HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CABP1
calcium binding protein 1
Chromosome 12 · 12q24.31
NCBI Gene: 9478Ensembl: ENSG00000157782.10HGNC: HGNC:1384UniProt: C9J8G2
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
postsynaptic densityGO:0005615protein bindingcalcium-dependent protein bindingsmoking initiationsmoking behaviortype 2 diabetes mellitussubstance abuse
✦AI Summary

CABP1 (calcium binding protein 1) is a neuronal EF-hand calcium sensor protein that modulates voltage-gated calcium channel activity through competitive binding with calmodulin. The protein binds constitutively to Mg2+ at EF-1 with Kd ~300 μM and cooperatively to Ca2+ at EF-3 and EF-4 with Kd ~2.5 μM 1. CABP1 exhibits opposite effects to calmodulin on L-type calcium channels by binding to the same IQ domain: it prevents calcium-dependent inactivation (CDI) and promotes calcium-dependent facilitation (CDF), allowing sustained calcium influx 23. The mechanism involves direct competition between apo-state CABP1 and calmodulin for the channel IQ domain, with their relative binding affinities determining channel behavior 3. CABP1 also regulates voltage-dependent activation and inactivation through interactions with both N- and C-terminal domains of CaV1.2 channels 4. Additionally, CABP1 inhibits TRPC5 channels and modulates other calcium signaling pathways 5. The protein undergoes distinct conformational changes upon Ca2+ and Mg2+ binding, switching between structurally different states that serve distinct regulatory functions 16. Variants in CABP1 have been identified as potential candidates for human genetic disorders 7.

Sources cited
1
CABP1 binds Mg2+ at EF-1 with Kd ~300 μM and Ca2+ cooperatively at EF-3 and EF-4 with Kd ~2.5 μM, undergoes conformational changes upon metal binding
PMID: 16147998
2
CABP1 inhibits Ca2+-dependent inactivation and introduces calcium-dependent facilitation in CaV1.2 channels through N-lobe and interlobe interactions
PMID: 21134641
3
CABP1 competes directly with calmodulin for the IQ domain through apo-state binding affinities, determining channel calcium-dependent properties
PMID: 23811053
4
CABP1 regulates voltage-dependent activation and inactivation through interactions with N- and C-terminal domains of CaV1.2
PMID: 21383011
5
CABP1 is a protein partner that inhibits TRPC5 channels
PMID: 17217053
6
CABP1 switches between structurally distinct Mg2+- and Ca2+-bound states with different conformational properties
PMID: 25058677
7
CABP1 variants identified as potential candidates for human genetic disorders
PMID: 28600779
Disease Associationsⓘ20
smoking initiationOpen Targets
0.39Weak
smoking behaviorOpen Targets
0.30Weak
type 2 diabetes mellitusOpen Targets
0.29Weak
attention deficit hyperactivity disorderOpen Targets
0.18Weak
substance abuseOpen Targets
0.18Weak
iron metabolism diseaseOpen Targets
0.09Suggestive
mental or behavioural disorderOpen Targets
0.08Suggestive
glioblastoma multiformeOpen Targets
0.05Suggestive
central nervous system cancerOpen Targets
0.04Suggestive
Ichthyosis - hepatosplenomegaly - cerebellar degenerationOpen Targets
0.04Suggestive
ichthyosis-hepatosplenomegaly-cerebellar degeneration syndromeOpen Targets
0.04Suggestive
medulloblastomaOpen Targets
0.04Suggestive
neutropenia, severe congenital, 2, autosomal dominantOpen Targets
0.03Suggestive
hereditary neutrophiliaOpen Targets
0.03Suggestive
autoimmune lymphoproliferative syndrome type 4Open Targets
0.03Suggestive
RAS-associated autoimmune leukoproliferative diseaseOpen Targets
0.03Suggestive
neutropenia, severe congenital, 1, autosomal dominantOpen Targets
0.03Suggestive
neutropenia, severe congenital, 10, autosomal recessiveOpen Targets
0.03Suggestive
trimethylaminuriaOpen Targets
0.03Suggestive
Recurrent infection due to specific granule deficiencyOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GUCA1AProtein interaction79%CACNA1AProtein interaction79%GRK5Protein interaction75%CABP5Shared pathway67%CABP4Shared pathway50%CABP2Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Heart
17%
Ovary
3%
Lung
1%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CABP1GUCA1ACACNA1AGRK5CABP5CABP4CABP2
PROTEIN STRUCTURE
Preparing viewer…
PDB3OX6 · 2.40 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.96LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.62 [0.41–0.96]
RankingsWhere CABP1 stands among ~20K protein-coding genes
  • #11,868of 20,598
    Most Researched30
  • #9,022of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedCABP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet · 2017
1.00
2
L-Type Ca
PMID: 34944455
Biomolecules · 2021
0.90
3
Molecular dynamics of the neuronal EF-hand Ca2+-sensor Caldendrin.
PMID: 25058677
PLoS One · 2014
0.80
4
Structural basis for the differential effects of CaBP1 and calmodulin on Ca(V)1.2 calcium-dependent inactivation.
PMID: 21134641
Structure · 2010
0.70
5
Canonical transient receptor potential 5.
PMID: 17217053
Handb Exp Pharmacol · 2007
0.60