UniProtKB - Q9BXD5 (NPL_HUMAN)
Protein
N-acetylneuraminate lyase
Gene
NPL
Organism
Homo sapiens (Human)
Status
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
- EC:4.1.3.3
: N-acetylneuraminate degradation Pathwayi
This protein is involved in the pathway N-acetylneuraminate degradation, which is part of Amino-sugar metabolism.1 PublicationView all proteins of this organism that are known to be involved in the pathway N-acetylneuraminate degradation and in Amino-sugar metabolism.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 143 | Involved in proton transfer during cleavageBy similarity | 1 | |
Active sitei | 173 | Schiff-base intermediate with substrateBy similarity | 1 |
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 function | Lyase |
Biological process | Carbohydrate metabolism |
Ligand | Schiff base |
Enzyme and pathway databases
BRENDAi | 4.1.3.3, 2681 |
PathwayCommonsi | Q9BXD5 |
Reactomei | R-HSA-4085001, Sialic acid metabolism |
UniPathwayi | UPA00629 |
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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000135838.13 |
HGNCi | HGNC:16781, NPL |
MIMi | 611412, gene |
neXtProti | NX_Q9BXD5 |
Subcellular locationi
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Organism-specific databases
DisGeNETi | 80896 |
OpenTargetsi | ENSG00000135838 |
PharmGKBi | PA25602 |
Miscellaneous databases
Pharosi | Q9BXD5, Tbio |
Polymorphism and mutation databases
BioMutai | NPL |
DMDMi | 74752428 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000273352 | 1 – 320 | N-acetylneuraminate lyaseAdd BLAST | 320 |
Proteomic databases
jPOSTi | Q9BXD5 |
MassIVEi | Q9BXD5 |
MaxQBi | Q9BXD5 |
PaxDbi | Q9BXD5 |
PeptideAtlasi | Q9BXD5 |
PRIDEi | Q9BXD5 |
ProteomicsDBi | 79405 [Q9BXD5-1] 79406 [Q9BXD5-2] 79407 [Q9BXD5-3] 79408 [Q9BXD5-4] 79409 [Q9BXD5-5] |
PTM databases
iPTMneti | Q9BXD5 |
PhosphoSitePlusi | Q9BXD5 |
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
Bgeei | ENSG00000135838, Expressed in monocyte and 203 other tissues |
ExpressionAtlasi | Q9BXD5, baseline and differential |
Genevisiblei | Q9BXD5, HS |
Organism-specific databases
HPAi | ENSG00000135838, Tissue enhanced (blood) |
Interactioni
Subunit structurei
Homotetramer.
By similarityBinary interactionsi
Hide detailsQ9BXD5
With | #Exp. | IntAct |
---|---|---|
itself | 4 | EBI-10287915,EBI-10287915 |
NTAQ1 [Q96HA8] | 3 | EBI-10287915,EBI-741158 |
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 123344, 6 interactors |
IntActi | Q9BXD5, 2 interactors |
STRINGi | 9606.ENSP00000258317 |
Miscellaneous databases
RNActi | Q9BXD5, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q9BXD5 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 51 – 52 | Substrate bindingBy similarity | 2 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | ENOG502QQA3, Eukaryota |
GeneTreei | ENSGT00530000063604 |
HOGENOMi | CLU_924263_0_0_1 |
InParanoidi | Q9BXD5 |
OMAi | FTGHEVV |
OrthoDBi | 1238597at2759 |
PhylomeDBi | Q9BXD5 |
TreeFami | TF353639 |
Family and domain databases
CDDi | cd00954, NAL, 1 hit |
Gene3Di | 3.20.20.70, 1 hit |
InterProi | View protein in InterPro IPR013785, Aldolase_TIM IPR002220, DapA-like IPR005264, NanA |
PANTHERi | PTHR12128, PTHR12128, 1 hit |
Pfami | View protein in Pfam PF00701, DHDPS, 1 hit |
PIRSFi | PIRSF001365, DHDPS, 1 hit |
PRINTSi | PR00146, DHPICSNTHASE |
SMARTi | View protein in SMART SM01130, DHDPS, 1 hit |
s (5+)i Sequence
Sequence statusi: Complete.
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9BXD5-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
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: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A087WZ70 | A0A087WZ70_HUMAN | N-acetylneuraminate lyase | NPL | 230 | Annotation score: |
Sequence cautioni
The sequence BC042003 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 4 | P → S in BC034966 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 98 | Q → E in BC042003 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 212 | A → E in BC042003 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 260 | G → V in BAG36036 (PubMed:14702039).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_022518 | 1 – 77 | MAFPK…KGKDK → MSRAPGILASWRRAPSLSVQ KGSQTARHTCHPEVPLGNCF LPVYKASPLTVTRLWAER in isoform 2. 1 PublicationAdd BLAST | 77 | |
Alternative sequenceiVSP_022519 | 78 – 109 | LDQVI…ADGIA → SNHHKLGTIRTTQSRQSSFR RQLKAWHSGSHL in isoform 5. 1 PublicationAdd BLAST | 32 | |
Alternative sequenceiVSP_022520 | 110 – 320 | Missing in isoform 5. 1 PublicationAdd BLAST | 211 | |
Alternative sequenceiVSP_022521 | 203 – 246 | Missing in isoform 4. 1 PublicationAdd BLAST | 44 | |
Alternative sequenceiVSP_022522 | 260 – 320 | GFGVS…LEAGS → ENSKLKVSKNQRTLPLGTTN FPFLH in isoform 3 and isoform 4. 1 PublicationAdd BLAST | 61 |
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 |
CCDSi | CCDS1350.1 [Q9BXD5-1] CCDS55666.1 [Q9BXD5-4] CCDS55667.1 [Q9BXD5-2] |
RefSeqi | NP_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] |
Genome annotation databases
Ensembli | ENST00000258317; ENSP00000258317; ENSG00000135838 [Q9BXD5-1] ENST00000367552; ENSP00000356523; ENSG00000135838 [Q9BXD5-4] ENST00000367553; ENSP00000356524; ENSG00000135838 [Q9BXD5-1] ENST00000367554; ENSP00000356525; ENSG00000135838 [Q9BXD5-2] ENST00000367555; ENSP00000356526; ENSG00000135838 [Q9BXD5-4] |
GeneIDi | 80896 |
KEGGi | hsa:80896 |
UCSCi | uc001gpo.2, human [Q9BXD5-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 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 |
CCDSi | CCDS1350.1 [Q9BXD5-1] CCDS55666.1 [Q9BXD5-4] CCDS55667.1 [Q9BXD5-2] |
RefSeqi | NP_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] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6ARH | X-ray | 1.60 | A/B/C/D | 1-320 | [»] | |
SMRi | Q9BXD5 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 123344, 6 interactors |
IntActi | Q9BXD5, 2 interactors |
STRINGi | 9606.ENSP00000258317 |
PTM databases
iPTMneti | Q9BXD5 |
PhosphoSitePlusi | Q9BXD5 |
Polymorphism and mutation databases
BioMutai | NPL |
DMDMi | 74752428 |
Proteomic databases
jPOSTi | Q9BXD5 |
MassIVEi | Q9BXD5 |
MaxQBi | Q9BXD5 |
PaxDbi | Q9BXD5 |
PeptideAtlasi | Q9BXD5 |
PRIDEi | Q9BXD5 |
ProteomicsDBi | 79405 [Q9BXD5-1] 79406 [Q9BXD5-2] 79407 [Q9BXD5-3] 79408 [Q9BXD5-4] 79409 [Q9BXD5-5] |
Protocols and materials databases
Antibodypediai | 34441, 119 antibodies |
Genome annotation databases
Ensembli | ENST00000258317; ENSP00000258317; ENSG00000135838 [Q9BXD5-1] ENST00000367552; ENSP00000356523; ENSG00000135838 [Q9BXD5-4] ENST00000367553; ENSP00000356524; ENSG00000135838 [Q9BXD5-1] ENST00000367554; ENSP00000356525; ENSG00000135838 [Q9BXD5-2] ENST00000367555; ENSP00000356526; ENSG00000135838 [Q9BXD5-4] |
GeneIDi | 80896 |
KEGGi | hsa:80896 |
UCSCi | uc001gpo.2, human [Q9BXD5-1] |
Organism-specific databases
CTDi | 80896 |
DisGeNETi | 80896 |
EuPathDBi | HostDB:ENSG00000135838.13 |
GeneCardsi | NPL |
HGNCi | HGNC:16781, NPL |
HPAi | ENSG00000135838, Tissue enhanced (blood) |
MIMi | 611412, gene |
neXtProti | NX_Q9BXD5 |
OpenTargetsi | ENSG00000135838 |
PharmGKBi | PA25602 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QQA3, Eukaryota |
GeneTreei | ENSGT00530000063604 |
HOGENOMi | CLU_924263_0_0_1 |
InParanoidi | Q9BXD5 |
OMAi | FTGHEVV |
OrthoDBi | 1238597at2759 |
PhylomeDBi | Q9BXD5 |
TreeFami | TF353639 |
Enzyme and pathway databases
UniPathwayi | UPA00629 |
BRENDAi | 4.1.3.3, 2681 |
PathwayCommonsi | Q9BXD5 |
Reactomei | R-HSA-4085001, Sialic acid metabolism |
Miscellaneous databases
BioGRID-ORCSi | 80896, 20 hits in 841 CRISPR screens |
ChiTaRSi | NPL, human |
GenomeRNAii | 80896 |
Pharosi | Q9BXD5, Tbio |
PROi | PR:Q9BXD5 |
RNActi | Q9BXD5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000135838, Expressed in monocyte and 203 other tissues |
ExpressionAtlasi | Q9BXD5, baseline and differential |
Genevisiblei | Q9BXD5, HS |
Family and domain databases
CDDi | cd00954, NAL, 1 hit |
Gene3Di | 3.20.20.70, 1 hit |
InterProi | View protein in InterPro IPR013785, Aldolase_TIM IPR002220, DapA-like IPR005264, NanA |
PANTHERi | PTHR12128, PTHR12128, 1 hit |
Pfami | View protein in Pfam PF00701, DHDPS, 1 hit |
PIRSFi | PIRSF001365, DHDPS, 1 hit |
PRINTSi | PR00146, DHPICSNTHASE |
SMARTi | View protein in SMART SM01130, DHDPS, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | NPL_HUMAN | |
Accessioni | Q9BXD5Primary (citable) accession number: Q9BXD5 Secondary accession number(s): B2R839 Q6PEL0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 23, 2007 |
Last sequence update: | June 1, 2001 | |
Last modified: | December 2, 2020 | |
This is version 151 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM