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    ATP6AP1L ATPase H+ transporting accessory protein 1 like (pseudogene) [ Homo sapiens (human) ]

    Gene ID: 92270, updated on 9-Dec-2024

    Summary

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    Official Symbol
    ATP6AP1Lprovided by HGNC
    Official Full Name
    ATPase H+ transporting accessory protein 1 like (pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:28091
    See related
    AllianceGenome:HGNC:28091
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable ATPase activator activity. Predicted to be involved in regulation of cellular pH. Predicted to be located in membrane. Predicted to be part of proton-transporting V-type ATPase complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 1.6), skin (RPKM 1.0) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ATP6AP1L in Genome Data Viewer
    Location:
    5q14.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (82278650..82318806)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (82764440..82804585)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (81574469..81614625)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene autophagy related 10 Neighboring gene RNA, 7SL, cytoplasmic 378, pseudogene Neighboring gene Sharpr-MPRA regulatory region 9633 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22735 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:81569855-81570549 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:81570550-81571243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22736 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:81590121-81590923 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:81589318-81590120 Neighboring gene ribosomal protein S23 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:81648113-81649312 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:81652406-81653605 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:81661015-81662214 Neighboring gene uncharacterized LOC124901019 Neighboring gene MPRA-validated peak5317 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:81819418-81819955 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:81839635-81840222 Neighboring gene NANOG hESC enhancer GRCh37_chr5:81886910-81887451 Neighboring gene uncharacterized LOC105379050

    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. An analysis of gene expression in PTSD implicates genes involved in the glucocorticoid receptor pathway and neural responses to stress. Logue MW, et al. Psychoneuroendocrinology, 2015 Jul. PMID 25867994, Free PMC Article
    2. Identification of genes related to Parkinson's disease using expressed sequence tags. Kim JM, et al. DNA Res, 2006 Dec 31. PMID 17213182
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. found significant associations with PTSD for 7 of the 41 (p<0.05), one of which (ATP6AP1L) survived multiple-testing correction
      Title: An analysis of gene expression in PTSD implicates genes involved in the glucocorticoid receptor pathway and neural responses to stress.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Homology

    Other Names

    • ATPase, H+ transporting, lysosomal accessory protein 1-like
    • V-type proton ATPase subunit S1-like protein
    • vacuolar proton pump subunit S1-like protein

    Clone Names

    • FLJ41309, MGC138396

    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_169868.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010598

    2. NR_169870.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010598

    3. NR_169871.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010598

    4. NR_172106.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010598

    5. NR_172107.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010598

    6. NR_172108.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010598

    7. NR_172109.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010598

    8. NR_172110.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010598

    9. NR_172111.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010598

    10. NR_172112.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010598

    11. NR_172113.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010598

    12. NR_172114.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010598

    13. NR_172115.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010598

    14. NR_172116.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010598

    15. NR_172117.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010598

    16. NR_172118.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010598

    17. NR_172119.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010598

    18. NR_172120.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010598

    19. NR_172121.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010598

    20. NR_172122.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010598

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      82278650..82318806
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      82764440..82804585
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001017971.4: Suppressed sequence

      Description
      NM_001017971.4: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    2. NM_001039779.1: Suppressed sequence

      Description
      NM_001039779.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    3. NM_001349371.3: Suppressed sequence

      Description
      NM_001349371.3: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    4. NM_001349372.3: Suppressed sequence

      Description
      NM_001349372.3: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    5. NM_001349373.3: Suppressed sequence

      Description
      NM_001349373.3: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    6. NM_001349374.3: Suppressed sequence

      Description
      NM_001349374.3: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    7. NM_001386086.1: Suppressed sequence

      Description
      NM_001386086.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    8. NM_001386087.1: Suppressed sequence

      Description
      NM_001386087.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    9. NM_001386089.1: Suppressed sequence

      Description
      NM_001386089.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    10. NM_001386090.1: Suppressed sequence

      Description
      NM_001386090.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    11. NM_001386091.1: Suppressed sequence

      Description
      NM_001386091.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    12. NM_001386092.1: Suppressed sequence

      Description
      NM_001386092.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    13. NM_001386097.1: Suppressed sequence

      Description
      NM_001386097.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    14. NM_001386099.1: Suppressed sequence

      Description
      NM_001386099.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    15. NM_001386101.1: Suppressed sequence

      Description
      NM_001386101.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    16. NM_001386102.1: Suppressed sequence

      Description
      NM_001386102.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    17. NM_001386103.1: Suppressed sequence

      Description
      NM_001386103.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    18. NM_001386105.1: Suppressed sequence

      Description
      NM_001386105.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    19. NM_001386107.1: Suppressed sequence

      Description
      NM_001386107.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    20. NM_001386110.1: Suppressed sequence

      Description
      NM_001386110.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    21. NM_001386111.1: Suppressed sequence

      Description
      NM_001386111.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    22. NM_001386114.1: Suppressed sequence

      Description
      NM_001386114.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    23. NM_001386115.1: Suppressed sequence

      Description
      NM_001386115.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    24. NM_001386116.1: Suppressed sequence

      Description
      NM_001386116.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    25. NM_001386117.1: Suppressed sequence

      Description
      NM_001386117.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    26. NM_001386118.1: Suppressed sequence

      Description
      NM_001386118.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    27. NM_001386119.1: Suppressed sequence

      Description
      NM_001386119.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    28. NM_001386120.1: Suppressed sequence

      Description
      NM_001386120.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    29. NM_001386121.1: Suppressed sequence

      Description
      NM_001386121.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    30. NM_001386122.1: Suppressed sequence

      Description
      NM_001386122.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    31. NM_001386123.1: Suppressed sequence

      Description
      NM_001386123.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.

    32. NM_001386124.1: Suppressed sequence

      Description
      NM_001386124.1: This RefSeq was removed because it is now thought that this gene is a pseudogene.
    Nucleotide Protein
    Heading Accession and Version

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