Aliases for R3HCC1 Gene

Aliases for R3HCC1 Gene

  • R3H Domain And Coiled-Coil Containing 1 2 3 5
  • R3H And Coiled-Coil Domain-Containing Protein 1 3 4

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. Diseases associated with R3HCC1 include Testicular Leukemia. 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for R3HCC1 Gene

Genomics for R3HCC1 Gene

GeneHancer (GH) Regulatory Elements for R3HCC1 Gene

Promoters and enhancers for R3HCC1 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 R3HCC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for R3HCC1

Top Transcription factor binding sites by QIAGEN in the R3HCC1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • HOXA9
  • HOXA9B
  • Meis-1
  • Pax-6

Genomic Locations for R3HCC1 Gene

Genomic Locations for R3HCC1 Gene
chr8:23,270,120-23,296,279
(GRCh38/hg38)
Size:
26,160 bases
Orientation:
Plus strand
chr8:23,127,633-23,153,792
(GRCh37/hg19)
Size:
26,160 bases
Orientation:
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:
    Q9Y3T6-R3HC1_HUMAN
    Recommended name:
    R3H and coiled-coil domain-containing protein 1
    Protein Accession:
    Q9Y3T6
    Secondary Accessions:
    • B7ZLI1

    Protein attributes for R3HCC1 Gene

    Size:
    440 amino acids
    Molecular mass:
    49092 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI43823.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAI43830.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAB43396.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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

    UniProtKB/Swiss-Prot:

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

Blocks:
  • Single-stranded nucleic acid binding R3H
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for R3HCC1 Gene

GenScript: Design optimal peptide antigens:
  • R3H and coiled-coil domain-containing protein 1 (R3HC1_HUMAN)
genes like me logo Genes that share domains with R3HCC1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for R3HCC1 Gene

Function for R3HCC1 Gene

Phenotypes From GWAS Catalog 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

CRISPR Products

Clone Products

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

Localization for R3HCC1 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 R3HCC1 gene
Compartment Confidence
nucleus 3
cytosol 3
golgi apparatus 1

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 colocalizes_with exon-exon junction complex IBA 21873635
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

PathCards logo

SuperPathways for R3HCC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for R3HCC1 Gene

None

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

mRNA/cDNA for R3HCC1 Gene

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

CRISPR Products

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: -
SP5:
SP6:

Relevant External Links for R3HCC1 Gene

GeneLoc Exon Structure for
R3HCC1

Expression for R3HCC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for R3HCC1 Gene



Protein tissue co-expression partners for R3HCC1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for R3HCC1

SOURCE GeneReport for Unigene cluster for R3HCC1 Gene:

Hs.458644

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
chimpanzee
(Pan troglodytes)
Mammalia R3HCC1 31 30
  • 98.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia R3HCC1 31 30
  • 81.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia R3HCC1 31 30
  • 80.13 (n)
OneToOne
mouse
(Mus musculus)
Mammalia R3hcc1 31
  • 48 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia R3HCC1 31
  • 32 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia R3HCC1 31
  • 31 (a)
OneToOne
chicken
(Gallus gallus)
Aves R3HCC1 31
  • 23 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia R3HCC1 31
  • 21 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.19348 30
zebrafish
(Danio rerio)
Actinopterygii r3hcc1 31
  • 15 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG2162 31
  • 11 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 18 (a)
OneToMany
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

ENSEMBL:
Gene Tree for R3HCC1 (if available)
TreeFam:
Gene Tree for R3HCC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for R3HCC1: view image

Paralogs for R3HCC1 Gene

Paralogs for R3HCC1 Gene

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

  • R3HC1_HUMAN
  • E5RHX3_HUMAN
  • E5RIK1_HUMAN
  • E5RIQ4_HUMAN
  • H0YBU3_HUMAN
genes like me logo Genes that share paralogs with R3HCC1: view

Variants for R3HCC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for R3HCC1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs13530 - p.Leu363Arg
rs2272761 - p.Val307Met
rs3808536 - p.Arg145Lys
rs6980542 - p.Ala96Thr

Additional dbSNP identifiers (rs#s) for R3HCC1 Gene

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
R3HCC1

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

Disorders for R3HCC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for R3HCC1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
testicular leukemia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for R3HCC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with R3HCC1: view

No data available for 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 41 54
  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 54
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 54
  4. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4 54
  5. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A … Hentze MW (Cell 2012) 3 54

Products for R3HCC1 Gene

Sources for R3HCC1 Gene