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    APRG1 APRG1 tumor suppressor candidate [ Homo sapiens (human) ]

    Gene ID: 339883, updated on 5-Mar-2024

    Summary

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    Official Symbol
    APRG1provided by HGNC
    Official Full Name
    APRG1 tumor suppressor candidateprovided by HGNC
    Primary source
    HGNC:HGNC:24082
    See related
    Ensembl:ENSG00000198590 MIM:611429; AllianceGenome:HGNC:24082
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C3orf35
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    Location:
    3p22.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (37381077..37435497)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (37382609..37437035)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (37422568..37476988)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene golgin A4 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:37339657-37340856 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:37343371-37344032 Neighboring gene transcription elongation factor A1 pseudogene 2 Neighboring gene MPRA-validated peak4611 silencer Neighboring gene RNA, 5S ribosomal pseudogene 129 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:37485219-37485403 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14199 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:37516063-37516575 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:37516576-37517087 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:37539704-37540204 Neighboring gene integrin subunit alpha 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:37579429-37579930 Neighboring gene RNA, U7 small nuclear 73 pseudogene Neighboring gene MPRA-validated peak4612 silencer Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:37734983-37735674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:37783057-37783865 Neighboring gene NANOG hESC enhancer GRCh37_chr3:37784268-37784945 Neighboring gene ribosomal protein L21 pseudogene 135

    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. Evidence for a tumour suppressive function of APRG1 in breast cancer. Leris AC, et al. Breast Cancer Res Treat, 2005 Sep. PMID 16187228
    2. Discovery of frequent homozygous deletions in chromosome 3p21.3 LUCA and AP20 regions in renal, lung and breast carcinomas. Senchenko VN, et al. Oncogene, 2004 Jul 29. PMID 15208675
    3. Deletion mapping using quantitative real-time PCR identifies two distinct 3p21.3 regions affected in most cervical carcinomas. Senchenko V, et al. Oncogene, 2003 May 15. PMID 12771950
    4. An integrated physical and gene map of the 3.5-Mb chromosome 3p21.3 (AP20) region implicated in major human epithelial malignancies. Protopopov A, et al. Cancer Res, 2003 Jan 15. PMID 12543795
    5. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. Fasci D, et al. Mol Cell Proteomics, 2018 Oct. PMID 30021884, Free PMC Article

    See all (7) 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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Other Names

    • AP20 region protein 1
    • AP20 region protein1

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    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_126512.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (A) contains an additional internal exon and uses an alternate splice site in the 3' terminal exon, compared to variant B. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant B, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC092055, AJ493599, AJ493601
      Related
      ENST00000332506.7

    2. NR_126513.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (C) lacks two internal exons and uses an alternate splice site in the 3' terminal exon, compared to variant B. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant B.
      Source sequence(s)
      AC092055, AJ493601

    3. NR_126514.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (D) lacks two internal exons, compared to variant B. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant B.
      Source sequence(s)
      AC092055, AJ493600, AJ493602

    4. NR_126515.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (F) lacks several 3' exons but contains an alternate 3' terminal exon, compared to variant B. This variant is represented as non-coding because it lacks the entire coding region found in variant B.
      Source sequence(s)
      AJ493601, AJ493604

    5. NR_171173.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC136290
      Related
      ENST00000665000.1

    6. NR_171174.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC136290

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      37381077..37435497
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791771.1 Reference GRCh38.p14 PATCHES

      Range
      4677..5336
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      37382609..37437035
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001302831.1: Suppressed sequence

      Description
      NM_001302831.1: This RefSeq was removed because it is now thought that this gene does not encode a protein.

    2. NM_001302832.1: Suppressed sequence

      Description
      NM_001302832.1: This RefSeq was removed because it is now thought that this gene does not encode a protein.

    3. NM_001387164.1: Suppressed sequence

      Description
      NM_001387164.1: This RefSeq was removed because it is now thought that this gene does not encode a protein.

    4. NM_178339.2: Suppressed sequence

      Description
      NM_178339.2: This RefSeq was removed because it is now thought that this gene does not encode a protein.

    5. NM_178342.2: Suppressed sequence

      Description
      NM_178342.2: This RefSeq was removed because it is now thought that this gene does not encode a protein.

    6. NM_178344.2: Suppressed sequence

      Description
      NM_178344.2: This RefSeq was removed because it is now thought that this gene does not encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IVJ8.2 GenPept UniProtKB/Swiss-Prot:Q8IVJ8

    Gene LinkOut

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

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