Q9NPB3 · CABP2_HUMAN
- ProteinCalcium-binding protein 2
- GeneCABP2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids220 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Required for sound encoding at inner hair cells (IHCs) synapses, likely via inhibition of the inactivation of voltage-gated calcium channel of type 1.3 (Cav1.3) in the IHCs (PubMed:28183797).
Required for the normal transfer of light signals through the retina (By similarity).
Required for the normal transfer of light signals through the retina (By similarity).
Features
Showing features for binding site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Binding site | 91 | Ca2+ 1 (UniProtKB | ChEBI) | ||||
Sequence: D | ||||||
Binding site | 93 | Ca2+ 1 (UniProtKB | ChEBI) | ||||
Sequence: D | ||||||
Binding site | 95 | Ca2+ 1 (UniProtKB | ChEBI) | ||||
Sequence: D | ||||||
Binding site | 97 | Ca2+ 1 (UniProtKB | ChEBI) | ||||
Sequence: Y | ||||||
Binding site | 102 | Ca2+ 1 (UniProtKB | ChEBI) | ||||
Sequence: E | ||||||
Binding site | 165 | Ca2+ 2 (UniProtKB | ChEBI) | ||||
Sequence: D | ||||||
Binding site | 167 | Ca2+ 2 (UniProtKB | ChEBI) | ||||
Sequence: N | ||||||
Binding site | 169 | Ca2+ 2 (UniProtKB | ChEBI) | ||||
Sequence: D | ||||||
Binding site | 171 | Ca2+ 2 (UniProtKB | ChEBI) | ||||
Sequence: R | ||||||
Binding site | 176 | Ca2+ 2 (UniProtKB | ChEBI) | ||||
Sequence: E | ||||||
Binding site | 202 | Ca2+ 3 (UniProtKB | ChEBI) | ||||
Sequence: D | ||||||
Binding site | 204 | Ca2+ 3 (UniProtKB | ChEBI) | ||||
Sequence: N | ||||||
Binding site | 206 | Ca2+ 3 (UniProtKB | ChEBI) | ||||
Sequence: D | ||||||
Binding site | 213 | Ca2+ 3 (UniProtKB | ChEBI) | ||||
Sequence: E |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | cytoplasm | |
Cellular Component | Golgi apparatus | |
Cellular Component | perinuclear region of cytoplasm | |
Cellular Component | plasma membrane | |
Molecular Function | calcium channel regulator activity | |
Molecular Function | calcium ion binding | |
Biological Process | sensory perception of sound | |
Biological Process | signal transduction | |
Biological Process | visual perception |
Keywords
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameCalcium-binding protein 2
- Short namesCaBP2
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9NPB3
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Deafness, autosomal recessive, 93 (DFNB93)
- Note
- DescriptionA form of non-syndromic deafness characterized by stable, bilateral, symmetric, prelingual moderate to severe deafness. Hearing impairment is slightly more pronounced in the mid-frequencies, resulting in a distinctive shallow U-shaped audiogram.
- See alsoMIM:614899
Natural variants in DFNB93
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_080405 | 156-216 | missing | in DFNB93 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_063087 | 94 | in dbSNP:rs2276118 | |||
Sequence: R → Q | ||||||
Natural variant | VAR_080405 | 156-216 | in DFNB93 | |||
Sequence: Missing |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 308 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for initiator methionine, lipidation, chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Initiator methionine | 1 | Removed | ||||
Sequence: M | ||||||
Lipidation | 2 | N-myristoyl glycine | ||||
Sequence: G | ||||||
Chain | PRO_0000073517 | 2-220 | Calcium-binding protein 2 | |||
Sequence: GNCAKRPWRRGPKDPLQWLGSPPRGSCPSPSSSPKEQGDPAPGVQGYSVLNSLVGPACIFLRPSIAATQLDRELRPEEIEELQVAFQEFDRDRDGYIGCRELGACMRTLGYMPTEMELIEISQQISGGKVDFEDFVELMGPKLLAETADMIGVRELRDAFREFDTNGDGRISVGELRAALKALLGERLSQREVDEILQDVDLNGDGLVDFEEFVRMMSR |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, compositional bias, domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-45 | Disordered | ||||
Sequence: MGNCAKRPWRRGPKDPLQWLGSPPRGSCPSPSSSPKEQGDPAPGV | ||||||
Compositional bias | 25-39 | Polar residues | ||||
Sequence: RGSCPSPSSSPKEQG | ||||||
Domain | 78-113 | EF-hand 1 | ||||
Sequence: EEIEELQVAFQEFDRDRDGYIGCRELGACMRTLGYM | ||||||
Domain | 129-146 | EF-hand 2 | ||||
Sequence: GKVDFEDFVELMGPKLLA | ||||||
Domain | 152-187 | EF-hand 3 | ||||
Sequence: IGVRELRDAFREFDTNGDGRISVGELRAALKALLGE | ||||||
Domain | 189-220 | EF-hand 4 | ||||
Sequence: LSQREVDEILQDVDLNGDGLVDFEEFVRMMSR |
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q9NPB3-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- NameL-CaBP2
- Length220
- Mass (Da)24,482
- Last updated2010-04-20 v4
- Checksum9A0F0E7358A44F3A
Q9NPB3-2
- NameS-CaBP2
- Differences from canonical
- 15-71: Missing
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A1B0GW24 | A0A1B0GW24_HUMAN | CABP2 | 204 | ||
F5H458 | F5H458_HUMAN | CABP2 | 72 |
Features
Showing features for alternative sequence, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_000734 | 15-71 | in isoform S-CaBP2 | |||
Sequence: Missing | ||||||
Compositional bias | 25-39 | Polar residues | ||||
Sequence: RGSCPSPSSSPKEQG |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF170811 EMBL· GenBank· DDBJ | AAF26283.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF169154 EMBL· GenBank· DDBJ | AAF25788.1 EMBL· GenBank· DDBJ | mRNA | ||
AP001184 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. |