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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
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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

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. 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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