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

    Gene ID: 80896, updated on 2-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
    mouse all
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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 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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    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

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