U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    Heatr3 HEAT repeat containing 3 [ Mus musculus (house mouse) ]

    Gene ID: 234549, updated on 9-Dec-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    Heatr3provided by MGI
    Official Full Name
    HEAT repeat containing 3provided by MGI
    Primary source
    MGI:MGI:2444491
    See related
    Ensembl:ENSMUSG00000031657 AllianceGenome:MGI:2444491
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    C030036P15Rik
    Summary
    Predicted to enable unfolded protein binding activity. Predicted to be involved in erythrocyte maturation; protein import into nucleus; and ribosomal large subunit biogenesis. Human ortholog(s) of this gene implicated in Diamond-Blackfan anemia. Orthologous to human HEATR3 (HEAT repeat containing 3). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 13.1), limb E14.5 (RPKM 13.0) and 28 other tissues See more
    Orthologs
    human all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See Heatr3 in Genome Data Viewer
    Location:
    8 C3; 8 43.06 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (88864453..88901656)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (88137885..88171952)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene predicted gene 2716 Neighboring gene STARR-seq mESC enhancer starr_22226 Neighboring gene RAB11a, member RAS oncogene family pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E1765 Neighboring gene CTD nuclear envelope phosphatase 1 regulatory subunit 1 Neighboring gene microRNA 7071 Neighboring gene terminal nucleotidyltransferase 4B Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:90808880-90809067 Neighboring gene adenylate cyclase 7 Neighboring gene bromodomain containing 7

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Overlapping Activities of Two Neuronal Splicing Factors Switch the GABA Effect from Excitatory to Inhibitory by Regulating REST. Nakano Y, et al. Cell Rep, 2019 Apr 16. PMID 30995482, Free PMC Article
    2. Systematic identification of factors for provirus silencing in embryonic stem cells. Yang BX, et al. Cell, 2015 Sep 24. PMID 26365490, Free PMC Article
    3. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article
    4. The central role of EED in the orchestration of polycomb group complexes. Cao Q, et al. Nat Commun, 2014. PMID 24457600, Free PMC Article
    5. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

    Go to the top of the page Help

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (2) 

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables unfolded protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in erythrocyte maturation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in erythrocyte maturation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein import into nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein import into nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein import into nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in ribosomal large subunit biogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ribosomal large subunit biogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in ribosomal large subunit biogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    HEAT repeat-containing protein 3

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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_172757.3 → NP_766345.3  HEAT repeat-containing protein 3

      See identical proteins and their annotated locations for NP_766345.3

      Status: PROVISIONAL

      Source sequence(s)
      BC065060
      Consensus CDS
      CCDS22508.1
      UniProtKB/Swiss-Prot
      Q8BQM4, Q8C731
      UniProtKB/TrEMBL
      Q3USC0
      Related
      ENSMUSP00000034079.8, ENSMUST00000034079.14
      Conserved Domains (2) summary
      cd13394
      Location:2 → 672
      Syo1_like; Fungal symportin 1 (syo1) and similar proteins
      sd00043
      Location:69 → 108
      ARM; armadillo repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      88864453..88901656
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_004934819.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BQM4.1 GenPept UniProtKB/Swiss-Prot:Q8BQM4

    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
    Tools