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Protein

N-acetylneuraminate lyase

Gene

NPL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

  • carbohydrate metabolic process Source: UniProtKB-KW
  • N-acetylneuraminate catabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Lyase

Keywords - Biological processi

Carbohydrate metabolism

Keywords - Ligandi

Schiff base

Enzyme and pathway databases

BioCyciZFISH:HS13595-MONOMER.
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

HGNCiHGNC:16781. NPL.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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.

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

WithEntry#Exp.IntActNotes
itself3EBI-10287915,EBI-10287915
WDYHV1Q96HA83EBI-10287915,EBI-741158

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.
OMAiQEYSHEQ.
OrthoDBiEOG091G0AT4.
PhylomeDBiQ9BXD5.
TreeFamiTF353639.

Family and domain databases

CDDicd00954. NAL. 1 hit.
Gene3Di3.20.20.70. 1 hit.
InterProiIPR013785. Aldolase_TIM.
IPR002220. DapA-like.
IPR005264. NanA.
[Graphical view]
PANTHERiPTHR12128. PTHR12128. 1 hit.
PfamiPF00701. DHDPS. 1 hit.
[Graphical view]
PIRSFiPIRSF001365. DHDPS. 1 hit.
PRINTSiPR00146. DHPICSNTHASE.
SMARTiSM01130. DHDPS. 1 hit.
[Graphical view]

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, 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.
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

Cross-referencesi

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, 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.
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.

3D structure databases

ProteinModelPortaliQ9BXD5.
SMRiQ9BXD5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123344. 5 interactors.
IntActiQ9BXD5. 1 interactor.
STRINGi9606.ENSP00000258317.

PTM databases

iPTMnetiQ9BXD5.
PhosphoSitePlusiQ9BXD5.

Polymorphism and mutation databases

BioMutaiNPL.
DMDMi74752428.

Proteomic databases

MaxQBiQ9BXD5.
PaxDbiQ9BXD5.
PeptideAtlasiQ9BXD5.
PRIDEiQ9BXD5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi80896.
DisGeNETi80896.
GeneCardsiNPL.
HGNCiHGNC:16781. NPL.
HPAiHPA028345.
MIMi611412. gene.
neXtProtiNX_Q9BXD5.
OpenTargetsiENSG00000135838.
PharmGKBiPA25602.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

UniPathwayiUPA00629.
BioCyciZFISH:HS13595-MONOMER.
BRENDAi4.1.3.3. 2681.
ReactomeiR-HSA-4085001. Sialic acid metabolism.

Miscellaneous databases

ChiTaRSiNPL. human.
GenomeRNAii80896.
PROiQ9BXD5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000135838.
CleanExiHS_NPL.
ExpressionAtlasiQ9BXD5. baseline and differential.
GenevisibleiQ9BXD5. HS.

Family and domain databases

CDDicd00954. NAL. 1 hit.
Gene3Di3.20.20.70. 1 hit.
InterProiIPR013785. Aldolase_TIM.
IPR002220. DapA-like.
IPR005264. NanA.
[Graphical view]
PANTHERiPTHR12128. PTHR12128. 1 hit.
PfamiPF00701. DHDPS. 1 hit.
[Graphical view]
PIRSFiPIRSF001365. DHDPS. 1 hit.
PRINTSiPR00146. DHPICSNTHASE.
SMARTiSM01130. DHDPS. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNPL_HUMAN
AccessioniPrimary (citable) accession number: Q9BXD5
Secondary accession number(s): B2R839
, Q4G0Q8, Q4G0Z2, Q64L88, Q6PEL0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: June 1, 2001
Last modified: November 30, 2016
This is version 127 of the entry and version 1 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.