Gene Gene information from NCBI Gene database.
Entrez ID 28985
Gene name MCTS1 re-initiation and release factor
Gene symbol MCTS1
Synonyms (NCBI Gene)
IMD118MCT-1MCT1
Chromosome X
Chromosome location Xq24
miRNA miRNA information provided by mirtarbase database.
1228
miRTarBase ID miRNA Experiments Reference
MIRT039499 hsa-miR-652-3p CLASH 23622248
MIRT607426 hsa-miR-8485 HITS-CLIP 23313552
MIRT607422 hsa-miR-4789-3p HITS-CLIP 23313552
MIRT670311 hsa-miR-7159-5p HITS-CLIP 23313552
MIRT684399 hsa-miR-3667-5p HITS-CLIP 23313552
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SP1 Unknown 12938157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0000339 Function RNA cap binding IDA 16982740
GO:0001731 Process Formation of translation preinitiation complex IBA
GO:0001731 Process Formation of translation preinitiation complex IDA 20713520
GO:0002188 Process Translation reinitiation IEA
GO:0002188 Process Translation reinitiation IMP 37875108
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300587 23357 ENSG00000232119
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9ULC4
Protein name Malignant T-cell-amplified sequence 1 (MCT-1) (Multiple copies T-cell malignancies)
Protein function Translation regulator forming a complex with DENR to promote translation reinitiation. Translation reinitiation is the process where the small ribosomal subunit remains attached to the mRNA following termination of translation of a regulatory up
PDB 3R90 , 5ONS , 5VYC , 6MS4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17832 Pre-PUA 5 89 Pre-PUA-like domain Domain
PF01472 PUA 93 170 PUA domain Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Over-expressed in T-cell lymphoid cell lines and in non-Hodgkin lymphoma cell lines as well as in a subset of primary large B-cell lymphomas. {ECO:0000269|PubMed:9766643}.
Sequence
Sequence length 181
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Immunodeficiency 118 Pathogenic rs2521290612, rs2521290553, rs2521289319 RCV003493362
RCV003493363
RCV003493364
★★★★☆
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
Thyroid cancer, nonmedullary, 1 Likely 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
Adenocarcinoma Adenocarcinoma BEFREE 26539827, 26563366, 28206968
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 28206968
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 31040927
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26539827
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 19789340, 29534146, 30790227
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 26765963, 30355947
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 17957103
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 28623304
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 28623304 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 25263481, 27373212, 30026847
★☆☆☆☆
Found in Text Mining only