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

Gene ID: 80896, updated on 7-Jun-2020

Summary

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
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

Genomic context

See NPL in Genome Data Viewer
Location:
1q25.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (182789449..182830384)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (182758584..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 uncharacterized LOC647070 Neighboring gene DExH-box helicase 9 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

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC61869, MGC149582

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-acetylneuraminate lyase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
N-acetylneuraminate catabolic process IEA
Inferred from Electronic Annotation
more info
 
N-acetylneuraminate catabolic process TAS
Traceable Author Statement
more info
PubMed 
carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

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)

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
    5001..45936
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001200050.1NP_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:56287
    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_001200051.2NP_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:8209
    Aldolase_Class_I; Class I aldolases
  3. NM_001200052.1NP_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:8218
    Aldolase_Class_I; Class I aldolases
  4. NM_001200056.2NP_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:8284
    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_030769.2NP_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
    Q9BXD5
    Related
    ENSP00000356524.1, ENST00000367553.5
    Conserved Domains (1) summary
    cd00954
    Location:8306
    NAL; N-Acetylneuraminic acid aldolase, also called N-acetylneuraminate lyase (NAL)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    182789449..182830384
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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