Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
91433
Gene name Gene Name - the full gene name approved by the HGNC.
RCC1 domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RCCD1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q26.1
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT044333 hsa-miR-106b-5p CLASH 23622248
MIRT044333 hsa-miR-106b-5p HITS-CLIP 22473208
MIRT141698 hsa-miR-20a-5p HITS-CLIP 22473208
MIRT044333 hsa-miR-106b-5p HITS-CLIP 22473208
MIRT141697 hsa-miR-17-5p HITS-CLIP 22473208
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 24981860, 33961781
GO:0005694 Component Chromosome IEA
GO:0005829 Component Cytosol IDA
GO:0005829 Component Cytosol TAS
GO:0005886 Component Plasma membrane IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617997 30457 ENSG00000166965
Protein
UniProt ID A6NED2
Protein name RCC1 domain-containing protein 1
Protein function Plays a role in transcriptional repression of satellite repeats, possibly by regulating H3K36 methylation levels in centromeric regions together with KDM8 (PubMed:24981860). Possibly together with KDM8, is involved in proper mitotic spindle orga
PDB 6F4R , 6F4S , 6F4T
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00415 RCC1 176 225 Regulator of chromosome condensation (RCC1) repeat Repeat
PF00415 RCC1 318 369 Regulator of chromosome condensation (RCC1) repeat Repeat
Sequence
MAEERPGAWFGFGFCGFGQELGSGRGRQVHSPSPLRAGVDICRVSASWSYTAFVTRGGRL
ELSGSASGAAGRCKDAWASEGLLAVLRAGPGPEALLQVWAAESALRGEPLWAQNVVPEAE
GEDDPAGEAQAGRLPLLPCARAYVSPRAPFYRPLAPELRARQLELGAEHALLLDAAGQVF
SWGGGRHGQLGHGTLEAELEPRLLEALQGLVMAEVAAGGWHSVCV
SETGDIYIWGWNESG
QLALPTRNLAEDGETVAREATELNEDGSQVKRTGGAEDGAPAPFIAVQPFPALLDLPMGS
DAVKASCGSRHTAVVTRTGELYTWGWGKYGQLGHEDTTSLDRPRRVEYFVDKQLQVKAVT
CGPWNTYVY
AVEKGKS
Sequence length 376
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer N/A N/A GWAS
Diabetes Type 2 diabetes, Type 2 diabetes (PheCode 250.2) N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Hereditary Breast and Ovarian Cancer Syndrome Associate 27432226
Neoplasms Associate 27432226
Ovarian Neoplasms Associate 27432226
Pancreatic Neoplasms Associate 31917448, 32907841