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

    Gene ID: 10650, updated on 28-Oct-2024

    Summary

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    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; AllianceGenome:HGNC:24639
    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
    Summary
    Enables phosphatidic acid transfer activity. Involved in phospholipid transport. Located in mitochondrion. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in brain (RPKM 2.2), fat (RPKM 1.3) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PRELID3A in Genome Data Viewer
    Location:
    18p11.21
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (12407929..12432238)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (12570904..12595226)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (12407928..12432237)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985154 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12334195-12335050 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12335909-12336764 Neighboring gene AFG3 like matrix AAA peptidase subunit 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:12377463-12377994 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:12377995-12378524 Neighboring gene Sharpr-MPRA regulatory region 1882 Neighboring gene hESC enhancers GRCh37_chr18:12407327-12407988 and GRCh37_chr18:12407989-12408648 Neighboring gene RNA, U7 small nuclear 129 pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12415673-12416623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9313 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:12431759-12432277 Neighboring gene uncharacterized LOC105371998 Neighboring gene high mobility group box 3 pseudogene 28 Neighboring gene spire type actin nucleation factor 1

    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 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. Structural insight into the TRIAP1/PRELI-like domain family of mitochondrial phospholipid transfer complexes. Miliara X, et al. EMBO Rep, 2015 Jul. PMID 26071602, Free PMC Article
    2. High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy. Hasson SA, et al. Nature, 2013 Dec 12. PMID 24270810, Free PMC Article
    3. Analysis of the Histone H3.1 Interactome: A Suitable Chaperone for the Right Event. Campos EI, et al. Mol Cell, 2015 Nov 19. PMID 26527279, Free PMC Article
    4. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article
    5. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    • FLJ31484, MGC120170, DKFZp547K106

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidic acid transfer activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidic acid transfer activity 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 intermembrane lipid transfer IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phospholipid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phospholipid transport 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 mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    PRELI domain containing protein 3A
    Names
    erythroid differentiation and denucleation factor 1
    protein slowmo homolog 1
    slowmo homolog 1

    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_001142405.2 → NP_001135877.1  PRELI domain containing protein 3A isoform 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, DB018070
      Consensus CDS
      CCDS11860.1
      UniProtKB/Swiss-Prot
      B0YJ10, B4E0C9, D3DUJ1, Q6AHX2, Q96N28
      UniProtKB/TrEMBL
      K7ELB4
      Related
      ENSP00000404700.1, ENST00000440960.6
      Conserved Domains (1) summary
      pfam04707
      Location:15 → 170
      PRELI; PRELI-like family

    2. NM_001142406.1 → NP_001135878.1  PRELI domain containing protein 3A isoform 2

      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/TrEMBL
      K7EPM9
      Related
      ENSP00000466737.1, ENST00000592149.5
      Conserved Domains (1) summary
      pfam04707
      Location:1 → 149
      PRELI; PRELI-like family

    3. NM_006553.4 → NP_006544.2  PRELI domain containing protein 3A isoform 1

      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, DB018070
      Consensus CDS
      CCDS11860.1
      UniProtKB/Swiss-Prot
      B0YJ10, B4E0C9, D3DUJ1, Q6AHX2, Q96N28
      UniProtKB/TrEMBL
      K7ELB4
      Related
      ENSP00000338988.3, ENST00000336990.8
      Conserved Domains (1) summary
      pfam04707
      Location:15 → 170
      PRELI; PRELI-like family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      12407929..12432238
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451076.2 → XP_024306844.1  PRELI domain containing protein 3A isoform X4

      UniProtKB/TrEMBL
      K7EPM9
      Conserved Domains (1) summary
      pfam04707
      Location:1 → 149
      PRELI; PRELI-like family

    2. XM_047437273.1 → XP_047293229.1  PRELI domain containing protein 3A isoform X3

    3. XM_024451075.1 → XP_024306843.1  PRELI domain containing protein 3A isoform X2

      UniProtKB/TrEMBL
      K7ELB4
      Conserved Domains (1) summary
      pfam04707
      Location:19 → 174
      PRELI; PRELI-like family

    4. XM_047437271.1 → XP_047293227.1  PRELI domain containing protein 3A isoform X1

      Related
      ENSP00000465996.1, ENST00000587862.5

    5. XM_047437272.1 → XP_047293228.1  PRELI domain containing protein 3A isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      12570904..12595226
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318147.1 → XP_054174122.1  PRELI domain containing protein 3A isoform X3

    2. XM_054318146.1 → XP_054174121.1  PRELI domain containing protein 3A isoform X2

    3. XM_054318144.1 → XP_054174119.1  PRELI domain containing protein 3A isoform X1

    4. XM_054318145.1 → XP_054174120.1  PRELI domain containing protein 3A isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96N28.1 GenPept UniProtKB/Swiss-Prot:Q96N28

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