Aliases for HEATR1 Gene

Aliases for HEATR1 Gene

  • HEAT Repeat Containing 1 2 3 5
  • BAP28 2 3 4
  • UTP10 2 3 4
  • U3 Small Nucleolar RNA-Associated Protein 10 Homolog 3 4
  • HEAT Repeat-Containing Protein 1 3 4
  • Protein BAP28 3 4
  • UTP10, Small Subunit (SSU) Processome Component, Homolog (Yeast) 2
  • UTP10, Small Subunit (SSU) Processome Component, Homolog 3
  • EC 4.1.1.31 51
  • EC 6.3.4.4 51
  • FLJ10359 2
  • HEATR1 5

External Ids for HEATR1 Gene

Previous GeneCards Identifiers for HEATR1 Gene

  • GC01M233039
  • GC01M234778
  • GC01M236712
  • GC01M207169
  • GC01M236537

Summaries for HEATR1 Gene

GeneCards Summary for HEATR1 Gene

HEATR1 (HEAT Repeat Containing 1) is a Protein Coding gene. Diseases associated with HEATR1 include Autosomal Dominant Non-Syndromic Intellectual Disability 1 and Diamond-Blackfan Anemia. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. Gene Ontology (GO) annotations related to this gene include snoRNA binding.

UniProtKB/Swiss-Prot Summary for HEATR1 Gene

  • Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I.

Gene Wiki entry for HEATR1 Gene

Additional gene information for HEATR1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HEATR1 Gene

Genomics for HEATR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HEATR1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HEATR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HEATR1

Top Transcription factor binding sites by QIAGEN in the HEATR1 gene promoter:
  • ATF-2
  • c-Jun
  • E47
  • Evi-1
  • GATA-3
  • Nkx3-1
  • Nkx6-1
  • STAT5A
  • Tal-1beta

Genomic Locations for HEATR1 Gene

Genomic Locations for HEATR1 Gene
chr1:236,549,005-236,604,516
(GRCh38/hg38)
Size:
55,512 bases
Orientation:
Minus strand
chr1:236,712,305-236,767,841
(GRCh37/hg19)
Size:
55,537 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:
    • May be a component of the proposed t-UTP subcomplex of the ribosomal small subunit (SSU) processome containing at least UTP4, WDR43, HEATR1, UTP15, WDR75.
    SequenceCaution:
    • Sequence=BAA91564.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for HEATR1 Gene

Selected DME Specific Peptides for HEATR1 Gene

Q9H583:
  • ALQKVVE
  • FLAELME

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 & Families for HEATR1 Gene

Protein Domains for HEATR1 Gene

InterPro:
Blocks:
  • HEAT repeat
  • BP28, C-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for HEATR1 Gene

GenScript: Design optimal peptide antigens:
  • HEATR1 protein (A2VDI1_HUMAN)
  • HEAT repeat containing 1 (B2RWN5_HUMAN)
  • Protein BAP28 (HEAT1_HUMAN)
  • HEATR1 protein (Q96ES5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H583

UniProtKB/Swiss-Prot:

HEAT1_HUMAN :
  • Belongs to the HEATR1/UTP10 family.
Family:
  • Belongs to the HEATR1/UTP10 family.
genes like me logo Genes that share domains with HEATR1: view

Function for HEATR1 Gene

Molecular function for HEATR1 Gene

UniProtKB/Swiss-Prot Function:
Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I.

Enzyme Numbers (IUBMB) for HEATR1 Gene

Phenotypes From GWAS Catalog for HEATR1 Gene

Gene Ontology (GO) - Molecular Function for HEATR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 22190034
GO:0030515 snoRNA binding IBA 21873635
genes like me logo Genes that share ontologies with HEATR1: view
genes like me logo Genes that share phenotypes with HEATR1: view

Animal Model Products

CRISPR Products

miRNA for HEATR1 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HEATR1

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HEATR1 gene
Compartment Confidence
nucleus 5
mitochondrion 4
plasma membrane 3
extracellular 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
  • Nucleoli fibrillar center (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HEATR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA,IDA 17699751
GO:0005739 mitochondrion IDA --
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

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 21873635
GO:0006364 rRNA processing TAS --
GO:0042254 ribosome biogenesis IEA --
GO:0045943 positive regulation of transcription by RNA polymerase I IBA,IMP 17699751
GO:2000234 positive regulation of rRNA processing IMP 17699751
genes like me logo Genes that share ontologies with HEATR1: view

No data available for SIGNOR curated interactions for HEATR1 Gene

Drugs & Compounds for HEATR1 Gene

No Compound Related Data Available

Transcripts for HEATR1 Gene

mRNA/cDNA for HEATR1 Gene

1 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HEATR1

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

Expression for HEATR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for HEATR1 Gene



Protein tissue co-expression partners for HEATR1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HEATR1

SOURCE GeneReport for Unigene cluster for HEATR1 Gene:

Hs.708114

Evidence on tissue expression from TISSUES for HEATR1 Gene

  • Nervous system(2.9)
  • Blood(2.6)
genes like me logo Genes that share expression patterns with HEATR1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 99.61 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HEATR1 30 31
  • 89.13 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HEATR1 31
  • 88 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Heatr1 30
  • 83.51 (n)
Mouse
(Mus musculus)
Mammalia Heatr1 30 17 31
  • 83.17 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HEATR1 31
  • 79 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 67 (a)
OneToMany
-- 31
  • 62 (a)
OneToMany
Chicken
(Gallus gallus)
Aves HEATR1 30 31
  • 69.17 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HEATR1 31
  • 52 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.3516 30
Zebrafish
(Danio rerio)
Actinopterygii LOC100151449 30
  • 58.58 (n)
heatr1 31 31
  • 54 (a)
OneToMany
wufi69e12 30
Fruit Fly
(Drosophila melanogaster)
Insecta l(2)k09022 30 31
  • 45.96 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009004 30
  • 44.36 (n)
Worm
(Caenorhabditis elegans)
Secernentea toe-1 30 31
  • 41.57 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UTP10 31 33
  • 23 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G06530 30
  • 41.78 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 30 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2925 30
Species where no ortholog for HEATR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for HEATR1: view image

Paralogs for HEATR1 Gene

No data available for Paralogs for HEATR1 Gene

Variants for HEATR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HEATR1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
715472 Benign: not provided 236,585,828(-) A/C MISSENSE_VARIANT
730284 Benign: not provided 236,592,040(-) G/T MISSENSE_VARIANT
731294 Benign: not provided 236,585,086(-) A/G MISSENSE_VARIANT
731790 Benign: not provided 236,585,103(-) G/C SYNONYMOUS_VARIANT
734529 Benign: not provided 236,595,551(-) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for HEATR1 Gene

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

Variant ID Type Subtype PubMed ID
dgv591n100 CNV gain 25217958
dgv60n27 CNV gain 19166990
esv2002103 CNV deletion 18987734
esv2725451 CNV deletion 23290073
esv2762227 CNV gain 21179565
esv2763410 CNV gain 21179565
esv3589222 CNV gain 21293372
esv995705 CNV gain 20482838
nsv1005877 CNV gain 25217958
nsv1012436 CNV loss 25217958
nsv516855 CNV gain 19592680
nsv549394 CNV gain 21841781
nsv549403 CNV gain 21841781
nsv998009 CNV gain 25217958

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)

Additional Variant Information for HEATR1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HEATR1

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

Disorders for HEATR1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for HEATR1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
autosomal dominant non-syndromic intellectual disability 1
  • mrd1
diamond-blackfan anemia
  • diamond-blackfan anemia 1
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HEATR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with HEATR1: view

No data available for 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 JL … McStay B (Genes & development 2007) 2 3 4
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Functional proteomic analysis of human nucleolus. (PMID: 12429849) Scherl A … Diaz JJ (Molecular biology of the cell 2002) 3 4
  5. LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling. (PMID: 31073040) Choi JH … Beutler B (Science (New York, N.Y.) 2019) 3

Products for HEATR1 Gene

Sources for HEATR1 Gene