DNAI7 (dynein axonemal intermediate chain 7)

Gene

• Entrez ID: 55259
• Gene name: Dynein axonemal intermediate chain 7
• Gene symbol: DNAI7
• Synonyms (NCBI Gene): CASC1, CFAP94, LAS1, PPP1R54
• Chromosome: 12
• Chromosome location: 12p12.1

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005858	Component	Axonemal dynein complex	ISS
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0005930	Component	Axoneme	IBA
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	ISS
GO:0042995	Component	Cell projection	IEA
GO:0048487	Function	Beta-tubulin binding	IBA
GO:0048487	Function	Beta-tubulin binding	ISS

Other IDs

• MIM: 616906
• HGNC: 29599
• e!Ensembl: ENSG00000118307

Protein

• UniProt ID: Q6TDU7
• Protein name: Dynein axonemal intermediate chain 7 (Cancer susceptibility candidate gene 1 protein) (Protein CASC1) (Cilia and flagella associated protein 94) (Lung adenoma susceptibility 1-like protein) (Protein phosphatase 1 regulatory subunit 54)
• Protein function: Via its association with the multisubunit axonemal dynein complex, is potentially involved in the regulation of cilia function. May also act as a cell cycle regulator.
• PDB: 8J07
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15927	Casc1_N	10 → 224	Cancer susceptibility candidate 1 N-terminus	Family

• Sequence:

  MSGSKKKKVTKAERLKLLQEEEERRLKEEEEARLKYEKEEMERLEIQRIEKEKWHRLEAK
  DLERRNEELEELYLLERCFPEAEKLKQETKLLSQWKHYIQCDGSPDPSVAQEMNTFISLW
  KEKTNETFEEVIEKSKVVLNLIEKLKFILLETPPCDLQDKNIIQYQESILQLQELLHLKF
  GVATEILLKQASTLADLDSGNMEKVIKDENVTLYVWANLKKNPRHRSVRFSETQIGFEIP
  RILATSDIAVRLLHTHYDHVSALHPVSTPSKEYTSAVTELVKDDVKNVEKAISKEVEEES
  KQQERGSHLIQEEEIKVEEEQGDIEVKMSSAEEESEAIKCEREMKVLSETVSAAQLLLVE
  NSSEKPDFFEDNVVDLCQFTTLGGVYHLDILELPPQCKPVKGWMIVEILKEGLQKYTYPP
  ETTEEFETENAFPPIEVTLEVHENVIFFEDPVVVRWDAEGKHWRTDGISNVSYKPKERLV
  TFSLDTFGPVTLIQDAHINMPYQSWELRPLDVNKVLLTVTTVFTEIQIQIKENLCMLSSI
  KLKDKKHISILEGTWMTPIPFIIALKEAGLNIFPTRHSHFYVIINNKVPLVEVKAYRQMA
  LLSSAFAFGWSKWNLLCNSTKVVFKVREHLTEACTENPNWALLMFSGDRAQRLKIKEESE
  AFSEALKEETEFHSTLYHMVKDFASEEAMEKVRSSNCQFVNSVCHMLLSTRLLSYS

• Sequence length: 716

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
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	16410263		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21888628		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16410263, 16458428		★☆☆☆☆ Found in Text Mining only
Fallopian Tube Carcinoma	Fallopian Tube Carcinoma	BEFREE	10785486		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	36796466	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28652339		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	36796466	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	14583591, 16410263, 16862160, 24860162		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	15064703		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	21888628		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	15064703		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16410263, 16458428		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	28652339		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16862160, 24860162		★☆☆☆☆ Found in Text Mining only