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

Gene ID: 320487, updated on 2-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 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

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