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    PRELID3B PRELI domain containing 3B [ Homo sapiens (human) ]

    Gene ID: 51012, updated on 10-Mar-2024

    Summary

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    Official Symbol
    PRELID3Bprovided by HGNC
    Official Full Name
    PRELI domain containing 3Bprovided by HGNC
    Primary source
    HGNC:HGNC:15892
    See related
    Ensembl:ENSG00000101166 MIM:620754; AllianceGenome:HGNC:15892
    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
    UPS2; SLMO2; C20orf45; dJ543J19.5
    Summary
    Predicted to enable phosphatidic acid transfer activity. Predicted to be involved in phospholipid transport. Predicted to be active in mitochondrial intermembrane space. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in duodenum (RPKM 48.4), small intestine (RPKM 44.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    20q13.32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (59033145..59042786, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (60816258..60825889, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (57608200..57617841, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18183 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:57581561-57582372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18185 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18186 Neighboring gene cathepsin Z Neighboring gene tubulin beta 1 class VI Neighboring gene NANOG hESC enhancer GRCh37_chr20:57603869-57604399 Neighboring gene SLMO2-ATP5E readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18187 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13087 Neighboring gene ATP synthase F1 subunit epsilon Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13088 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:57638504-57639703 Neighboring gene uncharacterized LOC124904943 Neighboring gene NANOG hESC enhancer GRCh37_chr20:57681118-57681619 Neighboring gene mitochondrial ribosomal protein S16 pseudogene 2

    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. Structural determinants of lipid specificity within Ups/PRELI lipid transfer proteins. Miliara X, et al. Nat Commun, 2019 Mar 8. PMID 30850607, Free PMC Article
    2. A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. Qayyum R, et al. PLoS Genet, 2012. PMID 22423221, Free PMC Article
    3. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. Lai CH, et al. Genome Res, 2000 May. PMID 10810093, Free PMC Article
    4. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Floyd BJ, et al. Mol Cell, 2016 Aug 18. PMID 27499296, Free PMC Article
    5. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SLMO2 is a potential prognostic and immunological biomarker in human pan-cancer.
      Title: SLMO2 is a potential prognostic and immunological biomarker in human pan-cancer.
    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. 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
    A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidic acid transfer activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial intermembrane space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    PRELI domain containing protein 3B
    Names
    protein slowmo homolog 2
    slowmo homolog 2

    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_001256403.2 → NP_001243332.1  PRELI domain containing protein 3B isoform 2

      See identical proteins and their annotated locations for NP_001243332.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AF151865, AK298135, BC010649
      Consensus CDS
      CCDS58783.1
      UniProtKB/Swiss-Prot
      Q9Y3B1
      Related
      ENSP00000360072.5, ENST00000371033.9
      Conserved Domains (1) summary
      pfam04707
      Location:15 → 140
      PRELI; PRELI-like family

    2. NM_016045.3 → NP_057129.2  PRELI domain containing protein 3B isoform 1

      See identical proteins and their annotated locations for NP_057129.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AF151865, BC010649
      Consensus CDS
      CCDS42893.1
      UniProtKB/Swiss-Prot
      E1P5I8, Q5JX17, Q9NUL0, Q9Y3B1
      Related
      ENSP00000348206.4, ENST00000355937.9
      Conserved Domains (1) summary
      pfam04707
      Location:15 → 170
      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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      59033145..59042786 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      60816258..60825889 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y3B1.2 GenPept UniProtKB/Swiss-Prot:Q9Y3B1

    Gene LinkOut

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

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