Gene Gene information from NCBI Gene database.
Entrez ID 91433
Gene name RCC1 domain containing 1
Gene symbol RCCD1
Synonyms (NCBI Gene)
-
Chromosome 15
Chromosome location 15q26.1
miRNA miRNA information provided by mirtarbase database.
269
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617997 30457 ENSG00000166965
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
27
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BILIARY TRACT CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31582214
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28362817
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma CTD_human_DG 29915430
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma of lung Lung carcinoma BEFREE 28455245
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 27432226
★☆☆☆☆
Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome Hereditary breast and ovarian cancer syndrome Pubtator 27432226 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 28362817
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer CTD_human_DG 29915430
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 28455245
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of ovary Ovarian cancer BEFREE 27432226
★☆☆☆☆
Found in Text Mining only