CFAP144 (cilia and flagella associated protein 144)

Gene

• Entrez ID: 440585
• Gene name: Cilia and flagella associated protein 144
• Gene symbol: CFAP144
• Synonyms (NCBI Gene): FAM183A
• Chromosome: 1
• Chromosome location: 1p34.2

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005879	Component	Axonemal microtubule	IDA	36191189
GO:0005929	Component	Cilium	IEA
GO:0008017	Function	Microtubule binding	IDA	36191189
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0031514	Component	Motile cilium	IEA
GO:0036126	Component	Sperm flagellum	ISS
GO:0042995	Component	Cell projection	IEA
GO:0097546	Component	Ciliary base	IBA
GO:0160112	Component	Axonemal B tubule inner sheath	ISS

Other IDs

• MIM: 621114
• HGNC: 34347
• e!Ensembl: ENSG00000186973

Protein

• UniProt ID: A6NL82
• Protein name: Cilia- and flagella-associated protein 144 (Protein FAM183A)
• Protein function: Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating.
• PDB: 7UNG, 8J07
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14886	FAM183	18 → 121	FAM183A and FAM183B related	Family

• Sequence:

  MAGHPKEKVIPDEVHQNQILRELYLKELRTQKLYTQYHVNPLRKIHTVTRKPMSWHDNLE
  EPADARFLNLIHHAAQGPRKKYPETQTENQEVGWDLEPLINPERHDRRLNHFRVCSDITL
  YKAKTWGLGDDHHK

• Sequence length: 134

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
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Intellectual Disability	Mental retardation	BEFREE	30500859		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30500859	Associate	★☆☆☆☆ Found in Text Mining only