RCC1
entrez
1104
canonical
uniprot
P18754
canonical
ensembl
ENSG00000180198
resolver
ensp
ENSP00000362937
resolver
ensp
ENSP00000362938
resolver
ensp
ENSP00000362939
resolver
ensp
ENSP00000381931
resolver
ensp
ENSP00000508074
resolver
ensp
ENSP00000599801
resolver
genesymbol
RCC1
resolver
genesymbol_syn
CHC1
resolver
hgnc
HGNC:1913
resolver
uniprot
A0A0S2Z3I4
resolver
uniprot
A0A0S2Z3J1
resolver
uniprot
A0A0S2Z404
resolver
uniprot
Q16269
resolver
uniprot
Q5T081
resolver
uniprot
Q6NT97
resolver
uniprot_entry
A0A0S2Z3I4_HUMAN
resolver
uniprot_entry
A0A0S2Z404_HUMAN
resolver
uniprot_entry
Q5T081_HUMAN
resolver
uniprot_entry
RCC1_HUMAN
resolver
uniprot_sec
A0A0S2Z3J1
resolver
uniprot_sec
Q16269
resolver
uniprot_sec
Q6NT97
resolver
amino_acid_sequence
MSPKRIAKRRSPPADAIPKSKKVKVSHRSHSTEPGLVLTLGQGDVGQLGLGENVMERKKPALVSIPEDVVQAEAGGMHTVCLSKSGQVYSFGCNDEGALGRDTSVEGSEMVPGKVELQEKVVQVSAGDSHTAALTDDGRVFLWGSFRDNNGVIGLLEPMKKSMVPVQVQLDVPVVKVASGNDHLVMLTADGDLYTLGCGEQGQLGRVPELFANRGGRQGLERLLVPKCVMLKSRGSRGHVRFQDAFCGAYFTFAISHEGHVYGFGLSNYHQLGTPGTESCFIPQNLTSFKNSTKSWVGFSGGQHHTVCMDSEGKAYSLGRAEYGRLGLGEGAEEKSIPTLISRLPAVSSVACGASVGYAVTKDGRVFAWGMGTNYQLGTGQDEDAWSPVEMMGKQLENRVVLSVSSGGQHTVLLVKDKEQS
uniprot
proteins
disease_involvement
DISEASE: Infection-induced acute-onset axonal neuropathy (IIAAN) [MIM:621333]: An autosomal recessive disease characterized by the acute onset of axonal neuropathy following infection or febrile illness in infancy or early childhood. Affected individuals present with muscle weakness and reduced reflexes primarily in the lower limbs, although weakness can become more widespread and affect respiratory muscles causing respiratory insufficiency. Progressive cerebral and cerebellar atrophy is seen on brain imaging. The disorder often follows a progressive course, leading to loss of ambulation and the need for long-term ventilatory support. Early death may occur. {ECO:0000269|PubMed:40683276}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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:11336674, PubMed:17435751, PubMed:1944575, PubMed:20668449, PubMed:22215983, PubMed:29042532). 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). {ECO:0000269|PubMed:11336674, ECO:0000269|PubMed:12194828, ECO:0000269|PubMed:17435751, ECO:0000269|PubMed:18762580, ECO:0000269|PubMed:1944575, ECO:0000269|PubMed:20668449, ECO:0000269|PubMed:22215983, ECO:0000269|PubMed:29042532, ECO:0000269|PubMed:3678831}.
uniprot
proteins
mass_dalton
44969
uniprot
proteins
mutagenesis
MUTAGEN 2; /note="S->A: Does not abolish N-terminal methylation."; /evidence="ECO:0000269|PubMed:17435751"; MUTAGEN 2; /note="S->Q: Does not abolish N-terminal methylation."; /evidence="ECO:0000269|PubMed:17435751"; MUTAGEN 3; /note="P->Q: Abolishes N-terminal methylation."; /evidence="ECO:0000269|PubMed:17435751"; MUTAGEN 4; /note="K->Q: Abolishes N-terminal methylation."; /evidence="ECO:0000269|PubMed:17435751, ECO:0000269|PubMed:20668449"; MUTAGEN 4; /note="K->R: Strongly impairs N-terminal methylation and subcellular localization."; /evidence="ECO:0000269|PubMed:17435751, ECO:0000269|PubMed:20668449"; MUTAGEN 9; /note="R->A: Decreases KPNA4 binding. Strongly decreases KPNA4 binding; when associated with A-21."; /evidence="ECO:0000269|PubMed:29042532"; MUTAGEN 11; /note="S->E: Phosphomimetic mutant. Decreases KPNA4 binding by about 10%."; /evidence="ECO:0000269|PubMed:29042532"; MUTAGEN 21; /note="K->A: Decreases KPNA4 binding. Strongly decreases KPNA4 binding; when associated with A-9."; /evidence="ECO:0000269|PubMed:29042532"; MUTAGEN 182; /note="D->A: Abolishes interaction with Ran and impairs chromosome localization."; /evidence="ECO:0000269|PubMed:12194828, ECO:0000269|PubMed:17435751
uniprot
proteins
post_translational_modification
PTM: 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. {ECO:0000269|PubMed:17435751, ECO:0000269|PubMed:18762580, ECO:0000269|PubMed:20668449}.
uniprot
proteins
pubmed
11336674
uniprot
proteins
pubmed
12194828
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16820410
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17435751
uniprot
proteins
pubmed
1769659
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18762580
uniprot
proteins
pubmed
1944575
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20668449
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22215983
uniprot
proteins
pubmed
2236072
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
29040603
uniprot
proteins
pubmed
29042532
uniprot
proteins
pubmed
34564892
uniprot
proteins
pubmed
3678831
uniprot
proteins
pubmed
40683276
uniprot
proteins
pubmed
7983178
uniprot
proteins
pubmed
9510255
uniprot
proteins
sequence_length
421
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12194828, ECO:0000269|PubMed:16820410, ECO:0000269|PubMed:17435751, ECO:0000269|PubMed:2236072}. Chromosome {ECO:0000269|PubMed:12194828, ECO:0000269|PubMed:17435751, ECO:0000269|PubMed:18762580, ECO:0000269|PubMed:20668449}. Cytoplasm {ECO:0000269|PubMed:12194828, ECO:0000269|PubMed:17435751, ECO:0000269|PubMed:20668449}. 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}.
uniprot
proteins