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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 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)

Genotypes

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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