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

Gene ID: 63897, updated on 5-Mar-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, Apr 2022]
Expression
Ubiquitous expression in ovary (RPKM 3.1), testis (RPKM 3.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
17q23.1
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (60041008..60078921, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (60909740..60947875, complement)
105.20220307 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 (25) 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)

Genotypes

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_2023_10

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.

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