Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HEATR1 Gene

Aliases for HEATR1 Gene

  • HEAT Repeat Containing 1 2 3
  • Protein BAP28 3 4
  • UTP10 2 3
  • BAP28 3 4
  • UTP10, Small Subunit (SSU) Processome Component, Homolog 3
  • Small Subunit (SSU) Processome Component 2
  • HEAT Repeat-Containing Protein 1 3
  • Homolog (Yeast) 2
  • EC 4.1.1.31 63
  • EC 6.3.4.4 63

External Ids for HEATR1 Gene

Previous GeneCards Identifiers for HEATR1 Gene

  • GC01M233039
  • GC01M234778
  • GC01M236712
  • GC01M207169

Summaries for HEATR1 Gene

GeneCards Summary for HEATR1 Gene

HEATR1 (HEAT Repeat Containing 1) is a Protein Coding gene. Among its related pathways are Ribosome biogenesis in eukaryotes.

UniProtKB/Swiss-Prot for HEATR1 Gene

  • Involved in nucleolar processing of pre-18S ribosomal RNA. Involved in ribosome biosynthesis (By similarity).

Gene Wiki entry for HEATR1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEATR1 Gene

Genomics for HEATR1 Gene

Regulatory Elements for HEATR1 Gene

Genomic Location for HEATR1 Gene

Start:
236,536,162 bp from pter
End:
236,604,541 bp from pter
Size:
68,380 bases
Orientation:
Minus strand

Genomic View for HEATR1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HEATR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEATR1 Gene

Proteins for HEATR1 Gene

  • Protein details for HEATR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H583-HEAT1_HUMAN
    Recommended name:
    HEAT repeat-containing protein 1
    Protein Accession:
    Q9H583
    Secondary Accessions:
    • Q5T3Q8
    • Q6P197
    • Q9NW23

    Protein attributes for HEATR1 Gene

    Size:
    2144 amino acids
    Molecular mass:
    242370 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91564.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for HEATR1 Gene

Proteomics data for HEATR1 Gene at MOPED

Selected DME Specific Peptides for HEATR1 Gene

Post-translational modifications for HEATR1 Gene

  • Ubiquitination at Lys1483, Lys1575, and Lys1643
  • Modification sites at PhosphoSitePlus

Other Protein References for HEATR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for HEATR1 Gene

Protein Domains for HEATR1 Gene

Suggested Antigen Peptide Sequences for HEATR1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H583

UniProtKB/Swiss-Prot:

HEAT1_HUMAN :
  • Q9H583
Family:
  • Belongs to the HEATR1/UTP10 family.
Similarity:
  • Contains 1 HEAT repeat.
genes like me logo Genes that share domains with HEATR1: view

No data available for Gene Families for HEATR1 Gene

Function for HEATR1 Gene

Molecular function for HEATR1 Gene

UniProtKB/Swiss-Prot Function: Involved in nucleolar processing of pre-18S ribosomal RNA. Involved in ribosome biosynthesis (By similarity).

Enzyme Numbers (IUBMB) for HEATR1 Gene

Gene Ontology (GO) - Molecular Function for HEATR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
GO:0005515 protein binding IPI 22190034
GO:0030515 snoRNA binding IBA --
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with HEATR1: view
genes like me logo Genes that share phenotypes with HEATR1: view

miRNA for HEATR1 Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for HEATR1 Gene

Localization for HEATR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEATR1 Gene

Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HEATR1 Gene COMPARTMENTS Subcellular localization image for HEATR1 gene
Compartment Confidence
nucleus 5
mitochondrion 4
plasma membrane 3
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HEATR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IDA --
GO:0016020 membrane IDA 19946888
GO:0030529 ribonucleoprotein complex --
genes like me logo Genes that share ontologies with HEATR1: view

Pathways for HEATR1 Gene

genes like me logo Genes that share pathways with HEATR1: view

Pathways by source for HEATR1 Gene

1 KEGG pathway for HEATR1 Gene

Gene Ontology (GO) - Biological Process for HEATR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA --
GO:0006364 rRNA processing --
GO:0045943 positive regulation of transcription from RNA polymerase I promoter IBA --
genes like me logo Genes that share ontologies with HEATR1: view

Transcripts for HEATR1 Gene

Unigene Clusters for HEATR1 Gene

HEAT repeat containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HEATR1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b ^ 20a ·
SP1:
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 20b ^ 21a · 21b ^ 22a · 22b · 22c ^ 23a · 23b · 23c ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39a ·
SP1: - - - -
SP2:
SP3:
SP4: -
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 39b ^ 40 ^ 41a · 41b ^ 42 ^ 43 ^ 44 ^ 45
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for HEATR1 Gene

GeneLoc Exon Structure for
HEATR1
ECgene alternative splicing isoforms for
HEATR1

Expression for HEATR1 Gene

mRNA expression in normal human tissues for HEATR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HEATR1 Gene

SOURCE GeneReport for Unigene cluster for HEATR1 Gene Hs.708114

genes like me logo Genes that share expressions with HEATR1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HEATR1 Gene

Orthologs for HEATR1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HEATR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HEATR1 35
  • 99.61 (n)
  • 99.53 (a)
HEATR1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HEATR1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HEATR1 35
  • 89.13 (n)
  • 89.86 (a)
HEATR1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Heatr1 35
  • 83.17 (n)
  • 83.85 (a)
Heatr1 16
Heatr1 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HEATR1 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 67 (a)
OneToMany
-- 36
  • 62 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Heatr1 35
  • 83.51 (n)
  • 84.97 (a)
chicken
(Gallus gallus)
Aves HEATR1 35
  • 69.17 (n)
  • 65.97 (a)
HEATR1 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HEATR1 36
  • 52 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3516 35
zebrafish
(Danio rerio)
Actinopterygii heatr1 36
  • 54 (a)
OneToMany
heatr1 36
  • 54 (a)
OneToMany
LOC100151449 35
  • 58.58 (n)
  • 55.27 (a)
wufi69e12 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009004 35
  • 44.36 (n)
  • 34.52 (a)
fruit fly
(Drosophila melanogaster)
Insecta l(2)k09022 35
  • 45.96 (n)
  • 34.47 (a)
l(2)k09022 36
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea toe-1 35
  • 41.57 (n)
  • 27.59 (a)
toe-1 36
  • 22 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UTP10 36
  • 23 (a)
OneToOne
UTP10 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G06530 35
  • 41.78 (n)
  • 27.37 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2925 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
OneToOne
Species with no ortholog for HEATR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for HEATR1 Gene

ENSEMBL:
Gene Tree for HEATR1 (if available)
TreeFam:
Gene Tree for HEATR1 (if available)

Paralogs for HEATR1 Gene

No data available for Paralogs for HEATR1 Gene

Variants for HEATR1 Gene

Sequence variations from dbSNP and Humsavar for HEATR1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs477226 -- 236,599,731(+) TAGAA(C/T)GAGTA intron-variant
rs509767 -- 236,570,173(+) agtcc(C/T)agcta intron-variant
rs518292 -- 236,582,076(+) GTCAT(A/T)ACCCA intron-variant
rs605565 -- 236,601,681(+) acaaa(A/C)aaaaa intron-variant
rs653737 - 236,566,656(+) CGCCA(C/T)AGGCA reference, missense, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for HEATR1 Gene

Variant ID Type Subtype PubMed ID
nsv516855 CNV Gain 19592680
dgv60n27 CNV Gain 19166990
esv995705 CNV Gain 20482838
esv2002103 CNV Deletion 18987734
esv2725451 CNV Deletion 23290073
dgv552n71 CNV Loss 21882294

Relevant External Links for HEATR1 Gene

HapMap Linkage Disequilibrium report
HEATR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEATR1 Gene

Disorders for HEATR1 Gene

Relevant External Links for HEATR1

Genetic Association Database (GAD)
HEATR1
Human Genome Epidemiology (HuGE) Navigator
HEATR1
genes like me logo Genes that share disorders with HEATR1: view

No data available for UniProtKB/Swiss-Prot for HEATR1 Gene

Publications for HEATR1 Gene

  1. Recruitment of factors linking transcription and processing of pre-rRNA to NOR chromatin is UBF-dependent and occurs independent of transcription in human cells. (PMID: 17699751) Prieto J.L. … McStay B. (Genes Dev. 2007) 2 3
  2. Functional proteomic analysis of human nucleolus. (PMID: 12429849) Scherl A. … Diaz J.-J. (Mol. Biol. Cell 2002) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  5. Large-scale mapping of human protein-protein interactions by mass spectrometry. (PMID: 17353931) Ewing R.M. … Figeys D. (Mol. Syst. Biol. 2007) 3

Products for HEATR1 Gene

Sources for HEATR1 Gene

Back to Top

Content