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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
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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

Gene LinkOut

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

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