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    MIPEPP3 mitochondrial intermediate peptidase pseudogene 3 [ Homo sapiens (human) ]

    Gene ID: 650794, updated on 22-Oct-2024

    Summary

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    Official Symbol
    MIPEPP3provided by HGNC
    Official Full Name
    mitochondrial intermediate peptidase pseudogene 3provided by HGNC
    Primary source
    HGNC:HGNC:39458
    See related
    Ensembl:ENSG00000291046 AllianceGenome:HGNC:39458
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Expression
    Ubiquitous expression in esophagus (RPKM 2.4), stomach (RPKM 2.0) and 24 other tissues See more
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    Genomic context

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    See MIPEPP3 in Genome Data Viewer
    Location:
    13q12.11
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (21298125..21392923)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (20491203..20587260)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (21872264..21967062)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370105 Neighboring gene estrogen-related receptor alpha pseudogene 2 Neighboring gene coiled-coil domain-containing protein 144B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7434 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7435 Neighboring gene long intergenic non-protein coding RNA 539 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:21911141-21911723 Neighboring gene G protein-coupled receptor kinase 6 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:21912641-21913197 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:21916347-21916850 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:21920736-21920939 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 52 Neighboring gene nitric oxide synthase-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:21951083-21951599 Neighboring gene RNA, 5S ribosomal pseudogene 25 Neighboring gene zinc finger DHHC-type palmitoyltransferase 20 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:21983937-21984794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5161 Neighboring gene uncharacterized LOC124903131 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5162 Neighboring gene H2B histone pseudogene 6

    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. Gene expression in proliferating human erythroid cells. Gubin AN, et al. Genomics, 1999 Jul 15. PMID 10409428
    2. Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. Del-Aguila JL, et al. Pharmacogenomics J, 2014 Feb. PMID 23400010, Free PMC Article
    3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Other Names

    • long intergenic non-protein coding RNA 539

    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.

    RNA

    1. NR_038939.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Neither transcript is thought to be protein-coding.
      Source sequence(s)
      AL139380, AL158032
      Related
      ENST00000700719.1

    2. NR_046461.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' end compared to variant 1. Neither transcript is thought to be protein-coding.
      Source sequence(s)
      AL136219, AL139380, AL158032
      Related
      ENST00000753171.1

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      21298125..21392923
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      20491203..20587260
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_029999.1: Suppressed sequence

      Description
      NG_029999.1: This RefSeq was permanently suppressed because there is sufficient evidence that this locus is transcribed.
    Nucleotide Protein
    Heading Accession and Version

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