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    HEATR6 HEAT repeat containing 6 [ Homo sapiens (human) ]

    Gene ID: 63897, updated on 9-Dec-2024

    Summary

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    Official Symbol
    HEATR6provided by HGNC
    Official Full Name
    HEAT repeat containing 6provided by HGNC
    Primary source
    HGNC:HGNC:24076
    See related
    Ensembl:ENSG00000068097 AllianceGenome:HGNC:24076
    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
    ABC1
    Summary
    Enables RNA binding activity. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 3.1), testis (RPKM 3.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HEATR6 in Genome Data Viewer
    Location:
    17q23.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (60041008..60078921, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (60909740..60947875, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (58118369..58156282, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene TBC1D3P1-DHX40P1 readthrough, transcribed pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:58087919-58088418 Neighboring gene TBC1 domain family member 3 pseudogene 1 Neighboring gene uncharacterized LOC105371848 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12522 Neighboring gene Sharpr-MPRA regulatory region 13687 Neighboring gene microRNA 4737 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8786 Neighboring gene HEATR6 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12524 Neighboring gene WAP four-disulfide core domain 21, pseudogene Neighboring gene adaptor related protein complex 1 subunit sigma 2 pseudogene

    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. The 17q23 amplicon and breast cancer. Sinclair CS, et al. Breast Cancer Res Treat, 2003 Apr. PMID 12755490
    2. [The relationship between the expression of amplified in breast cancer 1、androgen receptor and tamoxifen resistance in breast cancer]. Liu N, et al. Zhonghua Yi Xue Za Zhi, 2023 May 30. PMID 37246005
    3. CTDP1 regulates breast cancer survival and DNA repair through BRCT-specific interactions with FANCI. Hu WF, et al. Cell Death Discov, 2019. PMID 31240132, Free PMC Article
    4. A negative genetic interaction map in isogenic cancer cell lines reveals cancer cell vulnerabilities. Vizeacoumar FJ, et al. Mol Syst Biol, 2013 Oct 8. PMID 24104479, Free PMC Article
    5. Targeting RICTOR Sensitizes SMAD4-Negative Colon Cancer to Irinotecan. Wong CK, et al. Mol Cancer Res, 2020 Mar. PMID 31932471, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. [The relationship between the expression of amplified in breast cancer 1androgen receptor and tamoxifen resistance in breast cancer].
      Title: [The relationship between the expression of amplified in breast cancer 1、androgen receptor and tamoxifen resistance in breast cancer].
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22087, MGC148096, DKFZp686D22141

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 

    General protein information

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    Preferred Names
    HEAT repeat-containing protein 6
    Names
    amplified in breast cancer 1
    amplified in breast cancer protein 1

    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_022070.5 → NP_071353.4  HEAT repeat-containing protein 6

      See identical proteins and their annotated locations for NP_071353.4

      Status: VALIDATED

      Source sequence(s)
      AC005702, AC025048
      Consensus CDS
      CCDS11623.1
      UniProtKB/Swiss-Prot
      B3KXP3, Q6AI08, Q6MZX1, Q6MZY2, Q8TDM9, Q9H6B3, Q9H6M7
      UniProtKB/TrEMBL
      K7EIX2
      Related
      ENSP00000184956.5, ENST00000184956.11
      Conserved Domains (3) summary
      pfam13251
      Location:418 → 599
      DUF4042; Domain of unknown function (DUF4042)
      pfam13513
      Location:830 → 883
      HEAT_EZ; HEAT-like repeat
      sd00044
      Location:810 → 843
      HEAT; HEAT repeat [structural motif]

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      60041008..60078921 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      60909740..60947875 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6AI08.1 GenPept UniProtKB/Swiss-Prot:Q6AI08

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
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