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Aliases for RIBC1 Gene

Aliases for RIBC1 Gene

  • RIB43A Domain With Coiled-Coils 1 2 3 5
  • RIB43A-Like With Coiled-Coils Protein 1 3
  • 2610028I09Rik 3

External Ids for RIBC1 Gene

Previous GeneCards Identifiers for RIBC1 Gene

  • GC0XP053332
  • GC0XP053466
  • GC0XP050507

Summaries for RIBC1 Gene

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.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RIBC1 Gene

Genomics for RIBC1 Gene

Regulatory Elements for RIBC1 Gene

Enhancers for RIBC1 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
GH0XF053373 1.2 Ensembl ENCODE 12.2 -48.1 -48099 1.4 HDAC1 ARNT CREB3L1 PTRF GLIS2 GATA2 ZNF366 SCRT2 ZBTB11 USF2 RPSAP62 ENSG00000207408 IQSEC2 RIBC1 SMC1A ENSG00000233250 HSD17B10 PIR40105 LOC101060056
GH0XF053481 0.6 Ensembl 11.6 +59.3 59323 0.8 CTCF KLF1 ZNF654 RAD21 OSR2 SMC3 ZNF143 PRDM10 SETDB1 ENSG00000207408 RPSAP62 IQSEC2 ENSG00000233250 HSD17B10 RIBC1 SMC1A GC0XP053462 VTRNA3-1P GC0XM053556
GH0XF053251 0.6 ENCODE 11.6 -171.1 -171117 0.2 ZFP69B ZFHX2 KLF1 ZNF692 KDM1A ZIC2 EGR2 RIBC1 SMC1A ENSG00000233250 HSD17B10 GC0XP053261 KDM5C
GH0XF053713 1.5 FANTOM5 Ensembl ENCODE 4.6 +293.5 293492 5.6 HDGF TBP PKNOX1 TBL1XR1 WRNIP1 SIN3A BMI1 RAD21 EGR1 ETV6 HSD17B10 RIBC1 PHF8 HUWE1 SMC1A KDM5C GC0XM053749
GH0XF053286 1.2 Ensembl ENCODE 3.9 -135.1 -135116 3.1 PKNOX1 SIN3A ZNF2 ZNF48 ZNF121 GLIS2 ZNF143 FOS ZNF263 REST KANTR KDM5C ACTG1P10 ENSG00000233250 RIBC1 GC0XP053261 IQSEC2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RIBC1 on UCSC Golden Path with GeneCards custom track

Promoters for RIBC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000478665 -290 2001 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143

Genomic Location for RIBC1 Gene

Chromosome:
X
Start:
53,422,690 bp from pter
End:
53,431,120 bp from pter
Size:
8,431 bases
Orientation:
Plus strand

Genomic View for RIBC1 Gene

Genes around RIBC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RIBC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RIBC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RIBC1 Gene

Proteins for RIBC1 Gene

  • Protein details for RIBC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N443-RIBC1_HUMAN
    Recommended name:
    RIB43A-like with coiled-coils protein 1
    Protein Accession:
    Q8N443
    Secondary Accessions:
    • B4E297
    • E9PDU2
    • Q5H931
    • Q96A80

    Protein attributes for RIBC1 Gene

    Size:
    379 amino acids
    Molecular mass:
    44015 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RIBC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RIBC1 Gene

Post-translational modifications for RIBC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RIBC1 Gene

No data available for DME Specific Peptides for RIBC1 Gene

Domains & Families for RIBC1 Gene

Protein Domains for RIBC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RIBC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N443

UniProtKB/Swiss-Prot:

RIBC1_HUMAN :
  • Belongs to the RIB43A family.
Family:
  • Belongs to the RIB43A family.
genes like me logo Genes that share domains with RIBC1: view

No data available for Gene Families for RIBC1 Gene

Function for RIBC1 Gene

Gene Ontology (GO) - Molecular Function for RIBC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with RIBC1: view
genes like me logo Genes that share phenotypes with RIBC1: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RIBC1 Gene

Localization for RIBC1 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 RIBC1 gene
Compartment Confidence
nucleus 3
cytosol 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for RIBC1 Gene

Pathways & Interactions for RIBC1 Gene

SuperPathways for RIBC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RIBC1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for RIBC1 Gene

Transcripts for RIBC1 Gene

Unigene Clusters for RIBC1 Gene

RIB43A domain with coiled-coils 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RIBC1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11
SP1: - - - -
SP2: - - - - - - -
SP3: - -
SP4: - - - -
SP5: - - -
SP6: -
SP7: - -

Relevant External Links for RIBC1 Gene

GeneLoc Exon Structure for
RIBC1
ECgene alternative splicing isoforms for
RIBC1

Expression for RIBC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RIBC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RIBC1 Gene

This gene is overexpressed in Testis (x16.3).

Protein differential expression in normal tissues from HIPED for RIBC1 Gene

This gene is overexpressed in Heart (38.0) and Testis (31.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RIBC1 Gene



Protein tissue co-expression partners for RIBC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RIBC1 Gene:

RIBC1

SOURCE GeneReport for Unigene cluster for RIBC1 Gene:

Hs.351743
genes like me logo Genes that share expression patterns with RIBC1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for RIBC1 Gene

Orthologs for RIBC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RIBC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RIBC1 34 35
  • 99.47 (n)
dog
(Canis familiaris)
Mammalia RIBC1 34 35
  • 81.97 (n)
cow
(Bos Taurus)
Mammalia RIBC1 34 35
  • 80.39 (n)
rat
(Rattus norvegicus)
Mammalia Ribc1 34
  • 74.62 (n)
mouse
(Mus musculus)
Mammalia Ribc1 34 16 35
  • 73.63 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RIBC1 35
  • 52 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RIBC1 35
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RIBC1 35
  • 41 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ribc1 34
  • 53.3 (n)
zebrafish
(Danio rerio)
Actinopterygii ribc1 34 35
  • 48.4 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7264 35
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
OneToOne
Species where no ortholog for RIBC1 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)
  • chicken (Gallus gallus)
  • 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 RIBC1 Gene

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

Paralogs for RIBC1 Gene

Paralogs for RIBC1 Gene

(1) SIMAP similar genes for RIBC1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RIBC1: view

Variants for RIBC1 Gene

Sequence variations from dbSNP and Humsavar for RIBC1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs122461163 Pathogenic 53,431,450(-) CCTCA(A/G)TGGAG downstream-variant-500B, reference, missense
rs62626305 Pathogenic 53,431,445(-) ATGGA(C/G)AGGTC downstream-variant-500B, reference, missense
rs797044618 Uncertain significance 53,422,601(-) GCCGT(C/T)ATGGG upstream-variant-2KB, utr-variant-5-prime
rs1264011 Benign 53,422,619(+) CCGGC(A/G)GCAGT upstream-variant-2KB, utr-variant-5-prime
rs111942367 -- 53,426,115(+) GCTGG(C/T)GACAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RIBC1 Gene

Variant ID Type Subtype PubMed ID
nsv6908 CNV insertion 18451855
nsv435891 CNV deletion 17901297
nsv1132241 CNV deletion 24896259
esv2740175 CNV deletion 23290073

Variation tolerance for RIBC1 Gene

Residual Variation Intolerance Score: 38.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.23; 5.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RIBC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RIBC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RIBC1 Gene

Disorders for RIBC1 Gene

Relevant External Links for RIBC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RIBC1

No disorders were found for RIBC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RIBC1 Gene

Publications for RIBC1 Gene

  1. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 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 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
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  5. Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. (PMID: 18252223) Froyen G. … Gecz J. (Am. J. Hum. Genet. 2008) 3 64

Products for RIBC1 Gene

Sources for RIBC1 Gene

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