CALB1 (calbindin 1)

Gene

• Entrez ID: 793
• Gene name: Calbindin 1
• Gene symbol: CALB1
• Synonyms: CALB, D-28K
• Chromosome: 8
• Chromosome location: 8q21.3
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT858716	hsa-miR-1302	CLIP-seq
MIRT858717	hsa-miR-181a	CLIP-seq
MIRT858718	hsa-miR-181b	CLIP-seq
MIRT858719	hsa-miR-181c	CLIP-seq
MIRT858720	hsa-miR-181d	CLIP-seq
MIRT858721	hsa-miR-1912	CLIP-seq
MIRT858722	hsa-miR-2113	CLIP-seq
MIRT858723	hsa-miR-23a	CLIP-seq
MIRT858724	hsa-miR-23b	CLIP-seq
MIRT858725	hsa-miR-23c	CLIP-seq
MIRT858726	hsa-miR-3121-3p	CLIP-seq
MIRT858727	hsa-miR-3144-5p	CLIP-seq
MIRT858728	hsa-miR-3168	CLIP-seq
MIRT858729	hsa-miR-3191	CLIP-seq
MIRT858730	hsa-miR-3668	CLIP-seq
MIRT858731	hsa-miR-3924	CLIP-seq
MIRT858732	hsa-miR-4262	CLIP-seq
MIRT858733	hsa-miR-4265	CLIP-seq
MIRT858734	hsa-miR-4277	CLIP-seq
MIRT858735	hsa-miR-4296	CLIP-seq
MIRT858736	hsa-miR-4298	CLIP-seq
MIRT858737	hsa-miR-4322	CLIP-seq
MIRT858738	hsa-miR-4648	CLIP-seq
MIRT858739	hsa-miR-4652-5p	CLIP-seq
MIRT858740	hsa-miR-4654	CLIP-seq
MIRT858741	hsa-miR-4717-3p	CLIP-seq
MIRT858742	hsa-miR-4769-5p	CLIP-seq
MIRT858743	hsa-miR-4789-5p	CLIP-seq
MIRT858744	hsa-miR-4802-3p	CLIP-seq
MIRT858745	hsa-miR-498	CLIP-seq
MIRT858746	hsa-miR-513a-3p	CLIP-seq
MIRT858747	hsa-miR-642b	CLIP-seq
MIRT2192581	hsa-miR-4731-3p	CLIP-seq
MIRT2192582	hsa-miR-4801	CLIP-seq
MIRT2192583	hsa-miR-548n	CLIP-seq
MIRT2385485	hsa-miR-3201	CLIP-seq
MIRT2385486	hsa-miR-4305	CLIP-seq
MIRT2385487	hsa-miR-4733-3p	CLIP-seq
MIRT2385488	hsa-miR-4791	CLIP-seq
MIRT2385489	hsa-miR-656	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
VDR	Activation	1317496

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005499	Function	Vitamin D binding	IEA
GO:0005509	Function	Calcium ion binding	IBA	21873635
GO:0005509	Function	Calcium ion binding	IDA	30289411
GO:0005509	Function	Calcium ion binding	IMP	18359862
GO:0005515	Function	Protein binding	IPI	16763551, 20098747, 32814053
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	16928804
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0007614	Process	Short-term memory	IMP	22796338
GO:0007616	Process	Long-term memory	IMP	22796338
GO:0007626	Process	Locomotory behavior	IEA
GO:0008270	Function	Zinc ion binding	IMP	18359862
GO:0010842	Process	Retina layer formation	IEA
GO:0030424	Component	Axon	IDA	22796338
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IBA	21873635
GO:0030425	Component	Dendrite	IDA	22796338
GO:0032420	Component	Stereocilium	IEA
GO:0032437	Component	Cuticular plate	IEA
GO:0035502	Process	Metanephric part of ureteric bud development	IEA
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0043025	Component	Neuronal cell body	IDA	22796338
GO:0043195	Component	Terminal bouton	IBA	21873635
GO:0043197	Component	Dendritic spine	IBA	21873635
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0044305	Component	Calyx of Held	IEA
GO:0045202	Component	Synapse	IBA	21873635
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IBA	21873635
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071310	Process	Cellular response to organic substance	IEA
GO:0072205	Process	Metanephric collecting duct development	IEA
GO:0072221	Process	Metanephric distal convoluted tubule development	IEA
GO:0072286	Process	Metanephric connecting tubule development	IEA
GO:0090102	Process	Cochlea development	IEA
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099509	Process	Regulation of presynaptic cytosolic calcium ion concentration	IBA	21873635
GO:0099523	Component	Presynaptic cytosol	IEA
GO:0099524	Component	Postsynaptic cytosol	IEA
GO:0099534	Function	Calcium ion binding involved in regulation of presynaptic cytosolic calcium ion concentration	IEA
GO:0099566	Process	Regulation of postsynaptic cytosolic calcium ion concentration	IEA
GO:0099567	Function	Calcium ion binding involved in regulation of postsynaptic cytosolic calcium ion concentration	IEA
GO:1900271	Process	Regulation of long-term synaptic potentiation	IBA	21873635

Other IDs

• MIM: 114050
• HGNC: 1434
• e!Ensembl: ENSG00000104327

Protein

• UniProt ID: P05937
• Protein name: Calbindin (Calbindin D28) (D-28K) (Vitamin D-dependent calcium-binding protein, avian-type)
• Protein function: Buffers cytosolic calcium. May stimulate a membrane Ca(2+)-ATPase and a 3',5'-cyclic nucleotide phosphodiesterase.
• PDB: 6FIE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13499	EF-hand_7	101 → 171	EF-hand domain pair	Domain
  PF00036	EF-hand_1	190 → 218	EF hand	Domain

• Sequence:

  MAESHLQSSLITASQFFEIWLHFDADGSGYLEGKELQNLIQELQQARKKAGLELSPEMKT
  FVDQYGQRDDGKIGIVELAHVLPTEENFLLLFRCQQLKSCEEFMKTWRKYDTDHSGFIET
  EELKNFLKDLLEKANKTVDDTKLAEYTDLMLKLFDSNNDGKLELTEMARLLPVQENFLLK
  FQGIKMCGKEFNKAFELYDQDGNGYIDENELDALLKDLCEKNKQDLDINNITTYKKNIMA
  LSDGGKLYRTDLALILCAGDN

• Sequence length: 261

Pathways

KEGG:

Endocrine and other factor-regulated calcium reabsorption

Reactome:

Amyloid fiber formation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	21258088, 21865292
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	24674775, 18585682