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NAPEPLD N-acyl phosphatidylethanolamine phospholipase D [ Homo sapiens (human) ]

Gene ID: 222236, updated on 8-May-2016
Official Symbol
NAPEPLDprovided by HGNC
Official Full Name
N-acyl phosphatidylethanolamine phospholipase Dprovided by HGNC
Primary source
HGNC:HGNC:21683
See related
Ensembl:ENSG00000161048 HPRD:14809; MIM:612334; Vega:OTTHUMG00000157204
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FMP30; NAPE-PLD
Summary
NAPEPLD is a phospholipase D type enzyme that catalyzes the release of N-acylethanolamine (NAE) from N-acyl-phosphatidylethanolamine (NAPE) in the second step of the biosynthesis of N-acylethanolamine (Okamoto et al., 2004 [PubMed 14634025]).[supplied by OMIM, Oct 2008]
Orthologs
Location:
7q22.1
Exon count:
8
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (103099576..103149322, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (102740023..102791081, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene F-box and leucine-rich repeat protein 13 Neighboring gene nuclear factor, erythroid 4 Neighboring gene armadillo repeat containing 10 Neighboring gene crystallin zeta pseudogene 1 Neighboring gene uncharacterized LOC105375434 Neighboring gene ribosomal protein L19 pseudogene 12 Neighboring gene DPY19L2 pseudogene 2 Neighboring gene S100 calcium binding protein A11 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Biosynthesis of A2E, implicated in retinal degradation, organism-specific biosystem (from REACTOME)
    Biosynthesis of A2E, implicated in retinal degradation, organism-specific biosystemLipofuscin is a yellow-brown pigment grain composed mainly of lipids but also sugars and certain metals. Accumulation of lipofuscin is associated with degenerative diseases such as Alzheimer's diseas...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with visual transduction, organism-specific biosystem (from REACTOME)
    Diseases associated with visual transduction, organism-specific biosystemThe process of vision involves two stages; the retinoid cycle which supplies and regenerates the visual chromophore required for vision and phototransduction which propagates the light signal. Defect...
  • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
  • Retinoid cycle disease events, organism-specific biosystem (from REACTOME)
    Retinoid cycle disease events, organism-specific biosystemThe gene defects which cause diseases related to the retinoid cycle are described here (Travis et al. 2007, Palczewski 2010, Fletcher et al. 2011, den Hollander et al. 2008).
  • Retrograde endocannabinoid signaling, organism-specific biosystem (from KEGG)
    Retrograde endocannabinoid signaling, organism-specific biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
  • Retrograde endocannabinoid signaling, conserved biosystem (from KEGG)
    Retrograde endocannabinoid signaling, conserved biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • The canonical retinoid cycle in rods (twilight vision), organism-specific biosystem (from REACTOME)
    The canonical retinoid cycle in rods (twilight vision), organism-specific biosystemThe retinoid cycle (also referred to as the visual cycle) is the process by which the visual chromophore 11-cis-retinal (11cRAL) is released from light-activated opsins in the form all-trans-retinal ...
  • Visual phototransduction, organism-specific biosystem (from REACTOME)
    Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp781D1098

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-acylphosphatidylethanolamine-specific phospholipase D activity TAS
Traceable Author Statement
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
phospholipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor outer segment membrane TAS
Traceable Author Statement
more info
 
Preferred Names
N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D
Names
NAPE-hydrolyzing phospholipase D
NP_001116310.1
NP_945341.3

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.

mRNA and Protein(s)

  1. NM_001122838.1NP_001116310.1  N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D

    See identical proteins and their annotated locations for NP_001116310.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC007683
    Consensus CDS
    CCDS5729.1
    UniProtKB/Swiss-Prot
    Q6IQ20
    Related
    ENSP00000419188, OTTHUMP00000211699, ENST00000465647, OTTHUMT00000347906
    Conserved Domains (1) summary
    COG2220
    Location:120389
    UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]
  2. NM_198990.4NP_945341.3  N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D

    See identical proteins and their annotated locations for NP_945341.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC007683
    Consensus CDS
    CCDS5729.1
    UniProtKB/Swiss-Prot
    Q6IQ20
    Related
    ENSP00000340093, OTTHUMP00000211696, ENST00000341533, OTTHUMT00000347903
    Conserved Domains (1) summary
    COG2220
    Location:120389
    UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

    Range
    103099576..103149322 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250214.3XP_005250271.2  

    See identical proteins and their annotated locations for XP_005250271.2

    UniProtKB/Swiss-Prot
    Q6IQ20
    Conserved Domains (1) summary
    COG2220
    Location:120389
    UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]
  2. XM_011515933.1XP_011514235.1  

    See identical proteins and their annotated locations for XP_011514235.1

    UniProtKB/Swiss-Prot
    Q6IQ20
    Related
    ENSP00000392775, OTTHUMP00000211698, ENST00000427257, OTTHUMT00000347905
    Conserved Domains (1) summary
    COG2220
    Location:120389
    UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]
  3. XM_005250215.1XP_005250272.1  

    See identical proteins and their annotated locations for XP_005250272.1

    UniProtKB/Swiss-Prot
    Q6IQ20
    Related
    ENSP00000407112, OTTHUMP00000211697, ENST00000417955, OTTHUMT00000347904
    Conserved Domains (1) summary
    COG2220
    Location:120389
    UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]
  4. XM_005250218.1XP_005250275.1  

    See identical proteins and their annotated locations for XP_005250275.1

    UniProtKB/Swiss-Prot
    Q6IQ20
    Conserved Domains (1) summary
    COG2220
    Location:120389
    UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]
  5. XM_011515934.1XP_011514236.1  

    See identical proteins and their annotated locations for XP_011514236.1

    Conserved Domains (1) summary
    COG2220
    Location:2254
    UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]

Reference GRCh38.p2 ALT_REF_LOCI_1

Genomic

  1. NT_187559.1 Reference GRCh38.p2 ALT_REF_LOCI_1

    Range
    95403..145153
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006725052.2XP_006725115.2  

    See identical proteins and their annotated locations for XP_006725115.2

    UniProtKB/Swiss-Prot
    Q6IQ20
    Conserved Domains (1) summary
    COG2220
    Location:120389
    UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]
  2. XM_006725053.2XP_006725116.2  

    See identical proteins and their annotated locations for XP_006725116.2

    UniProtKB/Swiss-Prot
    Q6IQ20
    Conserved Domains (1) summary
    COG2220
    Location:120389
    UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]
  3. XM_006725054.1XP_006725117.1  

    See identical proteins and their annotated locations for XP_006725117.1

    UniProtKB/Swiss-Prot
    Q6IQ20
    Conserved Domains (1) summary
    COG2220
    Location:120389
    UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]
  4. XM_006725056.1XP_006725119.1  

    See identical proteins and their annotated locations for XP_006725119.1

    UniProtKB/Swiss-Prot
    Q6IQ20
    Conserved Domains (1) summary
    COG2220
    Location:120389
    UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]
  5. XM_011546498.1XP_011544800.1  

    See identical proteins and their annotated locations for XP_011544800.1

    Conserved Domains (1) summary
    COG2220
    Location:2254
    UlaG; L-ascorbate metabolism protein UlaG, beta-lactamase superfamily [Carbohydrate transport and metabolism]

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    102673431..102722953 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)