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

Gene ID: 84069, updated on 7-Apr-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, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (966482..975865)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (395193..404574)
105.20220307 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
  • 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. 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
  2. Novel tyrosine phosphorylated and cardiolipin-binding protein CLPABP functions as mitochondrial RNA granule. Sano E, et al. Biochim Biophys Acta, 2008 Jun. PMID 18191643
  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 (18) 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_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
    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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