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R3HCC1 Gene

protein-coding   GIFtS: 43

GC08P023202
R3H domain and coiled-coil containing 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
DKFZp564N123 1, 2
Descriptions
R3H domain and coiled-coil containing 1 2
External Ids
HGNC: 273291
Entrez Gene: 2030692
UniProtKB: Q9Y3T63
Ensembl: ENSG000001046797
Search outside databases for aliases for R3HCC1 gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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  --
(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the R3HCC1 gene  

Entrez Gene cytogenetic band: 8p21.3   Ensembl cytogenetic band:  8p21.3   HGNC cytogenetic band: 8p21.3

R3HCC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P023202:     (about GC identifiers)

Start:
23,201,387 bp from pter
End:
23,209,737 bp from pter
Size:
8,351 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000008.9  NT_023666.17  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: R3HC1_HUMAN, Q9Y3T6 (See protein sequence)
Recommended Name: R3H and coiled-coil domain-containing protein 1  
Size: 480 amino acids; 53259 Da
Sequence caution: Sequence=CAB43396.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.
Potential poly-A sequence;

REFSEQ proteins: NP_001129580.1  

ENSEMBL proteins: 
ENSP00000265806 


Human Recombinant Proteins 
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                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 


Antibodies for R3HCC1: 
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Sigma-Aldrich Antibodies for R3HCC1
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Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
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Search Novus for antibodies for R3HCC1

Assays for R3HCC1: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro domain/family:
 IPR001374 R3H_ss_bd


   GeneDecks  R3HCC1 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q9Y3T6

ProtoNet protein and cluster: Q9Y3T6

1 Blocks protein family: IPB001374 Single-stranded nucleic acid binding R3H

UniProtKB/Swiss-Prot: R3HC1_HUMAN, Q9Y3T6
Similarity: Contains 1 R3H domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (R3HCC1)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001136108

              Applied Biosystems Silencer® siRNAs for R3HCC1

              Sigma-Aldrich siRNA for R3HCC1  
                     Browse shRNA at Sigma-Aldrich  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Browse Clone Ranger at Invitrogen for clones
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001136108
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001136108
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_001136108 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: XM_114618

1 Gene Ontology (GO) molecular function term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0003676 nucleic acid binding IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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  --
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for R3HCC1

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (R3HCC1)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001136108

              Sigma-Aldrich siRNA for R3HCC1  
                     Browse shRNA at Sigma-Aldrich  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_001136108  

REFSEQ mRNAs for R3HCC1 gene: 

NM_001136108.1   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_001136108  

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001136108
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001136108
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_001136108 

Additional cDNA sequence: 

AK293465.1 AL050297.1 BC032421.1 BC050572.1 BC128545.1 BC128546.1 BC143822.1 BC143827.1 
BC143829.1 CR590969.1 CR591686.1 CR591817.1 CR600229.1 CR602549.1 CR605355.1 CR605793.1 
CR610879.1 CR617722.1 CR626128.1 

14 DOTS entries:

DT.91764468  DT.100698776  DT.75102174  DT.121478637  DT.455906  DT.91764467  DT.100790011  DT.91785317 
DT.95099656  DT.97845456  DT.100849179  DT.40274550  DT.97797797  DT.97845454 

24/196 AceView cDNA sequences (see all 196 ):

AI962231 AL521715 CR626128 CR610879 BG818561 BM694064 AL527168 CR600229 
BM785376 CR591817 CR591686 CR590969 CR617722 CR605793 AL518119 CR605355 
BF133557 CA309685 BE298874 F36934 BI770649 CR602549 BQ278756 BG820589 

highest scoring ESTs for R3HCC1:

AL050297 AA304020 AA335562 AA588352 AA593332 AA593340 AA742572 AA865071 AA977531 AA988767 

Unigene Cluster for R3HCC1:

R3H domain and coiled-coil containing 1
Hs.458644  [show with all ESTs]
Unigene Representative Sequence: NM_001136108


GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for R3HCC1 (see all 6 )

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

About this scheme

ECgene alternative splicing isoforms for R3HCC1

1 Ensembl transcript including schematic representation:
ENST00000265806  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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R3HCC1 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for R3HCC1

1 / 2 / 3

5 probe-sets matching R3HCC1 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

35156_at2, 3 U133-A 1 1.00 1.00 1.00 1.00 AL050297 1.00 1.00 1.00 1

35156_at2, 3 U133-A 1 1.00 1.00 -- -- AL050297 1.00 1.00 1.00 1

212866_at2, 3 U133-A 1 1.00 1.00 -- -- AI081543 0.80 1.00 0.91 1

35156_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

212866_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
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Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: GGGTGTGGTG

SOURCE GeneReport for Unigene cluster: Hs.458644
(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for R3HCC1 gene from 5/6 species (see all 6 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
R3HCC11   -- R3H domain and coiled-coil containing 1 82.46(n)
78.46(a)
477380  XM_534574.2  XP_534574.2 
chimpanzee
(Pan troglodytes)
R3HCC11   -- R3H domain and coiled-coil containing 1 99.03(n)
98.96(a)
464052  XM_519655.2  XP_519655.2 
cow
(Bos taurus)
R3HCC11   -- R3H domain and coiled-coil containing 1 80.59(n)
76.37(a)
614496  XM_866029.2  XP_871122.1 
rat
(Rattus norvegicus)
R3hcc11   -- R3H domain and coiled-coil containing 1 79.05(n)
72.97(a)
361064  XM_341347.3  XP_341348.3 
mouse
(Mus musculus)
R3hcc11, 5 14 (32.50 cM)5
R3H domain and coiled-coil containing 11, 5 77.63(n)1
73.07(a)1
718431  XM_001479474.11  XP_001479524.11 
 AA4077965  AI4132545  (see all 15)
About this table        Species with no ortholog for R3HCC1

ENSEMBL Gene Tree for R3HCC1
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for R3HCC1 gene
C10orf282  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/66 NCBI SNPs in R3HCC1 are shown (see all 66 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 77)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 8 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs117777551,2
A,C,F,H23201265(+) ATGGAG/AGAAAA 1 -- ng51 trp34Minor allele frequency- A:0.13EU EA WA 418
rs22727611,2
A,C,F,H23204885(-) CTCCAT/CGAAGG 2 M/V mis19Minor allele frequency- C:0.42MN EU EA WA 1020
rs38085361,2
A,C,F,H23203509(-) CCTGCT/CTGCGC 2 K/R mis1 ut51 ese39Minor allele frequency- C:0.30EA EU WA 2110
rs78285701,2
A,C,F,H23200713(+) AGGGAT/CTGCAT 1 -- ng514Minor allele frequency- C:0.31EU EA WA 412
--
rs115466821,2
C,F,H23202040(-) TCCGGT/CGGACG 2 R/H mis1 ut51 ese38Minor allele frequency- C:0.10EU EA WA 808
rs48721011,2
A,C23200179(+) TGTGGC/TCTGCT 1 -- ng510--------
--
rs135301,2
C23206823(-) AGGCCC/AGGCAG 2 R/L mis14Minor allele frequency- A:0.36EU EA WA 418
--
rs70017201,2
H23203611(+) CCCCAA/CCTCTG 2 N/T mis1 ut51 ese34Minor allele frequency- C:0.00EU EA WA 406
rs69805421,2
A23203361(+) GCCGCA/GCTCCT 2 A/T mis1 ut51 ese30--------
rs22727621,2
A,C,F,H23204875(-) GAGGAC/TGTGTC 2 T/T syn1 ese35Minor allele frequency- T:0.46MN EU EA WA 596
About this table

HapMap Linkage Disequilibrium images for R3HCC1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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  --

(Possibly Related Articles in Doctor's Guide)
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  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
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3 PubMed articles for R3HCC1 gene:
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 203069 HGNC: 27329 AceView: LOC203069 Ensembl:ENSG00000104679 euGenes: HUgn203069
ECgene: R3HCC1 H-InvDB: R3HCC1
(According to HUGE)
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  --
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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(Available from WIS Yeda, Salk, Tufts)
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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for R3HCC1:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



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