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Aliases for HEATR3 Gene

Aliases for HEATR3 Gene

  • HEAT Repeat Containing 3 2 3 5
  • HEAT Repeat-Containing Protein 3 3
  • Symportin 1 3
  • SYO1 3

External Ids for HEATR3 Gene

Previous GeneCards Identifiers for HEATR3 Gene

  • GC16P048658
  • GC16P050100
  • GC16P035988

Summaries for HEATR3 Gene

Entrez Gene Summary for HEATR3 Gene

  • The protein encoded by this gene plays a role in ribosomal protein transport and in the assembly of the 5S ribonucleoprotein particle (5S RNP). The encoded protein also may be involved in NOD2-mediated NF-kappaB signaling. [provided by RefSeq, Jul 2016]

GeneCards Summary for HEATR3 Gene

HEATR3 (HEAT Repeat Containing 3) is a Protein Coding gene. Diseases associated with HEATR3 include Synovium Cancer and Biphasic Synovial Sarcoma. Gene Ontology (GO) annotations related to this gene include binding.

Additional gene information for HEATR3 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEATR3 Gene

Genomics for HEATR3 Gene

GeneHancer (GH) Regulatory Elements for HEATR3 Gene

Promoters and enhancers for HEATR3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I050065 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 606.2 +1.0 968 3.2 HDGF ATF1 MLX ARID4B SIN3A DMAP1 ZNF48 GTF3C2 ZNF121 POLR2B HEATR3 ENSG00000259843 ENSG00000279356 GC16P050053
GH16I050093 Enhancer 1.1 FANTOM5 Ensembl ENCODE 55.8 +28.0 27952 1.5 RXRA JUNB MAX BATF NR2F2 YY1 GABPA POLR2A HEATR3 CNEP1R1 ADCY7 GC16P050098 ENSG00000279356
GH16I050151 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 22.9 +88.1 88143 4.6 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 LOC101927250 PAPD5 HEATR3 SNX20 CNEP1R1 BRD7 GC16M050159
GH16I050034 Enhancer 0.9 ENCODE 49.9 -30.2 -30221 1.9 ELF3 FOXA2 ARID4B DMAP1 RARA ETS1 SMARCC2 ATF7 FOS CREM GC16P050035 PIR40425 HEATR3 CNEP1R1 LOC100130602
GH16I050024 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 21 -40.4 -40423 2.1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 E2F8 CNEP1R1 HEATR3 BRD7 GC16P050020 GC16P050035 PIR40425
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HEATR3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HEATR3 gene promoter:

Genomic Locations for HEATR3 Gene

Genomic Locations for HEATR3 Gene
chr16:50,065,941-50,106,387
(GRCh38/hg38)
Size:
40,447 bases
Orientation:
Plus strand
chr16:50,099,852-50,140,298
(GRCh37/hg19)

Genomic View for HEATR3 Gene

Genes around HEATR3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HEATR3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HEATR3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEATR3 Gene

Proteins for HEATR3 Gene

  • Protein details for HEATR3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z4Q2-HEAT3_HUMAN
    Recommended name:
    HEAT repeat-containing protein 3
    Protein Accession:
    Q7Z4Q2
    Secondary Accessions:
    • A8K1N4
    • Q8N525
    • Q8WV56
    • Q96CC9
    • Q9NWN7

    Protein attributes for HEATR3 Gene

    Size:
    680 amino acids
    Molecular mass:
    74583 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH14415.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for HEATR3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HEATR3 Gene

Post-translational modifications for HEATR3 Gene

Other Protein References for HEATR3 Gene

No data available for DME Specific Peptides for HEATR3 Gene

Domains & Families for HEATR3 Gene

Gene Families for HEATR3 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for HEATR3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HEATR3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HEATR3: view

No data available for UniProtKB/Swiss-Prot for HEATR3 Gene

Function for HEATR3 Gene

Phenotypes From GWAS Catalog for HEATR3 Gene

Gene Ontology (GO) - Molecular Function for HEATR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051082 unfolded protein binding IBA --
genes like me logo Genes that share ontologies with HEATR3: view

Phenotypes for HEATR3 Gene

MGI mutant phenotypes for HEATR3:
inferred from 1 alleles
GenomeRNAi human phenotypes for HEATR3:
genes like me logo Genes that share phenotypes with HEATR3: view

Animal Models for HEATR3 Gene

MGI Knock Outs for HEATR3:

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HEATR3 Gene

Localization for HEATR3 Gene

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 HEATR3 gene
Compartment Confidence
nucleus 3
cytosol 3
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for HEATR3 Gene

Pathways & Interactions for HEATR3 Gene

SuperPathways for HEATR3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HEATR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006606 protein import into nucleus IBA --
GO:0042273 ribosomal large subunit biogenesis IBA --
genes like me logo Genes that share ontologies with HEATR3: view

No data available for Pathways by source and SIGNOR curated interactions for HEATR3 Gene

Drugs & Compounds for HEATR3 Gene

No Compound Related Data Available

Transcripts for HEATR3 Gene

Unigene Clusters for HEATR3 Gene

HEAT repeat containing 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HEATR3 Gene

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

Relevant External Links for HEATR3 Gene

GeneLoc Exon Structure for
HEATR3
ECgene alternative splicing isoforms for
HEATR3

Expression for HEATR3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HEATR3 Gene

Protein differential expression in normal tissues from HIPED for HEATR3 Gene

This gene is overexpressed in Bone (39.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HEATR3 Gene



Protein tissue co-expression partners for HEATR3 Gene

NURSA nuclear receptor signaling pathways regulating expression of HEATR3 Gene:

HEATR3

SOURCE GeneReport for Unigene cluster for HEATR3 Gene:

Hs.733027

Evidence on tissue expression from TISSUES for HEATR3 Gene

  • Liver(4.2)
  • Nervous system(4.2)
  • Pancreas(4.1)
  • Skin(4.1)
genes like me logo Genes that share expression patterns with HEATR3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HEATR3 Gene

Orthologs for HEATR3 Gene

This gene was present in the common ancestor of animals.

Orthologs for HEATR3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HEATR3 33 34
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia HEATR3 33 34
  • 90.39 (n)
cow
(Bos Taurus)
Mammalia HEATR3 33 34
  • 89.35 (n)
rat
(Rattus norvegicus)
Mammalia Heatr3 33
  • 84.36 (n)
mouse
(Mus musculus)
Mammalia Heatr3 33 16 34
  • 84.29 (n)
oppossum
(Monodelphis domestica)
Mammalia HEATR3 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEATR3 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves HEATR3 33 34
  • 72.17 (n)
lizard
(Anolis carolinensis)
Reptilia HEATR3 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia heatr3 33
  • 63.48 (n)
Str.15308 33
zebrafish
(Danio rerio)
Actinopterygii heatr3 33 34
  • 57.65 (n)
zgc77793 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4214 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010051 33
  • 43.7 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10286 33 34
  • 40.49 (n)
Species where no ortholog for HEATR3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HEATR3 Gene

ENSEMBL:
Gene Tree for HEATR3 (if available)
TreeFam:
Gene Tree for HEATR3 (if available)

Paralogs for HEATR3 Gene

No data available for Paralogs for HEATR3 Gene

Variants for HEATR3 Gene

Sequence variations from dbSNP and Humsavar for HEATR3 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000042890 -- 50,087,322(+) A/G intron_variant
rs1000057225 -- 50,081,234(+) G/A intron_variant
rs1000068512 -- 50,078,002(+) A/G intron_variant
rs1000161945 -- 50,069,600(+) C/G intron_variant
rs1000167814 -- 50,102,841(+) C/A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HEATR3 Gene

Variant ID Type Subtype PubMed ID
esv3445882 CNV insertion 20981092
esv3892857 CNV gain 25118596
nsv1066081 CNV gain 25217958
nsv572591 CNV gain 21841781

Variation tolerance for HEATR3 Gene

Residual Variation Intolerance Score: 52.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.95; 59.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HEATR3 Gene

Human Gene Mutation Database (HGMD)
HEATR3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HEATR3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEATR3 Gene

Disorders for HEATR3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for HEATR3 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
synovium cancer
  • malignant tumor of synovium
biphasic synovial sarcoma
  • biphasic sarcoma of synovium
sarcoma, synovial
  • synovial sarcoma
connective tissue cancer
  • connective tissue neoplasm
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HEATR3

genes like me logo Genes that share disorders with HEATR3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HEATR3 Gene

Publications for HEATR3 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. (PMID: 27432908) Li X … Wang W (Molecular & cellular proteomics : MCP 2016) 3 58

Products for HEATR3 Gene

Sources for HEATR3 Gene

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