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

Summary

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, Nov 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
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Genomic context

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_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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Preferred Names: HEAT repeat-containing protein 3

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)

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]