Calcium binding proteins are an important component of calcium mediated cellular signal transduction. This gene encodes a protein that belongs to a subfamily of calcium binding proteins which share similarity to calmodulin. The protein encoded by this gene regulates the gating of voltage-gated calcium ion channels. This protein inhibits calcium-dependent inactivation and suppor... See more...

Aliases for CABP1 Gene

Aliases for CABP1 Gene

  • Calcium Binding Protein 1 2 3 5
  • Caldendrin 2 3 4
  • Calcium-Binding Protein 1 3 4
  • Calbrain 2 4
  • Calcium Binding Protein 5 3
  • CALBRAIN 3
  • HCALB_BR 3
  • CaBP1 4

External Ids for CABP1 Gene

Previous GeneCards Identifiers for CABP1 Gene

  • GC12M120133
  • GC12P120861
  • GC12P119490
  • GC12P119541
  • GC12P121078
  • GC12P118087

Summaries for CABP1 Gene

Entrez Gene Summary for CABP1 Gene

  • Calcium binding proteins are an important component of calcium mediated cellular signal transduction. This gene encodes a protein that belongs to a subfamily of calcium binding proteins which share similarity to calmodulin. The protein encoded by this gene regulates the gating of voltage-gated calcium ion channels. This protein inhibits calcium-dependent inactivation and supports calcium-dependent facilitation of ion channels containing voltage-dependent L-type calcium channel subunit alpha-1C. This protein also regulates calcium-dependent activity of inositol 1,4,5-triphosphate receptors, P/Q-type voltage-gated calcium channels, and transient receptor potential channel TRPC5. This gene is predominantly expressed in retina and brain. Alternative splicing results in multiple transcript variants encoding disinct isoforms. [provided by RefSeq, Jul 2012]

GeneCards Summary for CABP1 Gene

CABP1 (Calcium Binding Protein 1) is a Protein Coding gene. Diseases associated with CABP1 include Tinea Nigra and Blastomycosis. Among its related pathways are Visual Cycle in Retinal Rods. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein domain specific binding. An important paralog of this gene is CABP2.

UniProtKB/Swiss-Prot Summary for CABP1 Gene

  • Modulates calcium-dependent activity of inositol 1,4,5-triphosphate receptors (ITPRs)(PubMed:14570872). Inhibits agonist-induced intracellular calcium signaling (PubMed:15980432). Enhances inactivation and does not support calcium-dependent facilitation of voltage-dependent P/Q-type calcium channels (PubMed:11865310). Causes calcium-dependent facilitation and inhibits inactivation of L-type calcium channels by binding to the same sites as calmodulin in the C-terminal domain of CACNA1C, but has an opposite effect on channel function (PubMed:15140941). Suppresses the calcium-dependent inactivation of CACNA1D (By similarity). Inhibits TRPC5 channels (PubMed:15895247). Prevents NMDA receptor-induced cellular degeneration. Required for the normal transfer of light signals through the retina (By similarity).

Additional gene information for CABP1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CABP1 Gene

Genomics for CABP1 Gene

GeneHancer (GH) Regulatory Elements for CABP1 Gene

Promoters and enhancers for CABP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J120640 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 500.7 +0.3 349 2.2 CTCF SIN3A USF1 ZFX ZNF10 ZIC2 REST ZBTB10 ZNF263 ZNF423 CABP1 ENSG00000256008 LOC101928300 KDM2B-DT ACADS
GH12J120651 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 506 +10.2 10249 1.6 ZNF341 EZH2 HDGF BHLHE40 GATA2 ZSCAN4 MLLT1 PRDM1 CABP1 GATC COQ5 SPPL3 C12orf43 PRKAB1 ENSG00000256008 LOC105370029
GH12J120533 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 13 -103.3 -103259 7.1 FOXK2 ZNF217 EP300 SIN3A NRF1 USF1 POLR2G GTF2E2 PHF8 JUND RNF10 COQ5 GATC RPL31P52 GCN1 CABP1 POP5 TRIAP1 ENSG00000111780 SPPL3
GH12J121202 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.9 +562.1 562149 1.8 PHB2 ZNF639 ZNF423 AFF1 TRIM28 RFX1 HES1 KLF7 CTBP1 ATF2 P2RX4 CABP1 C12orf43 piR-50444-089 LOC105370032 lnc-CAMKK2-6 ENSG00000286248 lnc-CAMKK2-1
GH12J120598 Enhancer 1.1 FANTOM5 Ensembl ENCODE 13.7 -39.3 -39251 5.8 ZSCAN5C USF1 ZIC2 RBM25 MAX FOSL2 SPI1 NFE2 FOSL1 ZFHX2 COQ5 GATC CABP1 ENSG00000256008 MLEC UNC119B C12orf43 ACADS ENSG00000256569 ENSG00000256364
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CABP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CABP1

Top Transcription factor binding sites by QIAGEN in the CABP1 gene promoter:
  • AP-4
  • E47
  • HSF1 (long)
  • HSF1short
  • ITF-2
  • Nkx2-5
  • RSRFC4
  • Tal-1
  • Tal-1beta

Genomic Locations for CABP1 Gene

Genomic Locations for CABP1 Gene
chr12:120,640,552-120,667,324
(GRCh38/hg38)
Size:
26,773 bases
Orientation:
Plus strand
chr12:121,078,355-121,105,127
(GRCh37/hg19)
Size:
26,773 bases
Orientation:
Plus strand

Genomic View for CABP1 Gene

Genes around CABP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CABP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CABP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CABP1 Gene

Proteins for CABP1 Gene

  • Protein details for CABP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZU7-CABP1_HUMAN
    Recommended name:
    Calcium-binding protein 1
    Protein Accession:
    Q9NZU7
    Secondary Accessions:
    • O95663
    • Q8N6H5
    • Q9NZU8

    Protein attributes for CABP1 Gene

    Size:
    370 amino acids
    Molecular mass:
    39838 Da
    Quaternary structure:
    • Homodimer; when bound to calcium or magnesium. Interacts (via C-terminus) with ITPR1, ITPR2 and ITPR3. This binding is calcium dependent and the interaction correlates with calcium concentration. An additional calcium-independent interaction with the N-terminus of ITPR1 results in a decreased InsP(3) binding to the receptor. Interacts with CACNA1A (via C-terminal CDB motif) in the pre- and postsynaptic membranes. Interacts with CACNA1C (via C-terminal C and IQ motifs). The binding to the C motif is calcium independent whereas the binding to IQ requires the presence of calcium and is mutually exclusive with calmodulin binding. Interacts with CACNA1D (By similarity). Interacts with TRPC5 (via C-terminus). Interacts (via EF-hands 1 and 2) at microtubules with MAP1LC3B. Interacts with MYO1C (By similarity). Interacts (via EF-hands 1 and 2) with NSMF (via the central NLS-containing motif region), the interaction occurs in a calcium dependent manner after synaptic NMDA receptor stimulation and prevents nuclear import of NSMF. Interacts with SPACA9 (By similarity).
    Miscellaneous:
    • [Isoform Calbrain]: It is currently uncertain whether calbrain represent a spliced isoform.

    Three dimensional structures from OCA and Proteopedia for CABP1 Gene

    Alternative splice isoforms for CABP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CABP1 Gene

Post-translational modifications for CABP1 Gene

  • Phosphorylated. The phosphorylation regulates the activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CABP1 Gene

Domains & Families for CABP1 Gene

Gene Families for CABP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CABP1 Gene

Suggested Antigen Peptide Sequences for CABP1 Gene

GenScript: Design optimal peptide antigens:
  • Caldendrin (CABP1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NZU7

UniProtKB/Swiss-Prot:

CABP1_HUMAN :
  • EF-1 binds magnesium constitutively under physiological conditions, EF-3 and EF-4 bind calcium cooperatively and EF-2 binds neither calcium nor magnesium.
Domain:
  • EF-1 binds magnesium constitutively under physiological conditions, EF-3 and EF-4 bind calcium cooperatively and EF-2 binds neither calcium nor magnesium.
genes like me logo Genes that share domains with CABP1: view

Function for CABP1 Gene

Molecular function for CABP1 Gene

UniProtKB/Swiss-Prot Function:
Modulates calcium-dependent activity of inositol 1,4,5-triphosphate receptors (ITPRs)(PubMed:14570872). Inhibits agonist-induced intracellular calcium signaling (PubMed:15980432). Enhances inactivation and does not support calcium-dependent facilitation of voltage-dependent P/Q-type calcium channels (PubMed:11865310). Causes calcium-dependent facilitation and inhibits inactivation of L-type calcium channels by binding to the same sites as calmodulin in the C-terminal domain of CACNA1C, but has an opposite effect on channel function (PubMed:15140941). Suppresses the calcium-dependent inactivation of CACNA1D (By similarity). Inhibits TRPC5 channels (PubMed:15895247). Prevents NMDA receptor-induced cellular degeneration. Required for the normal transfer of light signals through the retina (By similarity).

Phenotypes From GWAS Catalog for CABP1 Gene

Gene Ontology (GO) - Molecular Function for CABP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004857 enzyme inhibitor activity TAS 9920909
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 15140941
GO:0008139 nuclear localization sequence binding ISS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CABP1: view
genes like me logo Genes that share phenotypes with CABP1: view

Animal Model Products

miRNA for CABP1 Gene

miRTarBase miRNAs that target CABP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CABP1 Gene

Localization for CABP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CABP1 Gene

Cytoplasm, cytoskeleton. Cytoplasm, perinuclear region. Cell membrane; Lipid-anchor; Cytoplasmic side. Golgi apparatus. Cell junction, synapse, postsynaptic density. Note=L-CaBP1 is associated most likely with the cytoskeletal structures, whereas S-CaBP1 is localized at or near the plasma membrane. {ECO:0000269 PubMed:10625670}.
[Isoform L-CaBP1]: Cytoplasm, cytoskeleton. Note=L-CaBP1 is associated most likely with the cytoskeletal structures. {ECO:0000269 PubMed:10625670}.
[Isoform S-CaBP1]: Cytoplasm, cell cortex. Cell membrane; Lipid-anchor. Note=S-CaBP1 is localized at or near the plasma membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CABP1 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 5
cytoskeleton 4
cytosol 3
mitochondrion 2
nucleus 2
extracellular 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CABP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IDA 19338761
GO:0005615 extracellular space HDA 22664934
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with CABP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CABP1 Gene

Pathways & Interactions for CABP1 Gene

PathCards logo

SuperPathways for CABP1 Gene

SuperPathway Contained pathways
1 Visual Cycle in Retinal Rods
-
genes like me logo Genes that share pathways with CABP1: view

Pathways by source for CABP1 Gene

1 Qiagen pathway for CABP1 Gene
  • Visual Cycle in Retinal Rods

Gene Ontology (GO) - Biological Process for CABP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception ISS --
GO:0042308 negative regulation of protein import into nucleus ISS --
GO:0043086 negative regulation of catalytic activity IEA --
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with CABP1: view

No data available for SIGNOR curated interactions for CABP1 Gene

Drugs & Compounds for CABP1 Gene

(1) Drugs for CABP1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for CABP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CABP1: view

Transcripts for CABP1 Gene

mRNA/cDNA for CABP1 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CABP1 Gene

No ASD Table

Relevant External Links for CABP1 Gene

GeneLoc Exon Structure for
CABP1

Expression for CABP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CABP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CABP1 Gene

This gene is overexpressed in Brain - Cortex (x12.8), Brain - Frontal Cortex (BA9) (x11.6), and Brain - Anterior cingulate cortex (BA24) (x8.1).

Protein differential expression in normal tissues from HIPED for CABP1 Gene

This gene is overexpressed in Ovary (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CABP1 Gene



Protein tissue co-expression partners for CABP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CABP1

SOURCE GeneReport for Unigene cluster for CABP1 Gene:

Hs.458482

mRNA Expression by UniProt/SwissProt for CABP1 Gene:

Q9NZU7-CABP1_HUMAN
Tissue specificity: Retina and brain. Somatodendritic compartment of neurons. Calbrain was found exclusively in brain where it is abundant in the hippocampus, habenular area in the epithalamus and in the cerebellum.

Evidence on tissue expression from TISSUES for CABP1 Gene

  • Nervous system(4.8)
  • Eye(4.3)
genes like me logo Genes that share expression patterns with CABP1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CABP1 Gene

Orthologs for CABP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CABP1 Gene

Organism Taxonomy Gene Similarity Type Details
rat
(Rattus norvegicus)
Mammalia Cabp1 30
  • 89.14 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CABP1 31
  • 79 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CABP1 31
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CABP1 31
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cabp1 31
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CABP1 31
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CABP1 31
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves CABP1 31
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CABP1 31
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.12710 30
zebrafish
(Danio rerio)
Actinopterygii cabp1a 31 30
  • 77.41 (n)
OneToMany
cabp1b 31
  • 61 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG11638 31
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cal-8 31
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10975 31
  • 31 (a)
ManyToMany
Species where no ortholog for CABP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CABP1 Gene

ENSEMBL:
Gene Tree for CABP1 (if available)
TreeFam:
Gene Tree for CABP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CABP1: view image

Paralogs for CABP1 Gene

(18) SIMAP similar genes for CABP1 Gene using alignment to 2 proteins:

  • CABP1_HUMAN
  • C9J8G2_HUMAN
genes like me logo Genes that share paralogs with CABP1: view

Variants for CABP1 Gene

Additional dbSNP identifiers (rs#s) for CABP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for CABP1 Gene

Variant ID Type Subtype PubMed ID
dgv880n106 CNV deletion 24896259
nsv1045923 CNV gain 25217958
nsv1069703 CNV deletion 25765185
nsv521928 CNV gain 19592680

Variation tolerance for CABP1 Gene

Residual Variation Intolerance Score: 42.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.37; 8.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CABP1 Gene

Human Gene Mutation Database (HGMD)
CABP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CABP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CABP1 Gene

Disorders for CABP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CABP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
tinea nigra
  • infection by cladosporium werneckii
blastomycosis
  • blastomyces dermatitidis infection
- elite association - COSMIC cancer census association via MalaCards
Search CABP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CABP1

genes like me logo Genes that share disorders with CABP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CABP1 Gene

Publications for CABP1 Gene

  1. Structural insights into Ca2+-dependent regulation of inositol 1,4,5-trisphosphate receptors by CaBP1. (PMID: 19008222) Li C … Ames JB (The Journal of biological chemistry 2009) 3 4 23 54
  2. Molecular mechanism for divergent regulation of Cav1.2 Ca2+ channels by calmodulin and Ca2+-binding protein-1. (PMID: 15980432) Zhou H … Lee A (The Journal of biological chemistry 2005) 3 4 23 54
  3. Calcium-binding protein 1 is an inhibitor of agonist-evoked, inositol 1,4,5-trisphosphate-mediated calcium signaling. (PMID: 14570872) Haynes LP … Burgoyne RD (The Journal of biological chemistry 2004) 3 4 23 54
  4. Differential modulation of Ca(v)2.1 channels by calmodulin and Ca2+-binding protein 1. (PMID: 11865310) Lee A … Catterall WA (Nature neuroscience 2002) 3 4 23 54
  5. Five members of a novel Ca(2+)-binding protein (CABP) subfamily with similarity to calmodulin. (PMID: 10625670) Haeseleer F … Palczewski K (The Journal of biological chemistry 2000) 2 3 4 54

Products for CABP1 Gene

Sources for CABP1 Gene