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

Aliases for R3HCC1 Gene

Aliases for R3HCC1 Gene

  • R3H Domain And Coiled-Coil Containing 1 2 3 5

External Ids for R3HCC1 Gene

Previous GeneCards Identifiers for R3HCC1 Gene

  • GC08P023202
  • GC08P021691
  • GC08P023127

Summaries for R3HCC1 Gene

GeneCards Summary for R3HCC1 Gene

R3HCC1 (R3H Domain And Coiled-Coil Containing 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is R3HCC1L.

Additional gene information for R3HCC1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for R3HCC1 Gene

Genomics for R3HCC1 Gene

GeneHancer (GH) Regulatory Elements for R3HCC1 Gene

Promoters and enhancers for R3HCC1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08I023287 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 562.5 +18.2 18219 1.7 PKNOX1 ARNT ARID4B SIN3A DMAP1 IRF4 SLC30A9 POLR2B CBX5 ZNF213 R3HCC1 CHMP7 ENSG00000253200 CCAR2 C8orf58 LOXL2 LOC107986927 SORBS3 ENTPD4 BIN3
GH08I023159 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.3 -107.7 -107731 5.1 HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 TNFRSF10D ENSG00000253200 ENTPD4 C8orf58 POLR3D CCAR2 BIN3 CHMP7 LOC389641 TNFRSF10A
GH08I023295 Enhancer 1.1 Ensembl ENCODE dbSUPER 24.5 +27.7 27725 4.2 CTCF JUN MAX RAD21 RFX5 POLR2A ARID2 ZNF143 SMC3 FOS R3HCC1 CHMP7 LOXL2 LOC100507156 GC08P023294
GH08I023301 Enhancer 1.2 Ensembl ENCODE dbSUPER 20.7 +34.7 34733 5.7 TFAP4 FOXA2 SAP130 KLF17 MAX ZIC2 ZFHX2 ZNF316 POLR2A EGR1 R3HCC1 CHMP7 LOC100507156 TNFRSF10A LOC389641 LOXL2 GC08P023294
GH08I023402 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 11.5 +133.5 133540 2.7 ZNF76 SIN3A ZNF335 GLIS2 EGR1 RCOR1 EGR2 SP3 ZNF398 ZNF148 LOXL2 R3HCC1 ENTPD4 CHMP7 PIR45078
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around R3HCC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the R3HCC1 gene promoter:

Genomic Locations for R3HCC1 Gene

Genomic Locations for R3HCC1 Gene
26,160 bases
Plus strand

Genomic View for R3HCC1 Gene

Genes around R3HCC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
R3HCC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for R3HCC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for R3HCC1 Gene

Proteins for R3HCC1 Gene

  • Protein details for R3HCC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    R3H and coiled-coil domain-containing protein 1
    Protein Accession:
    Secondary Accessions:
    • B7ZLI1

    Protein attributes for R3HCC1 Gene

    440 amino acids
    Molecular mass:
    49092 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAI43823.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI43830.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB43396.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB43396.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Cloning artifact and potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=EAW63629.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW63630.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for R3HCC1 Gene


neXtProt entry for R3HCC1 Gene

Post-translational modifications for R3HCC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for R3HCC1 Gene

Domains & Families for R3HCC1 Gene

Gene Families for R3HCC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for R3HCC1 Gene

Suggested Antigen Peptide Sequences for R3HCC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with R3HCC1: view

No data available for UniProtKB/Swiss-Prot for R3HCC1 Gene

Function for R3HCC1 Gene

Gene Ontology (GO) - Molecular Function for R3HCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
genes like me logo Genes that share ontologies with R3HCC1: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for R3HCC1 Gene

Localization for R3HCC1 Gene

Subcellular locations from

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 R3HCC1 gene
Compartment Confidence
nucleus 5
cytosol 3

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for R3HCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035145 exon-exon junction complex IBA --
genes like me logo Genes that share ontologies with R3HCC1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for R3HCC1 Gene

Pathways & Interactions for R3HCC1 Gene

SuperPathways for R3HCC1 Gene

No Data Available

Interacting Proteins for R3HCC1 Gene

Gene Ontology (GO) - Biological Process for R3HCC1 Gene


No data available for Pathways by source and SIGNOR curated interactions for R3HCC1 Gene

Drugs & Compounds for R3HCC1 Gene

No Compound Related Data Available

Transcripts for R3HCC1 Gene

Unigene Clusters for R3HCC1 Gene

R3H domain and coiled-coil containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for R3HCC1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10
SP1: - - -
SP2: - -
SP3: - - -
SP4: -

Relevant External Links for R3HCC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for R3HCC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for R3HCC1 Gene

Protein differential expression in normal tissues from HIPED for R3HCC1 Gene

This gene is overexpressed in Retina (28.7), Fetal Brain (19.6), and Testis (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for R3HCC1 Gene

Protein tissue co-expression partners for R3HCC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of R3HCC1 Gene:


SOURCE GeneReport for Unigene cluster for R3HCC1 Gene:


Evidence on tissue expression from TISSUES for R3HCC1 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with R3HCC1: 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 R3HCC1 Gene

Orthologs for R3HCC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for R3HCC1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia R3HCC1 33 34
  • 98.55 (n)
(Canis familiaris)
Mammalia R3HCC1 33 34
  • 81.59 (n)
(Bos Taurus)
Mammalia R3HCC1 33 34
  • 80.13 (n)
(Mus musculus)
Mammalia R3hcc1 34
  • 48 (a)
(Monodelphis domestica)
Mammalia R3HCC1 34
  • 32 (a)
(Ornithorhynchus anatinus)
Mammalia R3HCC1 34
  • 31 (a)
(Gallus gallus)
Aves R3HCC1 34
  • 23 (a)
(Anolis carolinensis)
Reptilia R3HCC1 34
  • 21 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19348 33
(Danio rerio)
Actinopterygii r3hcc1 34
  • 15 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG2162 34
  • 11 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 18 (a)
Species where no ortholog for R3HCC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for R3HCC1 Gene

Gene Tree for R3HCC1 (if available)
Gene Tree for R3HCC1 (if available)

Paralogs for R3HCC1 Gene

Paralogs for R3HCC1 Gene

(2) SIMAP similar genes for R3HCC1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with R3HCC1: view

Variants for R3HCC1 Gene

Sequence variations from dbSNP and Humsavar for R3HCC1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000085910 -- 23,296,302(+) GGGG/GGGGG downstream_transcript_variant
rs1000172227 -- 23,292,027(+) G/T intron_variant
rs1000281192 -- 23,287,301(+) C/T upstream_transcript_variant
rs1000323422 -- 23,286,563(+) T/C upstream_transcript_variant
rs1000330262 -- 23,295,876(+) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for R3HCC1 Gene

Variant ID Type Subtype PubMed ID
dgv7139n100 CNV loss 25217958
nsv1017570 CNV gain 25217958

Variation tolerance for R3HCC1 Gene

Gene Damage Index Score: 6.59; 78.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for R3HCC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for R3HCC1 Gene

Disorders for R3HCC1 Gene

Additional Disease Information for R3HCC1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for R3HCC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for R3HCC1 Gene

Publications for R3HCC1 Gene

  1. Efficacy of metformin therapy in adolescent girls with androgen excess: relation to sex hormone-binding globulin and androgen receptor polymorphisms. (PMID: 20691435) Díaz M … Ibáñez L (Fertility and sterility 2010) 3 44 58
  2. 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
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 58
  4. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4 58
  5. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A … Hentze MW (Cell 2012) 3 58

Products for R3HCC1 Gene

Sources for R3HCC1 Gene

Loading form....