CNKSR1 (connector enhancer of kinase suppressor of Ras 1)

Gene

• Entrez ID: 10256
• Gene name: Connector enhancer of kinase suppressor of Ras 1
• Gene symbol: CNKSR1
• Synonyms (NCBI Gene): CNK, CNK1
• Chromosome: 1
• Chromosome location: 1p36.11
• Summary: This gene encodes a protein containing several motifs involved in protein-protein interaction, including PDZ, PH (Pleckstrin homology), and SAM (sterile alpha motif) domains. The encoded protein acts as a scaffold component for receptor tyrosine kinase si

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2202643	hsa-miR-182	CLIP-seq
MIRT2202644	hsa-miR-31	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15231748, 16189514, 25416956, 28514442, 31515488, 32296183, 33961781, 35512704
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	TAS	9814705
GO:0005911	Component	Cell-cell junction	TAS	9814705
GO:0005938	Component	Cell cortex	IDA	15075335
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	TAS	9814705
GO:0016020	Component	Membrane	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	14749388

Other IDs

• MIM: 603272
• HGNC: 19700
• e!Ensembl: ENSG00000142675

Protein

• UniProt ID: Q969H4
• Protein name: Connector enhancer of kinase suppressor of ras 1 (Connector enhancer of KSR 1) (CNK homolog protein 1) (CNK1) (hCNK1) (Connector enhancer of KSR-like)
• Protein function: May function as an adapter protein or regulator of Ras signaling pathways.
• PDB: 1WWV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00536	SAM_1	5 → 68	SAM domain (Sterile alpha motif)	Domain
  PF10534	CRIC_ras_sig	78 → 162	Connector enhancer of kinase suppressor of ras	Domain
  PF00169	PH	404 → 502	PH domain	Domain

• Sequence:

  MEPVETWTPGKVATWLRGLDDSLQDYPFEDWQLPGKNLLQLCPQSLEALAVRSLGHQELI
  LGGVEQLQALSSRLQTENLQSLTEGLLGATHDFQSIVQGCLGDCAKTPIDVLCAAVELLH
  EADALLFWLSRYLFSHLNDFSACQEIRDLLEELSQVLHEDGPAAEKEGTVLRICSHVAGI
  CHNILVCCPKELLEQKAVLEQVQLDSPLGLEIHTTSNCQHFVSQVDTQVPTDSRLQIQPG
  DEVVQINEQVVVREERDMVGWPRKNMVRELLREPAGLSLVLKKIPIPETPPQTPPQVLDS
  PHQRSPSLSLAPLSPRAPSEDVFAFDLSSNPSPGPSPAWTDSASLGPEPLPIPPEPPAIL
  PAGVAGTPGLPESPDKSPVGRKKSKGLATRLSRRRVSCRELGRPDCDGWLLLRKAPGGFM
  GPRWRRRWFVLKGHTLYWYRQPQDEKAEGLINVSNYSLESGHDQKKKYVFQLTHDVYKPF
  IFAADTLTDLSMWVRHLITCISKYQSPGRAPPPREEDCYSETEAEDPDDEAGSHSASPSP
  AQAGSPLHGDTSPAATPTQRSPRTSFGSLTDSSEEALEGMVRGLRQGGVSLLGQPQPLTQ
  EQWRSSFMRRNRDPQLNERVHRVRALQSTLKAKLQELQVLEEVLGDPELTGEKFRQWKEQ
  NRELYSEGLGAWGVAQAEGSSHILTSDSTEQSPHSLPSDPEEHSHLCPLTSESSLRPPDL
  

• Sequence length: 720

Pathways

Reactome:

MAP2K and MAPK activation
Signaling by moderate kinase activity BRAF mutants
Signaling by high-kinase activity BRAF mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF
Signaling downstream of RAS mutants

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign; Likely benign	rs148237566	RCV005910010
Cervical cancer	Benign; Likely benign	rs148237566, rs61762998	RCV005910012 RCV005906150
Clear cell carcinoma of kidney	Benign; Likely benign	rs148237566	RCV005910013
CNKSR1-related disorder	Benign; Likely benign	rs144821580, rs79038190	RCV003936752 RCV003939616
Colon adenocarcinoma	Benign; Likely benign	rs144821580, rs148237566, rs61762998	RCV005932849 RCV005910009 RCV005906149
Colorectal cancer	Benign; Likely benign	rs148237566	RCV005910014
Familial cancer of breast	Benign; Likely benign	rs148237566	RCV005910008
Gastric cancer	Benign; Likely benign	rs148237566	RCV005910016
Lung cancer	Benign	rs61762998	RCV005906152
Malignant tumor of esophagus	Benign; Likely benign	rs148237566	RCV005910011
Malignant tumor of urinary bladder	Benign	rs144821580	RCV005932850
Neurodevelopmental disorder	Uncertain significance	rs2523105744	RCV002472095
Ovarian cancer	Benign	rs144821580	RCV005932851
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs148237566	RCV005910017
Sarcoma	Benign; Likely benign	rs148237566	RCV005910015
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs148237566, rs61762998	RCV005910018 RCV005906151
Usher syndrome type 2C	Benign	rs781114848	RCV001258281
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs148237566, rs61762998	RCV005910019 RCV005906153

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Associate	20197385
Carcinoma Pancreatic Ductal	Associate	36790955
Lung Neoplasms	Associate	31040156
Neoplasms	Associate	20197385, 27769899, 28732488, 28819643, 31040156
Pancreatic Neoplasms	Associate	28732488, 36790955
Rectal Neoplasms	Associate	35409691
Thyroiditis Autoimmune	Associate	37501789
Urinary Bladder Neoplasms	Associate	34541834, 35127296
Uterine Cervical Neoplasms	Associate	20197385