ADCLLVNLAY	ESSVFCTSIV	AQDSRGHIYH	GRNLDYPFGN
VLRKLTVDVQ	FLKNGQIAFT	GTTFIGYVGL	WTGQSPHKFT	VSGDERDKGW
WWENAIAALF	RRHIPVSWLI	RATLSESENF	EAAVGKLAKT	PLIADVYYIV
GGTSPREGVV	ITRNRDGPAD	IWPLDPLNGA	WFRVETNYDH	WKPAPKEDDR
RTSAIKALNA	TGQANLSLEA	LFQILSVVPV	YNNFTIYTTV	MSAGSPDKYM
TRIRNPSRK

Funkcija

Ovaj gen kodira enzim N-aciletanolamin-hidrolaza koji je veoma sličan kiseloj keramidazi. Za ovaj gen pronađene su višestruke varijante transkripta koje kodiraju različite izoforme.^[7]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000138744 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029413 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Hong SB, Li CM, Rhee HJ, Park JH, He X, Levy B, Yoo OJ, Schuchman EH (Feb 2000). "Molecular cloning and characterization of a human cDNA and gene encoding a novel acid ceramidase-like protein". Genomics. 62 (2): 232–41. doi:10.1006/geno.1999.5953. PMID 10610717.
^ Goodchild NL, Wilkinson DA, Mager DL (Dec 1992). "A human endogenous long terminal repeat provides a polyadenylation signal to a novel, alternatively spliced transcript in normal placenta". Gene. 121 (2): 287–94. doi:10.1016/0378-1119(92)90133-A. PMID 1446826.
^ ^a ^b "Entrez Gene: ASAHL N-acylsphingosine amidohydrolase (acid ceramidase)-like".
^ "UniProt, Q02083" (jezik: англ.). Pristupljeno 22. 10. 2021.CS1 održavanje: nepoznati jezik (link)

Dopunska literatura

Schulze H, Schepers U, Sandhoff K (2008). "Overexpression and mass spectrometry analysis of mature human acid ceramidase". Biol. Chem. 388 (12): 1333–43. doi:10.1515/BC.2007.152. PMID 18020949. S2CID 12612022.
Zhao LY, Tsuboi K, Okamoto Y, et al. (2008). "Proteolytic activation and glycosylation of N-acylethanolamine-hydrolyzing acid amidase, a lysosomal enzyme involved in the endocannabinoid metabolism". Biochim. Biophys. Acta. 1771 (11): 1397–405. doi:10.1016/j.bbalip.2007.10.002. PMID 17980170.
Oh JH, Yang JO, Hahn Y, et al. (2006). "Transcriptome analysis of human gastric cancer". Mamm. Genome. 16 (12): 942–54. doi:10.1007/s00335-005-0075-2. PMID 16341674. S2CID 69278.
Tsuboi K, Sun YX, Okamoto Y, et al. (2005). "Molecular characterization of N-acylethanolamine-hydrolyzing acid amidase, a novel member of the choloylglycine hydrolase family with structural and functional similarity to acid ceramidase". J. Biol. Chem. 280 (12): 11082–92. doi:10.1074/jbc.M413473200. PMID 15655246.
Huang Y, Tanimukai H, Liu F, et al. (2005). "Elevation of the level and activity of acid ceramidase in Alzheimer's disease brain". Eur. J. Neurosci. 20 (12): 3489–97. doi:10.1111/j.1460-9568.2004.03852.x. PMID 15610181. S2CID 11515970.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.

Vanjski linkovi

Lokacija ljudskog genoma NAAA i stranica sa detaljima o genu NAAA u UCSC Genome Browseru.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000138744 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000029413 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10610717-5] Hong SB, Li CM, Rhee HJ, Park JH, He X, Levy B, Yoo OJ, Schuchman EH (Feb 2000). "Molecular cloning and characterization of a human cDNA and gene encoding a novel acid ceramidase-like protein". Genomics. 62 (2): 232–41. doi:10.1006/geno.1999.5953. PMID 10610717.

[pmid1446826-6] Goodchild NL, Wilkinson DA, Mager DL (Dec 1992). "A human endogenous long terminal repeat provides a polyadenylation signal to a novel, alternatively spliced transcript in normal placenta". Gene. 121 (2): 287–94. doi:10.1016/0378-1119(92)90133-A. PMID 1446826.

[entrez-7] "Entrez Gene: ASAHL N-acylsphingosine amidohydrolase (acid ceramidase)-like".

[UniProt-8] "UniProt, Q02083" (jezik: англ.). Pristupljeno 22. 10. 2021.CS1 održavanje: nepoznati jezik (link)

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