Heatr1 HEAT repeat containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Heatr1provided by MGI
Official Full Name: HEAT repeat containing 1provided by MGI
Primary source: MGI:MGI:2442524
See related: Ensembl:ENSMUSG00000050244 AllianceGenome:MGI:2442524
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: B130016L12Rik
Summary: Predicted to enable snoRNA binding activity. Predicted to be involved in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); positive regulation of rRNA processing; and positive regulation of transcription by RNA polymerase I. Predicted to be located in fibrillar center and mitochondrion. Predicted to be part of 90S preribosome; small-subunit processome; and t-UTP complex. Is expressed in several structures, including brain ventricular layer; pectoral girdle and thoracic body wall muscle; physiological umbilical hernia; submandibular gland primordium; and thymus primordium. Human ortholog(s) of this gene implicated in pancreatic ductal carcinoma. Orthologous to human HEATR1 (HEAT repeat containing 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 6.1), liver E14 (RPKM 3.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 A1; 13 4.56 cM

Exon count:: 45

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (12410256..12453774)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (12395375..12438893)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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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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 snoRNA binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of rRNA processing	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase I	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase I	ISO Inferred from Sequence Orthology more info
involved_in ribosomal small subunit biogenesis	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of 90S preribosome	IBA Inferred from Biological aspect of Ancestor more info
located_in fibrillar center	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
part_of small-subunit processome	IBA Inferred from Biological aspect of Ancestor more info
part_of small-subunit processome	ISO Inferred from Sequence Orthology more info
part_of t-UTP complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: HEAT repeat-containing protein 1

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_144835.4 → NP_659084.3 HEAT repeat-containing protein 1

See identical proteins and their annotated locations for NP_659084.3

Status: VALIDATED

Source sequence(s)

AC154221

Consensus CDS

CCDS26240.1

UniProtKB/TrEMBL

G3X9B1

Related

ENSMUSP00000054084.9, ENSMUST00000059270.10

Conserved Domains (2) summary

smart01036
Location:1856 → 2009

BP28CT; BP28CT (NUC211) domain

pfam12397
Location:238 → 354

U3snoRNP10; U3 small nucleolar RNA-associated protein 10