HEATR1 HEAT repeat containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HEATR1provided by HGNC
Official Full Name: HEAT repeat containing 1provided by HGNC
Primary source: HGNC:HGNC:25517
See related: Ensembl:ENSG00000119285 MIM:620390; AllianceGenome:HGNC:25517
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BAP28; UTP10
Summary: Enables RNA binding activity. Involved in several processes, including positive regulation of RNA metabolic process; protein localization to nucleolus; and ribosomal small subunit biogenesis. Located in fibrillar center and mitochondrion. Part of small-subunit processome. Implicated in pancreatic ductal carcinoma. Biomarker of glioblastoma. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 12.5), appendix (RPKM 11.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q43

Exon count:: 45

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (236549005..236604516, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (235949959..236005476, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (236712305..236767816, complement)

Chromosome 1 - NC_000001.11 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ribogenesis boosts controlled by HEATR1-MYC interplay promote transition into brain tumour growth.
Title: Ribogenesis boosts controlled by HEATR1-MYC interplay promote transition into brain tumour growth.
Nucleolar HEAT Repeat Containing 1 Up-regulated by the Mechanistic Target of Rapamycin Complex 1 Signaling Promotes Hepatocellular Carcinoma Growth by Dominating Ribosome Biogenesis and Proteome Homeostasis.
Title: Nucleolar HEAT Repeat Containing 1 Up-regulated by the Mechanistic Target of Rapamycin Complex 1 Signaling Promotes Hepatocellular Carcinoma Growth by Dominating Ribosome Biogenesis and Proteome Homeostasis.
HEATR1, a novel interactor of Pontin/Reptin, stabilizes Pontin/Reptin and promotes cell proliferation of oral squamous cell carcinoma.
Title: HEATR1, a novel interactor of Pontin/Reptin, stabilizes Pontin/Reptin and promotes cell proliferation of oral squamous cell carcinoma.
HEATR1 deficiency promotes pancreatic cancer proliferation and gemcitabine resistance by up-regulating Nrf2 signaling.
Title: HEATR1 deficiency promotes pancreatic cancer proliferation and gemcitabine resistance by up-regulating Nrf2 signaling.
HEATR1 promotes proliferation in gastric cancer in vitro and in vivo.
Title: HEATR1 promotes proliferation in gastric cancer in vitro and in vivo.
These findings reveal an important role for HEATR1 in ribosome biogenesis.
Title: Perturbation of RNA Polymerase I transcription machinery by ablation of HEATR1 triggers the RPL5/RPL11-MDM2-p53 ribosome biogenesis stress checkpoint pathway in human cells.
Glioma-associated antigen HEATR1 induces functional cytotoxic T lymphocytes in patients with glioma.
Title: Glioma-associated antigen HEATR1 induces functional cytotoxic T lymphocytes in patients with glioma.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of HEAT repeat containing 1 (HEATR1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
integrase	gag-pol	HIV-1 IN is identified to have a physical interaction with HEAT repeat containing 1 (HEATR1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC34592 (e-PCR)
- UniSTS:22023

G60376 (e-PCR)
- UniSTS:137483

SHGC-76571 (e-PCR)
- UniSTS:15930

WI-20466 (e-PCR)
- UniSTS:1356

AL010072 (e-PCR)
- UniSTS:60508

D1S2293 (e-PCR)
- UniSTS:153694

RH103053 (e-PCR)
- UniSTS:97387

G20229 (e-PCR)
- UniSTS:1140

A005A42 (e-PCR)
- UniSTS:1141

D1F299S1 (e-PCR)
- UniSTS:157827

HSCZVH012 (e-PCR)
- UniSTS:45747

WI-12386 (e-PCR)
- UniSTS:61369

RH16350 (e-PCR)
- UniSTS:67793

SHGC-76570 (e-PCR)
- UniSTS:66517

SHGC-32054 (e-PCR)
- UniSTS:21480

RH68829 (e-PCR)
- UniSTS:7921

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
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 neural precursor cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of rRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to nucleolus	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of rRNA metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ribosomal small subunit biogenesis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of 90S preribosome	IBA Inferred from Biological aspect of Ancestor more info
located_in fibrillar center	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of small-subunit processome	IBA Inferred from Biological aspect of Ancestor more info
part_of small-subunit processome	IDA Inferred from Direct Assay more info	PubMed
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

Names: U3 small nucleolar RNA-associated protein 10 homolog; UTP10, small subunit (SSU) processome component, homolog; protein BAP28

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_018072.6 → NP_060542.4 HEAT repeat-containing protein 1

Status: VALIDATED

Source sequence(s)

AK095692, AL359921, BC035302, BC065205, BC130000, BC150614, DB067322

Consensus CDS

CCDS31066.1

UniProtKB/Swiss-Prot

Q5T3Q8, Q6P197, Q9H583, Q9NW23

UniProtKB/TrEMBL

B2RWN5

Related

ENSP00000355541.3, ENST00000366582.8

Conserved Domains (2) summary

smart01036
Location:1857 → 2010

BP28CT; BP28CT (NUC211) domain

pfam12397
Location:238 → 354

U3snoRNP10; U3 small nucleolar RNA-associated protein 10