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Protein

N-acetylneuraminate lyase

Gene

NPL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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. Involved in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded (By similarity).By similarity

Catalytic activityi

N-acetylneuraminate = N-acetyl-D-mannosamine + pyruvate.

Pathwayi: N-acetylneuraminate degradation

This protein is involved in the pathway N-acetylneuraminate degradation, which is part of Amino-sugar metabolism.1 Publication
View all proteins of this organism that are known to be involved in the pathway N-acetylneuraminate degradation and in Amino-sugar metabolism.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei143Involved in proton transfer during cleavageBy similarity1
Active sitei173Schiff-base intermediate with substrateBy similarity1

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • N-acetylneuraminate lyase activity Source: UniProtKB

GO - Biological processi

  • carbohydrate metabolic process Source: UniProtKB-KW
  • N-acetylneuraminate catabolic process Source: UniProtKB

Keywordsi

Molecular functionLyase
Biological processCarbohydrate metabolism
LigandSchiff base

Enzyme and pathway databases

BRENDAi4.1.3.3 2681
ReactomeiR-HSA-4085001 Sialic acid metabolism
UniPathwayiUPA00629

Names & Taxonomyi

Protein namesi
Recommended name:
N-acetylneuraminate lyase (EC:4.1.3.3)
Short name:
NALase
Alternative name(s):
N-acetylneuraminate pyruvate-lyase
N-acetylneuraminic acid aldolase
Sialate lyase
Sialate-pyruvate lyase
Sialic acid aldolase
Sialic acid lyase
Gene namesi
Name:NPL
Synonyms:C1orf13
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000135838.13
HGNCiHGNC:16781 NPL
MIMi611412 gene
neXtProtiNX_Q9BXD5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi80896
OpenTargetsiENSG00000135838
PharmGKBiPA25602

Polymorphism and mutation databases

BioMutaiNPL
DMDMi74752428

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002733521 – 320N-acetylneuraminate lyaseAdd BLAST320

Proteomic databases

MaxQBiQ9BXD5
PaxDbiQ9BXD5
PeptideAtlasiQ9BXD5
PRIDEiQ9BXD5
ProteomicsDBi79405
79406 [Q9BXD5-2]
79407 [Q9BXD5-3]
79408 [Q9BXD5-4]
79409 [Q9BXD5-5]

PTM databases

iPTMnetiQ9BXD5
PhosphoSitePlusiQ9BXD5

Expressioni

Tissue specificityi

Isoform 2 is expressed in placenta, liver, kidney, pancreas, spleen, thymus, ovary, small intestine and peripheral blood leukocyte.1 Publication

Gene expression databases

BgeeiENSG00000135838
CleanExiHS_NPL
ExpressionAtlasiQ9BXD5 baseline and differential
GenevisibleiQ9BXD5 HS

Organism-specific databases

HPAiHPA028345

Interactioni

Subunit structurei

Homotetramer.By similarity

Binary interactionsi

Show more details

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi123344, 5 interactors
IntActiQ9BXD5, 1 interactor
STRINGi9606.ENSP00000258317

Structurei

3D structure databases

ProteinModelPortaliQ9BXD5
SMRiQ9BXD5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni51 – 52Substrate bindingBy similarity2

Sequence similaritiesi

Belongs to the DapA family. NanA subfamily.Curated

Phylogenomic databases

eggNOGiENOG410IGJ4 Eukaryota
COG0329 LUCA
GeneTreeiENSGT00530000063604
HOGENOMiHOG000218206
HOVERGENiHBG082055
InParanoidiQ9BXD5
KOiK01639
OMAiSALNHQF
OrthoDBiEOG091G0AT4
PhylomeDBiQ9BXD5
TreeFamiTF353639

Family and domain databases

CDDicd00954 NAL, 1 hit
Gene3Di3.20.20.70, 1 hit
InterProiView protein in InterPro
IPR013785 Aldolase_TIM
IPR002220 DapA-like
IPR005264 NanA
PANTHERiPTHR12128 PTHR12128, 1 hit
PfamiView protein in Pfam
PF00701 DHDPS, 1 hit
PIRSFiPIRSF001365 DHDPS, 1 hit
PRINTSiPR00146 DHPICSNTHASE
SMARTiView protein in SMART
SM01130 DHDPS, 1 hit

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BXD5-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MAFPKKKLQG LVAATITPMT ENGEINFSVI GQYVDYLVKE QGVKNIFVNG
60 70 80 90 100
TTGEGLSLSV SERRQVAEEW VTKGKDKLDQ VIIHVGALSL KESQELAQHA
110 120 130 140 150
AEIGADGIAV IAPFFLKPWT KDILINFLKE VAAAAPALPF YYYHIPALTG
160 170 180 190 200
VKIRAEELLD GILDKIPTFQ GLKFSDTDLL DFGQCVDQNR QQQFAFLFGV
210 220 230 240 250
DEQLLSALVM GATGAVGSTY NYLGKKTNQM LEAFEQKDFS LALNYQFCIQ
260 270 280 290 300
RFINFVVKLG FGVSQTKAIM TLVSGIPMGP PRLPLQKASR EFTDSAEAKL
310 320
KSLDFLSFTD LKDGNLEAGS
Length:320
Mass (Da):35,163
Last modified:June 1, 2001 - v1
Checksum:iFC0EBA9B05FE9E62
GO
Isoform 2 (identifier: Q9BXD5-2) [UniParc]FASTAAdd to basket

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

Show »
Length:301
Mass (Da):33,117
Checksum:iD7168A22A2A7CD14
GO
Isoform 3 (identifier: Q9BXD5-3) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:284
Mass (Da):31,562
Checksum:i949BD9DA5FA2DB5C
GO
Isoform 4 (identifier: Q9BXD5-4) [UniParc]FASTAAdd to basket

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.
Show »
Length:240
Mass (Da):26,765
Checksum:i2DAC394E4ACB1943
GO
Isoform 5 (identifier: Q9BXD5-5) [UniParc]FASTAAdd to basket

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.
Show »
Length:109
Mass (Da):12,201
Checksum:i3FEC87DFA591B0E1
GO

Sequence cautioni

The sequence BC042003 differs from that shown. Reason: Frameshift at position 213.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti4P → S in BC034966 (PubMed:15489334).Curated1
Sequence conflicti98Q → E in BC042003 (PubMed:15489334).Curated1
Sequence conflicti212A → E in BC042003 (PubMed:15489334).Curated1
Sequence conflicti260G → V in BAG36036 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0225181 – 77MAFPK…KGKDK → MSRAPGILASWRRAPSLSVQ KGSQTARHTCHPEVPLGNCF LPVYKASPLTVTRLWAER in isoform 2. 1 PublicationAdd BLAST77
Alternative sequenceiVSP_02251978 – 109LDQVI…ADGIA → SNHHKLGTIRTTQSRQSSFR RQLKAWHSGSHL in isoform 5. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_022520110 – 320Missing in isoform 5. 1 PublicationAdd BLAST211
Alternative sequenceiVSP_022521203 – 246Missing in isoform 4. 1 PublicationAdd BLAST44
Alternative sequenceiVSP_022522260 – 320GFGVS…LEAGS → ENSKLKVSKNQRTLPLGTTN FPFLH in isoform 3 and isoform 4. 1 PublicationAdd BLAST61

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF338436 mRNA Translation: AAK25795.1
AY336748 mRNA Translation: AAQ82432.1
AK313225 mRNA Translation: BAG36036.1
AL355999 Genomic DNA No translation available.
AL513344 Genomic DNA No translation available.
BC034966 mRNA No translation available.
BC042003 mRNA No translation available.
BC058003 mRNA Translation: AAH58003.1
BC125051 mRNA Translation: AAI25052.1
CCDSiCCDS1350.1 [Q9BXD5-1]
CCDS55666.1 [Q9BXD5-4]
CCDS55667.1 [Q9BXD5-2]
RefSeqiNP_001186979.1, NM_001200050.1 [Q9BXD5-2]
NP_001186980.1, NM_001200051.1 [Q9BXD5-4]
NP_001186985.1, NM_001200056.1 [Q9BXD5-3]
NP_110396.1, NM_030769.2 [Q9BXD5-1]
UniGeneiHs.496969
Hs.731792

Genome annotation databases

EnsembliENST00000258317; ENSP00000258317; ENSG00000135838 [Q9BXD5-1]
ENST00000367552; ENSP00000356523; ENSG00000135838 [Q9BXD5-4]
ENST00000367553; ENSP00000356524; ENSG00000135838 [Q9BXD5-1]
ENST00000367554; ENSP00000356525; ENSG00000135838 [Q9BXD5-2]
ENST00000367555; ENSP00000356526; ENSG00000135838 [Q9BXD5-4]
GeneIDi80896
KEGGihsa:80896
UCSCiuc001gpo.2 human [Q9BXD5-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiNPL_HUMAN
AccessioniPrimary (citable) accession number: Q9BXD5
Secondary accession number(s): B2R839
, Q4G0Q8, Q4G0Z2, Q64L88, Q6PEL0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: June 1, 2001
Last modified: June 20, 2018
This is version 134 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. SIMILARITY comments
    Index of protein domains and families

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