• Gene id: 793

Gene Summary

• Gene Symbol: CALB1   Gene   UCSC   Ensembl
• Aliases: CALB, D-28K
• Gene name: calbindin 1
• Alternate names: calbindin, RTVL-H protein, calbindin 1, (28kD), calbindin 1, 28kDa, calbindin 27, calbindin D28, vitamin D-dependent calcium-binding protein, avian-type,
• Gene location: 8q21.3 (90082878: 90058607)     Exons: 11     NC_000008.11
• Gene summary(Entrez): The protein encoded by this gene is a member of the calcium-binding protein superfamily that includes calmodulin and troponin C. Originally described as a 27 kDa protein, it is now known to be a 28 kDa protein. It contains four active calcium-binding doma
• OMIM: 114050

Protein Summary

• Protein general information: P05937  
  • Name: Calbindin (Calbindin D28) (D 28K) (Vitamin D dependent calcium binding protein, avian type)
  • Length: 261  
  • Mass: 30025
• Sequence:

  MAESHLQSSLITASQFFEIWLHFDADGSGYLEGKELQNLIQELQQARKKAGLELSPEMKTFVDQYGQRDDGKIGI
  VELAHVLPTEENFLLLFRCQQLKSCEEFMKTWRKYDTDHSGFIETEELKNFLKDLLEKANKTVDDTKLAEYTDLM
  LKLFDSNNDGKLELTEMARLLPVQENFLLKFQGIKMCGKEFNKAFELYDQDGNGYIDENELDALLKDLCEKNKQD
  LDINNITTYKKNIMALSDGGKLYRTDLALILCAGDN

• Structural information:
  • Protein Domains: (11..4-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (53..8-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (98..13-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0044-)
  • Interpro: IPR029634  IPR011992  IPR018247  IPR002048  
  • Prosite: PS00018 PS50222
  • PDB: 6FIE
  • PDBsum: 6FIE
  • STRING: ENSP00000265431
• Other Databases: GeneCards:  CALB1  Malacards:  CALB1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0043197	dendritic spine	IBA	cellular component
GO:0045202	synapse	IBA	cellular component
GO:0099509	regulation of presynaptic cytosolic calcium ion concentration	IBA	biological process
GO:0005509	calcium ion binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0030425	dendrite	IBA	cellular component
GO:0043005	neuron projection	IBA	cellular component
GO:0043195	terminal bouton	IBA	cellular component
GO:0051480	regulation of cytosolic calcium ion concentration	IBA	biological process
GO:1900271	regulation of long-term synaptic potentiation	IBA	biological process
GO:0005509	calcium ion binding	IDA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0055074	calcium ion homeostasis	IEA	biological process
GO:0005499	vitamin D binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1900271	regulation of long-term synaptic potentiation	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0072286	metanephric connecting tubule development	IEA	biological process
GO:0072221	metanephric distal convoluted tubule development	IEA	biological process
GO:0072205	metanephric collecting duct development	IEA	biological process
GO:0071310	cellular response to organic substance	IEA	biological process
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0044297	cell body	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0010842	retina layer formation	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0005509	calcium ion binding	IEA	molecular function
GO:0099523	presynaptic cytosol	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0048167	regulation of synaptic plasticity	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0007611	learning or memory	IEA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0099567	calcium ion binding involved in regulation of postsynaptic cytosolic calcium ion concentration	IEA	molecular function
GO:0099534	calcium ion binding involved in regulation of presynaptic cytosolic calcium ion concentration	IEA	molecular function
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0098686	hippocampal mossy fiber to CA3 synapse	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0035502	metanephric part of ureteric bud development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0099524	postsynaptic cytosol	IEA	cellular component
GO:0099509	regulation of presynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0090102	cochlea development	IEA	biological process
GO:0044305	calyx of Held	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0032437	cuticular plate	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0030424	axon	ISS	cellular component
GO:0099566	regulation of postsynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0030425	dendrite	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0030424	axon	IDA	cellular component
GO:0043025	neuronal cell body	IDA	cellular component
GO:0008270	zinc ion binding	IMP	molecular function
GO:0007616	long-term memory	IMP	biological process
GO:0005509	calcium ion binding	IMP	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0007614	short-term memory	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04961	Endocrine and other factor-regulated calcium reabsorption

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R