Gene Gene information from NCBI Gene database.
Entrez ID 10438
Gene name C1D nuclear receptor corepressor
Gene symbol C1D
Synonyms (NCBI Gene)
LRP1Rrp47SUN-CoRSUNCORhC1D
Chromosome 2
Chromosome location 2p14
Summary The protein encoded by this gene is a DNA binding and apoptosis-inducing protein and is localized in the nucleus. It is also a Rac3-interacting protein which acts as a corepressor for the thyroid hormone receptor. This protein is thought to regulate TRAX/
miRNA miRNA information provided by mirtarbase database.
215
miRTarBase ID miRNA Experiments Reference
MIRT005157 hsa-miR-30a-5p pSILAC 18668040
MIRT004148 hsa-miR-192-5p Microarray 16822819
MIRT024488 hsa-miR-215-5p Microarray 19074876
MIRT004148 hsa-miR-192-5p Microarray 19074876
MIRT005157 hsa-miR-30a-5p Proteomics;Other 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000176 Component Nuclear exosome (RNase complex) TAS 17412707
GO:0000178 Component Exosome (RNase complex) IBA
GO:0000460 Process Maturation of 5.8S rRNA IBA
GO:0000460 Process Maturation of 5.8S rRNA IMP 17412707
GO:0003677 Function DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606997 29911 ENSG00000197223
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13901
Protein name Nuclear nucleic acid-binding protein C1D (hC1D)
Protein function Plays a role in the recruitment of the RNA exosome complex to pre-rRNA to mediate the 3'-5' end processing of the 5.8S rRNA; this function may include MPHOSPH6. Can activate PRKDC not only in the presence of linear DNA but also in the presence o
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04000 Sas10_Utp3 17 96 Sas10/Utp3/C1D family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Expressed at very high levels in the hippocampus, medulla oblongata, mammary gland, thyroid and salivary gland. Expressed at high levels in the fetal; lung, liver and kidney. Expressed at low levels in skeletal muscle, appe
Sequence
MAGEEINEDYPVEIHEYLSAFENSIGAVDEMLKTMMSVSRNELLQKLDPLEQAKVDLVSA
YTLNSMFWVYLATQGVNPKEHPVKQELERIRVYMNR
VKEITDKKKAGKLDRGAASRFVKN
ALWEPKSKNASKVANKGKSKS
Sequence length 141
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  RNA degradation   Major pathway of rRNA processing in the nucleolus and cytosol
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
Colon adenocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL SQUAMOUS CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Benign ClinVar
★★☆☆☆
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
Abdominal Migraine Abdominal Migraine CTD_human_DG 21666692
★☆☆☆☆
Found in Text Mining only
Acute Confusional Migraine Confusional Migraine CTD_human_DG 21666692
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 31057022
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 22664042
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 15543372, 19672972, 22037714, 31073076
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 11986944, 21114538
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 29507659
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 30510241, 31089142
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 21325077
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma GWASCAT_DG 29924316
★☆☆☆☆
Found in Text Mining only