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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 Raynaud Disease and Renal-Hepatic-Pancreatic Dysplasia. Among its related pathways are Cytoskeletal Signaling and Validated targets of C-MYC transcriptional activation. Gene Ontology (GO) annotations related to this gene include chromatin binding and nucleosomal DNA binding. An important paralog of this gene is RPGR.

UniProtKB/Swiss-Prot for RCC1 Gene

  • Guanine-nucleotide releasing factor that promotes the exchange of Ran-bound GDP by GTP, and thereby plays an important role in RAN-mediated functions in nuclear import and mitosis (PubMed:1944575, PubMed:17435751, PubMed:20668449, PubMed:22215983, PubMed:11336674). Contributes to the generation of high levels of chromosome-associated, GTP-bound RAN, which is important for mitotic spindle assembly and normal progress through mitosis (PubMed:12194828, PubMed:17435751, PubMed:22215983). Via its role in maintaining high levels of GTP-bound RAN in the nucleus, contributes to the release of cargo proteins from importins after nuclear import (PubMed:22215983). Involved in the regulation of onset of chromosome condensation in the S phase (PubMed:3678831). Binds both to the nucleosomes and double-stranded DNA (PubMed:17435751, PubMed:18762580).

Gene Wiki entry for RCC1 Gene

Additional gene information for RCC1 Gene

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

Genomics for RCC1 Gene

GeneHancer (GH) Regulatory Elements for RCC1 Gene

Promoters and enhancers for RCC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J028504 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 671.7 +2.3 2266 6.6 CLOCK MLX YBX1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 SNORA73B RCC1 SNORA73A GMEB1 SRSF4 TRNAU1AP PHACTR4 SNHG12 YTHDF2 SNHG3
GH01J028516 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 660.4 +12.8 12840 4.1 HDGF HNRNPUL1 PKNOX1 SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A RCC1 GMEB1 SRSF4 TRNAU1AP SNHG12 PHACTR4 YTHDF2 EYA3 ENSG00000237934 ENSG00000231344
GH01J028881 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 49.1 +379.3 379299 6.8 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 EPB41 LOC105376898 SRSF4 GMEB1 TRNAU1AP SNHG12 YTHDF2 PHACTR4 EYA3 RCC1
GH01J029236 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 29.1 +732.8 732771 5.1 HDGF FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF207 ZNF143 DEK PTPRU SRSF4 GMEB1 YTHDF2 SNHG12 TRNAU1AP PHACTR4 TMEM200B RCC1 ENSG00000237934
GH01J028086 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 31.2 -417.9 -417870 2.7 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 EYA3 GC01M028089 GC01M028088 YTHDF2 GMEB1 SNHG12 RCC1 TRNAU1AP ACTG1P20 SNORA73B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RCC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RCC1 gene promoter:
  • Nkx5-1
  • NF-kappaB1

Genomic Locations for RCC1 Gene

Genomic Locations for RCC1 Gene
chr1:28,505,943-28,539,300
(GRCh38/hg38)
Size:
33,358 bases
Orientation:
Plus strand
chr1:28,832,455-28,865,812
(GRCh37/hg19)
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 RAN (PubMed:17435751, PubMed:18762580, PubMed:29040603, PubMed:11336674). Interacts (via N-terminus and RCC1 repeats) with KPNA4 (PubMed:29042532). Interacts with ARRB2; the interaction is detected in the nucleus upon OR1D2 stimulation (PubMed:16820410).
    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 Lys335 and Lys161
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RCC1 Gene

Domains & Families for RCC1 Gene

Gene Families for RCC1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for RCC1 Gene

Suggested Antigen Peptide Sequences for RCC1 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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, and thereby plays an important role in RAN-mediated functions in nuclear import and mitosis (PubMed:1944575, PubMed:17435751, PubMed:20668449, PubMed:22215983, PubMed:11336674). Contributes to the generation of high levels of chromosome-associated, GTP-bound RAN, which is important for mitotic spindle assembly and normal progress through mitosis (PubMed:12194828, PubMed:17435751, PubMed:22215983). Via its role in maintaining high levels of GTP-bound RAN in the nucleus, contributes to the release of cargo proteins from importins after nuclear import (PubMed:22215983). Involved in the regulation of onset of chromosome condensation in the S phase (PubMed:3678831). Binds both to the nucleosomes and double-stranded DNA (PubMed:17435751, PubMed:18762580).

Phenotypes From GWAS Catalog for RCC1 Gene

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 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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RCC1

Clone Products

  • Addgene plasmids for RCC1

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. Chromosome. Cytoplasm. Note=Predominantly nuclear in interphase cells (PubMed:12194828). Binds to mitotic chromosomes (PubMed:12194828, PubMed:17435751, PubMed:20668449). {ECO:0000269 PubMed:12194828, ECO:0000269 PubMed:17435751, ECO:0000269 PubMed:20668449}.

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
cytoskeleton 2
cytosol 2
golgi apparatus 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA 12121620
GO:0000790 nuclear chromatin IDA 15014043
GO:0000794 condensed nuclear chromosome IDA 15014043
GO:0005634 nucleus IEA,IDA 17435751
GO:0005654 nucleoplasm TAS --
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 Qiagen pathways for RCC1 Gene
2 Cell Signaling Technology 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:0007088 regulation of mitotic nuclear division IDA 15014043
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

mRNA/cDNA for RCC1 Gene

Unigene Clusters for RCC1 Gene

Regulator of chromosome condensation 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RCC1

Clone Products

  • Addgene plasmids for RCC1

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 CGAP SAGE for RCC1 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, 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

Evidence on tissue expression from TISSUES for RCC1 Gene

  • Nervous system(4.6)
  • Eye(4.4)
  • Liver(4.4)
  • Muscle(4.1)
genes like me logo Genes that share expression patterns with RCC1: view

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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RCC1 34 33
  • 91.77 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RCC1 34 33
  • 90.89 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rcc1 33
  • 89.31 (n)
mouse
(Mus musculus)
Mammalia Rcc1 16 34 33
  • 89.15 (n)
oppossum
(Monodelphis domestica)
Mammalia RCC1 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RCC1 34
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves RCC1 34 33
  • 75.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RCC1 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rcc1 33
  • 68.27 (n)
zebrafish
(Danio rerio)
Actinopterygii rcc1 34 33
  • 70.26 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5005 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003742 33
  • 52.83 (n)
fruit fly
(Drosophila melanogaster)
Insecta Bj1 34 33
  • 50.85 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ran-3 34 33
  • 44.6 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFL045C 33
  • 44.79 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SRM1 36 34 33
  • 43.32 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F06600g 33
  • 40.97 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU05513 33
  • 47.16 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pim1 33
  • 43.72 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2815 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RCC1: view image

Paralogs for RCC1 Gene

Paralogs for RCC1 Gene

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

  • RCC1_HUMAN
  • C9J3R0_HUMAN
  • C9JMJ4_HUMAN
  • C9JQZ4_HUMAN
  • C9JRH2_HUMAN
  • C9JW69_HUMAN
  • M0R1Q8_HUMAN
  • Q5T081_HUMAN

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 Variation AA Info Type
rs1000045900 -- 28,512,974(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000175115 -- 28,510,822(+) T/C/G genic_upstream_transcript_variant, intron_variant
rs1000178726 -- 28,518,270(+) G/C 5_prime_UTR_variant, intron_variant
rs1000227428 -- 28,510,489(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000336370 -- 28,517,147(+) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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

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

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)

Additional Variant Information for RCC1 Gene

Human Gene Mutation Database (HGMD)
RCC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RCC1

SNP Genotyping and Copy Number Assay Products

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

Disorders for RCC1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RCC1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
raynaud disease
  • cold fingers, hereditary
renal-hepatic-pancreatic dysplasia
  • ivemark's syndrome
retinitis pigmentosa 3
  • rp3
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

Additional Disease Information for 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 FR … Ponstingl H (Nature 1991) 3 4 22 58
  2. Mitosis-specific acetylation tunes Ran effector binding for chromosome segregation. (PMID: 29040603) Bao X … Shi Y (Journal of molecular cell biology 2018) 3 4 58
  3. Three-dimensional context rather than NLS amino acid sequence determines importin α subtype specificity for RCC1. (PMID: 29042532) Sankhala RS … Cingolani G (Nature communications 2017) 3 4 58
  4. Mitotic spindle assembly around RCC1-coated beads in Xenopus egg extracts. (PMID: 22215983) Halpin D … Heald R (PLoS biology 2011) 3 4 58
  5. NRMT is an alpha-N-methyltransferase that methylates RCC1 and retinoblastoma protein. (PMID: 20668449) Tooley CE … Macara IG (Nature 2010) 3 4 58

Products for RCC1 Gene

Sources for RCC1 Gene

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