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

Aliases for R3HCC1L Gene

Aliases for R3HCC1L Gene

  • R3H Domain And Coiled-Coil Containing 1 Like 2 3 5
  • Growth Inhibition And Differentiation-Related Protein 88 3 4
  • R3H And Coiled-Coil Domain-Containing Protein 1-Like 3 4
  • Putative Mitochondrial Space Protein 32.1 3 4
  • C10orf28 3 4
  • GIDRP88 3 4
  • Growth Inhibition And Differentiation Related Protein 86 3
  • Coiled-Coil Domain-Containing Protein R3HCC1L 3
  • R3H Domain And Coiled-Coil Containing 1-Like 2
  • Chromosome 10 Open Reading Frame 28 2
  • GIDRP86 3
  • PSORT 3

External Ids for R3HCC1L Gene

Previous HGNC Symbols for R3HCC1L Gene

  • C10orf28

Previous GeneCards Identifiers for R3HCC1L Gene

  • GC10P099894

Summaries for R3HCC1L Gene

GeneCards Summary for R3HCC1L Gene

R3HCC1L (R3H Domain And Coiled-Coil Containing 1 Like) is a Protein Coding gene. Diseases associated with R3HCC1L include Cutaneous Anthrax. GO annotations related to this gene include nucleotide binding. An important paralog of this gene is R3HCC1.

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 R3HCC1L Gene

Genomics for R3HCC1L Gene

Regulatory Elements for R3HCC1L Gene

Enhancers for R3HCC1L 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
GH10G098132 1.1 ENCODE 27.5 -0.2 -162 3.2 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 LOXL4 R3HCC1L EXOSC1 MARVELD1 ENSG00000278752
GH10G097861 1.6 Ensembl ENCODE dbSUPER 13.3 -272.8 -272848 1.2 FOXA2 PKNOX1 CREB3L1 ARNT MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 R3HCC1L SFRP5 ZFYVE27 GOLGA7B PIR47260
GH10G097331 1.4 ENCODE dbSUPER 14.5 -801.0 -800975 4.9 HDGF HNRNPUL1 FOXA2 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 EXOSC1 SLIT1 R3HCC1L ARHGAP19 NPM1P26 LCOR RPL13AP5 ENSG00000230928 LOC105378448 FRAT1
GH10G097661 1.4 ENCODE dbSUPER 13.3 -468.4 -468422 9.6 FOXA2 PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF207 MORN4 R3HCC1L AVPI1 LOXL4 ENSG00000230928 ZFYVE27 HOGA1 PIR48481 PI4K2A
GH10G098445 1.1 ENCODE 14.5 +311.6 311568 2.8 MLX SIN3A ZNF2 ZNF143 ZNF207 FOS SP3 MXD4 REST ZNF592 R3HCC1L ENSG00000230928 HPS1 PYROXD2 LOC101927278 MIR4685
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around R3HCC1L on UCSC Golden Path with GeneCards custom track

Promoters for R3HCC1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000032266 376 1601 HDGF CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766

Genomic Location for R3HCC1L Gene

Chromosome:
10
Start:
98,134,624 bp from pter
End:
98,244,897 bp from pter
Size:
110,274 bases
Orientation:
Plus strand

Genomic View for R3HCC1L Gene

Genes around R3HCC1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
R3HCC1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for R3HCC1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for R3HCC1L Gene

Proteins for R3HCC1L Gene

  • Protein details for R3HCC1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z5L2-R3HCL_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein R3HCC1L
    Protein Accession:
    Q7Z5L2
    Secondary Accessions:
    • O60598
    • Q5W0B4
    • Q5W0B5
    • Q86VT9
    • Q8N9H0

    Protein attributes for R3HCC1L Gene

    Size:
    792 amino acids
    Molecular mass:
    87884 Da
    Quaternary structure:
    • May interact with the exon junction complex (EJC) composed at least of CASC3, EIF4A3, MAGOH and RBM8A.
    SequenceCaution:
    • Sequence=AAC05748.1; Type=Frameshift; Positions=304; Evidence={ECO:0000305}; Sequence=BAC04364.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for R3HCC1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for R3HCC1L Gene

Post-translational modifications for R3HCC1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for R3HCC1L Gene

Domains & Families for R3HCC1L Gene

Protein Domains for R3HCC1L Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with R3HCC1L: view

No data available for Gene Families and UniProtKB/Swiss-Prot for R3HCC1L Gene

Function for R3HCC1L Gene

Gene Ontology (GO) - Molecular Function for R3HCC1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with R3HCC1L: view

Phenotypes for R3HCC1L Gene

genes like me logo Genes that share phenotypes with R3HCC1L: view

Animal Models for R3HCC1L Gene

MGI Knock Outs for R3HCC1L:

Animal Model Products

miRNA for R3HCC1L Gene

miRTarBase miRNAs that target R3HCC1L

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for R3HCC1L Gene

Localization for R3HCC1L 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 R3HCC1L gene
Compartment Confidence
nucleus 4
mitochondrion 2
extracellular 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for R3HCC1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035145 colocalizes_with exon-exon junction complex IDA 20930030
genes like me logo Genes that share ontologies with R3HCC1L: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for R3HCC1L Gene

Pathways & Interactions for R3HCC1L Gene

SuperPathways for R3HCC1L Gene

No Data Available

Gene Ontology (GO) - Biological Process for R3HCC1L Gene

None

No data available for Pathways by source and SIGNOR curated interactions for R3HCC1L Gene

Drugs & Compounds for R3HCC1L Gene

No Compound Related Data Available

Transcripts for R3HCC1L Gene

Unigene Clusters for R3HCC1L Gene

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

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for R3HCC1L Gene

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

Relevant External Links for R3HCC1L Gene

GeneLoc Exon Structure for
R3HCC1L
ECgene alternative splicing isoforms for
R3HCC1L

Expression for R3HCC1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for R3HCC1L Gene

Protein differential expression in normal tissues from HIPED for R3HCC1L Gene

This gene is overexpressed in Testis (28.9), CD8 Tcells (16.5), Blymphocyte (13.4), and Pancreas (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for R3HCC1L Gene



Protein tissue co-expression partners for R3HCC1L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of R3HCC1L Gene:

R3HCC1L

SOURCE GeneReport for Unigene cluster for R3HCC1L Gene:

Hs.419800

mRNA Expression by UniProt/SwissProt for R3HCC1L Gene:

Q7Z5L2-R3HCL_HUMAN
Tissue specificity: Expressed in placenta.
genes like me logo Genes that share expression patterns with R3HCC1L: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for R3HCC1L Gene

Orthologs for R3HCC1L Gene

This gene was present in the common ancestor of animals.

Orthologs for R3HCC1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia R3HCC1L 34 35
  • 99.27 (n)
dog
(Canis familiaris)
Mammalia R3HCC1L 34 35
  • 85.19 (n)
cow
(Bos Taurus)
Mammalia R3HCC1L 34 35
  • 83.7 (n)
mouse
(Mus musculus)
Mammalia R3hcc1l 34 16 35
  • 78.65 (n)
rat
(Rattus norvegicus)
Mammalia R3hcc1l 34
  • 69.94 (n)
oppossum
(Monodelphis domestica)
Mammalia R3HCC1L 35
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia R3HCC1L 35
  • 41 (a)
OneToOne
chicken
(Gallus gallus)
Aves R3HCC1L 35
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia R3HCC1L 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.19631 34
zebrafish
(Danio rerio)
Actinopterygii r3hcc1l 35
  • 43 (a)
OneToOne
wufc76b11 34
fruit fly
(Drosophila melanogaster)
Insecta CG2162 35
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 19 (a)
OneToMany
Species where no ortholog for R3HCC1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for R3HCC1L Gene

ENSEMBL:
Gene Tree for R3HCC1L (if available)
TreeFam:
Gene Tree for R3HCC1L (if available)

Paralogs for R3HCC1L Gene

Paralogs for R3HCC1L Gene

(2) SIMAP similar genes for R3HCC1L Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for R3HCC1L Gene

genes like me logo Genes that share paralogs with R3HCC1L: view

Variants for R3HCC1L Gene

Sequence variations from dbSNP and Humsavar for R3HCC1L Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000001213 -- 98,193,440(+) ACAAA(A/G)TCAAC intron-variant
rs1000003852 -- 98,173,885(+) CAATA(A/G)GAAGA intron-variant
rs1000076583 -- 98,145,191(+) ACTTT(A/G)TATGT intron-variant
rs1000092823 -- 98,207,182(+) TTTCT(C/G)TGTTG intron-variant
rs1000104993 -- 98,174,551(+) GGAGT(A/G)TATAA intron-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for R3HCC1L Gene

Variant ID Type Subtype PubMed ID
esv3303473 CNV mobile element insertion 20981092
esv3392688 CNV insertion 20981092
nsv552027 CNV loss 21841781
nsv831954 CNV loss 17160897

Variation tolerance for R3HCC1L Gene

Residual Variation Intolerance Score: 98.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.26; 76.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for R3HCC1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
R3HCC1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for R3HCC1L Gene

Disorders for R3HCC1L Gene

MalaCards: The human disease database

(1) MalaCards diseases for R3HCC1L Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cutaneous anthrax
  • anthrax, skin type
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for R3HCC1L

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
R3HCC1L
genes like me logo Genes that share disorders with R3HCC1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for R3HCC1L Gene

Publications for R3HCC1L Gene

  1. SMG6 interacts with the exon junction complex via two conserved EJC-binding motifs (EBMs) required for nonsense-mediated mRNA decay. (PMID: 20930030) Kashima I. … Izaurralde E. (Genes Dev. 2010) 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 3 4 64
  4. 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
  5. The development of a genetic profile of placental gene expression during the first trimester of pregnancy: a potential tool for identifying novel secreted markers. (PMID: 10867487) Page N.M. … Lowry P.J. (Fetal Diagn. Ther. 2000) 3 4 64

Products for R3HCC1L Gene

Sources for R3HCC1L Gene

Content
Loading form....