Aliases for CIB1 Gene
Aliases for CIB1 Gene
External Ids for CIB1 Gene
- HGNC: 16920
- Entrez Gene: 10519
- Ensembl: ENSG00000185043
- OMIM: 602293
- UniProtKB: Q99828
Previous GeneCards Identifiers for CIB1 Gene
- GC15P087395
- GC15M084280
- GC15M088360
- GC15M088503
- GC15M088574
- GC15M090773
- GC15M066885
Summaries for CIB1 Gene
-
This gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including the platelet integrin alpha-IIb-beta-3, DNA-dependent protein kinase, presenilin-2, focal adhesion kinase, p21 activated kinase, and protein kinase D. The encoded protein may be involved in cell survival and proliferation, and is associated with several disease states including cancer and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
GeneCards Summary for CIB1 Gene
CIB1 (Calcium And Integrin Binding 1) is a Protein Coding gene. Diseases associated with CIB1 include Usher Syndrome, Type Ij and Alzheimer Disease. Among its related pathways are MAPK-Erk Pathway and Development Angiotensin activation of ERK. GO annotations related to this gene include calcium ion binding and Ras GTPase binding. An important paralog of this gene is CIB4.
UniProtKB/Swiss-Prot for CIB1 Gene
-
Calcium-binding protein that plays a role in the regulation of numerous cellular processes, such as cell differentiation, cell division, cell proliferation, cell migration, thrombosis, angiogenesis, cardiac hypertrophy and apoptosis. Involved in bone marrow megakaryocyte differentiation by negatively regulating thrombopoietin-mediated signaling pathway. Participates in the endomitotic cell cycle of megakaryocyte, a form of mitosis in which both karyokinesis and cytokinesis are interrupted. Plays a role in integrin signaling by negatively regulating alpha-IIb/beta3 activation in thrombin-stimulated megakaryocytes preventing platelet aggregation. Up-regulates PTK2/FAK1 activity, and is also needed for the recruitment of PTK2/FAK1 to focal adhesions; it thus appears to play an important role in focal adhesion formation. Positively regulates cell migration on fibronectin in a CDC42-dependent manner, the effect being negatively regulated by PAK1. Functions as a negative regulator of stress activated MAP kinase (MAPK) signaling pathways. Down-regulates inositol 1,4,5-trisphosphate receptor-dependent calcium signaling. Involved in sphingosine kinase SPHK1 translocation to the plasma membrane in a N-myristoylation-dependent manner preventing TNF-alpha-induced apoptosis. Regulates serine/threonine-protein kinase PLK3 activity for proper completion of cell division progression. Plays a role in microtubule (MT) dynamics during neuronal development; disrupts the MT depolymerization activity of STMN2 attenuating NGF-induced neurite outgrowth and the MT reorganization at the edge of lamellipodia. Promotes cardiomyocyte hypertrophy via activation of the calcineurin/NFAT signaling pathway. Stimulates calcineurin PPP3R1 activity by mediating its anchoring to the sarcolemma. In ischemia-induced (pathological or adaptive) angiogenesis, stimulates endothelial cell proliferation, migration and microvessel formation by activating the PAK1 and ERK1/ERK2 signaling pathway. Promotes also cancer cell survival and proliferation. May regulate cell cycle and differentiation of spermatogenic germ cells, and/or differentiation of supporting Sertoli cells.
-
Isoform 2: Plays a regulatory role in angiogenesis and tumor growth by mediating PKD/PRKD2-induced vascular endothelial growth factor A (VEGFA) secretion.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CIB1 Gene
Genomics for CIB1 Gene
Regulatory Elements for CIB1 Gene
Enhancers for CIB1 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CIB1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the CIB1 gene promoter:
Regulatory Element Products
Genomic Location for CIB1 Gene
- Chromosome:
- 15
- Start:
- 90,229,975 bp from pter
- End:
- 90,265,759 bp from pter
- Size:
- 35,785 bases
- Orientation:
- Minus strand
Genomic View for CIB1 Gene
Genes around CIB1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q26.1 by Ensembl
- 15q26.1 by Entrez Gene
- 15q26.1 by HGNC
CIB1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CIB1 Gene
Proteins for CIB1 Gene
-
Protein details for CIB1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q99828-CIB1_HUMAN
- Recommended name:
- Calcium and integrin-binding protein 1
- Protein Accession:
- Q99828
- B5BU40
- H6WJF3
- O00693
- O00735
- Q6IB49
- Q96J54
- Q99971
Protein attributes for CIB1 Gene
- Size:
- 191 amino acids
- Molecular mass:
- 21703 Da
- Quaternary structure:
-
- Monomer. Interacts with MYO1C. Interacts (via C-terminal region) with PPP3R1 and CACNA1C; the interactions increase upon cardiomyocytes hypertrophy (By similarity). Interacts with the heterodimeric integrin alpha-IIb/beta3 (ITGA2B-ITGB3). Interacts with ITGA2B (via cytoplasmic domain); the interaction is direct and calcium-dependent. Interacts with the protein kinases PLK2/SNK and PRKDC (via the region immediately upstream of the kinase domain). Interacts with PLK3; the interaction inhibits PLK3 kinase activity. Interacts with PSEN2. Interacts (via C-terminus) with F8. Interacts with NBR1 (via C-terminus). Interacts with FEZ1 (via C-terminus). Interacts with UBR5 (via C-terminus); the interaction is sensitive to DNA damage, and may target CIB1 for ubiquitin-mediated degradation. Interacts with IFI6. Interacts with BCL2. Interacts with ITPR3; the interaction occurs in a calcium-dependent manner. Interacts with PTK2/FAK1. Interacts with MAP3K5; the interaction inhibits MAP3K5 activation by phosphorylation, and its subsequent interaction with TRAF2. Isoform 2 interacts with PRKD2 (via N-terminal AP-rich region), PTK2/FAK1 and PAK1. Interacts with TAS1R2 (via C-terminus); the interaction is independent of the myristoylation state of CIB1. Interacts (via C-terminal region) with STMN2 (via the N-terminal region); the interaction is direct, occurs in a calcium-dependent manner and attenuates the STMN2-induced neurite outgrowth inhibition. Interacts with SPHK1, the interaction occurs in a calcium-dependent manner. Interacts with ITGA2B (via C-terminal cytoplasmic tail); the interaction occurs upon platelet aggregation and is stabilized/increased in a calcium and magnesium-dependent manner. Interacts with PAK1 (via N-terminal region); the interaction is direct and occurs in a calcium-dependent manner. Interacts with RAC3 (via C-terminal region); the interaction induces their association with the cytoskeleton upon alpha-IIb/beta3 integrin-mediated adhesion. Interacts with ITGA5 and ITGAV.
- Miscellaneous:
-
- The binding of either calcium or magnesium significantly increases the structural stability of the protein in comparison to apo-CIB (calcium- and magnesium-free form).
Three dimensional structures from OCA and Proteopedia for CIB1 Gene
Protein Expression for CIB1 Gene
Post-translational modifications for CIB1 Gene
- Phosphorylation of isoform 2 at Ser-78 by PRKD2 increases its ability to stimulate tumor angiogenesis.
- Ubiquitination at Lys10, posLast=2424, Lys65, and posLast=7070
- Modification sites at PhosphoSitePlus
Other Protein References for CIB1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for CIB1
- R&D Systems Antibodies for CIB1 (CIB1)
-
Custom Antibody ServicesOriGene Antibodies for CIB1
- Novus Biologicals Antibodies for CIB1
-
Cloud-Clone Corp. Antibodies for CIB1
- Invitrogen Antibodies for CIB1
- antibodies-online Antibodies for CIB1: See all 641
- GeneTex CIB1 antibody for CIB1
-
Santa Cruz Biotechnology (SCBT) Antibodies for CIB1
Protein Products
-
OriGene Purified Proteins for CIB1
- Search Origene for MassSpec and Protein Over-expression Lysates for CIB1
- Origene Custom Protein Services for CIB1
- ProSpec Recombinant Proteins for CIB1
-
Cloud-Clone Corp. Proteins for CIB1
- antibodies-online Proteins for CIB1: See all 21
- Search antibodies-online for peptides
- Search GeneTex for Proteins for CIB1
Assay Products
- antibodies-online Kits for CIB1: See all 23
No data available for DME Specific Peptides for CIB1 Gene
Domains & Families for CIB1 Gene
Gene Families for CIB1 Gene
Protein Domains for CIB1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CIB1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q99828UniProtKB/Swiss-Prot:
CIB1_HUMAN :- The EF-hands may also bind magnesium ions in the presence of high Mg(2+) levels and low Ca(2+) levels.
- Domain:
-
- The EF-hands may also bind magnesium ions in the presence of high Mg(2+) levels and low Ca(2+) levels.
Function for CIB1 Gene
Molecular function for CIB1 Gene
- UniProtKB/Swiss-Prot Function:
- Calcium-binding protein that plays a role in the regulation of numerous cellular processes, such as cell differentiation, cell division, cell proliferation, cell migration, thrombosis, angiogenesis, cardiac hypertrophy and apoptosis. Involved in bone marrow megakaryocyte differentiation by negatively regulating thrombopoietin-mediated signaling pathway. Participates in the endomitotic cell cycle of megakaryocyte, a form of mitosis in which both karyokinesis and cytokinesis are interrupted. Plays a role in integrin signaling by negatively regulating alpha-IIb/beta3 activation in thrombin-stimulated megakaryocytes preventing platelet aggregation. Up-regulates PTK2/FAK1 activity, and is also needed for the recruitment of PTK2/FAK1 to focal adhesions; it thus appears to play an important role in focal adhesion formation. Positively regulates cell migration on fibronectin in a CDC42-dependent manner, the effect being negatively regulated by PAK1. Functions as a negative regulator of stress activated MAP kinase (MAPK) signaling pathways. Down-regulates inositol 1,4,5-trisphosphate receptor-dependent calcium signaling. Involved in sphingosine kinase SPHK1 translocation to the plasma membrane in a N-myristoylation-dependent manner preventing TNF-alpha-induced apoptosis. Regulates serine/threonine-protein kinase PLK3 activity for proper completion of cell division progression. Plays a role in microtubule (MT) dynamics during neuronal development; disrupts the MT depolymerization activity of STMN2 attenuating NGF-induced neurite outgrowth and the MT reorganization at the edge of lamellipodia. Promotes cardiomyocyte hypertrophy via activation of the calcineurin/NFAT signaling pathway. Stimulates calcineurin PPP3R1 activity by mediating its anchoring to the sarcolemma. In ischemia-induced (pathological or adaptive) angiogenesis, stimulates endothelial cell proliferation, migration and microvessel formation by activating the PAK1 and ERK1/ERK2 signaling pathway. Promotes also cancer cell survival and proliferation. May regulate cell cycle and differentiation of spermatogenic germ cells, and/or differentiation of supporting Sertoli cells.
- UniProtKB/Swiss-Prot Function:
- Isoform 2: Plays a regulatory role in angiogenesis and tumor growth by mediating PKD/PRKD2-induced vascular endothelial growth factor A (VEGFA) secretion.
- UniProtKB/Swiss-Prot Induction:
- Up-regulated during breast cancer progression.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005509 | calcium ion binding | IMP | 15475008 |
| GO:0005515 | protein binding | IPI | 10366599 |
| GO:0008022 | protein C-terminus binding | IEA | -- |
| GO:0008427 | calcium-dependent protein kinase inhibitor activity | IMP | 20473878 |
| GO:0017016 | Ras GTPase binding | IPI | 11756406 |
Phenotypes for CIB1 Gene
- MGI mutant phenotypes for CIB1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CIB1:
Animal Models for CIB1 Gene
- MGI Knock Outs for CIB1:
-
- Cib1 tm1Prse
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CIB1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CIB1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CIB1 gene
- Search ViGene Biosciences for CIB1
CRISPR Products
-
OriGene CRISPR knockouts for CIB1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CIB1
- GenScript: Design CRISPR guide RNA sequences for CIB1
miRNA for CIB1 Gene
- miRTarBase miRNAs that target CIB1
miRNA Products
- Search ViGene Biosciences for CIB1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CIB1
- Browse OriGene Inhibitory RNA Products For CIB1
-
ViGene Biosciences ready-to-package AAV shRNAs for CIB1 gene
Clone Products
- Sino Biological Human cDNA Clone for CIB1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for CIB1
- VectorBuilder custom plasmid, inducible vectors for CIB1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CIB1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for CIB1
-
ViGene Biosciences adenoviral particle packaged cDNA for CIB1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CIB1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CIB1 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CIB1 Gene
Localization for CIB1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CIB1 Gene
- Membrane; Lipid-anchor. Cell membrane, sarcolemma. Cell membrane. Apical cell membrane. Cell projection, ruffle membrane. Cell projection, filopodium tip. Cell projection, growth cone. Cell projection, lamellipodium. Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, perinuclear region. Nucleus. Note=Colocalized with PPP3R1 at the cell membrane of cardiomyocytes in the hypertrophic heart (By similarity). Colocalized with NBR1 to the perinuclear region. Colocalizes with TAS1R2 in apical regions of taste receptor cells. Colocalized with RAC3 in the perinuclear area and at the cell periphery. Colocalized with PAK1 within membrane ruffles during cell spreading upon readhesion to fibronectin. Redistributed to the cytoskeleton upon platelet aggregation. Translocates from the cytosol to the plasma membrane in a calcium-dependent manner. Colocalized with STMN2 in the cell body, neurites and growth cones of neurons. Colocalized with STMN2 to the leading edge of lamellipodia. Colocalized with PLK3 at centrosomes in ductal breast carcinoma cells. {ECO:0000250}.
- Isoform 2: Cytoplasm, perinuclear region. Golgi apparatus, trans-Golgi network.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| cytoskeleton | 5 |
| nucleus | 5 |
| endoplasmic reticulum | 3 |
| golgi apparatus | 3 |
| cytosol | 2 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA,IEA | 11756406 |
| GO:0005654 | nucleoplasm | IMP | 10366599 |
| GO:0005737 | cytoplasm | IMP | 10366599 |
| GO:0005783 | endoplasmic reticulum | IMP | 10366599 |
| GO:0005794 | Golgi apparatus | IEA | -- |
Pathways & Interactions for CIB1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | MAPK-Erk Pathway |
.38
.38
|
|
| 2 | Development Angiotensin activation of ERK | ||
Pathways by source for CIB1 Gene
4 Sino Biological pathways for CIB1 Gene
1 GeneGo (Thomson Reuters) pathway for CIB1 Gene
Interacting Proteins for CIB1 Gene
Selected Interacting proteins:
Q99828-CIB1_HUMAN
ENSP00000333873
for CIB1 Gene via
MINT
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001525 | angiogenesis | IEA | -- |
| GO:0001933 | negative regulation of protein phosphorylation | IEA,ISS | -- |
| GO:0001934 | positive regulation of protein phosphorylation | ISS,IEA | -- |
| GO:0001954 | positive regulation of cell-matrix adhesion | ISS,IEA | -- |
| GO:0002931 | response to ischemia | ISS,IEA | -- |
No data available for SIGNOR curated interactions for CIB1 Gene
Transcripts for CIB1 Gene
mRNA/cDNA for CIB1 Gene
- (3) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (439) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CIB1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CIB1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CIB1
- GenScript: Design CRISPR guide RNA sequences for CIB1
miRNA Products
- Search ViGene Biosciences for CIB1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CIB1
- Browse OriGene Inhibitory RNA Products For CIB1
-
ViGene Biosciences ready-to-package AAV shRNAs for CIB1 gene
Clone Products
- Sino Biological Human cDNA Clone for CIB1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for CIB1
- VectorBuilder custom plasmid, inducible vectors for CIB1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CIB1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d | · | 7e | ^ | 8a | · | 8b | · | 8c | · | 8d | · | 8e |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | |||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | |||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
| SP8: | - | ||||||||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||||||||||||
| SP12: | - |
Expression for CIB1 Gene
This gene is overexpressed in Bone (10.3), Cervix (9.8), Peripheral blood mononuclear cells (9.4), and Milk (8.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CIB1 Gene
NURSA nuclear receptor signaling pathways regulating expression of CIB1 Gene:
CIB1SOURCE GeneReport for Unigene cluster for CIB1 Gene:
Hs.715556mRNA Expression by UniProt/SwissProt for CIB1 Gene:
Q99828-CIB1_HUMAN
Tissue specificity:
Detected in platelets and in cell lines of megakaryocytic and erythrocytic lineages. Both isoform 1 and isoform 2 are detected in various cancer cell lines, with isoform 2 being the predominant form (at protein level). Ubiquitously expressed.
Evidence on tissue expression from TISSUES for CIB1 Gene
- Nervous system(4.9)
- Lung(3.5)
- Pancreas(3.4)
- Intestine(2.4)
- Heart(2.2)
- Muscle(2.2)
- Liver(2)
Primer Products
-
OriGene qPCR primer pairs and template standards for CIB1
-
OriGene qPCR primer pairs for CIB1
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CIB1 Gene
Orthologs for CIB1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CIB1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | CIB1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | CIB1 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cib1 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Cib1 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CIB1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CIB1 34 35 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cib1 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.13909 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cib1 35 |
|
OneToOne | |
| LOC100536377 34 |
|
||||
| wufc44f06 34 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.2005 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008474 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG32812 35 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CNB1 35 |
|
OneToMany |
- Species where no ortholog for CIB1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- 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)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- 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)
- worm (Caenorhabditis elegans)
Paralogs for CIB1 Gene
Variants for CIB1 Gene
| SNP ID | Clin | Chr 15 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000076565 | -- | 90,233,564(+) | CGCTC(C/G)TCTGC | intron-variant, upstream-variant-2KB | |
| rs1000076592 | -- | 90,257,050(+) | ATTCA(A/G)TTAGC | intron-variant | |
| rs1000127743 | -- | 90,261,675(+) | CTTGG(G/T)AGGCT | intron-variant | |
| rs1000258463 | -- | 90,250,306(+) | AAAGA(A/G)CCATG | intron-variant | |
| rs1000472786 | -- | 90,234,979(+) | ATTAT(A/G)CTTGC | intron-variant, upstream-variant-2KB |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv112e55 | CNV | gain | 17911159 |
| esv2663301 | CNV | deletion | 23128226 |
| esv2751541 | CNV | gain | 17911159 |
| esv2760054 | CNV | gain | 17122850 |
| esv3194606 | CNV | deletion | 24192839 |
| esv3552835 | CNV | deletion | 23714750 |
| esv3637214 | CNV | gain | 21293372 |
| esv3637215 | CNV | loss | 21293372 |
| esv3637216 | CNV | gain | 21293372 |
| esv3637217 | CNV | loss | 21293372 |
| esv3637218 | CNV | gain | 21293372 |
| nsv1052652 | CNV | gain | 25217958 |
| nsv1122992 | CNV | deletion | 24896259 |
| nsv442384 | CNV | gain | 18776908 |
| nsv817707 | CNV | gain | 17921354 |
| nsv833087 | CNV | loss | 17160897 |
| nsv9296 | CNV | loss | 18304495 |
| nsv94314 | CNV | deletion | 16902084 |
| nsv94838 | CNV | deletion | 16902084 |
Residual Variation Intolerance Score:
61.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.13;
22.92% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for CIB1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- CIB1
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CIB1 Gene
Disorders for CIB1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| usher syndrome, type ij |
|
|
| alzheimer disease |
|
|
| deafness, autosomal recessive 48 |
|
|
| usher syndrome, type 1b |
|
|
Search CIB1 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for CIB1
No data available for UniProtKB/Swiss-Prot and Genatlas for CIB1 Gene
Publications for CIB1 Gene
- Genomic structure of mouse and human genes for DNA-PKcs interacting protein (KIP). (PMID: 10826701) Hattori A. … Saito T. (DNA Seq. 2000) 2 3 4 22 64
- Auxiliary Ca2+ binding sites can influence the structure of CIB1. (PMID: 19388079) Yamniuk A.P. … Vogel H.J. (Protein Sci. 2009) 3 4 22 64
- Sweet taste receptor interacting protein CIB1 is a general inhibitor of InsP3-dependent Ca2+ release in vivo. (PMID: 18627437) Hennigs J.K. … Schmale H. (J. Neurochem. 2008) 3 4 22 64
- CIB1, a ubiquitously expressed Ca2+-binding protein ligand of the InsP3 receptor Ca2+ release channel. (PMID: 16723353) White C. … Foskett J.K. (J. Biol. Chem. 2006) 3 4 22 64
- Calcium-binding calmyrin forms stable covalent dimers in vitro, but in vivo is found in monomeric form. (PMID: 15933764) Sobczak A. … Wojda U. (Acta Biochim. Pol. 2005) 3 4 22 64
Products for CIB1 Gene
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