Human Gene CABP1 (ENST00000316803.8) from GENCODE V44
  Description: Homo sapiens calcium binding protein 1 (CABP1), transcript variant 3, mRNA. (from RefSeq NM_001033677)
RefSeq Summary (NM_001033677): 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].
Gencode Transcript: ENST00000316803.8
Gencode Gene: ENSG00000157782.10
Transcript (Including UTRs)
   Position: hg38 chr12:120,640,626-120,667,324 Size: 26,699 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg38 chr12:120,640,686-120,666,900 Size: 26,215 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:120,640,626-120,667,324)mRNA (may differ from genome)Protein (370 aa)
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-  Comments and Description Text from UniProtKB
  ID: CABP1_HUMAN
DESCRIPTION: RecName: Full=Calcium-binding protein 1; Short=CaBP1; AltName: Full=Calbrain; AltName: Full=Caldendrin;
FUNCTION: Modulates calcium-dependent activity of inositol 1,4,5- triphosphate receptors (ITPRs). Inhibits agonist-induced intracellular calcium signaling. Enhances inactivation and does not support calcium-dependent facilitation of voltage-dependent P/Q-type calcium channels. 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 resulting in an opposit effects on channel function. Suppresses the calcium-dependent inactivation of CACNA1D (By similarity). Inhibits TRPC5 channels. Prevents NMDA receptor- induced cellular degeneration (By similarity).
SUBUNIT: 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 and NELF (By similarity).
INTERACTION: Q13936:CACNA1C; NbExp=4; IntAct=EBI-907894, EBI-1038838;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasm, perinuclear region. Cell membrane; Lipid-anchor; Cytoplasmic side. Golgi apparatus. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Note=L-CaBP1 is associated most likely with the cytoskeletal structures, whereas S-CaBP1 is localized at or near the plasma membrane.
SUBCELLULAR LOCATION: Isoform L-CaBP1: Cytoplasm, cytoskeleton. Note=L-CaBP1 is associated most likely with the cytoskeletal structures.
SUBCELLULAR LOCATION: Isoform S-CaBP1: Cytoplasm, cell cortex. Cell membrane; Lipid-anchor (Probable). Note=S-CaBP1 is localized at or near the plasma membrane.
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.
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.
PTM: Phosphorylated. The phosphorylation regulates the activity.
SIMILARITY: Contains 4 EF-hand domains.
CAUTION: The interaction with CACNA1A is described as calcium independent in PubMed:11865310 while it is shown to be acutely calcium dependent in PubMed:14570872. PubMed:12032348 describes a stimulatory effect of CABP1 during agonist-induced intracellular calcium signaling while PubMed:14570872 and PubMed:11865310 show an inhibitory effect.

-  Primer design for this transcript
 

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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 103.32 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 410.40 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -28.3060-0.472 Picture PostScript Text
3' UTR -167.20424-0.394 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018248 - EF-hand
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR002048 - EF_hand_Ca-bd

Pfam Domains:
PF00036 - EF hand

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2K7B - NMR MuPIT 2K7C - NMR MuPIT 2K7D - NMR MuPIT 2LAN - NMR MuPIT 2LAP - NMR MuPIT 3OX5 - X-ray MuPIT 3OX6 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9NZU7
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
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Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004857 enzyme inhibitor activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008139 nuclear localization sequence binding
GO:0046872 metal ion binding
GO:0048306 calcium-dependent protein binding

Biological Process:
GO:0007601 visual perception
GO:0042308 negative regulation of protein import into nucleus
GO:0043086 negative regulation of catalytic activity

Cellular Component:
GO:0000139 Golgi membrane
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005938 cell cortex
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0030054 cell junction
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  BC030201 - Homo sapiens calcium binding protein 1, mRNA (cDNA clone MGC:34675 IMAGE:5200625), complete cds.
AF169148 - Homo sapiens s-CaBP1 (CABP1) mRNA, complete cds.
AF169149 - Homo sapiens L-CaBP1 (CABP1) mRNA, complete cds.
BC015006 - Homo sapiens calcium binding protein 1, mRNA (cDNA clone IMAGE:4857304), with apparent retained intron.
DQ895513 - Synthetic construct Homo sapiens clone IMAGE:100009973; FLH185131.01L; RZPDo839F08145D calcium binding protein 1 (calbrain) (CABP1) gene, encodes complete protein.
EU176343 - Synthetic construct Homo sapiens clone IMAGE:100006452; FLH185138.01X; RZPDo839A09251D calcium binding protein 1 (CABP1) gene, encodes complete protein.
KJ901978 - Synthetic construct Homo sapiens clone ccsbBroadEn_11372 CABP1 gene, encodes complete protein.
AK127203 - Homo sapiens cDNA FLJ45268 fis, clone BRHIP2027685, moderately similar to Mus musculus calcium binding protein 1 (Cabp1).
X94700 - H.sapiens mRNA for calcium binding protein (HCALB_BR).
JD343819 - Sequence 324843 from Patent EP1572962.
JD043793 - Sequence 24817 from Patent EP1572962.
JD507472 - Sequence 488496 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: CABP1_HUMAN, ENST00000316803.1, ENST00000316803.2, ENST00000316803.3, ENST00000316803.4, ENST00000316803.5, ENST00000316803.6, ENST00000316803.7, NM_001033677, O95663, Q8N6H5, Q9NZU7, Q9NZU8, uc001tyu.1, uc001tyu.2, uc001tyu.3, uc001tyu.4, uc001tyu.5
UCSC ID: ENST00000316803.8
RefSeq Accession: NM_001033677
Protein: Q9NZU7 (aka CABP1_HUMAN or CAB1_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.