• Gene id: 9478

Gene Summary

• Gene Symbol: CABP1   Gene   UCSC   Ensembl
• Aliases: CALBRAIN, HCALB_BR
• Gene name: calcium binding protein 1
• Alternate names: calcium-binding protein 1, calcium binding protein 5, caldendrin,
• Gene location: 12q24.31 (120640551: 120680868)     Exons: 9     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 605563

Protein Summary

• Protein general information: Q9NZU7  
  • Name: Calcium binding protein 1 (CaBP1) (Calbrain) (Caldendrin)
  • Length: 370  
  • Mass: 39838
  • 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:

  MGGGDGAAFKRPGDGARLQRVLGLGSRREPRSLPAGGPAPRRTAPPPPGHASAGPAAMSSHIAKSESKTSLLKAA
  AAAASGGSRAPRHGPARDPGLPSRRLPGSCPATPQSSGDPSSRRPLCRPAPREEGARGSQRVLPQAHCRPREALP
  AAASRPSPSSPLPPARGRDGEERGLSPALGLRGSLRARGRGDSVPAAASEADPFLHRLRPMLSSAFGQDRSLRPE
  EIEELREAFREFDKDKDGYINCRDLGNCMRTMGYMPTEMELIELSQQINMNLGGHVDFDDFVELMGPKLLAETAD
  MIGVKELRDAFREFDTNGDGEISTSELREAMRKLLGHQVGHRDIEEIIRDVDLNGDGRVDFEEFVRMMSR

• Structural information:
  • Protein Domains: (225..26-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (261..29-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (302..33-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PR-)
  • Interpro: IPR011992  IPR018247  IPR002048  
  • Prosite: PS00018 PS50222
  • CDD: cd00051
  • PDB: 2K7B 2K7C 2K7D 2LAN 2LAP 3OX5 3OX6
  • PDBsum: 2K7B 2K7C 2K7D 2LAN 2LAP 3OX5 3OX6
  • DIP: 35477
  • STRING: ENSP00000317310
• Other Databases: GeneCards:  CABP1  Malacards:  CABP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007601	visual perception	ISS	biological process
GO:0042308	negative regulation of protein import into nucleus	ISS	biological process
GO:0008139	nuclear localization sequence binding	ISS	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0050896	response to stimulus	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0004857	enzyme inhibitor activity	TAS	molecular function
GO:0005509	calcium ion binding	TAS	molecular function
GO:0000139	Golgi membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005938	cell cortex	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0043086	negative regulation of catalytic activity	IEA	biological process
GO:0014069	postsynaptic density	IDA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Schizophrenia	PMID:17719205
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq