CALB1 calbindin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CALB1provided by HGNC
Official Full Name: calbindin 1provided by HGNC
Primary source: HGNC:HGNC:1434
See related: Ensembl:ENSG00000104327 MIM:114050; AllianceGenome:HGNC:1434
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CALB; D-28K
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]
Expression: Restricted expression toward kidney (RPKM 156.4) See more
Orthologs: mouse all
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Genomic context

Location:: 8q21.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (90058608..90082879, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (91182279..91206531, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (91070836..91095107, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human endogenous retrovirus onco-exaptation counters cancer cell senescence through calbindin.
Title: Human endogenous retrovirus onco-exaptation counters cancer cell senescence through calbindin.
Expression of the Calcium-Binding Protein CALB1 Is Induced and Controls Intracellular Ca(2+) Levels in Senescent Cells.
Title: Expression of the Calcium-Binding Protein CALB1 Is Induced and Controls Intracellular Ca(2+) Levels in Senescent Cells.
Brain CHID1 Expression Correlates with NRGN and CALB1 in Healthy Subjects and AD Patients.
Title: Brain CHID1 Expression Correlates with NRGN and CALB1 in Healthy Subjects and AD Patients.
Protective effects of calbindinD28K on the UVB radiationinduced apoptosis of human lens epithelial cells.
Title: Protective effects of calbindin‑D28K on the UVB radiation‑induced apoptosis of human lens epithelial cells.
Advanced glycation end-products (AGEs) induced the calbindin-D28k expression in human renal proximal tubule cells (HK2), but not in mesangial cells. AGEs induced the expression of fibrotic molecules and endoplasmic reticulum (ER) stress-related molecules in HK2 cells, which could be inhibited by a receptor for AGE neutralizing antibody.
Title: Role of Calbindin-D28k in Diabetes-Associated Advanced Glycation End-Products-Induced Renal Proximal Tubule Cell Injury.
Knockdown of CALB1 inhibited the proliferation and colony formation of ovarian cancer cells. CALB1 interacts with MDM2 protooncogene (MDM2) and promoted the interaction between p53 and MDM2.
Title: CALB1 enhances the interaction between p53 and MDM2, and inhibits the senescence of ovarian cancer cells.
Results suggest that CALB1 is a direct target of miR-454-3p and downregulation of CALB1 by miR-454-3p suppressed NSCLC cell functions.
Title: Downregulation of Calbindin 1 by miR-454-3p Suppresses Cell Proliferation in Nonsmall Cell Lung Cancer In Vitro.
the Calreticulin deficiency-mediated increase in cell death was not prevented by calbindin-D28k or Parvalbumin.
Title: Calretinin Functions in Malignant Mesothelioma Cells Cannot Be Replaced by the Closely Related Ca(2+)-Binding Proteins Calbindin-D28k and Parvalbumin.
SAXS data collected in both the presence and absence of calcium indicate that there are no large structural differences in the globular structure of calbindin-D28K between the calcium-loaded and unloaded proteins.
Title: The X-ray structure of human calbindin-D28K: an improved model.
CSF calbindin concentration is a sensitive biomarker of NPC1 disease
Title: Cerebrospinal Fluid Calbindin D Concentration as a Biomarker of Cerebellar Disease Progression in Niemann-Pick Type C1 Disease.

Submit: New GeneRIF Correction See all GeneRIFs (35)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-30996 (e-PCR)
- UniSTS:72473

SGC30430 (e-PCR)
- UniSTS:69944

WI-16365 (e-PCR)
- UniSTS:27029

D8S1947 (e-PCR)
- UniSTS:6062

CALB1_4495 (e-PCR)
- UniSTS:462788

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables calcium ion binding involved in regulation of postsynaptic cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
enables calcium ion binding involved in regulation of presynaptic cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables vitamin D binding	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in cochlea development	IEA Inferred from Electronic Annotation more info
involved_in locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in long-term memory	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in metanephric collecting duct development	IEA Inferred from Electronic Annotation more info
involved_in metanephric connecting tubule development	IEA Inferred from Electronic Annotation more info
involved_in metanephric distal convoluted tubule development	IEA Inferred from Electronic Annotation more info
involved_in metanephric part of ureteric bud development	IEA Inferred from Electronic Annotation more info
involved_in regulation of long-term synaptic potentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of postsynaptic cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
involved_in regulation of presynaptic cytosolic calcium ion concentration	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to auditory stimulus	IEA Inferred from Electronic Annotation more info
involved_in retina layer formation	IEA Inferred from Electronic Annotation more info
involved_in short-term memory	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
located_in calyx of Held	IEA Inferred from Electronic Annotation more info
located_in cuticular plate	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
is_active_in dendritic spine	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in hippocampal mossy fiber to CA3 synapse	IEA Inferred from Electronic Annotation more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in postsynaptic cytosol	IEA Inferred from Electronic Annotation more info
located_in presynaptic cytosol	IEA Inferred from Electronic Annotation more info
located_in stereocilium	IEA Inferred from Electronic Annotation more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info
is_active_in terminal bouton	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: calbindin

Names: RTVL-H protein; calbindin 1, (28kD); calbindin 1, 28kDa; calbindin 27; calbindin D28; calbindin-D28k; vitamin D-dependent calcium-binding protein, avian-type

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001366795.1 → NP_001353724.1 calbindin isoform 2

Status: REVIEWED

Source sequence(s)

AC004612, AC123779

Conserved Domains (2) summary

cd15902
Location:16 → 44

EFh_HEF; EF-hand motif [structural motif]

cl23634
Location:16 → 234

EFh_HEF; EF-hand, calcium binding motif, found in the hexa-EF hand proteins family
NM_004929.4 → NP_004920.1 calbindin isoform 1

See identical proteins and their annotated locations for NP_004920.1

Status: REVIEWED

Source sequence(s)

BC020864, BX537530

Consensus CDS

CCDS6251.1

UniProtKB/Swiss-Prot

B2R696, B7Z9J4, P05937

Related

ENSP00000265431.3, ENST00000265431.7

Conserved Domains (1) summary

cd16176
Location:16 → 259

EFh_HEF_CB; EF-hand, calcium binding motif, found in calbindin (CB)