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

Gene ID: 84069, updated on 23-Nov-2021

Summary

Official Symbol
PLEKHN1provided by HGNC
Official Full Name
pleckstrin homology domain containing N1provided by HGNC
Primary source
HGNC:HGNC:25284
See related
Ensembl:ENSG00000187583
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
Expression
Biased expression in skin (RPKM 9.8), esophagus (RPKM 3.7) and 3 other tissues See more
Orthologs
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Genomic context

See PLEKHN1 in Genome Data Viewer
Location:
1p36.33
Exon count:
15
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (965820..975865)
105.20201022 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 kelch like family member 17 Neighboring gene PPARGC1 and ESRR induced regulator, muscle 1 Neighboring gene hes family bHLH transcription factor 4 Neighboring gene ribosomal protein L39 pseudogene 12

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables cardiolipin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphatidic acid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
enables phosphatidylinositol phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphatidylserine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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

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_001160184.2NP_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:228348
    PH_PLEKHN1; Pleckstrin homology domain containing family N member 1Pleckstrin homology-like domain
    pfam08580
    Location:371543
    KAR9; Yeast cortical protein KAR9
    cl17171
    Location:96189
    PH-like; Pleckstrin homology-like domain
  2. NM_001367552.1NP_001354481.1  pleckstrin homology domain-containing family N member 1 isoform c

    Status: VALIDATED

    Source sequence(s)
    AL645608
  3. NM_032129.3NP_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
    Related
    ENSP00000368720.3, ENST00000379410.8
    Conserved Domains (2) summary
    cd13323
    Location:216336
    PH_PLEKHN1; Pleckstrin homology domain containing family N member 1Pleckstrin homology-like domain
    cl17171
    Location:96189
    PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    965820..975865
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542248.2XP_011540550.2  pleckstrin homology domain-containing family N member 1 isoform X1

    Related
    ENSP00000368719.2, ENST00000379409.6
  2. XM_017002475.1XP_016857964.1  pleckstrin homology domain-containing family N member 1 isoform X4

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

  4. XM_017002476.1XP_016857965.1  pleckstrin homology domain-containing family N member 1 isoform X5

  5. XM_017002477.1XP_016857966.1  pleckstrin homology domain-containing family N member 1 isoform X6

  6. XM_017002478.2XP_016857967.1  pleckstrin homology domain-containing family N member 1 isoform X7

  7. XM_017002479.1XP_016857968.1  pleckstrin homology domain-containing family N member 1 isoform X8

RNA

  1. XR_001737478.1 RNA Sequence

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