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

Gene ID: 55127, updated on 10-Dec-2024

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, Dec 2024]
Expression
Ubiquitous expression in testis (RPKM 12.5), appendix (RPKM 11.0) and 25 other tissues See more
Orthologs
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Genomic context

See HEATR1 in Genome Data Viewer
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_000001.11Genomic Context describing neighboring genes Neighboring gene EDAR associated via death domain Neighboring gene Sharpr-MPRA regulatory region 2344 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:236679601-236679779 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2004 Neighboring gene enolase 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 1811 Neighboring gene LGALS8 antisense RNA 1 Neighboring gene MPRA-validated peak785 silencer Neighboring gene galectin 8 Neighboring gene MPRA-validated peak786 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2825 Neighboring gene MPRA-validated peak787 silencer Neighboring gene control region 3 heart enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2005 Neighboring gene VISTA enhancer hs2135 Neighboring gene actinin alpha 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2826 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2827 Neighboring gene ribosomal protein SA pseudogene 21 Neighboring gene 5-methyltetrahydrofolate-homocysteine methyltransferase

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ10359, MGC72083

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables snoRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 
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 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

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)

  1. NM_018072.6NP_060542.4  HEAT repeat-containing protein 1

    See identical proteins and their annotated locations for NP_060542.4

    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:18572010
    BP28CT; BP28CT (NUC211) domain
    pfam12397
    Location:238354
    U3snoRNP10; U3 small nucleolar RNA-associated protein 10

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    236549005..236604516 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    235949959..236005476 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)