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    HEATR1 HEAT repeat containing 1 [ Homo sapiens (human) ]

    Gene ID: 55127, updated on 10-Dec-2024

    Summary

    Official Symbol
    HEATR1provided by HGNC
    Official Full Name
    HEAT repeat containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25517
    See related
    Ensembl:ENSG00000119285 MIM:620390; AllianceGenome:HGNC:25517
    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
    BAP28; UTP10
    Summary
    Enables RNA binding activity. Involved in several processes, including positive regulation of RNA metabolic process; protein localization to nucleolus; and ribosomal small subunit biogenesis. Located in fibrillar center and mitochondrion. Part of small-subunit processome. Implicated in pancreatic ductal carcinoma. Biomarker of glioblastoma. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 12.5), appendix (RPKM 11.0) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See HEATR1 in Genome Data Viewer
    Location:
    1q43
    Exon count:
    45
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (236549005..236604516, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (235949959..236005476, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (236712305..236767816, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene EDAR associated via death domain Neighboring gene Sharpr-MPRA regulatory region 2344 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:236679601-236679779 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2004 Neighboring gene enolase 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 1811 Neighboring gene LGALS8 antisense RNA 1 Neighboring gene MPRA-validated peak785 silencer Neighboring gene galectin 8 Neighboring gene MPRA-validated peak786 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2825 Neighboring gene MPRA-validated peak787 silencer Neighboring gene control region 3 heart enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2005 Neighboring gene VISTA enhancer hs2135 Neighboring gene actinin alpha 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2826 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2827 Neighboring gene ribosomal protein SA pseudogene 21 Neighboring gene 5-methyltetrahydrofolate-homocysteine methyltransferase

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of HEAT repeat containing 1 (HEATR1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    integrase gag-pol HIV-1 IN is identified to have a physical interaction with HEAT repeat containing 1 (HEATR1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10359, MGC72083

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables snoRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of 90S preribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane HDA PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    part_of small-subunit processome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of small-subunit processome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of t-UTP complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    HEAT repeat-containing protein 1
    Names
    U3 small nucleolar RNA-associated protein 10 homolog
    UTP10, small subunit (SSU) processome component, homolog
    protein BAP28

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_018072.6NP_060542.4  HEAT repeat-containing protein 1

      See identical proteins and their annotated locations for NP_060542.4

      Status: VALIDATED

      Source sequence(s)
      AK095692, AL359921, BC035302, BC065205, BC130000, BC150614, DB067322
      Consensus CDS
      CCDS31066.1
      UniProtKB/Swiss-Prot
      Q5T3Q8, Q6P197, Q9H583, Q9NW23
      UniProtKB/TrEMBL
      B2RWN5
      Related
      ENSP00000355541.3, ENST00000366582.8
      Conserved Domains (2) summary
      smart01036
      Location:18572010
      BP28CT; BP28CT (NUC211) domain
      pfam12397
      Location:238354
      U3snoRNP10; U3 small nucleolar RNA-associated protein 10

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      236549005..236604516 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      235949959..236005476 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)