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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. GO annotations related to this gene include binding.

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

Regulatory Elements for HEATR3 Gene

Enhancers for HEATR3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G050065 1.3 FANTOM5 ENCODE 56.2 +1.0 969 3.2 HDGF ATF1 MLX ARID4B SIN3A DMAP1 ZNF48 ZNF121 GTF3C2 ZNF207 HEATR3 ENSG00000259843 ENSG00000279356
GH16G050093 1.2 FANTOM5 Ensembl ENCODE 55.8 +28.0 27952 1.5 JUNB MAX NR2F2 GABPA YY1 HEATR3 CNEP1R1 ADCY7 GC16P050098 ENSG00000279356
GH16G050034 0.9 ENCODE 49.9 -30.2 -30222 1.9 ELF3 FOXA2 ATF1 ARID4B DMAP1 RARA GATA4 FOS CREM MIXL1 HEATR3 GC16P050035 PIR40425 LOC100130602
GH16G050120 1 ENCODE 44.6 +55.5 55525 1.7 HDGF FOXA2 PKNOX1 ARID4B SIN3A FEZF1 YY1 SLC30A9 ZNF263 SP3 HEATR3 ENSG00000252526 PAPD5 BRD7 GC16P050122 GC16P050105
GH16G050037 1.5 FANTOM5 Ensembl ENCODE 26.7 -27.0 -27041 3.0 ATF1 PKNOX1 ARNT CREB3L1 TCF12 ZNF766 ELK1 NCOA1 JUNB CREB3 HEATR3 BRD7 CNEP1R1 ZNF423 GC16P050035 PIR40425 LOC100130602
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HEATR3 on UCSC Golden Path with GeneCards custom track

Promoters for HEATR3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000085723 359 1401 HDGF ATF1 MLX ZNF133 ARID4B SIN3A DMAP1 ZNF48 ZNF121 GTF3C2

Genomic Location for HEATR3 Gene

Chromosome:
16
Start:
50,065,941 bp from pter
End:
50,106,387 bp from pter
Size:
40,447 bases
Orientation:
Plus strand

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

  • Ubiquitination at isoforms=2631
  • Modification sites at PhosphoSitePlus

Other Protein References for HEATR3 Gene

No data available for DME Specific Peptides for HEATR3 Gene

Domains & Families for HEATR3 Gene

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 Gene Families and UniProtKB/Swiss-Prot for HEATR3 Gene

Function 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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Gene Ontology (GO) - Cellular Components for HEATR3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
genes like me logo Genes that share ontologies with HEATR3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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

Transcripts for HEATR3 Gene

Unigene Clusters for HEATR3 Gene

HEAT repeat containing 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Primer Products

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 34 35
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia HEATR3 34 35
  • 90.39 (n)
cow
(Bos Taurus)
Mammalia HEATR3 34 35
  • 89.35 (n)
rat
(Rattus norvegicus)
Mammalia Heatr3 34
  • 84.36 (n)
mouse
(Mus musculus)
Mammalia Heatr3 34 16 35
  • 84.29 (n)
oppossum
(Monodelphis domestica)
Mammalia HEATR3 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEATR3 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves HEATR3 34 35
  • 72.17 (n)
lizard
(Anolis carolinensis)
Reptilia HEATR3 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia heatr3 34
  • 63.48 (n)
Str.15308 34
zebrafish
(Danio rerio)
Actinopterygii heatr3 34 35
  • 57.65 (n)
zgc77793 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4214 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010051 34
  • 43.7 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10286 34 35
  • 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 Sequence Context AA Info Type
rs1000042890 -- 50,087,322(+) ATTTC(A/G)TATGC intron-variant
rs1000057225 -- 50,081,234(+) CAGGA(A/G)TTCAA intron-variant
rs1000068512 -- 50,078,002(+) CTCCC(A/G)AGTAG intron-variant, nc-transcript-variant
rs1000161945 -- 50,069,600(+) ATCCC(C/G)AAATG intron-variant
rs1000167814 -- 50,102,841(+) CACTG(A/C/T)GACCT 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)

Relevant External Links 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

(2) MalaCards diseases for HEATR3 Gene - From: DISEASES and GeneCards

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

Relevant External Links for HEATR3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Nat. Genet. 2004) 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  4. Symportin 1 chaperones 5S RNP assembly during ribosome biogenesis by occupying an essential rRNA-binding site. (PMID: 25849277) CalviA+o F.R. … Sinning I. (Nat Commun 2015) 3 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for HEATR3 Gene

Sources for HEATR3 Gene

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