Q9BXD5 (NPL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
N-acetylneuraminate lyase
Short name=NALase
EC=4.1.3.3

Alternative name(s):
N-acetylneuraminate pyruvate-lyase
N-acetylneuraminic acid aldolase
Sialate lyase
Sialate-pyruvate lyase
Sialic acid aldolase
Sialic acid lyase

Gene names

Name:	NPL
Synonyms:	C1orf13

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	320 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Catalyzes the cleavage of N-acetylneuraminic acid (sialic acid) to form pyruvate and N-acetylmannosamine via a Schiff base intermediate. It prevents sialic acids from being recycled and returning to the cell surface By similarity.
Catalytic activity	N-acetylneuraminate = N-acetyl-D-mannosamine + pyruvate.
Pathway	Amino-sugar metabolism; N-acetylneuraminate degradation; D-fructose 6-phosphate from N-acetylneuraminate: step 1/5.
Subunit structure	Homotetramer By similarity.
Subcellular location	Cytoplasm By similarity.
Tissue specificity	Isoform 2 is expressed in placenta, liver, kidney, pancreas, spleen, thymus, ovary, small intestine and peripheral blood leukocyte. Ref.2
Sequence similarities	Belongs to the DHDPS family. NanA subfamily.
Sequence caution	The sequence BC042003 differs from that shown. Reason: Frameshift at position 213.

Ontologies

Keywords
Biological process	Carbohydrate metabolism
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing
Ligand	Schiff base
Molecular function	Lyase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	carbohydrate metabolic process Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	N-acetylneuraminate lyase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9BXD5-1)

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: Q9BXD5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-77: MAFPKKKLQG...EEWVTKGKDK → MSRAPGILAS...LTVTRLWAER

Isoform 3 (identifier: Q9BXD5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     260-320: GFGVSQTKAI...LKDGNLEAGS → ENSKLKVSKNQRTLPLGTTNFPFLH

Note: No experimental confirmation available.

Isoform 4 (identifier: Q9BXD5-4)

The sequence of this isoform differs from the canonical sequence as follows:
     203-246: Missing.
     260-320: GFGVSQTKAI...LKDGNLEAGS → ENSKLKVSKNQRTLPLGTTNFPFLH

Note: No experimental confirmation available.

Isoform 5 (identifier: Q9BXD5-5)

The sequence of this isoform differs from the canonical sequence as follows:
     78-109: LDQVIIHVGALSLKESQELAQHAAEIGADGIA → SNHHKLGTIRTTQSRQSSFRRQLKAWHSGSHL
     110-320: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 320	320	N-acetylneuraminate lyase		PRO_0000273352
Regions
	Region	51 – 52	2	Substrate binding By similarity
Sites
	Active site	173	1	Schiff-base intermediate with substrate By similarity
	Site	143	1	Involved in proton transfer during cleavage By similarity
Natural variations
	Alternative sequence	1 – 77	77	MAFPK…KGKDK → MSRAPGILASWRRAPSLSVQ KGSQTARHTCHPEVPLGNCF LPVYKASPLTVTRLWAER in isoform 2.		VSP_022518
	Alternative sequence	78 – 109	32	LDQVI…ADGIA → SNHHKLGTIRTTQSRQSSFR RQLKAWHSGSHL in isoform 5.		VSP_022519
	Alternative sequence	110 – 320	211	Missing in isoform 5.		VSP_022520
	Alternative sequence	203 – 246	44	Missing in isoform 4.		VSP_022521
	Alternative sequence	260 – 320	61	GFGVS…LEAGS → ENSKLKVSKNQRTLPLGTTN FPFLH in isoform 3 and isoform 4.		VSP_022522
Experimental info
	Sequence conflict	4	1	P → S in BC034966. Ref.5
	Sequence conflict	98	1	Q → E in BC042003. Ref.5
	Sequence conflict	212	1	A → E in BC042003. Ref.5
	Sequence conflict	260	1	G → V in BAG36036. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: FC0EBA9B05FE9E62	FASTA	320	35,163
	10 20 30 40 50 60 MAFPKKKLQG LVAATITPMT ENGEINFSVI GQYVDYLVKE QGVKNIFVNG TTGEGLSLSV 70 80 90 100 110 120 SERRQVAEEW VTKGKDKLDQ VIIHVGALSL KESQELAQHA AEIGADGIAV IAPFFLKPWT 130 140 150 160 170 180 KDILINFLKE VAAAAPALPF YYYHIPALTG VKIRAEELLD GILDKIPTFQ GLKFSDTDLL 190 200 210 220 230 240 DFGQCVDQNR QQQFAFLFGV DEQLLSALVM GATGAVGSTY NYLGKKTNQM LEAFEQKDFS 250 260 270 280 290 300 LALNYQFCIQ RFINFVVKLG FGVSQTKAIM TLVSGIPMGP PRLPLQKASR EFTDSAEAKL 310 320 KSLDFLSFTD LKDGNLEAGS
	Isoform 2 [UniParc]. Checksum: D7168A22A2A7CD14	FASTA	301	33,117
	10 20 30 40 50 60 MSRAPGILAS WRRAPSLSVQ KGSQTARHTC HPEVPLGNCF LPVYKASPLT VTRLWAERLD 70 80 90 100 110 120 QVIIHVGALS LKESQELAQH AAEIGADGIA VIAPFFLKPW TKDILINFLK EVAAAAPALP 130 140 150 160 170 180 FYYYHIPALT GVKIRAEELL DGILDKIPTF QGLKFSDTDL LDFGQCVDQN RQQQFAFLFG 190 200 210 220 230 240 VDEQLLSALV MGATGAVGST YNYLGKKTNQ MLEAFEQKDF SLALNYQFCI QRFINFVVKL 250 260 270 280 290 300 GFGVSQTKAI MTLVSGIPMG PPRLPLQKAS REFTDSAEAK LKSLDFLSFT DLKDGNLEAG S
	Isoform 3 [UniParc]. Checksum: 949BD9DA5FA2DB5C	FASTA	284	31,562
	10 20 30 40 50 60 MAFPKKKLQG LVAATITPMT ENGEINFSVI GQYVDYLVKE QGVKNIFVNG TTGEGLSLSV 70 80 90 100 110 120 SERRQVAEEW VTKGKDKLDQ VIIHVGALSL KESQELAQHA AEIGADGIAV IAPFFLKPWT 130 140 150 160 170 180 KDILINFLKE VAAAAPALPF YYYHIPALTG VKIRAEELLD GILDKIPTFQ GLKFSDTDLL 190 200 210 220 230 240 DFGQCVDQNR QQQFAFLFGV DEQLLSALVM GATGAVGSTY NYLGKKTNQM LEAFEQKDFS 250 260 270 280 LALNYQFCIQ RFINFVVKLE NSKLKVSKNQ RTLPLGTTNF PFLH
	Isoform 4 [UniParc]. Checksum: 2DAC394E4ACB1943	FASTA	240	26,765
	10 20 30 40 50 60 MAFPKKKLQG LVAATITPMT ENGEINFSVI GQYVDYLVKE QGVKNIFVNG TTGEGLSLSV 70 80 90 100 110 120 SERRQVAEEW VTKGKDKLDQ VIIHVGALSL KESQELAQHA AEIGADGIAV IAPFFLKPWT 130 140 150 160 170 180 KDILINFLKE VAAAAPALPF YYYHIPALTG VKIRAEELLD GILDKIPTFQ GLKFSDTDLL 190 200 210 220 230 240 DFGQCVDQNR QQQFAFLFGV DEFCIQRFIN FVVKLENSKL KVSKNQRTLP LGTTNFPFLH
	Isoform 5 [UniParc]. Checksum: 3FEC87DFA591B0E1	FASTA	109	12,201
	10 20 30 40 50 60 MAFPKKKLQG LVAATITPMT ENGEINFSVI GQYVDYLVKE QGVKNIFVNG TTGEGLSLSV 70 80 90 100 SERRQVAEEW VTKGKDKSNH HKLGTIRTTQ SRQSSFRRQL KAWHSGSHL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus." Sood R., Bonner T.I., Malakowska I., Stephan D.A., Robbins C.M., Connors T.D., Morgenbesser S.D., Su K., Faruque M.U., Pinkett H., Graham C., Baxevanis A.D., Klinger K.W., Landes G.M., Trent J.M., Carpten J.D. Genomics 73:211-222(2001) [PubMed: 11318611] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"A novel splice variant of human gene NPL, mainly expressed in human liver, kidney and peripheral blood leukocyte." Wu M., Gu S., Xu J., Zou X., Zheng H., Jin Z., Xie Y., Ji C., Mao Y. DNA Seq. 16:137-142(2005) [PubMed: 16147865] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Teratocarcinoma.
[4]	"The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R. Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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] (ISOFORMS 1; 3; 4 AND 5). Tissue: Hypothalamus, Kidney and Testis.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF338436 mRNA. Translation: AAK25795.1. AY336748 mRNA. Translation: AAQ82432.1. AK313225 mRNA. Translation: BAG36036.1. AL355999, AL513344 Genomic DNA. Translation: CAH71702.1. AL355999, AL513344 Genomic DNA. Translation: CAH71703.1. AL513344, AL355999 Genomic DNA. Translation: CAI16502.1. AL513344, AL355999 Genomic DNA. Translation: CAI16503.1. BC034966 mRNA. No translation available. BC042003 mRNA. No translation available. BC058003 mRNA. Translation: AAH58003.1. BC125051 mRNA. Translation: AAI25052.1.
IPI	IPI00006165. IPI00447505. IPI00470729. IPI00640193. IPI00827873.
RefSeq	NP_001186979.1. NM_001200050.1. NP_001186980.1. NM_001200051.1. NP_001186985.1. NM_001200056.1. NP_110396.1. NM_030769.2.
UniGene	Hs.496969.
3D structure databases
ProteinModelPortal	Q9BXD5.
SMR	Q9BXD5. Positions 5-307.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9BXD5.
PTM databases
PhosphoSite	Q9BXD5.
Polymorphism databases
DMDM	74752428.
Proteomic databases
PRIDE	Q9BXD5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000258317; ENSP00000258317; ENSG00000135838. ENST00000367553; ENSP00000356524; ENSG00000135838.
GeneID	80896.
KEGG	hsa:80896.
NMPDR	fig|9606.3.peg.2736.
UCSC	uc001gpo.1. human. uc001gpp.2. human. uc001gpq.1. human. uc009wyc.1. human.
Organism-specific databases
CTD	80896.
GeneCards	GC01P182758.
H-InvDB	HIX0028599. HIX0149309.
HGNC	HGNC:16781. NPL.
HPA	HPA028345.
MIM	611412. gene.
neXtProt	NX_Q9BXD5.
PharmGKB	PA25602.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG08589.
GeneTree	ENSGT00530000063604.
HOGENOM	HBG714619.
HOVERGEN	HBG082055.
InParanoid	Q9BXD5.
OMA	DHVIIHV.
PhylomeDB	Q9BXD5.
Gene expression databases
ArrayExpress	Q9BXD5.
Bgee	Q9BXD5.
CleanEx	HS_NPL.
Genevestigator	Q9BXD5.
Family and domain databases
InterPro	IPR013785. Aldolase_TIM. IPR002220. Dihydrodipicolinate_synth-like. [Graphical view]
Gene3D	G3DSA:3.20.20.70. Aldolase_TIM. 1 hit.
KO	K01639.
PANTHER	PTHR12128. DHDPS. 1 hit.
Pfam	PF00701. DHDPS. 1 hit. [Graphical view]
PIRSF	PIRSF001365. DHDPS. 1 hit.
PRINTS	PR00146. DHPICSNTHASE.
PROSITE	PS00665. DHDPS_1. False negative. PS00666. DHDPS_2. False negative. [Graphical view]
ProtoNet	Search...
Other
NextBio	71336.
SOURCE	Search...

Entry information

Entry name

NPL_HUMAN

Accession

Primary (citable) accession number: Q9BXD5
Secondary accession number(s): B2R839 , Q4G0Q8, Q4G0Z2, Q64L88, Q6PEL0

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 23, 2007
Last sequence update:	June 1, 2001
Last modified:	January 25, 2012
This is version 80 of the entry and version 1 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.