Gene Gene information from NCBI Gene database.
Entrez ID 91687
Gene name Centromere protein L
Gene symbol CENPL
Synonyms (NCBI Gene)
C1orf155CENP-LdJ383J4.3
Chromosome 1
Chromosome location 1q25.1
Summary CENPL is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006) [PubMed 16622420].[sup
miRNA miRNA information provided by mirtarbase database.
227
miRTarBase ID miRNA Experiments Reference
MIRT693632 hsa-miR-10a-5p HITS-CLIP 23313552
MIRT693631 hsa-miR-10b-5p HITS-CLIP 23313552
MIRT693630 hsa-miR-508-5p HITS-CLIP 23313552
MIRT693629 hsa-miR-8063 HITS-CLIP 23313552
MIRT693628 hsa-miR-4698 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000939 Component Inner kinetochore IPI 36085283
GO:0005515 Function Protein binding IPI 25416956
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus NAS 36085283
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611503 17879 ENSG00000120334
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N0S6
Protein name Centromere protein L (CENP-L) (Interphase centromere complex protein 33)
Protein function Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesiz
PDB 7PKN , 7QOO , 7R5S , 7R5V , 7XHN , 7XHO , 7YWX , 7YYH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13092 CENP-L 177 324 Kinetochore complex Sim4 subunit Fta1 Family
Sequence
MDSYSAPESTPSASSRPEDYFIGATPLQKRLESVRKQSSFILTPPRRKIPQCSQLQEDVD
PQKVAFLLHKQWTLYSLTPLYKFSYSNLKEYSRLLNAFIVAEKQKGLAVEVGEDFNIKVI
FSTLLGMKGTQRDPEAFLVQIVSKSQLPSENREGKVLWTGWFCCVFGDSLLETVSEDFTC
LPLFLANGAESNTAIIGTWFQKTFDCYFSPLAINAFNLSWMAAMWTACKMDHYVATTEFL
WSVPCSPQSLDISFAIHPEDAKALWDSVHKTPGEVTQEEVDLFMDCLYSHFHRHFKIHLS
ATRLVRVSTSVASAHTDGKIKILC
HKYLIGVLAYLTELAIFQIE
Sequence length 344
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases Activate Formins
Deposition of new CENPA-containing nucleosomes at the centromere
Mitotic Prometaphase
EML4 and NUDC in mitotic spindle formation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
Adrenocortical carcinoma, hereditary Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION GWAS catalog
★★☆☆☆
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
Breast Neoplasms Breast neoplasm Pubtator 34341433 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34457090, 34607313, 36572856, 37914022 Associate
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic neoplasm Pubtator 36572856 Stimulate
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophageal neoplasm Pubtator 36572856 Stimulate
★☆☆☆☆
Found in Text Mining only
Growth Disorders Growth disorder Pubtator 21548129 Associate
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Pancreatic neoplasm Pubtator 36572856 Stimulate
★☆☆☆☆
Found in Text Mining only
Seckel syndrome 1 Seckel syndrome Pubtator 21548129 Associate
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 36572856 Stimulate
★☆☆☆☆
Found in Text Mining only