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    Heatr5a HEAT repeat containing 5A [ Mus musculus (house mouse) ]

    Gene ID: 320487, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Heatr5aprovided by MGI
    Official Full Name
    HEAT repeat containing 5Aprovided by MGI
    Primary source
    MGI:MGI:2444133
    See related
    Ensembl:ENSMUSG00000035181 AllianceGenome:MGI:2444133
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    mKIAA1316; C230081H03Rik; D930036F22Rik
    Summary
    Predicted to be involved in endocytosis; protein localization; and retrograde transport, endosome to Golgi. Predicted to be active in endocytic vesicle. Is expressed in several structures, including cranial ganglion; heart ventricle; medulla oblongata basal plate mantle layer; and neural retina. Orthologous to human HEATR5A (HEAT repeat containing 5A). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary adult (RPKM 9.1), limb E14.5 (RPKM 8.1) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Heatr5a in Genome Data Viewer
    Location:
    12; 12 C1
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (51922654..52018154, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (51875871..51971371, complement)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E3051 Neighboring gene cytochrome c oxidase subunit 7C, mitochondrial pseudogene Neighboring gene predicted gene, 34894 Neighboring gene STARR-seq mESC enhancer starr_32114 Neighboring gene STARR-seq mESC enhancer starr_32115 Neighboring gene STARR-seq mESC enhancer starr_32116 Neighboring gene D-tyrosyl-tRNA deacylase 2 Neighboring gene G protein-coupled receptor 33

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. A Role for Sensory end Organ-Derived Signals in Regulating Muscle Spindle Proprioceptor Phenotype. Wu D, et al. J Neurosci, 2019 May 29. PMID 30926747, Free PMC Article
    2. Microarray analysis of Foxa2 mutant mouse embryos reveals novel gene expression and inductive roles for the gastrula organizer and its derivatives. Tamplin OJ, et al. BMC Genomics, 2008 Oct 30. PMID 18973680, Free PMC Article
    3. Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Feb 28. PMID 12693553
    4. BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Stryke D, et al. Nucleic Acids Res, 2003 Jan 1. PMID 12520002, Free PMC Article
    5. Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray. Tanaka TS, et al. Proc Natl Acad Sci U S A, 2000 Aug 1. PMID 10922068, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde transport, endosome to Golgi IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endocytic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    HEAT repeat-containing protein 5A

    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_177171.4 → NP_796145.2  HEAT repeat-containing protein 5A

      See identical proteins and their annotated locations for NP_796145.2

      Status: VALIDATED

      Source sequence(s)
      AC157213, AC161114
      Consensus CDS
      CCDS25902.1
      UniProtKB/Swiss-Prot
      E9QPI0, Q3TT84, Q3V311, Q5PRF0, Q6P4S9, Q80TF2, Q8C8F7
      Related
      ENSMUSP00000043115.6, ENSMUST00000040583.7
      Conserved Domains (1) summary
      sd00044
      Location:97 → 121
      HEAT; HEAT 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_000078.7 Reference GRCm39 C57BL/6J

      Range
      51922654..52018154 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006516011.4 → XP_006516074.1  HEAT repeat-containing protein 5A isoform X2

      Conserved Domains (1) summary
      sd00044
      Location:97 → 121
      HEAT; HEAT repeat [structural motif]

    2. XM_006516012.4 → XP_006516075.1  HEAT repeat-containing protein 5A isoform X3

      Conserved Domains (1) summary
      sd00044
      Location:97 → 121
      HEAT; HEAT repeat [structural motif]

    3. XM_006516009.4 → XP_006516072.1  HEAT repeat-containing protein 5A isoform X1

      See identical proteins and their annotated locations for XP_006516072.1

      Conserved Domains (1) summary
      sd00044
      Location:97 → 121
      HEAT; HEAT repeat [structural motif]

    4. XM_030246778.2 → XP_030102638.1  HEAT repeat-containing protein 5A isoform X4

    5. XM_006516010.3 → XP_006516073.1  HEAT repeat-containing protein 5A isoform X1

      See identical proteins and their annotated locations for XP_006516073.1

      Conserved Domains (1) summary
      sd00044
      Location:97 → 121
      HEAT; HEAT repeat [structural motif]
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5PRF0.2 GenPept UniProtKB/Swiss-Prot:Q5PRF0

    Gene LinkOut

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

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