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CEP89 (centrosomal protein 89)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84902
Gene nameGene Name - the full gene name approved by the HGNC.
Centrosomal protein 89
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CEP89
SynonymsGene synonyms aliases
CCDC123, CEP123
ChromosomeChromosome number
19
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.11
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT626494 hsa-miR-7705 HITS-CLIP 23824327
MIRT626491 hsa-miR-103b HITS-CLIP 23824327
MIRT626488 hsa-miR-6499-3p HITS-CLIP 23824327
MIRT637695 hsa-miR-3135b HITS-CLIP 23824327
MIRT637694 hsa-miR-504-3p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IDA 21399614
GO:0005515 Function Protein binding IPI 23789104
GO:0005758 Component Mitochondrial intermembrane space IEA
GO:0005813 Component Centrosome IDA 21399614
GO:0005814 Component Centriole IDA 23348840
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q96ST8
Protein name Centrosomal protein of 89 kDa (Cep89) (Centrosomal protein 123) (Cep123) (Coiled-coil domain-containing protein 123)
Protein function Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity.
Family and domains
Sequence
MLLGFRRGRRSHFKHIIHGLLPAASVAPKAAVPRTPPPRSPNPSPERPRSALAAAILATT
LTGRTVAIPQPRQRSRSESDVSSVEQDSFIEPYATTSQLRPRPNWQSEMGRRSSLPSFET
LDYGDEEDIETQLSSSGKELGDVSAREDRGGHSDDLYAVPHRNQVPLLHEVNSEDDENIS
HQDGFPGSPPAPQRTQQKDGKHPVLNLKDEKPPLCEKPPPSPDITGRARQRYTEITREKF
EALKEENMDLNNMNQSLTLELNTMKQAMKELQLKLKGMEKEKRKLKEAEKASSQEVAAPE
LLYLRKQAQELVDENDGLKMTVHRLNVELSRYQTKFRHLSKEESLNIEGLPSKGPIPPWL
LDIKYLSPLLLAYEDMMKEKDELNATLKEEMRMFRMRVQEVVKENEELHQELNKSSAVTS
EEWRQLQTQAKLVLEENKLLLEQLEIQQRKAKDSHQERLQEVSKLTKQLMLLEAKTHGQE
KELAENREQLEILRAKCQELKTHSDGKIAVEVHKSIVNELKSQLQKEEEKERAEMEELME
KLTVLQAQKKSLLLEKNSLTEQNKALEAELERAQKINRKSQKKIEVLKKQVEKAMGNEMS
AHQYLANLVGLAENITQERDSLMCLAKCLESEKDGVLNKVIKSNIRLGKLEEKVKGYKKQ
AALKLGDISHRLLEQQEDFAGKTAQYRQEMRHLHQVLKDKQEVLDQALQQNREMEGELEV
IWESTFRENRRIRELLQDTLTRTGVQDNPRALVAPSLNGVSQADLLDGCDVCSYDLKSHA
PTC
Sequence length 783
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Anchoring of the basal body to the plasma membrane
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Rheumatoid arthritis Rheumatoid Arthritis rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212 21452313

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