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Aliases for CIB1 Gene

Aliases for CIB1 Gene

  • Calcium And Integrin Binding 1 2 3 5
  • DNA-PKcs-Interacting Protein 3 4
  • SNK-Interacting Protein 2-28 3 4
  • Calmyrin 2 4
  • PRKDCIP 3 4
  • SIP2-28 3 4
  • CIBP 3 4
  • CIB 3 4
  • DNA-Dependent Protein Kinase Interacting Protein 3
  • Calcium And Integrin Binding 1 (Calmyrin) 3
  • Calcium And Integrin-Binding Protein 1 3
  • Calcium- And Integrin-Binding Protein 4
  • Testicular Secretory Protein Li 9 3
  • DNA-PK Interaction Protein 3
  • Kinase-Interacting Protein 4
  • KIP1 3
  • KIP 4

External Ids for CIB1 Gene

Previous GeneCards Identifiers for CIB1 Gene

  • GC15P087395
  • GC15M084280
  • GC15M088360
  • GC15M088503
  • GC15M088574
  • GC15M090773
  • GC15M066885

Summaries for CIB1 Gene

Entrez Gene Summary 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 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.

Gene Wiki entry for CIB1 Gene

No data available for 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
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F090229 1.1 ENCODE 36.4 +33.5 33454 6.1 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 FOS CIB1 PIR48569 RPS12P26
GH15F090157 1.7 FANTOM5 Ensembl ENCODE 20.7 +102.2 102227 12.3 HDGF PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A YBX1 FEZF1 DMAP1 CIB1 ENSG00000228998 LOC100631255 ENSG00000259314 POLG SEMA4B GDPGP1 NGRN NIFKP5 ENSG00000259212
GH15F090209 1.5 FANTOM5 Ensembl ENCODE 13.1 +53.3 53273 5.9 TBP FEZF1 RAD21 ZNF121 GATA2 SCRT2 ZNF143 ETV6 FOS CREM SEMA4B CIB1 GDPGP1 IDH2 NGRN IQGAP1 ENSG00000228998 TTLL13P RPS12P26 PIR48569
GH15F090186 1 ENCODE 19.6 +74.4 74424 8.7 HDGF PKNOX1 WRNIP1 ARID4B YY1 GLIS2 GATA2 FOS SP5 NFYC SEMA4B CIB1 GDPGP1 NGRN IDH2 LOC105370969 TTLL13P GC15M090188 RPS12P26
GH15F090248 1 ENCODE 19.2 +16.3 16331 1.1 PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 ZNF48 YY1 ZNF121 GLIS2 SP3 TTLL13P CIB1 ENSG00000228998 NIFKP5 ENSG00000270322 GC15P090245
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CIB1 on UCSC Golden Path with GeneCards custom track

Promoters for CIB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001455082 -341 2201 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 KLF13
ENSR00001798050 -1741 201

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:
CIB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CIB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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

    Alternative splice isoforms for CIB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry 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 Lys 10, Lys 24, Lys 65, and Lys 70
  • Modification sites at PhosphoSitePlus

Other Protein References for CIB1 Gene

Antibody Products

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

Suggested Antigen Peptide Sequences for CIB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q99828

UniProtKB/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.
  • Contains 2 EF-hand domains.
genes like me logo Genes that share domains with CIB1: view

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.

Gene Ontology (GO) - Molecular Function for CIB1 Gene

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
genes like me logo Genes that share ontologies with CIB1: view
genes like me logo Genes that share phenotypes with CIB1: view

Animal Models for CIB1 Gene

MGI Knock Outs for CIB1:

Animal Model Products

miRNA for CIB1 Gene

miRTarBase miRNAs that target CIB1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CIB1

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.

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 CIB1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
nucleus 5
endoplasmic reticulum 3
golgi apparatus 3
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CIB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 11756406
GO:0005654 nucleoplasm IMP 10366599
GO:0005737 cytoplasm IMP 10366599
GO:0005783 endoplasmic reticulum IMP 10366599
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with CIB1: view

Pathways & Interactions for CIB1 Gene

genes like me logo Genes that share pathways with CIB1: view

Pathways by source for CIB1 Gene

1 GeneGo (Thomson Reuters) pathway for CIB1 Gene

Gene Ontology (GO) - Biological Process for CIB1 Gene

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 IEA,ISS --
GO:0001954 positive regulation of cell-matrix adhesion IEA,ISS --
GO:0002931 response to ischemia IEA,ISS --
genes like me logo Genes that share ontologies with CIB1: view

No data available for SIGNOR curated interactions for CIB1 Gene

Drugs & Compounds for CIB1 Gene

(6) Drugs for CIB1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for CIB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CIB1: view

Transcripts for CIB1 Gene

mRNA/cDNA for CIB1 Gene

Unigene Clusters for CIB1 Gene

Calcium and integrin binding 1 (calmyrin):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CIB1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CIB1 Gene

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: -

Relevant External Links for CIB1 Gene

GeneLoc Exon Structure for
CIB1
ECgene alternative splicing isoforms for
CIB1

Expression for CIB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CIB1 Gene

Protein differential expression in normal tissues from HIPED 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:

CIB1

SOURCE GeneReport for Unigene cluster for CIB1 Gene:

Hs.715556

mRNA 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.
genes like me logo Genes that share expression patterns with CIB1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for CIB1 Gene

Orthologs for CIB1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CIB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CIB1 34 35
  • 99.65 (n)
dog
(Canis familiaris)
Mammalia CIB1 34 35
  • 91.62 (n)
cow
(Bos Taurus)
Mammalia CIB1 34 35
  • 91.45 (n)
rat
(Rattus norvegicus)
Mammalia Cib1 34
  • 89.88 (n)
mouse
(Mus musculus)
Mammalia Cib1 34 16 35
  • 89.18 (n)
oppossum
(Monodelphis domestica)
Mammalia CIB1 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves CIB1 34 35
  • 75.49 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia cib1 34
  • 64.73 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13909 34
zebrafish
(Danio rerio)
Actinopterygii cib1 35
  • 74 (a)
OneToOne
LOC100536377 34
  • 68.45 (n)
wufc44f06 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2005 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008474 34
  • 52.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG32812 35
  • 20 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CNB1 35
  • 27 (a)
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)

Evolution for CIB1 Gene

ENSEMBL:
Gene Tree for CIB1 (if available)
TreeFam:
Gene Tree for CIB1 (if available)

Paralogs for CIB1 Gene

Paralogs for CIB1 Gene

(4) SIMAP similar genes for CIB1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CIB1: view

Variants for CIB1 Gene

Sequence variations from dbSNP and Humsavar for CIB1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs10083656 -- 90,256,553(+) TCTTT(C/T)TTTCT intron-variant
rs10083710 -- 90,256,570(+) CTTTC(C/T)TTCTT intron-variant
rs10083711 -- 90,256,574(+) CTTTC(C/T)TTCTT intron-variant
rs10083712 -- 90,256,587(+) TTTCT(C/T)TCTTT intron-variant
rs10152994 -- 90,241,698(+) CAGGG(A/C)CTGAC intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CIB1 Gene

Variant ID Type Subtype PubMed ID
nsv94838 CNV deletion 16902084
nsv94314 CNV deletion 16902084
nsv9296 CNV loss 18304495
nsv833087 CNV loss 17160897
nsv817707 CNV gain 17921354
nsv442384 CNV gain 18776908
nsv1122992 CNV deletion 24896259
nsv1052652 CNV gain 25217958
esv3637218 CNV gain 21293372
esv3637217 CNV loss 21293372
esv3637216 CNV gain 21293372
esv3637215 CNV loss 21293372
esv3637214 CNV gain 21293372
esv3552835 CNV deletion 23714750
esv3194606 CNV deletion 24192839
esv2760054 CNV gain 17122850
esv2751541 CNV gain 17911159
esv2663301 CNV deletion 23128226
dgv112e55 CNV gain 17911159

Variation tolerance for CIB1 Gene

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

MalaCards: The human disease database

(1) MalaCards diseases for CIB1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards
Search CIB1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CIB1

Genetic Association Database (GAD)
CIB1
Human Genome Epidemiology (HuGE) Navigator
CIB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CIB1
genes like me logo Genes that share disorders with CIB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CIB1 Gene

Publications for CIB1 Gene

  1. 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
  2. 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
  3. 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
  4. 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
  5. G1P3, an interferon inducible gene 6-16, is expressed in gastric cancers and inhibits mitochondrial-mediated apoptosis in gastric cancer cell line TMK-1 cell. (PMID: 15685448) Tahara E. Jr. … Tahara E. (Cancer Immunol. Immunother. 2005) 3 4 22 64

Products for CIB1 Gene

Sources for CIB1 Gene

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