CIMAP3 (ciliary microtubule associated protein 3)

Gene

• Entrez ID: 128344
• Gene name: Ciliary microtubule associated protein 3
• Gene symbol: CIMAP3
• Synonyms (NCBI Gene): C1orf88, PIFO, pitchfork
• Chromosome: 1
• Chromosome location: 1p13.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018591	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20643351
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IEA
GO:0005802	Component	Trans-Golgi network	ISS
GO:0008092	Function	Cytoskeletal protein binding	IBA
GO:0019894	Function	Kinesin binding	IEA
GO:0019894	Function	Kinesin binding	IPI	20643351
GO:0019901	Function	Protein kinase binding	IEA
GO:0019901	Function	Protein kinase binding	IPI	20643351
GO:0030030	Process	Cell projection organization	IEA
GO:0031267	Function	Small GTPase binding	IEA
GO:0031267	Function	Small GTPase binding	IPI	20643351
GO:0031344	Process	Regulation of cell projection organization	IBA
GO:0031344	Process	Regulation of cell projection organization	IEA
GO:0031344	Process	Regulation of cell projection organization	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0033674	Process	Positive regulation of kinase activity	IMP	20643351
GO:0036064	Component	Ciliary basal body	IEA
GO:0036064	Component	Ciliary basal body	ISS
GO:0043015	Function	Gamma-tubulin binding	IDA	20643351
GO:0043015	Function	Gamma-tubulin binding	IEA
GO:0044782	Process	Cilium organization	IEA
GO:0048487	Function	Beta-tubulin binding	IDA	20643351
GO:0048487	Function	Beta-tubulin binding	IEA
GO:0060971	Process	Embryonic heart tube left/right pattern formation	IEA

Other IDs

• MIM: 614234
• HGNC: 27009
• e!Ensembl: ENSG00000173947

Protein

• UniProt ID: Q8TCI5
• Protein name: Ciliary microtubule-associated protein 3 (Protein pitchfork)
• Protein function: During primary cilia disassembly, involved in cilia disassembly. Required specifically to control cilia retraction as well as the liberation and duplication of the basal body/centrosome. May act by stimulating AURKA activity at the basal body in
• Sequence:

  MCFSRADAADNYPFGTCQQRKLFPHFHPPNLIGNKFVPLRGSPHRGPGCYFSDGYGLAYD
  LSKIPTSIKGYTLGARTAVRFKPIQKEMTPHAGRYQKVSPQQEKHKQNFAPFNVLVPRFK
  NYPKDTYYPSPGAYNPEKKPPPKIAWPMKFGSPDWAQVPCLQKRTLKAELSTDKDFRKHR
  NRVAYLSLYYN

• Sequence length: 191

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	28877752		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	28459465		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	29742019		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	29742019		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30172742		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29321663		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29321663		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	28459465, 29158396		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28877752		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29742019		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	30172742	Associate	★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	BEFREE	23805271		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	28671279		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	30172742	Associate	★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	BEFREE	20643351		★☆☆☆☆ Found in Text Mining only