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CALB1 calbindin 1 [ Homo sapiens (human) ]

Gene ID: 793, updated on 4-Jan-2025

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
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Genomic context

See CALB1 in Genome Data Viewer
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_000008.11Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:90959982-90961181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27608 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:90996459-90997255 Neighboring gene Sharpr-MPRA regulatory region 13813 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27611 Neighboring gene nibrin Neighboring gene uncharacterized LOC124901976 Neighboring gene 2,4-dienoyl-CoA reductase 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:91107580-91108779 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:91109970-91110642 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:91110643-91111314 Neighboring gene GATA motif-containing MPRA enhancer 124 Neighboring gene CRISPRi-validated cis-regulatory element chr8.2225 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:91227356-91227995 Neighboring gene long intergenic non-protein coding RNA 534 Neighboring gene uncharacterized LOC124901975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27612 Neighboring gene uncharacterized LOC107986955

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Items 1 - 20 of 21
Component Evidence Code Pubs
located_in GABA-ergic synapse  
located_in axon PubMed 
located_in axon  
located_in calyx of Held  
located_in cuticular plate  
is_active_in cytosol  
located_in cytosol  
is_active_in dendrite  
located_in dendrite PubMed 
is_active_in dendritic spine  
located_in extracellular exosome PubMed 
located_in glutamatergic synapse  
located_in hippocampal mossy fiber to CA3 synapse  
located_in neuronal cell body PubMed 
is_active_in nucleus  
located_in nucleus PubMed 
located_in postsynaptic cytosol  
located_in presynaptic cytosol  
located_in stereocilium  
is_active_in synapse  
is_active_in terminal bouton  
Items 1 - 20 of 21

General protein information

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)

  1. NM_001366795.1NP_001353724.1  calbindin isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC004612, AC123779
    Conserved Domains (2) summary
    cd15902
    Location:1644
    EFh_HEF; EF-hand motif [structural motif]
    cl23634
    Location:16234
    EFh_HEF; EF-hand, calcium binding motif, found in the hexa-EF hand proteins family
  2. NM_004929.4NP_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:16259
    EFh_HEF_CB; EF-hand, calcium binding motif, found in calbindin (CB)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    90058608..90082879 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    91182279..91206531 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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