CABP1 (calcium binding protein 1)

Gene

• Entrez ID: 9478
• Gene name: Calcium binding protein 1
• Gene symbol: CABP1
• Synonyms (NCBI Gene): CALBRAIN, HCALB_BR
• Chromosome: 12
• Chromosome location: 12q24.31
• Summary: Calcium binding proteins are an important component of calcium mediated cellular signal transduction. This gene encodes a protein that belongs to a subfamily of calcium binding proteins which share similarity to calmodulin. The protein encoded by this gen

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016957	hsa-miR-335-5p	Microarray	18185580
MIRT022186	hsa-miR-124-3p	Microarray	18668037
MIRT857197	hsa-miR-1286	CLIP-seq
MIRT857198	hsa-miR-145	CLIP-seq
MIRT857199	hsa-miR-27a	CLIP-seq
MIRT857200	hsa-miR-27b	CLIP-seq
MIRT857201	hsa-miR-4433	CLIP-seq
MIRT857202	hsa-miR-4474-5p	CLIP-seq
MIRT857203	hsa-miR-4653-3p	CLIP-seq
MIRT857204	hsa-miR-4722-5p	CLIP-seq
MIRT857205	hsa-miR-513a-5p	CLIP-seq
MIRT857206	hsa-miR-4251	CLIP-seq
MIRT857207	hsa-miR-4303	CLIP-seq
MIRT857208	hsa-miR-4329	CLIP-seq
MIRT857209	hsa-miR-659	CLIP-seq
MIRT2495616	hsa-miR-3122	CLIP-seq
MIRT2495617	hsa-miR-34a	CLIP-seq
MIRT2495618	hsa-miR-34c-5p	CLIP-seq
MIRT2495619	hsa-miR-3689a-3p	CLIP-seq
MIRT2495620	hsa-miR-3689c	CLIP-seq
MIRT2495621	hsa-miR-3913-5p	CLIP-seq
MIRT2495622	hsa-miR-4300	CLIP-seq
MIRT2495623	hsa-miR-4453	CLIP-seq
MIRT2495624	hsa-miR-449a	CLIP-seq
MIRT2495625	hsa-miR-449b	CLIP-seq
MIRT2495626	hsa-miR-4538	CLIP-seq
MIRT2495627	hsa-miR-920	CLIP-seq
MIRT2495616	hsa-miR-3122	CLIP-seq
MIRT2495617	hsa-miR-34a	CLIP-seq
MIRT2495618	hsa-miR-34c-5p	CLIP-seq
MIRT2495619	hsa-miR-3689a-3p	CLIP-seq
MIRT2495620	hsa-miR-3689c	CLIP-seq
MIRT2495621	hsa-miR-3913-5p	CLIP-seq
MIRT2495622	hsa-miR-4300	CLIP-seq
MIRT2495623	hsa-miR-4453	CLIP-seq
MIRT2495624	hsa-miR-449a	CLIP-seq
MIRT2495625	hsa-miR-449b	CLIP-seq
MIRT2495626	hsa-miR-4538	CLIP-seq
MIRT2495627	hsa-miR-920	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	19338761
GO:0004857	Function	Enzyme inhibitor activity	TAS	9920909
GO:0005246	Function	Calcium channel regulator activity	IBA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	TAS	9920909
GO:0005515	Function	Protein binding	IPI	11865310, 15140941, 21134641
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA	19338761
GO:0005886	Component	Plasma membrane	IEA
GO:0005938	Component	Cell cortex	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	ISS
GO:0008139	Function	Nuclear localization sequence binding	ISS
GO:0014069	Component	Postsynaptic density	IDA	15140941
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0042308	Process	Negative regulation of protein import into nucleus	ISS
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048306	Function	Calcium-dependent protein binding	IPI	15980432
GO:0048471	Component	Perinuclear region of cytoplasm	IEA

Other IDs

• MIM: 605563
• HGNC: 1384
• e!Ensembl: ENSG00000157782

Protein

• UniProt ID: Q9NZU7
• Protein name: Calcium-binding protein 1 (CaBP1) (Calbrain) (Caldendrin)
• Protein function: Modulates calcium-dependent activity of inositol 1,4,5-triphosphate receptors (ITPRs) (PubMed:14570872). Inhibits agonist-induced intracellular calcium signaling (PubMed:15980432). Enhances inactivation and does not support calcium-dependent fac
• PDB: 2K7B, 2K7C, 2K7D, 2LAN, 2LAP, 3OX5, 3OX6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13499	EF-hand_7	212 → 291	EF-hand domain pair	Domain
  PF00036	EF-hand_1	306 → 334	EF hand	Domain
  PF00036	EF-hand_1	343 → 370	EF hand	Domain

• Tissue specificity: TISSUE SPECIFICITY: Retina and brain. Somatodendritic compartment of neurons. Calbrain was found exclusively in brain where it is abundant in the hippocampus, habenular area in the epithalamus and in the cerebellum.
• Sequence:

  MGGGDGAAFKRPGDGARLQRVLGLGSRREPRSLPAGGPAPRRTAPPPPGHASAGPAAMSS
  HIAKSESKTSLLKAAAAAASGGSRAPRHGPARDPGLPSRRLPGSCPATPQSSGDPSSRRP
  LCRPAPREEGARGSQRVLPQAHCRPREALPAAASRPSPSSPLPPARGRDGEERGLSPALG
  LRGSLRARGRGDSVPAAASEADPFLHRLRPMLSSAFGQDRSLRPEEIEELREAFREFDKD
  KDGYINCRDLGNCMRTMGYMPTEMELIELSQQINMNLGGHVDFDDFVELMGPKLLAETAD
  MIGVKELRDAFREFDTNGDGEISTSELREAMRKLLGHQVGHRDIEEIIRDVDLNGDGRVD
  FEEFVRMMSR

• Sequence length: 370

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
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Drug Resistant Epilepsy	Associate	27094248	★☆☆☆☆ Found in Text Mining only
Mohr Tranebjaerg syndrome	Associate	27094248	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	28544176	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Associate	30285260	★☆☆☆☆ Found in Text Mining only