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PLD5 phospholipase D family member 5 [ Homo sapiens (human) ]

Gene ID: 200150, updated on 5-Mar-2024

Summary

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Official Symbol
PLD5provided by HGNC
Official Full Name
phospholipase D family member 5provided by HGNC
Primary source
HGNC:HGNC:26879
See related
Ensembl:ENSG00000180287 AllianceGenome:HGNC:26879
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
PLDC
Summary
Predicted to enable catalytic activity. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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See PLD5 in Genome Data Viewer
Location:
1q43
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (242082986..242530546, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (241495068..241942534, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (242246288..242687999, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1139, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:242220644-242221384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:242223521-242224022 Neighboring gene tubulin beta 8 class VIII pseudogene 6 Neighboring gene tripartite motif containing 39 pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:242373739-242374272 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:242374273-242374807 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:242373205-242373738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2830 Neighboring gene RN7SK pseudogene 12 Neighboring gene uncharacterized LOC105373235 Neighboring gene NANOG hESC enhancer GRCh37_chr1:242433537-242434038 Neighboring gene zinc finger protein 532 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr1:242541822-242542001 Neighboring gene DEAD-box helicase 55 pseudogene Neighboring gene ribosomal protein L10a pseudogene 5 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:242611784-242612983 Neighboring gene uncharacterized LOC105373234 Neighboring gene uncharacterized LOC107985466 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:242748387-242749056 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:242749057-242749726 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:242756967-242757533 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:242792333-242793532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:242815099-242815628 Neighboring gene ribosomal L24 domain containing 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. MicroRNA miR-145-5p inhibits Phospholipase D 5 (PLD5) to downregulate cell proliferation and metastasis to mitigate prostate cancer. Liu J, et al. Bioengineered, 2021 Dec. PMID 34238129, Free PMC Article
  2. A genome-wide scan for common alleles affecting risk for autism. Anney R, et al. Hum Mol Genet, 2010 Oct 15. PMID 20663923, Free PMC Article
  3. Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis. McCauley JL, et al. Genes Immun, 2009 Oct. PMID 19626040, Free PMC Article
  4. Genome-wide association study of ancestry-specific TB risk in the South African Coloured population. Chimusa ER, et al. Hum Mol Genet, 2014 Feb 1. PMID 24057671, Free PMC Article
  5. Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines. Li L, et al. BMC Genomics, 2014 Feb 1. PMID 24483146, Free PMC Article

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MicroRNA miR-145-5p inhibits Phospholipase D 5 (PLD5) to downregulate cell proliferation and metastasis to mitigate prostate cancer.
    Title: MicroRNA miR-145-5p inhibits Phospholipase D 5 (PLD5) to downregulate cell proliferation and metastasis to mitigate prostate cancer.
  2. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: A genome-wide scan for common alleles affecting risk for autism.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis.
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

EBI GWAS Catalog

Description
Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.
EBI GWAS Catalog
Genetics of coronary artery calcification among African Americans, a meta-analysis.
EBI GWAS Catalog
Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
EBI GWAS Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ40773, MGC120565, MGC120566, MGC120567

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
inactive phospholipase D5
Names
inactive PLD 5
inactive choline phosphatase 5
inactive phosphatidylcholine-hydrolyzing phospholipase D5

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.

mRNA and Protein(s)

  1. NM_001195811.2 → NP_001182740.1  inactive phospholipase D5 isoform 2

    See identical proteins and their annotated locations for NP_001182740.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence and uses an alternate splice junction at the 3' end of a coding exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AL591686, AY461578
    Consensus CDS
    CCDS55692.1
    UniProtKB/Swiss-Prot
    Q8N7P1
    Related
    ENSP00000401285.1, ENST00000427495.5
    Conserved Domains (3) summary
    cd09146
    Location:49 → 211
    PLDc_vPLD5_1; Putative catalytic domain, repeat 1, of inactive veterbrate phospholipase PLD5
    cd09149
    Location:247 → 440
    PLDc_vPLD5_2; Putative catalytic domain, repeat 2, of inactive veterbrate phospholipase PLD5
    PHA02820
    Location:42 → 465
    PHA02820; phospholipase-D-like protein; Provisional

  2. NM_001195812.2 → NP_001182741.1  inactive phospholipase D5 isoform 3

    See identical proteins and their annotated locations for NP_001182741.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AK091691, AL591686, AY461578
    UniProtKB/Swiss-Prot
    Q8N7P1
    Conserved Domains (3) summary
    cd09149
    Location:101 → 294
    PLDc_vPLD5_2; Putative catalytic domain, repeat 2, of inactive veterbrate phospholipase PLD5
    pfam13091
    Location:125 → 286
    PLDc_2; PLD-like domain
    cl15239
    Location:1 → 65
    PLDc_SF; Catalytic domain of phospholipase D superfamily proteins

  3. NM_001320272.2 → NP_001307201.1  inactive phospholipase D5 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region and uses an alternate start codon, compared to variant 1. It encodes isoform 4, which has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK098092, AL133851, AL445704, AL591686, BU581400
    Conserved Domains (3) summary
    cd09146
    Location:19 → 181
    PLDc_vPLD5_1; Putative catalytic domain, repeat 1, of inactive veterbrate phospholipase PLD5
    cd09149
    Location:217 → 410
    PLDc_vPLD5_2; Putative catalytic domain, repeat 2, of inactive veterbrate phospholipase PLD5
    PHA02820
    Location:20 → 435
    PHA02820; phospholipase-D-like protein; Provisional

  4. NM_001372062.1 → NP_001358991.1  inactive phospholipase D5 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL360271, AL445704, AL583845, AL591686
    Consensus CDS
    CCDS1621.2
    UniProtKB/Swiss-Prot
    A1KXV0, B7Z324, Q494U9, Q8N7P1, Q8NB22
    Related
    ENSP00000440896.1, ENST00000536534.7
    Conserved Domains (2) summary
    cd09146
    Location:111 → 273
    PLDc_vPLD5_1; Putative catalytic domain, repeat 1, of inactive veterbrate phospholipase PLD5
    cd09149
    Location:309 → 502
    PLDc_vPLD5_2; Putative catalytic domain, repeat 2, of inactive veterbrate phospholipase PLD5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    242082986..242530546 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544115.3 → XP_011542417.1  inactive phospholipase D5 isoform X2

    See identical proteins and their annotated locations for XP_011542417.1

    UniProtKB/Swiss-Prot
    Q8N7P1
    Conserved Domains (2) summary
    cd09146
    Location:20 → 182
    PLDc_vPLD5_1; Putative catalytic domain, repeat 1, of inactive veterbrate phospholipase PLD5
    cd09149
    Location:218 → 411
    PLDc_vPLD5_2; Putative catalytic domain, repeat 2, of inactive veterbrate phospholipase PLD5

  2. XM_011544116.3 → XP_011542418.1  inactive phospholipase D5 isoform X2

    See identical proteins and their annotated locations for XP_011542418.1

    UniProtKB/Swiss-Prot
    Q8N7P1
    Conserved Domains (2) summary
    cd09146
    Location:20 → 182
    PLDc_vPLD5_1; Putative catalytic domain, repeat 1, of inactive veterbrate phospholipase PLD5
    cd09149
    Location:218 → 411
    PLDc_vPLD5_2; Putative catalytic domain, repeat 2, of inactive veterbrate phospholipase PLD5

  3. XM_024453867.2 → XP_024309635.1  inactive phospholipase D5 isoform X1

    Conserved Domains (2) summary
    cd09146
    Location:68 → 230
    PLDc_vPLD5_1; Putative catalytic domain, repeat 1, of inactive veterbrate phospholipase PLD5
    cd09149
    Location:266 → 459
    PLDc_vPLD5_2; Putative catalytic domain, repeat 2, of inactive veterbrate phospholipase PLD5

  4. XM_047448705.1 → XP_047304661.1  inactive phospholipase D5 isoform X4

  5. XM_047448702.1 → XP_047304658.1  inactive phospholipase D5 isoform X4

  6. XM_011544120.3 → XP_011542422.1  inactive phospholipase D5 isoform X5

    See identical proteins and their annotated locations for XP_011542422.1

    UniProtKB/Swiss-Prot
    Q8N7P1
    Conserved Domains (3) summary
    cd09149
    Location:101 → 294
    PLDc_vPLD5_2; Putative catalytic domain, repeat 2, of inactive veterbrate phospholipase PLD5
    pfam13091
    Location:125 → 286
    PLDc_2; PLD-like domain
    cl15239
    Location:1 → 65
    PLDc_SF; Catalytic domain of phospholipase D superfamily proteins

  7. XM_011544119.3 → XP_011542421.2  inactive phospholipase D5 isoform X3

  8. XM_011544121.3 → XP_011542423.1  inactive phospholipase D5 isoform X5

    See identical proteins and their annotated locations for XP_011542423.1

    UniProtKB/Swiss-Prot
    Q8N7P1
    Conserved Domains (3) summary
    cd09149
    Location:101 → 294
    PLDc_vPLD5_2; Putative catalytic domain, repeat 2, of inactive veterbrate phospholipase PLD5
    pfam13091
    Location:125 → 286
    PLDc_2; PLD-like domain
    cl15239
    Location:1 → 65
    PLDc_SF; Catalytic domain of phospholipase D superfamily proteins

  9. XM_017000570.3 → XP_016856059.1  inactive phospholipase D5 isoform X5

    UniProtKB/Swiss-Prot
    Q8N7P1
    Conserved Domains (3) summary
    cd09149
    Location:101 → 294
    PLDc_vPLD5_2; Putative catalytic domain, repeat 2, of inactive veterbrate phospholipase PLD5
    pfam13091
    Location:125 → 286
    PLDc_2; PLD-like domain
    cl15239
    Location:1 → 65
    PLDc_SF; Catalytic domain of phospholipase D superfamily proteins

  10. XM_011544122.4 → XP_011542424.1  inactive phospholipase D5 isoform X5

    See identical proteins and their annotated locations for XP_011542424.1

    UniProtKB/Swiss-Prot
    Q8N7P1
    Conserved Domains (3) summary
    cd09149
    Location:101 → 294
    PLDc_vPLD5_2; Putative catalytic domain, repeat 2, of inactive veterbrate phospholipase PLD5
    pfam13091
    Location:125 → 286
    PLDc_2; PLD-like domain
    cl15239
    Location:1 → 65
    PLDc_SF; Catalytic domain of phospholipase D superfamily proteins

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    241495068..241942534 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054334940.1 → XP_054190915.1  inactive phospholipase D5 isoform X2

  2. XM_054334941.1 → XP_054190916.1  inactive phospholipase D5 isoform X2

  3. XM_054334939.1 → XP_054190914.1  inactive phospholipase D5 isoform X1

  4. XM_054334944.1 → XP_054190919.1  inactive phospholipase D5 isoform X4

  5. XM_054334943.1 → XP_054190918.1  inactive phospholipase D5 isoform X4

  6. XM_054334946.1 → XP_054190921.1  inactive phospholipase D5 isoform X5

  7. XM_054334942.1 → XP_054190917.1  inactive phospholipase D5 isoform X3

  8. XM_054334948.1 → XP_054190923.1  inactive phospholipase D5 isoform X5

  9. XM_054334947.1 → XP_054190922.1  inactive phospholipase D5 isoform X5

  10. XM_054334945.1 → XP_054190920.1  inactive phospholipase D5 isoform X5

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_152666.2: Suppressed sequence

    Description
    NM_152666.2: This RefSeq was removed because currently there is support for the protein but not for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N7P1.2 GenPept UniProtKB/Swiss-Prot:Q8N7P1

Gene LinkOut

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