LTO1 (LTO1 maturation factor of ABCE1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 220064
Gene name LTO1 maturation factor of ABCE1
Gene symbol LTO1
Synonyms (NCBI Gene)
CIAB1ORAOV1TAOS1
Chromosome 11
Chromosome location 11q13.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (7)
GO ID Ontology Definition Evidence Reference
GO:0000723 Process Telomere maintenance IBA
GO:0005515 Function Protein binding IPI 24930674, 32296183
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus ISS
GO:0006413 Process Translational initiation IMP 23318452
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607224 17589 ENSG00000149716
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WV07
Protein name Protein LTO1 homolog (Oral cancer-overexpressed protein 1) (Tumor-amplified and overexpressed sequence 1)
Protein function The complex LTO1:YAE1 functions as a target specific adapter that probably recruits apo-ABCE1 to the cytosolic iron-sulfur protein assembly (CIA) complex machinery (PubMed:26182403). May be required for biogenesis of the large ribosomal subunit
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09811 Yae1_N 22 → 60 Essential protein Yae1, N terminal Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highly expressed in placenta, kidney and skeletal muscle. {ECO:0000269|PubMed:12172009, ECO:0000269|PubMed:24930674}.
Sequence 
MAGSQDIFDAIVMADERFHGEGYREGYEEGSSLGVMEGRQHGTLHGAKIGSEIGCYQGFA
FAWKCLLHSCTTEKDSRKMKVLESLIGMIQKFPYDDPTYDKLHEDLDKIRGKFKQFCSLL
NVQPDFKISAEGSGLSF
Sequence length 137
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (4)
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
GOUT — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (27)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Lobular Lobular carcinoma Pubtator 27078887 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 20105337, 37930255 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 20105337
★★★★★
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 20105337
★★★★★
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 16827140, 34962019 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Esophagitis Esotropia Pubtator 16827140 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Gastric Adenocarcinoma Gastric Cancer BEFREE 21993861
★★★★★
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory Bowel Disease BEFREE 28769911
★★★★★
★☆☆☆☆
Found in Text Mining only
Irritable Bowel Syndrome Irritable Bowel Syndrome BEFREE 28769911
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukoplakia Leukoplakia BEFREE 17005439
★★★★★
★☆☆☆☆
Found in Text Mining only