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    ATP5MF-PTCD1 ATP5MF-PTCD1 readthrough [ Homo sapiens (human) ]

    Gene ID: 100526740, updated on 27-Aug-2024

    Summary

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    Official Symbol
    ATP5MF-PTCD1provided by HGNC
    Official Full Name
    ATP5MF-PTCD1 readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:38844
    See related
    Ensembl:ENSG00000248919 AllianceGenome:HGNC:38844
    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
    ATP5J2-PTCD1
    Summary
    This locus represents naturally occurring read-through transcription between the ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and PTCD1 (pentatricopeptide repeat domain 1) genes on chromosome 7. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010]
    Expression
    Ubiquitous expression in testis (RPKM 7.9), colon (RPKM 7.0) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    7q22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (99416739..99466167, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (100655640..100705074, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99014362..99063790, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901707 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18409 Neighboring gene BUD31 homolog Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99020619-99021120 Neighboring gene pentatricopeptide repeat domain 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99027477-99028073 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:99032915-99033062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99034189-99034714 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18410 Neighboring gene SAP domain containing ribonucleoprotein pseudogene Neighboring gene cleavage and polyadenylation specific factor 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99049670-99050230 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99053345-99054147 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99058948-99059448 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99062959-99063576 Neighboring gene ATP synthase membrane subunit f Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99063577-99064192 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26317 Neighboring gene tRNA-Trp (anticodon CCA) 5-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26319 Neighboring gene zinc finger protein 789 Neighboring gene zinc finger protein 394

    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. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. Prakash T, et al. PLoS One, 2010 Oct 12. PMID 20967262, Free PMC Article
    2. mTORC1 activity regulates post-translational modifications of glycine decarboxylase to modulate glycine metabolism and tumorigenesis. Liu R, et al. Nat Commun, 2021 Jul 9. PMID 34244482, Free PMC Article
    3. The p300/YY1/miR-500a-5p/HDAC2 signalling axis regulates cell proliferation in human colorectal cancer. Tang W, et al. Nat Commun, 2019 Feb 8. PMID 30737378, Free PMC Article
    4. Loss of TRIM31 promotes breast cancer progression through regulating K48- and K63-linked ubiquitination of p53. Guo Y, et al. Cell Death Dis, 2021 Oct 14. PMID 34650049, Free PMC Article
    5. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948

    See all (19) 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ56092

    General protein information

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    Preferred Names
    ATP5J2-PTCD1 fusion protein
    Names
    ATP5J2-PTCD1 read-through transcript
    ATP5J2-PTCD1 readthrough

    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_001198879.2 → NP_001185808.1  ATP5J2-PTCD1 fusion protein

      Status: VALIDATED

      Source sequence(s)
      AC004922, AC073063, AK295912
      UniProtKB/TrEMBL
      B4DJ38, G3V325
      Related
      ENSP00000400168.1, ENST00000413834.5
      Conserved Domains (4) summary
      TIGR00756
      Location:225 → 257
      PPR; pentatricopeptide repeat domain (PPR motif)
      sd00004
      Location:225 → 251
      PPR; PPR repeat [structural motif]
      pfam10206
      Location:8 → 41
      WRW; Mitochondrial F1F0-ATP synthase, subunit f
      pfam13041
      Location:602 → 645
      PPR_2; PPR repeat 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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      99416739..99466167 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      100655640..100705074 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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    Research Materials