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

    Gene ID: 27166, updated on 17-Jun-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See PRELID1 in Genome Data Viewer
    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

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    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)

    NEW Try the new Transcript table

    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_001271828.2NP_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:16170
      PRELI; PRELI-like family
    2. NM_013237.4NP_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:16172
      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)