Gene Gene information from NCBI Gene database.
Entrez ID 9859
Gene name Centrosomal protein 170
Gene symbol CEP170
Synonyms (NCBI Gene)
FAM68AKABKIAA0470
Chromosome 1
Chromosome location 1q43
Summary The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centr
miRNA miRNA information provided by mirtarbase database.
405
miRTarBase ID miRNA Experiments Reference
MIRT047355 hsa-miR-34a-5p CLASH 23622248
MIRT045925 hsa-miR-125b-5p CLASH 23622248
MIRT524509 hsa-miR-19b-3p PAR-CLIP 20371350
MIRT524508 hsa-miR-19a-3p PAR-CLIP 20371350
MIRT524507 hsa-miR-130b-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15161933, 22190034, 26496610, 26638075, 28422092, 28514442, 29961565, 30354798, 31413325, 31789463, 33961781, 35271311, 36931259
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IDA 21399614
GO:0005813 Component Centrosome IEA
GO:0005814 Component Centriole IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613023 28920 ENSG00000143702
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5SW79
Protein name Centrosomal protein of 170 kDa (Cep170) (KARP-1-binding protein) (KARP1-binding protein)
Protein function Plays a role in microtubule organization (PubMed:15616186). Required for centriole subdistal appendage assembly (PubMed:28422092).
PDB 4JON
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00498 FHA 23 90 FHA domain Family
PF15308 CEP170_C 809 1506 CEP170 C-terminus Family
Sequence
MSLTSWFLVSSGGTRHRLPREMIFVGRDDCELMLQSRSVDKQHAVINYDASTDEHLVKDL
GSLNGTFVNDVRIPEQTYITLKLEDKLRFG
YDTNLFTVVQGEMRVPEEALKHEKFTIQLQ
LSQKSSESELSKSASAKSIDSKVADAATEVQHKTTEALKSEEKAMDISAMPRGTPLYGQP
SWWGDDEVDEKRAFKTNGKPEEKNHEAGTSGCGIDAKQVEEQSAAANEEVLFPFCREPSY
FEIPTKEFQQPSQITESTIHEIPTKDTPSSHITGAGHASFTIEFDDSTPGKVTIRDHVTK
FTSDQRHKSKKSSPGTQDLLGIQTGMMAPENKVADWLAQNNPPQMLWERTEEDSKSIKSD
VPVYLKRLKGNKHDDGTQSDSENAGAHRRCSKRATLEEHLRRHHSEHKKLQKVQATEKHQ
DQAVTSSAHHRGGHGVPHGKLLKQKSEEPSVSIPFLQTALLRSSGSLGHRPSQEMDKMLK
NQATSATSEKDNDDDQSDKGTYTIELENPNSEEVEARKMIDKVFGVDDNQDYNRPVINEK
HKDLIKDWALSSAAAVMEERKPLTTSGFHHSEEGTSSSGSKRWVSQWASLAANHTRHDQE
ERIMEFSAPLPLENETEISESGMTVRSTGSATSLASQGERRRRTLPQLPNEEKSLESHRA
KVVTQRSEIGEKQDTELQEKETPTQVYQKDKQDADRPLSKMNRAVNGETLKTGGDNKTLL
HLGSSAPGKEKSETDKETSLVKQTLAKLQQQEQREEAQWTPTKLSSKNVSGQTDKCREET
FKQESQPPEKNSGHSTSKGDRVAQSESKRRKAEEILKSQTPKGGDKKESSKSLVRQGSFT
IEKPSPNIPIELIPHINKQTSSTPSSLALTSASRIRERSESLDPDSSMDTTLILKDTEAV
MAFLEAKLREDNKTDEGPDTPSYNRDNSISPESDVDTASTISLVTGETERKSTQKRKSFT
SLYKDRCSTGSPSKDVTKSSSSGAREKMEKKTKSRSTDVGSRADGRKFVQSSGRIRQPSV
DLTDDDQTSSVPHSAISDIMSSDQETYSCKPHGRTPLTSADEHVHSKLEGSKVTKSKTSP
VVSGSSSKSTTLPRPRPTRTSLLRRARLGEASDSELADADKASVASEVSTTSSTSKPPTG
RRNISRIDLLAQPRRTRLGSLSARSDSEATISRSSASSRTAEAIIRSGARLVPSDKFSPR
IRANSISRLSDSKVKSMTSAHGSASVNSRWRRFPTDYASTSEDEFGSNRNSPKHTRLRTS
PALKTTRLQSAGSAMPTSSSFKHRIKEQEDYIRDWTAHREEIARISQDLALIAREINDVA
GEIDSVTSSGTAPSTTVSTAATTPGSAIDTREELVDRVFDESLNFRKIPPLVHSKTPEGN
NGRSGDPRPQAAEPPDHLTITRRRTWSRDEVMGDNLLLSSVFQFSKKIRQSIDKTAGKIR
ILFKDKDRNWDDIESKLRAESEVPIVKTSSMEISSILQELKRVEKQLQAINAMIDPDGTL
EALNNM
GFPSAMLPSPPKQKSSPVNNHHSPGQTPTLGQPEARALHPAAVSAAAEFENAES
EADFSIHFNRFNPDGEEEDVTVQE
Sequence length 1584
Interactions View interactions
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRONCHOPULMONARY DYSPLASIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA 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
Carcinoma of lung Lung carcinoma GWASCAT_DG 28604730
★☆☆☆☆
Found in Text Mining only
Congenital contractural arachnodactyly Congenital contractural arachnodactyly Pubtator 21934713 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Gestational Gestational diabetes Pubtator 37873933 Associate
★☆☆☆☆
Found in Text Mining only
Melanoma Melanoma Pubtator 36052492 Associate
★☆☆☆☆
Found in Text Mining only
Microcephaly Microcephaly BEFREE 31197141
★☆☆☆☆
Found in Text Mining only