Human Gene HEATR1 (ENST00000366582.8_7) from GENCODE V47lift37

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Description: HEAT repeat containing 1 (from RefSeq NM_018072.6)
Gencode Transcript: ENST00000366582.8_7
Gencode Gene: ENSG00000119285.11_10
Transcript (Including UTRs)
Position: hg19 chr1:236,712,305-236,767,816 Size: 55,512 Total Exon Count: 45 Strand: -
Coding Region
Position: hg19 chr1:236,714,202-236,767,395 Size: 53,194 Coding Exon Count: 44

Page Index	Sequence and Links	UniProtKB Comments	Primers	CTD	Gene Alleles
RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species	GO Annotations
mRNA Descriptions	Pathways	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr1:236,712,305-236,767,816)			mRNA (may differ from genome)		Protein (2144 aa)
Gene Sorter	Genome Browser	Other Species FASTA	Gene interactions	Table Schema	AlphaFold
BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards	HGNC
MGI	PubMed	Reactome	UniProtKB	Wikipedia	BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: HEAT1_HUMAN DESCRIPTION: RecName: Full=HEAT repeat-containing protein 1; AltName: Full=Protein BAP28; FUNCTION: Involved in nucleolar processing of pre-18S ribosomal RNA. Involved in ribosome biosynthesis (By similarity). INTERACTION: Q76353:- (xeno); NbExp=3; IntAct=EBI-1048716, EBI-6248077; SUBCELLULAR LOCATION: Nucleus, nucleolus. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. SIMILARITY: Belongs to the HEATR1/UTP10 family. SIMILARITY: Contains 1 HEAT repeat. SEQUENCE CAUTION: Sequence=BAA91564.1; Type=Erroneous initiation;

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene D000082 Acetaminophen C016403 2,4-dinitrotoluene C023514 2,6-dinitrotoluene C035207 4-amino-2,6-dinitrotoluene D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide D001564 Benzo(a)pyrene D016572 Cyclosporine D004041 Dietary Fats D004958 Estradiol D005839 Gentamicins D006861 Hydrogen Peroxide D008070 Lipopolysaccharides D008345 Manganese D011794 Quercetin D018038 Sodium Selenite D013749 Tetrachlorodibenzodioxin D024483 Vitamin K 3 C006780 bisphenol A C018021 cobaltous chloride C028007 nickel monoxide C041786 palm oil C016104 sodium bichromate D020122 tert-Butylhydroperoxide C015559 trimellitic anhydride

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 16.85 RPKM in Cells - EBV-transformed lymphocytes Total median expression: 224.65 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

Microarray Expression Data


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-31.10	127	-0.245	Picture	PostScript	Text
3' UTR	-458.60	1897	-0.242	Picture	PostScript	Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR012954 - BP28_C_dom
IPR022125 - U3snoRNP10

Pfam Domains:
PF08146 - BP28CT (NUC211) domain
PF12397 - U3 small nucleolar RNA-associated protein 10

SCOP Domains:
48371 - ARM repeat
48431 - Lipovitellin-phosvitin complex, superhelical domain

ModBase Predicted Comparative 3D Structure on Q9H583


Front	Top	Side

The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

Orthologous Genes in Other Species

Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	Genome Browser	No ortholog
Gene Details			Gene Details	Gene Details
Gene Sorter			Gene Sorter	Gene Sorter
		Ensembl		WormBase
				Protein Sequence
				Alignment

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0003723 RNA binding GO:0005515 protein binding GO:0030515 snoRNA binding Biological Process: GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006364 rRNA processing GO:0042254 ribosome biogenesis GO:0045943 positive regulation of transcription from RNA polymerase I promoter GO:2000234 positive regulation of rRNA processing Cellular Component: GO:0001650 fibrillar center GO:0005634 nucleus GO:0005654 nucleoplasm GO:0005730 nucleolus GO:0005739 mitochondrion GO:0016020 membrane GO:0030686 90S preribosome GO:0032040 small-subunit processome GO:0034455 t-UTP complex

Descriptions from all associated GenBank mRNAs


	LF209683 - JP 2014500723-A/17186: Polycomb-Associated Non-Coding RNAs. BC065205 - Homo sapiens HEAT repeat containing 1, mRNA (cDNA clone IMAGE:5498897), partial cds. AK304129 - Homo sapiens cDNA FLJ53502 complete cds, highly similar to HEAT repeat-containing protein 1. AK001221 - Homo sapiens cDNA FLJ10359 fis, clone NT2RM2001243. AK098212 - Homo sapiens cDNA FLJ40893 fis, clone UTERU2001607. AK316413 - Homo sapiens cDNA, FLJ79312 complete cds, highly similar to HEAT repeat-containing protein 1. BC011983 - Homo sapiens HEAT repeat containing 1, mRNA (cDNA clone IMAGE:3863792), complete cds. BC035302 - Homo sapiens HEAT repeat containing 1, mRNA (cDNA clone IMAGE:3881354). AK125663 - Homo sapiens cDNA FLJ43675 fis, clone SYNOV4008440, highly similar to HEAT repeat-containing protein 1. BC130000 - Homo sapiens HEAT repeat containing 1, mRNA (cDNA clone IMAGE:40128210), partial cds. BC150614 - Homo sapiens HEAT repeat containing 1, mRNA (cDNA clone MGC:183524 IMAGE:9056984), complete cds. KJ902769 - Synthetic construct Homo sapiens clone ccsbBroadEn_12163 HEATR1 gene, encodes complete protein. AB385226 - Synthetic construct DNA, clone: pF1KB9468, Homo sapiens HEATR1 gene for HEAT repeat-containing protein 1, complete cds, without stop codon, in Flexi system. CU680146 - Synthetic construct Homo sapiens gateway clone IMAGE:100019053 5' read HEATR1 mRNA. MA445260 - JP 2018138019-A/17186: Polycomb-Associated Non-Coding RNAs. LF330882 - JP 2014500723-A/138385: Polycomb-Associated Non-Coding RNAs. JD291267 - Sequence 272291 from Patent EP1572962. LF330881 - JP 2014500723-A/138384: Polycomb-Associated Non-Coding RNAs. LF330879 - JP 2014500723-A/138382: Polycomb-Associated Non-Coding RNAs. MA566459 - JP 2018138019-A/138385: Polycomb-Associated Non-Coding RNAs. MA566458 - JP 2018138019-A/138384: Polycomb-Associated Non-Coding RNAs. MA566456 - JP 2018138019-A/138382: Polycomb-Associated Non-Coding RNAs. DQ585432 - Homo sapiens piRNA piR-52544, complete sequence. LF330878 - JP 2014500723-A/138381: Polycomb-Associated Non-Coding RNAs. LF330877 - JP 2014500723-A/138380: Polycomb-Associated Non-Coding RNAs. LF330875 - JP 2014500723-A/138378: Polycomb-Associated Non-Coding RNAs. LF330874 - JP 2014500723-A/138377: Polycomb-Associated Non-Coding RNAs. LF330871 - JP 2014500723-A/138374: Polycomb-Associated Non-Coding RNAs. LF330870 - JP 2014500723-A/138373: Polycomb-Associated Non-Coding RNAs. LF330869 - JP 2014500723-A/138372: Polycomb-Associated Non-Coding RNAs. AK001857 - Homo sapiens cDNA FLJ10995 fis, clone PLACE1002170. LF330867 - JP 2014500723-A/138370: Polycomb-Associated Non-Coding RNAs. LF330866 - JP 2014500723-A/138369: Polycomb-Associated Non-Coding RNAs. LF330864 - JP 2014500723-A/138367: Polycomb-Associated Non-Coding RNAs. LF330863 - JP 2014500723-A/138366: Polycomb-Associated Non-Coding RNAs. LF330862 - JP 2014500723-A/138365: Polycomb-Associated Non-Coding RNAs. LF330861 - JP 2014500723-A/138364: Polycomb-Associated Non-Coding RNAs. AK095692 - Homo sapiens cDNA FLJ38373 fis, clone FEBRA2002527. LF330860 - JP 2014500723-A/138363: Polycomb-Associated Non-Coding RNAs. LF330858 - JP 2014500723-A/138361: Polycomb-Associated Non-Coding RNAs. LF330857 - JP 2014500723-A/138360: Polycomb-Associated Non-Coding RNAs. LF330856 - JP 2014500723-A/138359: Polycomb-Associated Non-Coding RNAs. LF330855 - JP 2014500723-A/138358: Polycomb-Associated Non-Coding RNAs. BC062442 - Homo sapiens HEAT repeat containing 1, mRNA (cDNA clone IMAGE:30318425), complete cds. KJ902770 - Synthetic construct Homo sapiens clone ccsbBroadEn_12164 HEATR1 gene, encodes complete protein. LF330854 - JP 2014500723-A/138357: Polycomb-Associated Non-Coding RNAs. LF330852 - JP 2014500723-A/138355: Polycomb-Associated Non-Coding RNAs. LF330851 - JP 2014500723-A/138354: Polycomb-Associated Non-Coding RNAs. JD494844 - Sequence 475868 from Patent EP1572962. LF330850 - JP 2014500723-A/138353: Polycomb-Associated Non-Coding RNAs. JD489962 - Sequence 470986 from Patent EP1572962. MA566455 - JP 2018138019-A/138381: Polycomb-Associated Non-Coding RNAs. MA566454 - JP 2018138019-A/138380: Polycomb-Associated Non-Coding RNAs. MA566452 - JP 2018138019-A/138378: Polycomb-Associated Non-Coding RNAs. MA566451 - JP 2018138019-A/138377: Polycomb-Associated Non-Coding RNAs. MA566448 - JP 2018138019-A/138374: Polycomb-Associated Non-Coding RNAs. MA566447 - JP 2018138019-A/138373: Polycomb-Associated Non-Coding RNAs. MA566446 - JP 2018138019-A/138372: Polycomb-Associated Non-Coding RNAs. MA566444 - JP 2018138019-A/138370: Polycomb-Associated Non-Coding RNAs. MA566443 - JP 2018138019-A/138369: Polycomb-Associated Non-Coding RNAs. MA566441 - JP 2018138019-A/138367: Polycomb-Associated Non-Coding RNAs. MA566440 - JP 2018138019-A/138366: Polycomb-Associated Non-Coding RNAs. MA566439 - JP 2018138019-A/138365: Polycomb-Associated Non-Coding RNAs. MA566438 - JP 2018138019-A/138364: Polycomb-Associated Non-Coding RNAs. MA566437 - JP 2018138019-A/138363: Polycomb-Associated Non-Coding RNAs. MA566435 - JP 2018138019-A/138361: Polycomb-Associated Non-Coding RNAs. MA566434 - JP 2018138019-A/138360: Polycomb-Associated Non-Coding RNAs. MA566433 - JP 2018138019-A/138359: Polycomb-Associated Non-Coding RNAs. MA566432 - JP 2018138019-A/138358: Polycomb-Associated Non-Coding RNAs. MA566431 - JP 2018138019-A/138357: Polycomb-Associated Non-Coding RNAs. MA566429 - JP 2018138019-A/138355: Polycomb-Associated Non-Coding RNAs. MA566428 - JP 2018138019-A/138354: Polycomb-Associated Non-Coding RNAs. MA566427 - JP 2018138019-A/138353: Polycomb-Associated Non-Coding RNAs.

Biochemical and Signaling Pathways


	Reactome (by CSHL, EBI, and GO) Protein Q9H583 (Reactome details) participates in the following event(s): R-HSA-6790906 EMG1 of the SSU processome methylates pseudouridine-1248 of 18S rRNA yielding N(1)-methylpseudouridine-1248 R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol R-HSA-6790901 rRNA modification in the nucleus and cytosol R-HSA-8868773 rRNA processing in the nucleus and cytosol R-HSA-72312 rRNA processing R-HSA-8953854 Metabolism of RNA

Other Names for This Gene


	Alternate Gene Symbols: BAP28, ENST00000366582.1, ENST00000366582.2, ENST00000366582.3, ENST00000366582.4, ENST00000366582.5, ENST00000366582.6, ENST00000366582.7, HEAT1_HUMAN, HEATR1 , NM_018072, Q5T3Q8, Q6P197, Q9H583, Q9NW23, uc318ffa.1, uc318ffa.2, UTP10 UCSC ID: ENST00000366582.8_7 RefSeq Accession: NM_018072.6 Protein: Q9H583 (aka HEAT1_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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