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Aliases for RCC1L Gene

Aliases for RCC1L Gene

  • RCC1 Like 2 3 4 5
  • Williams-Beuren Syndrome Chromosomal Region 16 Protein 3 4
  • Williams-Beuren Syndrome Chromosome Region 16 2 3
  • WBSCR16 3 4
  • RCC1-Like G Exchanging Factor-Like Protein 3

External Ids for RCC1L Gene

Previous HGNC Symbols for RCC1L Gene

  • WBSCR16

Summaries for RCC1L Gene

Entrez Gene Summary for RCC1L Gene

  • This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

GeneCards Summary for RCC1L Gene

RCC1L (RCC1 Like) is a Protein Coding gene. Diseases associated with RCC1L include Williams-Beuren Syndrome. An important paralog of this gene is RPGR.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RCC1L Gene

Genomics for RCC1L Gene

Regulatory Elements for RCC1L Gene

Enhancers for RCC1L 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
GH07G075072 1.1 ENCODE 12.2 +0.8 815 2.0 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207 SP3 RFC2 RCC1L MIR590 GTF2IRD2 ENSG00000277127
GH07G075092 1.2 ENCODE dbSUPER 5.8 -19.0 -19001 0.9 HDGF PKNOX1 ATF1 ARID4B GLIS2 GATA2 ZNF143 FOS KLF13 SP3 RCC1L GTF2IRD2B GC07P075127
GH07G075151 0.8 Ensembl 5.1 -77.0 -76973 0.4 HDGF CTCF ESRRA KLF1 RB1 ZMYM3 NFXL1 RAD21 ZNF143 SMC3 RCC1L NCF1C GC07P075127
GH07G075094 0.2 dbSUPER 5.3 -21.5 -21476 1.7 RCC1L GTF2IRD2B GC07P075127
GH07G075077 0.6 Ensembl 0.7 -3.6 -3573 0.4 CTCF ZNF654 RB1 NR2F1 CEBPB REST ZEB2 RAD21 RCC1L GTF2IRD2B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RCC1L on UCSC Golden Path with GeneCards custom track

Promoters for RCC1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000213716 628 1601 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207 SP3

Genomic Location for RCC1L Gene

Chromosome:
7
Start:
75,027,119 bp from pter
End:
75,074,228 bp from pter
Size:
47,110 bases
Orientation:
Minus strand

Genomic View for RCC1L Gene

Genes around RCC1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RCC1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RCC1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RCC1L Gene

Proteins for RCC1L Gene

  • Protein details for RCC1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96I51-RCC1L_HUMAN
    Recommended name:
    RCC1-like G exchanging factor-like protein
    Protein Accession:
    Q96I51
    Secondary Accessions:
    • D3DXK0
    • F5GX55
    • F5H6C7
    • Q548B1
    • Q8IW88
    • Q8N572
    • Q9H0G7

    Protein attributes for RCC1L Gene

    Size:
    464 amino acids
    Molecular mass:
    49997 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RCC1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RCC1L Gene

Post-translational modifications for RCC1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RCC1L Gene

No data available for DME Specific Peptides for RCC1L Gene

Domains & Families for RCC1L Gene

Protein Domains for RCC1L Gene

Suggested Antigen Peptide Sequences for RCC1L Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RCC1L: view

No data available for Gene Families and UniProtKB/Swiss-Prot for RCC1L Gene

Function for RCC1L Gene

Gene Ontology (GO) - Molecular Function for RCC1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
genes like me logo Genes that share ontologies with RCC1L: view
genes like me logo Genes that share phenotypes with RCC1L: view

Animal Models for RCC1L Gene

MGI Knock Outs for RCC1L:

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RCC1L Gene

Localization for RCC1L 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 RCC1L gene
Compartment Confidence
nucleus 4
mitochondrion 3
cytosol 2

Gene Ontology (GO) - Cellular Components for RCC1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with RCC1L: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RCC1L Gene

Pathways & Interactions for RCC1L Gene

SuperPathways for RCC1L Gene

No Data Available

Interacting Proteins for RCC1L Gene

Gene Ontology (GO) - Biological Process for RCC1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with RCC1L: view

No data available for Pathways by source and SIGNOR curated interactions for RCC1L Gene

Drugs & Compounds for RCC1L Gene

No Compound Related Data Available

Transcripts for RCC1L Gene

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RCC1L Gene

No ASD Table

Relevant External Links for RCC1L Gene

GeneLoc Exon Structure for
RCC1L
ECgene alternative splicing isoforms for
RCC1L

Expression for RCC1L Gene

NURSA nuclear receptor signaling pathways regulating expression of RCC1L Gene:

RCC1L

mRNA Expression by UniProt/SwissProt for RCC1L Gene:

Q96I51-RCC1L_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for RCC1L Gene

  • Nervous system(2.6)
  • Pancreas(2)

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RCC1L Gene

Orthologs for RCC1L Gene

This gene was present in the common ancestor of animals.

Orthologs for RCC1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WBSCR16 34
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia WBSCR16 34
  • 87.57 (n)
dog
(Canis familiaris)
Mammalia LOC489793 34
  • 87.24 (n)
rat
(Rattus norvegicus)
Mammalia Wbscr16 34
  • 83.99 (n)
mouse
(Mus musculus)
Mammalia Wbscr16 34
  • 83.95 (n)
Rcc1l 16
chicken
(Gallus gallus)
Aves WBSCR16 34
  • 72.01 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia wbscr16 34
  • 68.04 (n)
zebrafish
(Danio rerio)
Actinopterygii wbscr16 34
  • 67.39 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3862 34
  • 52.8 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007506 34
  • 51.09 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_W09G3.7 34
  • 43.49 (n)
Species where no ortholog for RCC1L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)

Evolution for RCC1L Gene

ENSEMBL:
Gene Tree for RCC1L (if available)
TreeFam:
Gene Tree for RCC1L (if available)

Paralogs for RCC1L Gene

Paralogs for RCC1L Gene

genes like me logo Genes that share paralogs with RCC1L: view

Variants for RCC1L Gene

Sequence variations from dbSNP and Humsavar for RCC1L Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000023208 -- 75,051,825(+) ACACA(C/T)ACACA intron-variant
rs1000088023 -- 75,060,638(+) GGTGG(A/C)CAAGC intron-variant
rs1000176824 -- 75,057,407(+) CCACC(A/G)CGCCC intron-variant
rs1000252114 -- 75,057,538(+) TAACA(A/C)TGCAC reference, missense
rs1000431179 -- 75,063,685(+) AGGCC(A/G)AGGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RCC1L Gene

Variant ID Type Subtype PubMed ID
dgv11452n54 CNV loss 21841781
dgv3593n106 CNV deletion 24896259
esv23669 CNV gain+loss 19812545
esv2658348 CNV deletion 23128226
esv3613718 CNV loss 21293372
esv3613719 CNV gain 21293372
nsv1032137 CNV gain 25217958
nsv1075972 CNV deletion 25765185
nsv607498 CNV loss 21841781
nsv7402 OTHER inversion 18451855
nsv8145 CNV gain 18304495
nsv951355 CNV deletion 24416366

Variation tolerance for RCC1L Gene

Gene Damage Index Score: 7.22; 81.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RCC1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RCC1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RCC1L Gene

Disorders for RCC1L Gene

MalaCards: The human disease database

(1) MalaCards diseases for RCC1L Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
- elite association - COSMIC cancer census association via MalaCards
Search RCC1L in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RCC1L_HUMAN
  • Note=WBSCR16 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of WBSCR16 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. {ECO:0000305 PubMed:12073013}.

Relevant External Links for RCC1L

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RCC1L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RCC1L
genes like me logo Genes that share disorders with RCC1L: view

No data available for Genatlas for RCC1L Gene

Publications for RCC1L Gene

  1. Identification of additional transcripts in the Williams-Beuren syndrome critical region. (PMID: 12073013) Merla G. … Reymond A. (Hum. Genet. 2002) 2 3 4 64
  2. 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
  3. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4 64
  4. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4 64
  5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd B.J. … Pagliarini D.J. (Mol. Cell 2016) 3 64

Products for RCC1L Gene

Sources for RCC1L Gene

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