CALB1 (calbindin 1)

Gene

• Entrez ID: 793
• Gene name: Calbindin 1
• Gene symbol: CALB1
• Synonyms (NCBI Gene): 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
GO:0005509	Function	Calcium ion binding	IDA	30289411
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	IMP	18359862
GO:0005515	Function	Protein binding	IPI	16763551, 20098747, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	16928804
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007611	Process	Learning or memory	IEA
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:0010996	Process	Response to auditory stimulus	IEA
GO:0030424	Component	Axon	IDA	22796338
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	IDA	22796338
GO:0030425	Component	Dendrite	IEA
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	IEA
GO:0043025	Component	Neuronal cell body	IDA	22796338
GO:0043025	Component	Neuronal cell body	IEA
GO:0043195	Component	Terminal bouton	IBA
GO:0044305	Component	Calyx of Held	IEA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0055074	Process	Calcium ion homeostasis	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
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:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0099509	Process	Regulation of presynaptic cytosolic calcium ion concentration	IEA
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

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

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
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Medulloblastoma	Medulloblastoma	BEFREE	8584029		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33924468	Associate	★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	29069596		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	32325953	Inhibit	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	8692898		★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	32325953	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	30461560		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	18585682, 24674775, 30127470		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	18585682	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	40442728	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	22086884, 27766950, 36176934	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	37192000, 37463444	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31059057		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	29089991		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	8584029		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	15922086		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	30170041		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	29035369, 29069596		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36618366	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	36222281	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31191739		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	31191739	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31262060		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31262060		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	31262060		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	35676735	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	21258766		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29035369, 31191739		★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	31191739	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	29035369, 31191739		★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	24252438	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24086629	Associate	★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	30861522		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	15990326, 20660112, 2140897, 27818324, 8526457		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	1836019	Associate	★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	12204357		★☆☆☆☆ Found in Text Mining only
Hypercalciuria Absorptive 2	Hypercalciuria	Pubtator	27161247	Inhibit	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	22483853, 28384033, 29035369, 29573847		★☆☆☆☆ Found in Text Mining only
Kearns-Sayre syndrome	Kearns Sayre Syndrome	BEFREE	10465502		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	CTD_human_DG	21258088, 21865292		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Neoplasm	Kidney Neoplasm	BEFREE	15698544		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	37816306	Associate	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	27746320, 28164279		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	30920021		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	30545133		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	21258766		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31059057		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	12124842	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	8584029		★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	MELAS Syndrome	BEFREE	22483853		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31191739		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	18762803, 20308991, 26249043		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia	Multiple Endocrine Neoplasia	BEFREE	1517376		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	1517376		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29316719, 30638403		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29035369		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	35676735	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28164279		★☆☆☆☆ Found in Text Mining only
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5	Neurodegeneration With Brain Iron Accumulation	BEFREE	31238825		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	2140897, 30861522		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30638403		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31059057		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31059057	Stimulate	★☆☆☆☆ Found in Text Mining only
Paraneoplastic Syndromes	Paraneoplastic syndrome	Pubtator	20054781	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	15181237, 18568448, 19674066, 2140897, 28164279, 28264982, 31229437, 31361457		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	31229437	Stimulate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	30161282		★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	20054781	Associate	★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria type 1	Hyperoxaluria	Pubtator	27161247	Inhibit	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22086884		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	31262060		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	11063754	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18585682, 24674775, 31118643		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	18585682, 24674775		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	18585682	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	26081613	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	BEFREE	10985694		★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	33635380	Associate	★☆☆☆☆ Found in Text Mining only
Transient Cerebral Ischemia	Cerebral Ischemia	BEFREE	28761424		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	28761424		★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	29574743, 31118881		★☆☆☆☆ Found in Text Mining only