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    PRELID1 PRELI domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 27166, updated on 5-Mar-2024

    Summary

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    Official Symbol
    PRELID1provided by HGNC
    Official Full Name
    PRELI domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:30255
    See related
    Ensembl:ENSG00000169230 MIM:605733; AllianceGenome:HGNC:30255
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PX19; PRELI; SBBI12; CGI-106
    Summary
    This gene encodes a member of the late embryogenesis abundant motif-containing protein family. The encoded protein is localized to mitochondria and may function as a cytoprotectant by regulating cell death and differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012]
    Expression
    Ubiquitous expression in colon (RPKM 60.0), small intestine (RPKM 55.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    5q35.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (177303799..177306949)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (177847033..177850183)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (176730800..176733950)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene nuclear receptor binding SET domain protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176692158-176693050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176693051-176693942 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:176696443-176697642 Neighboring gene protein arginine methyltransferase 1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176722701-176723202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176723203-176723702 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:176727388-176727581 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:176728411-176729610 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16677 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:176730775-176731652 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23699 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23700 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23703 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:176737000-176737866 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16680 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16681 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23705 Neighboring gene Sharpr-MPRA regulatory region 13731 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176746939-176747440 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176747441-176747940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176751079-176751579 Neighboring gene RAB24, member RAS oncogene family Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:176753137-176754080 Neighboring gene MAX dimerization protein 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:176763024-176763649 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:176765883-176766836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23706 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:176778754-176778968 Neighboring gene lectin, mannose binding 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176784977-176785477 Neighboring gene ribosomal protein S20 pseudogene 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23712 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:176793955-176794594 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:176794595-176795233 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176796333-176797184 Neighboring gene regulator of G protein signaling 14

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Alternative Polyadenylation of PRELID1 Regulates Mitochondrial ROS Signaling and Cancer Outcomes. Gillen AE, et al. Mol Cancer Res, 2017 Dec. PMID 28912168, Free PMC Article
    2. Effects of PRELI in Oxidative-Stressed HepG2 Cells. Kim BY, et al. Ann Clin Lab Sci, 2015 Summer. PMID 26275693
    3. PRELI, the human homologue of the avian px19, is expressed by germinal center B lymphocytes. Guzman-Rojas L, et al. Int Immunol, 2000 May. PMID 10784606
    4. PRELI is a mitochondrial regulator of human primary T-helper cell apoptosis, STAT6, and Th2-cell differentiation. Tahvanainen J, et al. Blood, 2009 Feb 5. PMID 18945965
    5. The pseudogene PRELID1P6 promotes glioma progression via the hnHNPH1-Akt/mTOR axis. Xi S, et al. Oncogene, 2021 Jul. PMID 34108621, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The pseudogene PRELID1P6 promotes glioma progression via the hnHNPH1-Akt/mTOR axis.
      Title: The pseudogene PRELID1P6 promotes glioma progression via the hnHNPH1-Akt/mTOR axis.
    2. Structural determinants of lipid specificity within Ups/PRELI lipid transfer proteins has been reported.
      Title: Structural determinants of lipid specificity within Ups/PRELI lipid transfer proteins.
    3. This study suggests that the regulation of PRELID1 expression, by alternative polyadenylation and other mechanisms, plays a role in mitochondrial ROS signaling and represents a novel prognostic factor and therapeutic target in cancer
      Title: Alternative Polyadenylation of PRELID1 Regulates Mitochondrial ROS Signaling and Cancer Outcomes.
    4. PRELI plays an important role in the suppression of apoptosis in HepG2 cells in response to oxidative stress.
      Title: Effects of PRELI in Oxidative-Stressed HepG2 Cells.
    5. Loss of TRIAP1 or PRELI impairs the accumulation of Cardiolipin, facilitates the release of cytochrome c, and renders cells vulnerable to apoptosis upon intrinsic and extrinsic stimulation.
      Title: TRIAP1/PRELI complexes prevent apoptosis by mediating intramitochondrial transport of phosphatidic acid.
    6. PRELI is a vital LEA B cell protein with failsafe genetics
      Title: Spare PRELI gene loci: failsafe chromosome insurance?
    7. PRELI interacts with OPA1 to maintain mitochondria structures intact, sustain balanced ion(-)/proton(+) gradients, promote oxidative phosphorylation reactions, regulate pro- and antiapoptotic protein traffic and enable cell responses to induced death.
      Title: Vital function of PRELI and essential requirement of its LEA motif.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    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
    Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
    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

    • MGC87972

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to phosphatidic acid transfer activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intermembrane lipid transfer IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of mitochondrial membrane potential IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of release of cytochrome c from mitochondria IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in phospholipid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of T cell apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cellular respiration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of phospholipid transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of T cell differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of membrane lipid distribution IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of mitochondrial membrane potential IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrial intermembrane space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial intermembrane space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial intermembrane space TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    PRELI domain-containing protein 1, mitochondrial
    Names
    25 kDa protein of relevant evolutionary and lymphoid interest
    px19-like 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_001271828.2 → NP_001258757.1  PRELI domain-containing protein 1, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_001258757.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AA844687, AF112203, BC007268, BG739785, BU956915
      Consensus CDS
      CCDS64328.1
      UniProtKB/Swiss-Prot
      Q9Y255
      Related
      ENSP00000427097.1, ENST00000503216.5
      Conserved Domains (1) summary
      pfam04707
      Location:16 → 170
      PRELI; PRELI-like family

    2. NM_013237.4 → NP_037369.1  PRELI domain-containing protein 1, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_037369.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA844687, BC007268, BU956915
      Consensus CDS
      CCDS4415.1
      UniProtKB/Swiss-Prot
      B2R5F7, D6RD25, Q549N2, Q9UI13, Q9UJS9, Q9Y255
      Related
      ENSP00000302114.4, ENST00000303204.9
      Conserved Domains (1) summary
      pfam04707
      Location:16 → 172
      PRELI; PRELI-like family

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      177303799..177306949
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      177847033..177850183
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y255.1 GenPept UniProtKB/Swiss-Prot:Q9Y255

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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