BCCIP (BRCA2 and CDKN1A interacting protein)

Gene

• Entrez ID: 56647
• Gene name: BRCA2 and CDKN1A interacting protein
• Gene symbol: BCCIP
• Synonyms (NCBI Gene): TOK-1, TOK1
• Chromosome: 10
• Chromosome location: 10q26.2
• Summary: This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin and M-

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022455	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT025700	hsa-miR-7-5p	Microarray	19073608
MIRT031532	hsa-miR-16-5p	Proteomics	18668040
MIRT048007	hsa-miR-30c-5p	CLASH	23622248
MIRT038174	hsa-miR-423-5p	CLASH	23622248
MIRT261876	hsa-let-7c-5p	3'LIFE	25074381
MIRT261876	hsa-let-7c-5p	3'LIFE	25074381
MIRT739751	hsa-miR-543	HITS-CLIP	33718276
MIRT739752	hsa-miR-3143	HITS-CLIP	33718276
MIRT739753	hsa-miR-4668-3p	HITS-CLIP	33718276
MIRT739754	hsa-miR-3672	HITS-CLIP	33718276
MIRT739755	hsa-miR-4329	HITS-CLIP	33718276
MIRT817883	hsa-miR-146a	CLIP-seq
MIRT817884	hsa-miR-146b-5p	CLIP-seq
MIRT817885	hsa-miR-371-5p	CLIP-seq
MIRT817886	hsa-miR-371b-5p	CLIP-seq
MIRT817887	hsa-miR-3919	CLIP-seq
MIRT817888	hsa-miR-3925-5p	CLIP-seq
MIRT817889	hsa-miR-4695-3p	CLIP-seq
MIRT817890	hsa-miR-592	CLIP-seq
MIRT817891	hsa-miR-597	CLIP-seq
MIRT817892	hsa-miR-668	CLIP-seq
MIRT817885	hsa-miR-371-5p	CLIP-seq
MIRT817886	hsa-miR-371b-5p	CLIP-seq
MIRT817889	hsa-miR-4695-3p	CLIP-seq
MIRT1941767	hsa-miR-370	CLIP-seq
MIRT2484048	hsa-miR-1470	CLIP-seq
MIRT2484049	hsa-miR-188-5p	CLIP-seq
MIRT817885	hsa-miR-371-5p	CLIP-seq
MIRT817886	hsa-miR-371b-5p	CLIP-seq
MIRT2484050	hsa-miR-4307	CLIP-seq
MIRT2484051	hsa-miR-4667-3p	CLIP-seq
MIRT817889	hsa-miR-4695-3p	CLIP-seq
MIRT2484052	hsa-miR-4735-5p	CLIP-seq
MIRT2484053	hsa-miR-4768-3p	CLIP-seq
MIRT2484054	hsa-miR-495	CLIP-seq
MIRT2484055	hsa-miR-665	CLIP-seq
MIRT2484056	hsa-miR-885-5p	CLIP-seq
MIRT2675890	hsa-miR-1180	CLIP-seq
MIRT2675891	hsa-miR-1278	CLIP-seq
MIRT2675892	hsa-miR-3925-3p	CLIP-seq
MIRT2675893	hsa-miR-4318	CLIP-seq
MIRT2675894	hsa-miR-4693-5p	CLIP-seq
MIRT2675895	hsa-miR-4711-3p	CLIP-seq
MIRT2675896	hsa-miR-4712-5p	CLIP-seq
MIRT2675897	hsa-miR-593	CLIP-seq
MIRT2675898	hsa-miR-766	CLIP-seq
MIRT2675899	hsa-miR-770-5p	CLIP-seq
MIRT2675900	hsa-miR-892a	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000079	Process	Regulation of cyclin-dependent protein serine/threonine kinase activity	IDA	10878006
GO:0000079	Process	Regulation of cyclin-dependent protein serine/threonine kinase activity	TAS	10878006
GO:0000132	Process	Establishment of mitotic spindle orientation	IMP	28394342
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	IMP	28394342
GO:0000922	Component	Spindle pole	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	16189514, 18440304, 25416956, 28394342, 28931820, 32296183, 33961781
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	10878006
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	28394342
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IDA	28394342
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007052	Process	Mitotic spindle organization	IEA
GO:0007052	Process	Mitotic spindle organization	IMP	28394342
GO:0015631	Function	Tubulin binding	IDA	28394342
GO:0019207	Function	Kinase regulator activity	IDA	10878006
GO:0019908	Component	Nuclear cyclin-dependent protein kinase holoenzyme complex	IDA	10878006
GO:0034453	Process	Microtubule anchoring	IEA
GO:0034453	Process	Microtubule anchoring	IMP	28394342
GO:0061101	Process	Neuroendocrine cell differentiation	IDA	18440304
GO:0090307	Process	Mitotic spindle assembly	IMP	28394342
GO:0097431	Component	Mitotic spindle pole	IDA	28394342
GO:0097431	Component	Mitotic spindle pole	IEA

Other IDs

• MIM: 611883
• HGNC: 978
• e!Ensembl: ENSG00000107949

Protein

• UniProt ID: Q9P287
• Protein name: BRCA2 and CDKN1A-interacting protein (P21- and CDK-associated protein 1) (Protein TOK-1)
• Protein function: During interphase, required for microtubule organizing and anchoring activities. During mitosis, required for the organization and stabilization of the spindle pole (PubMed:28394342). Isoform 2/alpha is particularly important for the regulation
• PDB: 7KYQ, 7KYS, 8EQB, 8EXE, 8EXF
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13862	BCIP	56 → 256	p21-C-terminal region-binding protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed at high levels in testis and skeletal muscle and at lower levels in brain, heart, kidney, liver, lung, ovary, pancreas, placenta, and spleen. {ECO:0000269|PubMed:10878006, ECO:0000269|PubMed:11313963}.
• Sequence:

  MASRSKRRAVESGVPQPPDPPVQRDEEEEKEVENEDEDDDDSDKEKDEEDEVIDEEVNIE
  FEAYSLSDNDYDGIKKLLQQLFLKAPVNTAELTDLLIQQNHIGSVIKQTDVSEDSNDDMD
  EDEVFGFISLLNLTERKGTQCVEQIQELVLRFCEKNCEKSMVEQLDKFLNDTTKPVGLLL
  SERFINVPPQIALPMYQQLQKELAGAHRTNKPCGKCYFYLLISKTFVEAGKNNSKKKPSN
  KKKAALMFANAEEEFFYEKAILKFNYSVQEESDTCLGGKWSFDDVPMTPLRTVMLIPGDK
  MNEIMDKLKEYLSV

• Sequence length: 314

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Astrocytoma	Astrocytoma	BEFREE	19653894		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	19653894	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	11313963		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23911796, 29047390		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19653894	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24101097		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	24101097		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24101097, 28386336		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27535137	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35601016	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19653894		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19653894	Inhibit	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	BEFREE	23911796		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	12527204		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	19046788	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	11313963		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23911796, 29047390		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	24101097		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12527204, 19653894, 23911796, 24101097		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	11754111, 11836363		★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	24101097		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19653894, 24101097, 27995408		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24101097		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	27535137	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	27995408		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29047390		★☆☆☆☆ Found in Text Mining only