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PLD3 phospholipase D family member 3 [ Homo sapiens (human) ]

Gene ID: 23646, updated on 3-May-2020

Summary

Official Symbol
PLD3provided by HGNC
Official Full Name
phospholipase D family member 3provided by HGNC
Primary source
HGNC:HGNC:17158
See related
Ensembl:ENSG00000105223 MIM:615698
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
AD19; HUK4; HU-K4; SCA46
Summary
This gene encodes a member of the phospholipase D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014]
Expression
Ubiquitous expression in brain (RPKM 96.3), spleen (RPKM 74.5) and 25 other tissues See more
Orthologs

Genomic context

See PLD3 in Genome Data Viewer
Location:
19q13.2
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (40348395..40378490)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (40854302..40884392)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene AKT serine/threonine kinase 2 Neighboring gene microRNA 641 Neighboring gene chromosome 19 open reading frame 47 Neighboring gene RNA, U6 small nuclear 945, pseudogene Neighboring gene microRNA 6796 Neighboring gene homeodomain interacting protein kinase 4 Neighboring gene periaxin

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with PLD3; predicted interaction to occur in the endoplasmic reticulum PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phospholipase D activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA 5'-3' exodeoxyribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA metabolic process IEA
Inferred from Electronic Annotation
more info
 
immune system process IEA
Inferred from Electronic Annotation
more info
 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
myotube differentiation IDA
Inferred from Direct Assay
more info
PubMed 
nucleic acid phosphodiester bond hydrolysis IEA
Inferred from Electronic Annotation
more info
 
regulation of cytokine production involved in inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
early endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
late endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal lumen IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
5'-3' exonuclease PLD3; phospholipase D3
Names
choline phosphatase 3
hindIII K4L homolog
phosphatidylcholine-hydrolyzing phospholipase D3
NP_001026866.1
NP_001278240.1
NP_036400.2
XP_005258761.1
XP_005258764.1
XP_005258765.1
XP_005258766.1
XP_005258767.1
XP_006723185.1
XP_011524994.1
XP_011524995.1
XP_016882035.1
XP_016882037.1
XP_016882038.1
XP_024307206.1

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_034098.1 RefSeqGene

    Range
    5271..35061
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001031696.3NP_001026866.1  5'-3' exonuclease PLD3

    See identical proteins and their annotated locations for NP_001026866.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 2. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    BC000553, BC096820, BQ640152, DA370667, DB057420
    Consensus CDS
    CCDS33027.1
    UniProtKB/Swiss-Prot
    Q8IV08
    UniProtKB/TrEMBL
    A0A024R0Q4
    Related
    ENSP00000348901.5, ENST00000356508.9
    Conserved Domains (1) summary
    cl28150
    Location:77490
    PLDc; Phospholipase D Active site motif
  2. NM_001291311.1NP_001278240.1  5'-3' exonuclease PLD3

    See identical proteins and their annotated locations for NP_001278240.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 5' UTR exon, compared to variant 2. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    BC000553, BC096820, BP304863, BQ640152, U60644
    Consensus CDS
    CCDS33027.1
    UniProtKB/Swiss-Prot
    Q8IV08
    UniProtKB/TrEMBL
    A0A024R0Q4
    Related
    ENSP00000387022.1, ENST00000409281.5
    Conserved Domains (1) summary
    cl28150
    Location:77490
    PLDc; Phospholipase D Active site motif
  3. NM_012268.4NP_036400.2  5'-3' exonuclease PLD3

    See identical proteins and their annotated locations for NP_036400.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longer transcript. Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    BC000553, BP304863, BQ640152, CX785201
    Consensus CDS
    CCDS33027.1
    UniProtKB/Swiss-Prot
    Q8IV08
    UniProtKB/TrEMBL
    A0A024R0Q4
    Related
    ENSP00000386938.3, ENST00000409735.9
    Conserved Domains (1) summary
    cl28150
    Location:77490
    PLDc; Phospholipase D Active site motif

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_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    40348395..40378490
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026546.1XP_016882035.1  phospholipase D3 isoform X1

    UniProtKB/Swiss-Prot
    Q8IV08
    UniProtKB/TrEMBL
    A0A024R0Q4
    Conserved Domains (1) summary
    cl28150
    Location:77490
    PLDc; Phospholipase D Active site motif
  2. XM_017026549.1XP_016882038.1  phospholipase D3 isoform X1

    UniProtKB/Swiss-Prot
    Q8IV08
    UniProtKB/TrEMBL
    A0A024R0Q4
    Conserved Domains (1) summary
    cl28150
    Location:77490
    PLDc; Phospholipase D Active site motif
  3. XM_006723122.1XP_006723185.1  phospholipase D3 isoform X1

    See identical proteins and their annotated locations for XP_006723185.1

    UniProtKB/Swiss-Prot
    Q8IV08
    UniProtKB/TrEMBL
    A0A024R0Q4
    Conserved Domains (1) summary
    cl28150
    Location:77490
    PLDc; Phospholipase D Active site motif
  4. XM_011526692.1XP_011524994.1  phospholipase D3 isoform X1

    See identical proteins and their annotated locations for XP_011524994.1

    UniProtKB/Swiss-Prot
    Q8IV08
    UniProtKB/TrEMBL
    A0A024R0Q4
    Conserved Domains (1) summary
    cl28150
    Location:77490
    PLDc; Phospholipase D Active site motif
  5. XM_017026548.1XP_016882037.1  phospholipase D3 isoform X1

    UniProtKB/Swiss-Prot
    Q8IV08
    UniProtKB/TrEMBL
    A0A024R0Q4
    Conserved Domains (1) summary
    cl28150
    Location:77490
    PLDc; Phospholipase D Active site motif
  6. XM_005258707.4XP_005258764.1  phospholipase D3 isoform X1

    See identical proteins and their annotated locations for XP_005258764.1

    UniProtKB/Swiss-Prot
    Q8IV08
    UniProtKB/TrEMBL
    A0A024R0Q4
    Conserved Domains (1) summary
    cl28150
    Location:77490
    PLDc; Phospholipase D Active site motif
  7. XM_005258709.4XP_005258766.1  phospholipase D3 isoform X1

    See identical proteins and their annotated locations for XP_005258766.1

    UniProtKB/Swiss-Prot
    Q8IV08
    UniProtKB/TrEMBL
    A0A024R0Q4
    Related
    ENSP00000386293.1, ENST00000409419.5
    Conserved Domains (1) summary
    cl28150
    Location:77490
    PLDc; Phospholipase D Active site motif
  8. XM_024451438.1XP_024307206.1  phospholipase D3 isoform X1

    Related
    ENSP00000387050.1, ENST00000409587.5
    Conserved Domains (1) summary
    cl28150
    Location:77490
    PLDc; Phospholipase D Active site motif
  9. XM_005258710.5XP_005258767.1  phospholipase D3 isoform X1

    See identical proteins and their annotated locations for XP_005258767.1

    UniProtKB/Swiss-Prot
    Q8IV08
    UniProtKB/TrEMBL
    A0A024R0Q4
    Conserved Domains (1) summary
    cl28150
    Location:77490
    PLDc; Phospholipase D Active site motif
  10. XM_005258704.2XP_005258761.1  phospholipase D3 isoform X1

    See identical proteins and their annotated locations for XP_005258761.1

    UniProtKB/Swiss-Prot
    Q8IV08
    UniProtKB/TrEMBL
    A0A024R0Q4
    Conserved Domains (1) summary
    cl28150
    Location:77490
    PLDc; Phospholipase D Active site motif
  11. XM_005258708.4XP_005258765.1  phospholipase D3 isoform X1

    See identical proteins and their annotated locations for XP_005258765.1

    UniProtKB/Swiss-Prot
    Q8IV08
    UniProtKB/TrEMBL
    A0A024R0Q4
    Conserved Domains (1) summary
    cl28150
    Location:77490
    PLDc; Phospholipase D Active site motif
  12. XM_011526693.1XP_011524995.1  phospholipase D3 isoform X1

    See identical proteins and their annotated locations for XP_011524995.1

    UniProtKB/Swiss-Prot
    Q8IV08
    UniProtKB/TrEMBL
    A0A024R0Q4
    Conserved Domains (1) summary
    cl28150
    Location:77490
    PLDc; Phospholipase D Active site motif
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