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RIBC1 Gene

protein-coding   GIFtS: 43
GCID: GC0XP053449

RIB43A Domain With Coiled-Coils 1

  Search for RIBC1
at  

(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
RIB43A Domain With Coiled-Coils 11 2
2610028I09Rik2
RIB43A-Like With Coiled-Coils Protein 12

External Ids:    HGNC: 265371   Entrez Gene: 1587872   Ensembl: ENSG000001584237   UniProtKB: Q8N4433   

Export aliases for RIBC1 gene to outside databases

Previous GC identifers: GC0XP053332 GC0XP053466 GC0XP050507


(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 RIBC1 Gene:
RIBC1 (RIB43A domain with coiled-coils 1) is a protein-coding gene. An important paralog of this gene is RIBC2.


(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_000023.10  NT_011630.15  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RIBC1 gene promoter:
         AREB6   Nkx3-1   NF-1   NF-1/L   p53   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRIBC1 promoter sequence
   Search Chromatin IP Primers for RIBC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RIBC1


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

Entrez Gene cytogenetic band: Xp11.22   Ensembl cytogenetic band:  Xp11.22   HGNC cytogenetic band: Xp11.23

RIBC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RIBC1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP053449:  view genomic region     (about GC identifiers)

Start:
53,449,639 bp from pter      End:
53,458,059 bp from pter
Size:
8,421 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RIBC1_HUMAN, Q8N443 (See protein sequence)
Recommended Name: RIB43A-like with coiled-coils protein 1  
Size: 379 amino acids; 44015 Da
Secondary accessions: B4E297 E9PDU2 Q5H931 Q96A80
Alternative splicing: 3 isoforms:  Q8N443-1   Q8N443-2   Q8N443-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RIBC1: NX_Q8N443

Explore proteomics data for RIBC1 at MOPED


See RIBC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (3 alternative transcripts): 
NP_001026915.1  NP_001253982.1  NP_659405.1  

ENSEMBL proteins: 
 ENSP00000332142   ENSP00000402080   ENSP00000364476   ENSP00000401463  

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(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:
 IPR008805 RIB43A

Graphical View of Domain Structure for InterPro Entry Q8N443

ProtoNet protein and cluster: Q8N443

UniProtKB/Swiss-Prot: RIBC1_HUMAN, Q8N443
Similarity: Belongs to the RIB43A family


Find genes that share domains with RIBC1           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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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Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RIBC1
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SwitchGear 3'UTR luciferase reporter plasmids (see all 2): RIBC1 3' UTR sequence
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GenScript: all cDNA clones in your preferred vector (see all 2): RIBC1 (NM_144968)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RIBC1

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RIBC1


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus3
cytosol2

(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 RIBC1
Interactions:

    Search GeneGlobe Interaction Network for RIBC1

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

2 Interacting proteins for RIBC1 (Q8N4433 ENSP000003644764) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
MAPK6Q166593I2D: score=2 
ALKBH4ENSP000002925664STRING: ENSP00000292566
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 RIBC1



(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 RIBC1 gene (3 alternative transcripts): 
NM_001031745.4  NM_001267053.3  NM_144968.3  

Unigene Cluster for RIBC1:

RIB43A domain with coiled-coils 1
Hs.351743  [show with all ESTs]
Unigene Representative Sequence: NM_144968
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000329209 ENST00000457095(uc004dsj.1) ENST00000375327(uc004dsk.3)
ENST00000490702 ENST00000414955(uc011mog.1)
miRNA
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5 qRT-PCR Assays for microRNAs that regulate RIBC1:
hsa-miR-27b* hsa-miR-223 hsa-miR-148b* hsa-miR-375 hsa-miR-556-3p
SwitchGear 3'UTR luciferase reporter plasmids (see all 2): RIBC1 3' UTR sequence
Inhib. RNA
Products:
     
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Predesigned siRNA for gene silencing in human, mouse, rat RIBC1
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RIBC1
Primer
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Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RIBC1
  QuantiTect SYBR Green Assays in human, mouse, rat RIBC1
  QuantiFast Probe-based Assays in human, mouse, rat RIBC1

Additional mRNA sequence: 

AK057345.1 AK290346.1 AK292871.1 AK304179.1 BC036767.1 

4 DOTS entries:

DT.304282  DT.91697031  DT.86856607  DT.102821054 

Selected AceView cDNA sequences (see all 29):

BC036767 BM791226 AW194015 AW271822 NM_144968 BM857232 BM978850 AK057345 
AA723912 AA889844 BQ775195 BM560435 AI127598 AI890123 AI024866 AA383258 
BM563655 BF433577 AA884871 AI989855 CA433728 CD692757 BM715618 BP368983 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for RIBC1 (see all 7)    About this scheme

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


ECgene alternative splicing isoforms for RIBC1

(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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RIBC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GGGGTGGATG
RIBC1 Expression
About this image


RIBC1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 
 Blood (Hematopoietic System)
         Proerythroblasts Hematopoietic Bone Marrow
RIBC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

RIBC1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.351743
    Custom PCR Arrays for RIBC1
Primer
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RIBC1

(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 RIBC1 gene from Selected species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Ribc11 , 5 RIB43A domain with coiled-coils 11, 5 73.63(n)1
66.4(a)1
  X (68.46 cM)5
666111  NM_025660.21  NP_079936.11 
 1520045825 
lizard
(Anolis carolinensis)
Reptilia RIBC16
RIB43A domain with coiled-coils 1
41(a)
1 ↔ 1
2(89290922-89317644)
tropical clawed frog
(Xenopus tropicalis)
Amphibia ribc11 RIB43A domain with coiled-coils 1 53.3(n)
41.95(a)
  100216275  NM_001142228.2  NP_001135700.1 
zebrafish
(Danio rerio)
Actinopterygii ribc11 RIB43A domain with coiled-coils 1 48.4(n)
36.36(a)
  791181  NM_001080663.1  NP_001074132.1 
fruit fly
(Drosophila melanogaster)
Insecta CG72646
--
24(a)
1 → many
3L(11822130-11823944)


ENSEMBL Gene Tree for RIBC1 (if available)
TreeFam Gene Tree for RIBC1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for RIBC1 gene
RIBC22  
1 SIMAP similar gene for RIBC1 using alignment to 1 protein entry:     RIBC1_HUMAN:
RIBC2

Find genes that share paralogs with RIBC1           About GenesLikeMe



(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 RIBC1 (see all 83)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr X posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs760017751,2
C--50509490(+) AATGGA/GGCCAG 3 -- int10--------
rs1883823031,2
--50509546(+) GAGGGC/TGGATC 3 -- int10--------
rs1926499621,2
--50509753(+) CAAAGA/GCCCCG 3 -- int10--------
rs1847427531,2
--50510399(+) AAGGAA/GTGTTG 3 -- int10--------
rs1900741451,2
--50510519(+) AGGTGC/GTTTCA 3 -- int10--------
rs1919665131,2
--50510608(+) TGCAGA/TGAGGG 3 -- int10--------
rs48303461,2
C,F,H--50510703(+) cagagA/Ctggag 3 -- int19Minor allele frequency- C:0.02NS EA NA 980
rs59781321,2
C,F,H--50510830(+) TGGGCC/TATTCC 3 -- int118Minor allele frequency- T:0.37NS EA NA WA CSA 1665
rs1444610981,2
C,F--50510901(+) GCCATC/TGAGGC 6 I syn11Minor allele frequency- T:0.00NA 4536
rs1465588461,2
C--50510997(+) TTGCTC/TAGGAT 3 -- int10--------

HapMap Linkage Disequilibrium report for RIBC1 (53449639 - 53458059 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for RIBC1:    About this table    
Variant IDTypeSubtypePubMed ID
esv2740175CNV Deletion23290073
nsv435891CNV Deletion17901297
nsv6908CNV Insertion18451855

Site Specific Mutation Identification with PCR Assays
1 Copy Number PCR Panel containing RIBC1:
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(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 RIBC1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with RIBC1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
  2. 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)
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
  4. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. (PubMed id 18252223)1 Froyen G.... Gecz J. (Am. J. Hum. Genet. 2008)
  5. A transcript finishing initiative for closing gaps in the human transcriptome. (PubMed id 15197164)1 Sogayar M.C....Zanette D.L. (Genome Res. 2004)
  6. 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)
  7. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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, Kegg, and/or H-InvDB)
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Entrez Gene: 158787 HGNC: 26537 AceView: RIBC1 Ensembl:ENSG00000158423 euGenes: HUgn158787
ECgene: RIBC1 H-InvDB: RIBC1

(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 RIBC1 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 RIBC1 gene:
Search GeneIP for patents involving RIBC1

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, LSBio, eBioscience, 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
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 Custom PCR Arrays for RIBC1 Search Chromatin IP Primers for RIBC1
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RIBC1
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 Search Addgene for plasmids for RIBC1
  Search eBioscience for proteins for RIBC1
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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