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    RCC1 regulator of chromosome condensation 1 [ Homo sapiens (human) ]

    Gene ID: 1104, updated on 3-Nov-2024

    Summary

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    Official Symbol
    RCC1provided by HGNC
    Official Full Name
    regulator of chromosome condensation 1provided by HGNC
    Primary source
    HGNC:HGNC:1913
    See related
    Ensembl:ENSG00000180198 MIM:179710; AllianceGenome:HGNC:1913
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CHC1; RCC1-I
    Summary
    Enables several functions, including guanyl-nucleotide exchange factor activity; nucleosomal DNA binding activity; and protein heterodimerization activity. Involved in G1/S transition of mitotic cell cycle; regulation of mitotic nuclear division; and spindle organization. Located in chromatin; cytoplasm; and nuclear lumen. Part of protein-containing complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 13.1), lymph node (RPKM 11.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RCC1 in Genome Data Viewer
    Location:
    1p35.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (28506043..28538989)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (28347999..28380949)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (28832555..28865501)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:28655585-28656092 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28656093-28656600 Neighboring gene mediator complex subunit 18 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28695423-28696378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 538 Neighboring gene phosphatase and actin regulator 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:28726665-28726882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 596 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 539 Neighboring gene Sharpr-MPRA regulatory region 2241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 540 Neighboring gene RNA, U6atac small nuclear 27, pseudogene Neighboring gene Sharpr-MPRA regulatory region 7965 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:28833855-28834620 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28836153-28836918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 598 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28838303-28838871 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 599 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28844515-28845366 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28845367-28846217 Neighboring gene small nucleolar RNA, H/ACA box 73A Neighboring gene small nucleolar RNA, H/ACA box 73B Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:28850571-28851072 Neighboring gene small nucleolar RNA host gene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:28866050-28866550 Neighboring gene peroxiredoxin 3 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 11844 Neighboring gene Sharpr-MPRA regulatory region 11894 Neighboring gene tRNA selenocysteine 1 associated protein 1 Neighboring gene small nucleolar RNA, C/D box 99 Neighboring gene small nucleolar RNA host gene 12

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Complete nucleotide sequence of the human RCC1 gene involved in coupling between DNA replication and mitosis. Furuno N, et al. Genomics, 1991 Oct. PMID 1769659
    2. Epstein-Barr virus nuclear antigen 1 interacts with regulator of chromosome condensation 1 dynamically throughout the cell cycle. Deschamps T, et al. J Gen Virol, 2017 Feb. PMID 28284242
    3. Exome sequencing and case-control analyses identify RCC1 as a candidate breast cancer susceptibility gene. Riahi A, et al. Int J Cancer, 2018 Jun 15. PMID 29363114
    4. RCC1 regulates inner centromeric composition in a Ran-independent fashion. Zhang MS, et al. Cell Cycle, 2018. PMID 29464982, Free PMC Article
    5. Methylation-silencing RCC1 expression is associated with tumorigenesis and depth of invasion in gastric cancer. Lin YL, et al. Int J Clin Exp Pathol, 2015. PMID 26823742, Free PMC Article

    See all (185) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Targeting RCC1 to block the human soft-tissue sarcoma by disrupting nucleo-cytoplasmic trafficking of Skp2.
      Title: Targeting RCC1 to block the human soft-tissue sarcoma by disrupting nucleo-cytoplasmic trafficking of Skp2.
    2. A novel DNA methylation signature revealed GDF6 and RCC1 as potential prognostic biomarkers correlated with cell proliferation in clear cell renal cell carcinoma.
      Title: A novel DNA methylation signature revealed GDF6 and RCC1 as potential prognostic biomarkers correlated with cell proliferation in clear cell renal cell carcinoma.
    3. RCC1 functions as a tumor facilitator in clear cell renal cell carcinoma by dysregulating cell cycle, apoptosis, and EZH2 stability.
      Title: RCC1 functions as a tumor facilitator in clear cell renal cell carcinoma by dysregulating cell cycle, apoptosis, and EZH2 stability.
    4. RCC1 Expression as a Prognostic Marker in Colorectal Liver Oligometastases.
      Title: RCC1 Expression as a Prognostic Marker in Colorectal Liver Oligometastases.
    5. Phosphorylation of RCC1 on Serine 11 Facilitates G1/S Transition in HPV E7-Expressing Cells.
      Title: Phosphorylation of RCC1 on Serine 11 Facilitates G1/S Transition in HPV E7-Expressing Cells.
    6. Down-regulation of RCC1 sensitizes immunotherapy by up-regulating PD-L1 via p27(kip1) /CDK4 axis in non-small cell lung cancer.
      Title: Down-regulation of RCC1 sensitizes immunotherapy by up-regulating PD-L1 via p27(kip1) /CDK4 axis in non-small cell lung cancer.
    7. RanBP1 controls the Ran pathway in mammalian cells through regulation of mitotic RCC1 dynamics.
      Title: RanBP1 controls the Ran pathway in mammalian cells through regulation of mitotic RCC1 dynamics.
    8. PRMT6 methylation of RCC1 regulates mitosis, tumorigenicity, and radiation response of glioblastoma stem cells.
      Title: PRMT6 methylation of RCC1 regulates mitosis, tumorigenicity, and radiation response of glioblastoma stem cells.
    9. cyclin-dependent kinase 1 (Cdk1), a known target of E2F1, is involved in G1 checkpoint regulation, as Cdk1 knockdown hindered G1/S progression, while Cdk1 overexpression rescued RCC1 knockdown-mediated effect on G1 cell cycle progression.
      Title: Regulator of chromatin condensation 1 abrogates the G1 cell cycle checkpoint via Cdk1 in human papillomavirus E7-expressing epithelium and cervical cancer cells.
    10. RCC1 regulates KT composition at the metaphase-anaphase transition in a Ran-GTP independent fashion through displacement of Shugoshin-1 and chromosomal passenger complex.
      Title: RCC1 regulates inner centromeric composition in a Ran-independent fashion.
    Submit: New GeneRIF Correction See all GeneRIFs (35)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human regulator of chromosome condensation 1 (RCC1) at amino acid residues 38-39 by the HIV-1 protease PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough RCC1

    Included gene: SNHG3

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables guanyl-nucleotide exchange factor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
    		  
    enables histone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nucleosomal DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nucleosome binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sulfate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G1/S transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic nuclear membrane reassembly TAS
    Traceable Author Statement
    more info
    		  
    involved_in mitotic spindle organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of mitotic nuclear division IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of mitotic spindle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in viral process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in chromosome TAS
    Traceable Author Statement
    more info
    		  
    located_in condensed nuclear chromosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus HDA PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    regulator of chromosome condensation
    Names
    cell cycle regulatory protein
    guanine nucleotide-releasing protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001048194.4 → NP_001041659.1  regulator of chromosome condensation isoform a

      See identical proteins and their annotated locations for NP_001041659.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AL513497, BC069198, BF590413, X12654
      Consensus CDS
      CCDS41295.1
      UniProtKB/TrEMBL
      A0A0S2Z404, C9JW69
      Related
      ENSP00000362937.3, ENST00000373831.7
      Conserved Domains (1) summary
      pfam00415
      Location:394 → 445
      RCC1; Regulator of chromosome condensation (RCC1) repeat

    2. NM_001048195.4 → NP_001041660.1  regulator of chromosome condensation isoform b

      See identical proteins and their annotated locations for NP_001041660.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AL513497, BF590413, BM546148, BQ436549, X12654
      UniProtKB/TrEMBL
      A0A0S2Z3I4, C9JW69
      Related
      ENSP00000413644.1, ENST00000411533.5
      Conserved Domains (2) summary
      COG5184
      Location:21 → 435
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      pfam00415
      Location:380 → 431
      RCC1; Regulator of chromosome condensation (RCC1) repeat

    3. NM_001048199.3 → NP_001041664.1  regulator of chromosome condensation isoform c

      See identical proteins and their annotated locations for NP_001041664.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a. Both variants 3 and 4 encode the same isoform. This variant is a read-through transcript between the upstream non-coding SNHG3 locus (GeneID:8420) and the downstream RCC1 locus (GeneID:1104).
      Source sequence(s)
      BC007300, BU501614
      UniProtKB/Swiss-Prot
      P18754, Q16269, Q6NT97
      UniProtKB/TrEMBL
      A0A0S2Z3J1, C9JW69, Q5T081
      Related
      ENSP00000381931.2, ENST00000398958.6
      Conserved Domains (1) summary
      COG5184
      Location:4 → 418
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

    4. NM_001269.6 → NP_001260.1  regulator of chromosome condensation isoform c

      See identical proteins and their annotated locations for NP_001260.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a. Both variants 3 and 4 encode the same isoform.
      Source sequence(s)
      AL513497, BF590413, X12654
      UniProtKB/Swiss-Prot
      P18754, Q16269, Q6NT97
      UniProtKB/TrEMBL
      A0A0S2Z3J1, C9JW69, Q5T081
      Related
      ENSP00000362938.1, ENST00000373832.5
      Conserved Domains (1) summary
      COG5184
      Location:4 → 418
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

    5. NM_001381865.2 → NP_001368794.1  regulator of chromosome condensation isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5), as well as variants 3, 4, and 6, encodes isoform c.
      Source sequence(s)
      AL513497
      UniProtKB/Swiss-Prot
      P18754, Q16269, Q6NT97
      UniProtKB/TrEMBL
      A0A0S2Z3J1, C9JW69, Q5T081
      Related
      ENSP00000508074.1, ENST00000683442.1
      Conserved Domains (1) summary
      COG5184
      Location:4 → 418
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

    6. NM_001381866.2 → NP_001368795.1  regulator of chromosome condensation isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6), as well as variants 3-5, encodes isoform c.
      Source sequence(s)
      AL513497
      UniProtKB/Swiss-Prot
      P18754, Q16269, Q6NT97
      UniProtKB/TrEMBL
      A0A0S2Z3J1, C9JW69, Q5T081
      Related
      ENSP00000362939.5, ENST00000373833.10
      Conserved Domains (1) summary
      COG5184
      Location:4 → 418
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      28506043..28538989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      28347999..28380949
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P18754.1 GenPept UniProtKB/Swiss-Prot:P18754

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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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