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NPL N-acetylneuraminate pyruvate lyase [ Homo sapiens (human) ]

Gene ID: 80896, updated on 27-Nov-2024

Summary

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Official Symbol
NPLprovided by HGNC
Official Full Name
N-acetylneuraminate pyruvate lyaseprovided by HGNC
Primary source
HGNC:HGNC:16781
See related
Ensembl:ENSG00000135838 MIM:611412; AllianceGenome:HGNC:16781
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NAL; C112; NPL1; C1orf13
Summary
This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes. N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by mediating the reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Expression
Broad expression in placenta (RPKM 18.1), kidney (RPKM 16.5) and 20 other tissues See more
Orthologs
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Genomic context

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See NPL in Genome Data Viewer
Location:
1q25.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (182789773..182830384)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (182148939..182189548)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (182758908..182799519)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene regulator of G protein signaling 8 Neighboring gene long intergenic non-protein coding RNA 1688 Neighboring gene NSE4 homolog A, SMC5-SMC6 complex component pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:182711495-182712108 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:182729835-182731034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:182758561-182759061 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2208 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:182808107-182808948 Neighboring gene DHX9 antisense RNA 1 Neighboring gene DExH-box helicase 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1622 Neighboring gene SHC binding and spindle associated 1 like Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Characterization of a sialate pyruvate-lyase in the cytosol of human erythrocytes. Bulai T, et al. Biochimie, 2002 Jul. PMID 12453637
  2. A novel splice variant of human gene NPL, mainly expressed in human liver, kidney and peripheral blood leukocyte. Wu M, et al. DNA Seq, 2005 Apr. PMID 16147865
  3. Homology modeling and molecular dynamics study on N-acetylneuraminate lyase. Chu HY, et al. J Mol Model, 2009 Mar. PMID 19057931
  4. The sialate-pyruvate lyase from pig kidney. Elucidation of the primary structure and expression of recombinant enzyme activity. Traving C, et al. Eur J Biochem, 2001 Dec. PMID 11737202
  5. Metabolism of vertebrate amino sugars with N-glycolyl groups: elucidating the intracellular fate of the non-human sialic acid N-glycolylneuraminic acid. Bergfeld AK, et al. J Biol Chem, 2012 Aug 17. PMID 22692205, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 3D structure model of N-acetylneuraminate lyase from human (hNAL, EC 4.1.3.3) was created and refined
    Title: Homology modeling and molecular dynamics study on N-acetylneuraminate lyase.
  2. an NPL splice variant is mainly expressed in human liver, kidney and peripheral blood leukocytes
    Title: A novel splice variant of human gene NPL, mainly expressed in human liver, kidney and peripheral blood leukocyte.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC61869, MGC149582

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N-acetylneuraminate lyase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables N-acetylneuraminate lyase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables N-acetylneuraminate lyase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in N-acetylneuraminate catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in N-acetylneuraminate catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in N-acetylneuraminate catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in N-acetylneuraminate catabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
N-acetylneuraminate lyase
Names
N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)
N-acetylneuraminic acid aldolase
NALase
dihydrodipicolinate synthetase homolog 1
sialate-pyruvate lyase
sialic acid aldolase
NP_001186979.1
NP_001186980.1
NP_001186981.1
NP_001186985.1
NP_110396.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_053009.1 RefSeqGene

    Range
    5325..45936
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001200050.2 → NP_001186979.1  N-acetylneuraminate lyase isoform 2

    See identical proteins and their annotated locations for NP_001186979.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, uses an alternate splice site in the coding region and initiates translation at a downstream start site, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AL355999, AY336748, CB961482
    Consensus CDS
    CCDS55667.1
    UniProtKB/Swiss-Prot
    Q9BXD5
    Related
    ENSP00000356525.3, ENST00000367554.7
    Conserved Domains (1) summary
    cl21457
    Location:56 → 287
    TIM_phosphate_binding; TIM barrel proteins share a structurally conserved phosphate binding motif and in general share an eight beta/alpha closed barrel structure. Specific for this family is the conserved phosphate binding site at the edges of strands 7 and 8. The phosphate ...

  2. NM_001200051.2 → NP_001186980.1  N-acetylneuraminate lyase isoform 4

    See identical proteins and their annotated locations for NP_001186980.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple differences in the 3' coding region, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AI249145, BC058003
    Consensus CDS
    CCDS55666.1
    UniProtKB/Swiss-Prot
    Q9BXD5
    Related
    ENSP00000356526.1, ENST00000367555.5
    Conserved Domains (1) summary
    cl28880
    Location:8 → 209
    Aldolase_Class_I; Class I aldolases

  3. NM_001200052.2 → NP_001186981.1  N-acetylneuraminate lyase isoform 5

    See identical proteins and their annotated locations for NP_001186981.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL355999, AL525867, CB961482
    Consensus CDS
    CCDS72990.1
    UniProtKB/TrEMBL
    A0A087WZ70
    Related
    ENSP00000482415.1, ENST00000614468.1
    Conserved Domains (1) summary
    cl28880
    Location:8 → 218
    Aldolase_Class_I; Class I aldolases

  4. NM_001200056.2 → NP_001186985.1  N-acetylneuraminate lyase isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK313225, AL355999, BC042003
    UniProtKB/Swiss-Prot
    Q9BXD5
    Conserved Domains (1) summary
    cl21457
    Location:8 → 284
    TIM_phosphate_binding; TIM barrel proteins share a structurally conserved phosphate binding motif and in general share an eight beta/alpha closed barrel structure. Specific for this family is the conserved phosphate binding site at the edges of strands 7 and 8. The phosphate ...

  5. NM_030769.3 → NP_110396.1  N-acetylneuraminate lyase isoform 1

    See identical proteins and their annotated locations for NP_110396.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK313225, AL355999, CB961482
    Consensus CDS
    CCDS1350.1
    UniProtKB/Swiss-Prot
    B2R839, Q4G0Q8, Q4G0Z2, Q64L88, Q6PEL0, Q9BXD5
    Related
    ENSP00000356524.1, ENST00000367553.6
    Conserved Domains (1) summary
    cd00954
    Location:8 → 306
    NAL; N-Acetylneuraminic acid aldolase, also called N-acetylneuraminate lyase (NAL)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    182789773..182830384
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    182148939..182189548
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BXD5.1 GenPept UniProtKB/Swiss-Prot:Q9BXD5

Gene LinkOut

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