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    PRELID3A PRELI domain containing 3A [ Homo sapiens (human) ]

    Gene ID: 10650, updated on 10-Feb-2018
    Official Symbol
    PRELID3Aprovided by HGNC
    Official Full Name
    PRELI domain containing 3Aprovided by HGNC
    Primary source
    HGNC:HGNC:24639
    See related
    Ensembl:ENSG00000141391 MIM:616545; Vega:OTTHUMG00000131694
    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
    SLMO1; C18orf43; HFL-EDDG1
    Expression
    Ubiquitous expression in brain (RPKM 2.2), fat (RPKM 1.3) and 23 other tissues See more
    Orthologs
    Location:
    18p11.21
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 18 NC_000018.10 (12407896..12432238)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (12407895..12432237)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985154 Neighboring gene AFG3 like matrix AAA peptidase subunit 2 Neighboring gene RNA, U7 small nuclear 129 pseudogene Neighboring gene uncharacterized LOC105371998 Neighboring gene high mobility group box 3 pseudogene 28 Neighboring gene spire type actin nucleation factor 1

    • 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 Jun 15 11:32:44 2016
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • TP53 Regulates Transcription of Cell Death Genes, organism-specific biosystem (from REACTOME)
      TP53 Regulates Transcription of Cell Death Genes, organism-specific biosystemThe tumor suppressor TP53 (p53) exerts its tumor suppressive role in part by regulating transcription of a number of genes involved in cell death, mainly apoptotic cell death. The majority of apoptot...
    • TP53 Regulates Transcription of Genes Involved in Cytochrome C Release, organism-specific biosystem (from REACTOME)
      TP53 Regulates Transcription of Genes Involved in Cytochrome C Release, organism-specific biosystemApoptotic transcriptional targets of TP53 include genes that regulate the permeability of the mitochondrial membrane and/or cytochrome C release, such as BAX, BID, PMAIP1 (NOXA), BBC3 (PUMA) and prob...
    • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
      Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ31484, MGC120170, DKFZp547K106

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    phosphatidic acid transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    phospholipid transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein targeting to mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    mitochondrial intermembrane space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    PRELI domain containing protein 3A
    Names
    erythroid differentiation and denucleation factor 1
    protein slowmo homolog 1
    slowmo homolog 1

    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_001142405.1NP_001135877.1  PRELI domain containing protein 3A isoform 1

      See identical proteins and their annotated locations for NP_001135877.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the more predominant transcript. Transcript variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AK056046, AK303325, AP001029, CA446199, DB018070
      Consensus CDS
      CCDS11860.1
      UniProtKB/Swiss-Prot
      Q96N28
      Related
      ENSP00000404700.1, ENST00000440960.5
      Conserved Domains (1) summary
      pfam04707
      Location:15170
      PRELI; PRELI-like family
    2. NM_001142406.1NP_001135878.1  PRELI domain containing protein 3A isoform 2

      See identical proteins and their annotated locations for NP_001135878.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has a different 5' terminal exon resulting in translation initiation from a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AK303325, AP001029, CA446199
      Consensus CDS
      CCDS77154.1
      UniProtKB/Swiss-Prot
      Q96N28
      Related
      ENSP00000466737.1, OTTHUMP00000265274, ENST00000592149.5, OTTHUMT00000452975
      Conserved Domains (1) summary
      pfam04707
      Location:1149
      PRELI; PRELI-like family
    3. NM_006553.3NP_006544.2  PRELI domain containing protein 3A isoform 1

      See identical proteins and their annotated locations for NP_006544.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' UTR compared to variant 1. Transcript variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AK056046, AP001029, CA446199, DB018070
      Consensus CDS
      CCDS11860.1
      UniProtKB/Swiss-Prot
      Q96N28
      Related
      ENSP00000338988.3, OTTHUMP00000162475, ENST00000336990.8, OTTHUMT00000254602
      Conserved Domains (1) summary
      pfam04707
      Location:15170
      PRELI; PRELI-like family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p7 Primary Assembly

      Range
      12407896..12432238
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018929.2 Alternate CHM1_1.1

      Range
      12407294..12431622
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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