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R3HCC1L Gene

protein-coding   GIFtS: 40
GCID: GC10P099894

R3H Domain And Coiled-Coil Containing 1-Like

(Previous name: chromosome 10 open reading frame 28)
(Previous symbol: C10orf28)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
R3H Domain And Coiled-Coil Containing 1-Like1 2     Chromosome 10 Open Reading Frame 281
C10orf281 2 3     GIDRP862
Growth Inhibition And Differentiation-Related Protein 882 3     PSORT2
Putative Mitochondrial Space Protein 32.12 3     Coiled-Coil Domain-Containing Protein R3HCC1L2
GIDRP882 3     Growth Inhibition And Differentiation Related Protein 862
R3H And Coiled-Coil Domain-Containing Protein 1-Like2 3     

External Ids:    HGNC: 235121   Entrez Gene: 272912   Ensembl: ENSG000001660247   UniProtKB: Q7Z5L23   

Export aliases for R3HCC1L gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for R3HCC1L Gene:
R3HCC1L (R3H domain and coiled-coil containing 1-like) is a protein-coding gene. GO annotations related to this gene include nucleotide binding. An important paralog of this gene is R3HCC1.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for R3HCC1L
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for R3HCC1L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat R3HCC1L


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q24.2   Ensembl cytogenetic band:  10q24.2   HGNC cytogenetic band: 10q24.2

R3HCC1L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
R3HCC1L gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P099894:  view genomic region     (about GC identifiers)

Start:
99,894,381 bp from pter      End:
100,004,654 bp from pter
Size:
110,274 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: R3HCL_HUMAN, Q7Z5L2 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein R3HCC1L  
Size: 792 amino acids; 87884 Da
Subunit: May interact with the exon junction complex (EJC) composed at least of CASC3, EIF4A3, MAGOH and RBM8A
Sequence caution: Sequence=AAC05748.1; Type=Frameshift; Positions=304; Sequence=BAC04364.1; Type=Erroneous
initiation; Note=Translation N-terminally extended;
Secondary accessions: O60598 Q5W0B4 Q5W0B5 Q86VT9 Q8N9H0
Alternative splicing: 3 isoforms:  Q7Z5L2-1   Q7Z5L2-2   Q7Z5L2-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for R3HCC1L: NX_Q7Z5L2

Explore proteomics data for R3HCC1L at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See R3HCC1L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001243548.1  NP_001243549.1  NP_001243550.1  NP_055287.4  NP_612478.2  

    ENSEMBL proteins: 
     ENSP00000298999   ENSP00000359618   ENSP00000359616   ENSP00000314018  

    R3HCC1L Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online peptides for R3HCC1L

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    antibodies-online antibodies for R3HCC1L (24 products) 

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    Search eBioscience for ELISAs for R3HCC1L 
    antibodies-online kits for R3HCC1L 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR012677 Nucleotide-bd_a/b_plait

    Graphical View of Domain Structure for InterPro Entry Q7Z5L2

    ProtoNet protein and cluster: Q7Z5L2


    Find genes that share domains with R3HCC1L           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
         
    Find genes that share ontologies with R3HCC1L           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for R3HCC1L

    miRNA
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    miRTarBase miRNAs that target R3HCC1L:
    hsa-mir-152-3p (MIRT045820)

    Block miRNA regulation of human, mouse, rat R3HCC1L using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate R3HCC1L
    SwitchGear 3'UTR luciferase reporter plasmidR3HCC1L 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0035145colocalizes with exon-exon junction complex IDA--

    Find genes that share ontologies with R3HCC1L           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for R3HCC1L
    Interactions:

        Search GeneGlobe Interaction Network for R3HCC1L

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5 Interacting proteins for R3HCC1L (ENSP000002989994) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TSFMENSP000003883304STRING: ENSP00000388330
    SSBP1ENSP000002653044STRING: ENSP00000265304
    MAGOHENSP000003605254STRING: ENSP00000360525
    MAGOHBENSP000003192404STRING: ENSP00000319240
    EIF3BENSP000003541254STRING: ENSP00000354125
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for R3HCC1L (R3HCL)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for R3HCC1L gene (5 alternative transcripts): 
    NM_001256619.1  NM_001256620.1  NM_001256621.1  NM_014472.4  NM_138469.2  

    Unigene Cluster for R3HCC1L:

    R3H domain and coiled-coil containing 1-like
    Hs.419800  [show with all ESTs]
    Unigene Representative Sequence: NM_001256619
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000298999(uc001kow.4 uc001koy.4 uc009xvx.3 uc009xvy.3 uc001koz.4)
    ENST00000370586 ENST00000370584 ENST00000314594(uc001kox.4)
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    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat R3HCC1L
      QuantiFast Probe-based Assays in human, mouse, rat R3HCC1L

    Additional mRNA sequence: 

    AF050198.1 AF525304.1 AK058187.1 AK094479.1 AK292546.1 BC009231.2 BC047908.1 BC098175.1 
    BC098268.1 BC098359.1 BC099848.1 

    11 DOTS entries:

    DT.97775359  DT.201397  DT.100023351  DT.121212795  DT.121212819  DT.102824855  DT.121212808  DT.121212788 
    DT.99932165  DT.121212769  DT.121212803 

    Selected AceView cDNA sequences (see all 47):

    AI453689 BM717339 BQ277147 AI344204 BE902653 BC009231 BC047908 CA427577 
    BQ429757 BM993056 AU130447 CB528783 AU130441 BU680170 BM969188 BF112221 
    AI654913 AI963584 BP364462 AW273890 BM805122 AI868416 BX646236 AK058187 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for R3HCC1L (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for R3HCC1L

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    R3HCC1L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    R3HCC1L Expression
    About this image

    R3HCC1L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    R3HCC1L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.419800

    UniProtKB/Swiss-Prot: R3HCL_HUMAN, Q7Z5L2
    Tissue specificity: Expressed in placenta

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for R3HCC1L

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for R3HCC1L gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia R3hcc1l1 , 5 DNA segment, Chr 19, ERATO Doi 386, expressed5
    R3H domain and coiled-coil containing 1 like1
    78.65(n)1
    66.01(a)1
      19 (36.47 cM)5
    520131  NM_177464.41  NP_803415.11 
     425187595 
    chicken
    (Gallus gallus)
    Aves R3HCC1L6
    R3H domain and coiled-coil containing 1-like
    55(a)
    1 ↔ 1
    6(21806111-21811176)
    lizard
    (Anolis carolinensis)
    Reptilia R3HCC1L6
    R3H domain and coiled-coil containing 1-like
    79(a)
    1 ↔ 1
    3(38851756-38859378)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.196312 Transcribed sequence with weak similarity to protein more 77.62(n)    BX781716.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc76b112 Transcribed sequence with weak similarity to protein more 74.69(n)    BG308034.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG21626
    --
    20(a)
    1 → many
    3L(3035196-3040469)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for R3HCC1L gene
    R3HCC12  
    2 SIMAP similar genes for R3HCC1L using alignment to 2 protein entries:     R3HCL_HUMAN (see all proteins):
    C10orf28    R3HCC1

    Find genes that share paralogs with R3HCC1L           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for R3HCC1L
    PGOHUM00000239736


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for R3HCC1L (see all 2080)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1124285141,2
    C,F--93517890(+) ATACTG/AGATTC 5 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1871457921,2
    --93517958(+) CATGGA/CAGAGC 5 -- us2k10--------
    rs1379208791,2
    --93518028(+) GTTAGA/GGTTTT 5 -- us2k10--------
    rs70720561,2
    C,F,A--93518073(+) gggtgT/Ctgctg 5 -- us2k111Minor allele frequency- C:0.36NA WA CSA EA 373
    rs70902061,2
    C,F,A,H--93518138(+) ccaccG/Tctggg 5 -- us2k115Minor allele frequency- T:0.40NS EA NA WA CSA 729
    rs1894964331,2
    C--93518218(+) GGAGAC/TAGTGA 5 -- us2k10--------
    rs1421754121,2
    --93518418(+) AGCATA/GGATTC 5 -- us2k10--------
    rs70724741,2
    C,F,A,H--93518449(+) attgtG/Actctg 5 -- us2k115Minor allele frequency- A:0.35NS EA NA WA CSA 781
    rs1457826301,2
    --93518681(+) TCTGCA/GGCTCG 5 -- us2k10--------
    rs1814041511,2
    --93518717(+) TTTGGC/TGACCA 5 -- us2k10--------

    HapMap Linkage Disequilibrium report for R3HCC1L (99894381 - 100004654 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for R3HCC1L: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing R3HCC1L
    DNA2.0 Custom Variant and Variant Library Synthesis for R3HCC1L

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for R3HCC1L gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with R3HCC1L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    4. The development of a genetic profile of placental gene expression during the first trimester of pregnancy: a potential tool for identifying novel secreted markers. (PubMed id 10867487)1, 2 Page N.M.... Lowry P.J. (Fetal Diagn. Ther. 2000)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. SMG6 interacts with the exon junction complex via two conserved EJC-binding motifs (EBMs) required for nonsense-mediated mRNA decay. (PubMed id 20930030)2 Kashima I....Izaurralde E. (amp 2010)
    7. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    9. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (Nat. Biotechnol. 2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 27291 HGNC: 23512 AceView: C10orf28 Ensembl:ENSG00000166024 euGenes: HUgn27291
    ECgene: R3HCC1L H-InvDB: R3HCC1L

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for R3HCC1L Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for R3HCC1L gene:
    Search GeneIP for patents involving R3HCC1L

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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