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    PLAAT1 phospholipase A and acyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 57110, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PLAAT1provided by HGNC
    Official Full Name
    phospholipase A and acyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:14922
    See related
    Ensembl:ENSG00000127252 MIM:606487; AllianceGenome:HGNC:14922
    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
    A-C1; HRSL1; HSD28; HRASLS; HRASLS1; PLA/AT1; PLAAT-1; H-REV107
    Summary
    Enables acyltransferase activity, transferring groups other than amino-acyl groups and phospholipase activity. Involved in N-acylphosphatidylethanolamine metabolic process and phosphatidylcholine metabolic process. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 17.3), thyroid (RPKM 1.8) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PLAAT1 in Genome Data Viewer
    Location:
    3q29
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (193240606..193281426)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (195935989..195976800)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (192959011..192988644)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr3:192542821-192542997 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20997 Neighboring gene Mab-21 domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20999 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:192632483-192632983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21000 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15007 Neighboring gene vascular endothelial zinc finger 1 pseudogene 1 Neighboring gene uncharacterized LOC105374280 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15008 Neighboring gene uncharacterized protein MGC2889 Neighboring gene ATP13A5 antisense RNA 1 Neighboring gene ATPase 13A5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:193065706-193066384 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:193107044-193107612 Neighboring gene ATPase 13A4 Neighboring gene ATP13A4 antisense RNA 1

    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. The HRASLS (PLA/AT) subfamily of enzymes. Mardian EB, et al. J Biomed Sci, 2015 Oct 26. PMID 26503625, Free PMC Article
    2. Isolation, characterization, and chromosome mapping of a human A-C1 Ha-Ras suppressor gene (HRASLS). Ito H, et al. Cytogenet Cell Genet, 2001. PMID 11474175
    3. Effects of Lipid Metabolism-Related Genes PTGIS and HRASLS on Phenotype, Prognosis, and Tumor Immunity in Lung Squamous Cell Carcinoma. Lei K, et al. Oxid Med Cell Longev, 2023. PMID 36703911, Free PMC Article
    4. Molecular interaction between K-Ras and H-REV107 in the Ras signaling pathway. Han CW, et al. Biochem Biophys Res Commun, 2017 Sep 16. PMID 28743497
    5. Transcriptional and translational downregulation of H-REV107, a class II tumour suppressor gene located on human chromosome 11q11-12. Husmann K, et al. Oncogene, 1998 Sep 10. PMID 9771974

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Effects of Lipid Metabolism-Related Genes PTGIS and HRASLS on Phenotype, Prognosis, and Tumor Immunity in Lung Squamous Cell Carcinoma.
      Title: Effects of Lipid Metabolism-Related Genes PTGIS and HRASLS on Phenotype, Prognosis, and Tumor Immunity in Lung Squamous Cell Carcinoma.
    2. A novel molecular mechanism describing K-Ras and H-REV107 binding is suggested and insights into new K-Ras effector target drugs are provided.
      Title: Molecular interaction between K-Ras and H-REV107 in the Ras signaling pathway.
    3. The HRASLS (PLA/AT) subfamily of enzymes.
      Title: The HRASLS (PLA/AT) subfamily of enzymes.
    4. a possible enzyme activity of A-C1
      Title: Enzymological analysis of the tumor suppressor A-C1 reveals a novel group of phospholipid-metabolizing enzymes.
    5. The phospholipase active site possesses a structurally conserved Cys-His-His triad as found in NlpC/P60 peptidases, indicating H-REV107 should adopt a similar catalytic mechanism towards phospholipid substrates to that of NlpC/P60 peptidases.
      Title: Solution structure of the N-terminal catalytic domain of human H-REV107--a novel circular permutated NlpC/P60 domain.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables N-acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables O-acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium-dependent phospholipase A2 activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calcium-independent phospholipase A2 activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylserine 1-acylhydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phospholipase A1 activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phospholipase A1 activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phospholipase A2 activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phospholipase A2 activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in N-acylphosphatidylethanolamine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in N-acylphosphatidylethanolamine metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in lens fiber cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in organelle disassembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in phosphatidylcholine metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in lysosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nuclear envelope lumen ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    phospholipase A and acyltransferase 1
    Names
    H-REV107 protein-related protein
    HRAS like suppressor
    HRAS-like suppressor 1
    phospholipase A/acyltransferase 1
    phospholipid-metabolizing enzyme A-C1
    NP_001353041.1
    NP_065119.3
    XP_011511336.2
    XP_011511337.2
    XP_047304580.1
    XP_047304581.1
    XP_047304582.1
    XP_054203328.1
    XP_054203329.1
    XP_054203330.1
    XP_054203331.1
    XP_054203332.1

    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.

    mRNA and Protein(s)

    1. NM_001366112.1 → NP_001353041.1  phospholipase A and acyltransferase 1

      Status: VALIDATED

      Source sequence(s)
      AC092966, AC105057
      Consensus CDS
      CCDS3303.3
      UniProtKB/Swiss-Prot
      D2KX19, Q6X7C0, Q86WS9, Q9HDD0, X6R3D1
      Conserved Domains (1) summary
      pfam04970
      Location:26 → 130
      LRAT; Lecithin retinol acyltransferase

    2. NM_020386.5 → NP_065119.3  phospholipase A and acyltransferase 1

      Status: VALIDATED

      Source sequence(s)
      BC048095, BX098792
      Consensus CDS
      CCDS3303.3
      UniProtKB/Swiss-Prot
      D2KX19, Q6X7C0, Q86WS9, Q9HDD0, X6R3D1
      Related
      ENSP00000264735.4, ENST00000264735.4
      Conserved Domains (1) summary
      pfam04970
      Location:26 → 130
      LRAT; Lecithin retinol acyltransferase

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      193240606..193281426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448626.1 → XP_047304582.1  phospholipase A and acyltransferase 1 isoform X5

      UniProtKB/Swiss-Prot
      D2KX19, Q6X7C0, Q86WS9, Q9HDD0, X6R3D1

    2. XM_011513035.3 → XP_011511337.2  phospholipase A and acyltransferase 1 isoform X2

    3. XM_011513034.2 → XP_011511336.2  phospholipase A and acyltransferase 1 isoform X1

    4. XM_047448625.1 → XP_047304581.1  phospholipase A and acyltransferase 1 isoform X4

    5. XM_047448624.1 → XP_047304580.1  phospholipase A and acyltransferase 1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      195935989..195976800
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347357.1 → XP_054203332.1  phospholipase A and acyltransferase 1 isoform X5

      UniProtKB/Swiss-Prot
      D2KX19, Q6X7C0, Q86WS9, Q9HDD0, X6R3D1

    2. XM_054347354.1 → XP_054203329.1  phospholipase A and acyltransferase 1 isoform X2

    3. XM_054347353.1 → XP_054203328.1  phospholipase A and acyltransferase 1 isoform X1

    4. XM_054347355.1 → XP_054203330.1  phospholipase A and acyltransferase 1 isoform X3

    5. XM_054347356.1 → XP_054203331.1  phospholipase A and acyltransferase 1 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HDD0.1 GenPept UniProtKB/Swiss-Prot:Q9HDD0

    Gene LinkOut

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