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    PLEKHN1 pleckstrin homology domain containing N1 [ Homo sapiens (human) ]

    Gene ID: 84069, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PLEKHN1provided by HGNC
    Official Full Name
    pleckstrin homology domain containing N1provided by HGNC
    Primary source
    HGNC:HGNC:25284
    See related
    Ensembl:ENSG00000187583 AllianceGenome:HGNC:25284
    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
    CLPABP
    Summary
    Enables phospholipid binding activity. Involved in 3'-UTR-mediated mRNA destabilization; positive regulation of apoptotic process; and response to hypoxia. Located in cytoskeleton and mitochondrial membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in skin (RPKM 9.8), esophagus (RPKM 3.7) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PLEKHN1 in Genome Data Viewer
    Location:
    1p36.33
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (966482..975865)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (395193..404574)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (901862..911245)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene sterile alpha motif domain containing 11 Neighboring gene NOC2 like nucleolar associated transcriptional repressor Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:893904-894761 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11 Neighboring gene kelch like family member 17 Neighboring gene PPARGC1 and ESRR induced regulator, muscle 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:941508-942493 Neighboring gene hes family bHLH transcription factor 4 Neighboring gene ribosomal protein L39 pseudogene 12

    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 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. Novel tyrosine phosphorylated and cardiolipin-binding protein CLPABP functions as mitochondrial RNA granule. Sano E, et al. Biochim Biophys Acta, 2008 Jun. PMID 18191643
    2. Role of N-myristoylation in stability and subcellular localization of the CLPABP protein. Maeda A, et al. Biochem Biophys Res Commun, 2018 Jan 1. PMID 29180010
    3. Legionella effector AnkX interacts with host nuclear protein PLEKHN1. Yu X, et al. BMC Microbiol, 2018 Jan 5. PMID 29433439, Free PMC Article
    4. Antagonizing effect of CLPABP on the function of HuR as a regulator of ARE-containing leptin mRNA stability and the effect of its depletion on obesity in old male mouse. Nishino T, et al. Biochim Biophys Acta, 2016 Nov. PMID 27616329
    5. PLEKHN1 promotes apoptosis by enhancing Bax-Bak hetro-oligomerization through interaction with Bid in human colon cancer. Kuriyama S, et al. Cell Death Discov, 2018 Dec. PMID 29531808, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    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

    • MGC120613, MGC120616, DKFZp434H2010

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cardiolipin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cardiolipin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidic acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidic acid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol phosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylserine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylserine binding 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 3'-UTR-mediated mRNA destabilization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in 3'-UTR-mediated mRNA destabilization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to hypoxia IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to hypoxia IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitochondrial membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    pleckstrin homology domain-containing family N member 1
    Names
    PH domain-containing family N member 1
    cardiolipin and phosphatidic acid-binding protein

    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_001160184.2 → NP_001153656.1  pleckstrin homology domain-containing family N member 1 isoform b

      See identical proteins and their annotated locations for NP_001153656.1

      Status: VALIDATED

      Source sequence(s)
      AL645608
      Consensus CDS
      CCDS53256.1
      UniProtKB/Swiss-Prot
      Q494U1
      Related
      ENSP00000368717.2, ENST00000379407.7
      Conserved Domains (3) summary
      cd13323
      Location:228 → 348
      PH_PLEKHN1; Pleckstrin homology domain containing family N member 1Pleckstrin homology-like domain
      pfam08580
      Location:371 → 543
      KAR9; Yeast cortical protein KAR9
      cl17171
      Location:96 → 189
      PH-like; Pleckstrin homology-like domain

    2. NM_001367552.1 → NP_001354481.1  pleckstrin homology domain-containing family N member 1 isoform c

      Status: VALIDATED

      Source sequence(s)
      AL645608

    3. NM_001410697.1 → NP_001397626.1  pleckstrin homology domain-containing family N member 1 isoform d

      Status: VALIDATED

      Source sequence(s)
      AL645608
      Consensus CDS
      CCDS90835.1
      Related
      ENSP00000368719.2, ENST00000379409.6

    4. NM_032129.3 → NP_115505.2  pleckstrin homology domain-containing family N member 1 isoform a

      See identical proteins and their annotated locations for NP_115505.2

      Status: VALIDATED

      Source sequence(s)
      AL645608
      Consensus CDS
      CCDS4.1
      UniProtKB/Swiss-Prot
      Q494U1, Q494U2, Q5SV98, Q9H0M7
      Related
      ENSP00000368720.3, ENST00000379410.8
      Conserved Domains (2) summary
      cd13323
      Location:216 → 336
      PH_PLEKHN1; Pleckstrin homology domain containing family N member 1Pleckstrin homology-like domain
      cl17171
      Location:96 → 189
      PH-like; Pleckstrin homology-like domain

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      966482..975865
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002475.2 → XP_016857964.2  pleckstrin homology domain-containing family N member 1 isoform X1

    2. XM_017002474.2 → XP_016857963.2  pleckstrin homology domain-containing family N member 1 isoform X3

    3. XM_047431794.1 → XP_047287750.1  pleckstrin homology domain-containing family N member 1 isoform X2

    4. XM_017002478.3 → XP_016857967.2  pleckstrin homology domain-containing family N member 1 isoform X5

    5. XM_047431795.1 → XP_047287751.1  pleckstrin homology domain-containing family N member 1 isoform X4

    6. XM_017002479.2 → XP_016857968.2  pleckstrin homology domain-containing family N member 1 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      395193..404574
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339065.1 → XP_054195040.1  pleckstrin homology domain-containing family N member 1 isoform X1

    2. XM_054339067.1 → XP_054195042.1  pleckstrin homology domain-containing family N member 1 isoform X3

    3. XM_054339066.1 → XP_054195041.1  pleckstrin homology domain-containing family N member 1 isoform X2

    4. XM_054339069.1 → XP_054195044.1  pleckstrin homology domain-containing family N member 1 isoform X5

    5. XM_054339068.1 → XP_054195043.1  pleckstrin homology domain-containing family N member 1 isoform X4

    6. XM_054339070.1 → XP_054195045.1  pleckstrin homology domain-containing family N member 1 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q494U1.3 GenPept UniProtKB/Swiss-Prot:Q494U1

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