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Aliases for RCC1 Gene

Aliases for RCC1 Gene

  • Regulator Of Chromosome Condensation 1 2 3 5
  • Cell Cycle Regulatory Protein 3 4
  • CHC1 3 4
  • Guanine Nucleotide-Releasing Protein 3
  • Regulator Of Chromosome Condensation 3
  • Chromosome Condensation Protein 1 4
  • Chromosome Condensation 1 2
  • SNHG3-RCC1 Readthrough 3
  • SNHG3-RCC1 3
  • RCC1-I 3

External Ids for RCC1 Gene

Previous HGNC Symbols for RCC1 Gene

  • CHC1

Previous GeneCards Identifiers for RCC1 Gene

  • GC01P028659
  • GC01P028665
  • GC01P028705
  • GC01P028717
  • GC01P028834
  • GC01P027086

Summaries for RCC1 Gene

GeneCards Summary for RCC1 Gene

RCC1 (Regulator Of Chromosome Condensation 1) is a Protein Coding gene. Diseases associated with RCC1 include Renal-Hepatic-Pancreatic Dysplasia and Retinitis Pigmentosa. Among its related pathways are Transport of the SLBP independent Mature mRNA and HIV Life Cycle. GO annotations related to this gene include chromatin binding and nucleosomal DNA binding. An important paralog of this gene is HERC2.

UniProtKB/Swiss-Prot for RCC1 Gene

  • Guanine-nucleotide releasing factor that promotes the exchange of Ran-bound GDP by GTP. Involved in the regulation of onset of chromosome condensation in the S phase. Binds both to the nucleosomes and double-stranded DNA. RCC1-Ran complex (together with other proteins) acts as a component of a signal transmission pathway that detects unreplicated DNA. Plays a key role in nucleo-cytoplasmic transport, mitosis and nuclear-envelope assembly.

Gene Wiki entry for RCC1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RCC1 Gene

Genomics for RCC1 Gene

Regulatory Elements for RCC1 Gene

Enhancers for RCC1 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
GH01F028551 1.2 ENCODE 12.8 +47.2 47228 2.5 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 CBX5 PRDX3P2 SNORA61 SNORD99 SNORA73B RCC1 SNHG3 PHACTR4 RAB42 GMEB1 ENSG00000237934
GH01F028345 1.3 Ensembl ENCODE 11 -159.6 -159629 1.5 ATF1 ARNT ARID4B ZNF2 GTF3C2 FOS SP3 JUNB ZNF623 ZNF518A GMEB1 SNHG3 SNORA73B TRNAU1AP PHACTR4 SNHG12 ENSG00000237934 SESN2 RCC1 PRDX3P2
GH01F028350 1.3 Ensembl ENCODE 11 -153.0 -153016 4.3 HDGF ATF1 PKNOX1 ARNT ZNF48 GTF3C2 ELK1 FOS SP3 SP5 PHACTR4 GMEB1 ENSG00000237934 SNHG3 SNORA73B TRNAU1AP SNHG12 MED18 SESN2 RCC1
GH01F028601 1.2 Ensembl ENCODE 11.6 +96.1 96054 1.4 SIN3A FEZF1 ZNF766 FOS JUNB TBX21 ZNF518A SMARCA4 MYNN GLIS1 PHACTR4 SNORD99 SNORA61 TRNAU1AP PRDX3P2 SNORA73B RCC1 SNHG3 TMEM200B GMEB1
GH01F028391 1.2 Ensembl ENCODE 10.9 -113.7 -113660 1.0 HDGF TBP HDAC1 PKNOX1 ATF1 NFRKB INSM2 ZBTB40 RFX5 CHAMP1 PHACTR4 SESN2 SNHG3 RCC1 SNORA73B PRDX3P2 TRNAU1AP ENSG00000206779
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RCC1 on UCSC Golden Path with GeneCards custom track

Promoters for RCC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000669436 857 3601 PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for RCC1 Gene

Chromosome:
1
Start:
28,505,943 bp from pter
End:
28,539,300 bp from pter
Size:
33,358 bases
Orientation:
Plus strand

Genomic View for RCC1 Gene

Genes around RCC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RCC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RCC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RCC1 Gene

Proteins for RCC1 Gene

  • Protein details for RCC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P18754-RCC1_HUMAN
    Recommended name:
    Regulator of chromosome condensation
    Protein Accession:
    P18754
    Secondary Accessions:
    • Q16269
    • Q6NT97

    Protein attributes for RCC1 Gene

    Size:
    421 amino acids
    Molecular mass:
    44969 Da
    Quaternary structure:
    • Interacts with ARRB2; the interaction is detected in the nucleus upon OR1D2 stimulation.
    Miscellaneous:
    • Patients with Raynaud disease produce antibodies that bind to RCC1.

    Three dimensional structures from OCA and Proteopedia for RCC1 Gene

    Alternative splice isoforms for RCC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RCC1 Gene

Post-translational modifications for RCC1 Gene

  • N-terminal methylation by METTL11A/NTM1 is required for binding double-stranded DNA and stable chromatin association. Di- and trimethylation produce a permanent positive charge on the amino group, which facilitates electrostatic binding to the phosphate groups on DNA, while inhibiting histone-binding. Methylated tail helps retain RCC1 on chromosomes during nucleotide exchange on Ran.
  • Ubiquitination at Lys 161 and Lys 335
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RCC1 Gene

Domains & Families for RCC1 Gene

Protein Domains for RCC1 Gene

Suggested Antigen Peptide Sequences for RCC1 Gene

Graphical View of Domain Structure for InterPro Entry

P18754

UniProtKB/Swiss-Prot:

RCC1_HUMAN :
  • Contains 7 RCC1 repeats.
Similarity:
  • Contains 7 RCC1 repeats.
genes like me logo Genes that share domains with RCC1: view

No data available for Gene Families for RCC1 Gene

Function for RCC1 Gene

Molecular function for RCC1 Gene

UniProtKB/Swiss-Prot Function:
Guanine-nucleotide releasing factor that promotes the exchange of Ran-bound GDP by GTP. Involved in the regulation of onset of chromosome condensation in the S phase. Binds both to the nucleosomes and double-stranded DNA. RCC1-Ran complex (together with other proteins) acts as a component of a signal transmission pathway that detects unreplicated DNA. Plays a key role in nucleo-cytoplasmic transport, mitosis and nuclear-envelope assembly.

Gene Ontology (GO) - Molecular Function for RCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IDA 2677018
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005087 Ran guanyl-nucleotide exchange factor activity IDA,TAS --
GO:0005515 protein binding IPI 1961752
genes like me logo Genes that share ontologies with RCC1: view
genes like me logo Genes that share phenotypes with RCC1: view

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RCC1 Gene

Localization for RCC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RCC1 Gene

Nucleus. Cytoplasm. Note=Becomes dispersed throughout the cytoplasm during mitosis.

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 RCC1 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2
golgi apparatus 1
endosome 1

Gene Ontology (GO) - Cellular Components for RCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 15014043
GO:0000794 condensed nuclear chromosome IDA 15014043
GO:0005634 nucleus IEA,IDA 17435751
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IEA,IDA 17435751
genes like me logo Genes that share ontologies with RCC1: view

Pathways & Interactions for RCC1 Gene

genes like me logo Genes that share pathways with RCC1: view

Pathways by source for RCC1 Gene

2 Cell Signaling Technology pathways for RCC1 Gene
1 BioSystems pathway for RCC1 Gene
1 GeneGo (Thomson Reuters) pathway for RCC1 Gene
2 Qiagen pathways for RCC1 Gene

Gene Ontology (GO) - Biological Process for RCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle IMP 3678831
GO:0007049 cell cycle IEA --
GO:0007052 mitotic spindle organization IDA 15014043
GO:0007059 chromosome segregation IMP 17435751
GO:0007067 mitotic nuclear division IEA --
genes like me logo Genes that share ontologies with RCC1: view

No data available for SIGNOR curated interactions for RCC1 Gene

Drugs & Compounds for RCC1 Gene

(1) Drugs for RCC1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(2) Additional Compounds for RCC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RCC1: view

Transcripts for RCC1 Gene

Unigene Clusters for RCC1 Gene

Regulator of chromosome condensation 1:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RCC1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15 ^ 16a ·
SP1: - - -
SP2: - - - - -
SP3: - - -
SP4: - -
SP5: - - -
SP6: -
SP7: -
SP8:
SP9: - -
SP10: -

ExUns: 16b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for RCC1 Gene

GeneLoc Exon Structure for
RCC1
ECgene alternative splicing isoforms for
RCC1

Expression for RCC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RCC1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RCC1 Gene



Protein tissue co-expression partners for RCC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RCC1 Gene:

RCC1

SOURCE GeneReport for Unigene cluster for RCC1 Gene:

Hs.469723
genes like me logo Genes that share expression patterns with RCC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RCC1 Gene

Orthologs for RCC1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RCC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RCC1 34 35
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia RCC1 34 35
  • 91.77 (n)
cow
(Bos Taurus)
Mammalia RCC1 34 35
  • 90.89 (n)
rat
(Rattus norvegicus)
Mammalia Rcc1 34
  • 89.31 (n)
mouse
(Mus musculus)
Mammalia Rcc1 34 16 35
  • 89.15 (n)
oppossum
(Monodelphis domestica)
Mammalia RCC1 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RCC1 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves RCC1 34 35
  • 75.38 (n)
lizard
(Anolis carolinensis)
Reptilia RCC1 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rcc1 34
  • 68.27 (n)
zebrafish
(Danio rerio)
Actinopterygii rcc1 34 35
  • 70.26 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5005 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003742 34
  • 52.83 (n)
fruit fly
(Drosophila melanogaster)
Insecta Bj1 34 35
  • 50.85 (n)
worm
(Caenorhabditis elegans)
Secernentea ran-3 34 35
  • 44.6 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL045C 34
  • 44.79 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SRM1 34 35 37
  • 43.32 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06600g 34
  • 40.97 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU05513 34
  • 47.16 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pim1 34
  • 43.72 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2815 35
  • 42 (a)
OneToOne
Species where no ortholog for RCC1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)

Evolution for RCC1 Gene

ENSEMBL:
Gene Tree for RCC1 (if available)
TreeFam:
Gene Tree for RCC1 (if available)

Paralogs for RCC1 Gene

Paralogs for RCC1 Gene

(2) SIMAP similar genes for RCC1 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for RCC1 Gene

genes like me logo Genes that share paralogs with RCC1: view

Variants for RCC1 Gene

Sequence variations from dbSNP and Humsavar for RCC1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1051376 -- 28,509,096(+) ccacg(C/G)ccagc intron-variant, nc-transcript-variant, downstream-variant-500B
rs10799123 -- 28,537,608(+) GAGCA(A/G)CCTTT intron-variant
rs10915206 -- 28,522,076(+) CCCCA(G/T)GGGCT intron-variant
rs10915210 -- 28,528,450(+) actcc(A/G)tttca intron-variant
rs111328988 -- 28,509,132(+) CTGTT(C/G/T)TGCAG intron-variant, nc-transcript-variant, downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for RCC1 Gene

Variant ID Type Subtype PubMed ID
nsv947421 CNV duplication 23825009
nsv945856 CNV duplication 23825009
nsv545919 CNV loss 21841781
nsv545916 CNV gain 21841781
nsv480107 CNV novel sequence insertion 20440878
nsv479597 CNV novel sequence insertion 20440878
nsv479542 CNV novel sequence insertion 20440878
nsv1137744 CNV deletion 24896259
esv3585587 CNV gain 21293372
esv3585585 CNV loss 21293372
esv3559994 CNV deletion 23714750
esv2657760 CNV deletion 23128226

Variation tolerance for RCC1 Gene

Residual Variation Intolerance Score: 14.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.28; 25.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RCC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RCC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RCC1 Gene

Disorders for RCC1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for RCC1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
renal-hepatic-pancreatic dysplasia
  • ivemark's syndrome
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search RCC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for RCC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RCC1
genes like me logo Genes that share disorders with RCC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RCC1 Gene

Publications for RCC1 Gene

  1. Catalysis of guanine nucleotide exchange on Ran by the mitotic regulator RCC1. (PMID: 1944575) Bischoff F.R. … Ponstingl H. (Nature 1991) 3 4 22 64
  2. NRMT is an alpha-N-methyltransferase that methylates RCC1 and retinoblastoma protein. (PMID: 20668449) Tooley C.E. … Macara I.G. (Nature 2010) 3 4 64
  3. Regulation of chromatin binding by a conformational switch in the tail of the Ran exchange factor RCC1. (PMID: 18762580) Hao Y. … Macara I.G. (J. Cell Biol. 2008) 3 4 64
  4. Proteomics identification of nuclear Ran GTPase as an inhibitor of human VRK1 and VRK2 (vaccinia-related kinase) activities. (PMID: 18617507) Sanz-Garcia M. … Lazo P.A. (Mol. Cell. Proteomics 2008) 3 22 64
  5. Perturbation of the chromosomal binding of RCC1, Mad2 and survivin causes spindle assembly defects and mitotic catastrophe. (PMID: 18712773) Ho C.-Y. … Li H.-Y. (J. Cell. Biochem. 2008) 3 22 64

Products for RCC1 Gene

Sources for RCC1 Gene

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