CALB1 - calbindin 1 Gene

Also Known as CALB; D-28K

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 793

About CALB1

Cytogenetic location: 8q21.3 Genomic coordinates (GRCh38): 8:90,058,608-90,082,879 (from NCBI)

This gene has 11 transcripts (splice variants), 163 orthologues and 2 paralogues. Restricted expression toward kidney (RPKM 156.4).

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 domains, and has two modified domains that are thought to have lost their calcium binding capability. This protein is thought to buffer entry of calcium upon stimulation of glutamate receptors. Depletion of this protein was noted in patients with Huntington disease. [provided by RefSeq, Jan 2015]

CALB1 Products (2)

mRNA	Protein	Name
NM_001366795.1	NP_001353724.1	calbindin isoform 2
NM_004929.4	NP_004920.1	calbindin isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables calcium ion binding	IDA IDA: Inferred from direct assay	30289411	GOA
enables calcium ion binding	IMP IMP: Inferred from mutant phenotype	18359862	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16763551	GOA
enables zinc ion binding	IMP IMP: Inferred from mutant phenotype	18359862	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in long-term memory	IMP IMP: Inferred from mutant phenotype	22796338	GOA
involved in short-term memory	IMP IMP: Inferred from mutant phenotype	22796338	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in axon	IDA IDA: Inferred from direct assay	22796338	GOA
located in dendrite	IDA IDA: Inferred from direct assay	22796338	GOA
located in neuronal cell body	IDA IDA: Inferred from direct assay	22796338	GOA
located in nucleus	IDA IDA: Inferred from direct assay	16928804	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CALB1 Protein Structure

EF-hand_6

EF-hand_7

EF-hand_6

0
100
200
261 a.a.

Protein Preferred Names	Protein Names
calbindin	RTVL-H protein

CALB1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	CALB1	P05937	TRPV5	Homo sapiens	Q9NQA5	Imaging	16763551
Intra	CALB1	P05937	IKBKG	Homo sapiens	Q9Y6K9	Y2H	20098747
Intra	CALB1	P05937	IKBKG	Homo sapiens	Q9Y6K9	Pull Down	20098747

Cross: Cross-species interaction Intra: Intraspecies interaction

CALB1 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P80040	Calbindin Antibody (YA574)	WB, ICC/IF, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Blessig'S Cysts	Microcystoid Retinal Degeneration Blessig Cysts Iwanoff'S Cysts Microcystoid Degeneration Of Retina
Temporal Lobe Epilepsy	Epilepsy, Temporal Lobe Epilepsy Temporal Lobe
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
Status Epilepticus	Grand Mal Status Epilepticus Grand Mal Status Gcse Generalized Convulsive Status Epilepticus Se Epilepsy With Status Epilepticus
Breast Fibrosarcoma	Fibrosarcoma Of The Breast
Ulnar Nerve Lesion	Lesion Of Ulnar Nerve Mononeuritis Ulnar Nerve Tardy Ulnar Nerve Palsy
Placental Insufficiency	Uteroplacental Vascular Insufficiency
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease
Sodoku Disease	Spirillosis Sodoku Spirillary Fever Rat-Bite Fever Rat-Bite Fever Due To Spirillum Minus Spirillary Rat-Bite Fever Sokosho
Spontaneous Ocular Nystagmus	Visual Deprivation Nystagmus Ocular Nystagmus Searching Eye Movements Nystagmus, Pathologic
Articulation Disorder	Phonological Disorder Articulation Disorders Articulation Impairment Speech Sound Disorders
Nephrotic Syndrome, Type 10	NPHS10 Nephrotic Syndrome Type 10 Idiopathic Steroid-Sensitive Nephrotic Syndrome Nephrotic Syndrome 10
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Bipolar Disorder	Bipolar Depression Manic Disorder Depression, Bipolar Bipolar Disorder Manic Phase Depressive-Manic Psych. Manic Bipolar Affective Disorder Manic Bipolar I Disorder Manic Depression Manic Depressive Disorder Mixed Bipolar Disorder Bipolar Affective Disorder Bipolar Affective Psychosis Bipolar Spectrum Disorder Manic Depressive Illness Depression Bipolar Bipolar Disorder, Mixed Major Affective Disorder Major Affective Disorder 1 Major Affective Disorder 2
Temporal Lobe Neoplasm	Neoplasm Of Temporal Lobe Malignant Neoplasm Of Temporal Lobe Tumor Of Temporal Lobe
Arthrogryposis, Distal, Type 1a	Distal Arthrogryposis Type 1 Digitotalar Dysmorphism DA1A Da1 Amcd1 Arthrogryposis, Distal, Type 2b4 Distal Arthrogryposis Type 1a Arthrogryposis, Distal, Type 1 Arthrogryposis Multiplex Congenita Distal Type 1 Arthrogryposis Multiplex Congenita, Distal Type 1 Arthrogryposis Multiplex Congenita, Distal, Type I Distal Arthrogryposis Type 1b Arthrogryposis, Distal, 1a Amc Arthrogryposis Multiplex Congenita Arthrogryposis, Distal, 2b4 DA2B4 Arthrogryposis Multiplex Congenita, Distal, Type 1 Arthrogryposis
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Spinocerebellar Ataxia 38	Spinocerebellar Ataxia Type 38 SCA38 Ataxia, Spinocerebellar, Type 38
Granulomatous Endometritis
Wernicke-Korsakoff Syndrome	Korsakoff Syndrome Transketolase Defect Korsakoff'S Syndrome Alcohol-Induced Encephalopathy Korsakoff'S Psychosis Korsakov Psychosis Korsakov'S Psychosis Alcohol Induced Encephalopathy Korsakoff Disease Korsakoff Psychosis
Stuttering	Stammering Familial Persistent Stuttering Stuttering, Familial Persistent 1
Thiamine Deficiency Disease
Spinocerebellar Ataxia 1	Spinocerebellar Ataxia Type 1 SCA1 Olivopontocerebellar Atrophy I Opca1 Opca4 Menzel Type Opca Schut-Haymaker Type Opca Spinocerebellar Atrophy I Opca I Olivopontocerebellar Atrophy Iv Opca Iv Cerebelloparenchymal Disorder I Cpd1 Olivopontocerebellar Atrophy 1 Cerebelloparenchymal Disorder 1 Olivopontocerebellar Atrophy 4 Spinocerebellar Atrophy 1 Type 1 Spinocerebellar Ataxia Spinocerebellar Ataxia-1 Ataxia, Spinocerebellar, Type 1
Schizophrenia 12	Sczd12 Schizophrenia Susceptibility Locus, Chromosome 1p-Related
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Speech Disorder	Speech Disorders
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Psychotic Disorder	Psychotic Disorders Mental Or Behavioural Disorder Psychotic Mental Disorders
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS01826	CALB1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	CALB1	VGNC	VGNC:60317
Mus musculus	CALB1	MGD	MGI:88248
Canis familiaris	CALB1	VGNC	VGNC:38660
Bos taurus	CALB1	VGNC	VGNC:26700
Rattus norvegicus	CALB1	RGD	RGD:69340
Macaca mulatta	CALB1	VGNC	VGNC:70514
Others	CALB1	NCBI