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Aliases for HEATR1 Gene

Aliases for HEATR1 Gene

  • HEAT Repeat Containing 1 2 3 5
  • Protein BAP28 3 4
  • UTP10 2 3
  • BAP28 3 4
  • UTP10, Small Subunit (SSU) Processome Component, Homolog 3
  • Small Subunit (SSU) Processome Component 2
  • 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 Gene Expression and Ribosome biogenesis in eukaryotes. GO annotations related to this gene include poly(A) RNA binding and snoRNA binding.

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

Promoters for HEATR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HEATR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HEATR1 Gene

Chromosome:
1
Start:
236,536,173 bp from pter
End:
236,604,541 bp from pter
Size:
68,369 bases
Orientation:
Minus strand

Genomic View for HEATR1 Gene

Genes around HEATR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HEATR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 1483, Lys 1575, and Lys 1643
  • Modification sites at PhosphoSitePlus

Other Protein References for HEATR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for HEATR1 Gene

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

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

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

Animal Model Products

miRNA for HEATR1 Gene

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
mitochondrion 5
nucleus 5
plasma membrane 3
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HEATR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IDA --
GO:0030686 90S preribosome IBA --
genes like me logo Genes that share ontologies with HEATR1: view

Pathways & Interactions for HEATR1 Gene

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

Pathways by source for HEATR1 Gene

Gene Ontology (GO) - Biological Process for HEATR1 Gene

None

No data available for SIGNOR curated interactions for HEATR1 Gene

Drugs & Compounds for HEATR1 Gene

No Compound Related Data Available

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

Protein differential expression in normal tissues from HIPED for HEATR1 Gene

This gene is overexpressed in Oral epithelium (16.2) and CD8 Tcells (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with HEATR1: view

Protein tissue co-expression partners for HEATR1 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia HEATR1 35
  • 99.61 (n)
  • 99.53 (a)
HEATR1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Heatr1 35
  • 83.51 (n)
  • 84.97 (a)
cow
(Bos Taurus)
Mammalia HEATR1 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HEATR1 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 67 (a)
OneToMany
-- 36
  • 62 (a)
OneToMany
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 LOC100151449 35
  • 58.58 (n)
  • 55.27 (a)
wufi69e12 35
heatr1 36
  • 54 (a)
OneToMany
heatr1 36
  • 54 (a)
OneToMany
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
rs2275689 - 236,558,360(+) CAGTG(C/T)TCAGC reference, missense
rs1885533 - 236,555,893(+) TCATC(A/C/G/T)CCCCA reference, missense
rs1126627 - 236,555,320(+) CTGGT(C/T)CAAGG reference, missense
rs2275687 - 236,554,626(+) AGGCT(C/T)CTGCT reference, missense
rs2794751 - 236,595,587(-) TCTGC(A/G)TTACA reference, missense

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

Variation tolerance for HEATR1 Gene

Residual Variation Intolerance Score: 98.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 30.13; 99.90% of all genes are more intolerant (likely to be disease-causing)

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HEATR1

No disorders were found for HEATR1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 67
  2. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  5. The central role of EED in the orchestration of polycomb group complexes. (PMID: 24457600) Cao Q. … Chinnaiyan A.M. (Nat Commun 2014) 3

Products for HEATR1 Gene

Sources for HEATR1 Gene

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