CALB1 (calbindin 1)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
793
Gene name Gene Name - the full gene name approved by the HGNC.
Calbindin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CALB1
Synonyms (NCBI Gene) Gene synonyms aliases
CALB, D-28K
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
VDR Activation 1317496
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
114050 1434 ENSG00000104327
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Endocrine and other factor-regulated calcium reabsorption   Amyloid fiber formation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Show/Hide Text Mining Associations (40)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Kidney Injury Associate 28640195
Alzheimer Disease Associate 33924468
Amyotrophic Lateral Sclerosis Inhibit 32325953
Amyotrophic lateral sclerosis 1 Associate 32325953
Anemia Diamond Blackfan Associate 37267698
Bipolar Disorder Associate 18585682
Breast Neoplasms Associate 40442728
Carcinoma Renal Cell Associate 22086884, 27766950, 36176934
Carcinoma Squamous Cell Associate 37192000, 37463444
Colorectal Neoplasms Associate 36618366