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CIB1 Gene

protein-coding   GIFtS: 58
GCID: GC15M090773

Calcium And Integrin Binding 1 (Calmyrin)

  See CIB1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Calcium And Integrin Binding 1 (Calmyrin)1 2     KIP12
CIB2 3 5     Calcium And Integrin-Binding Protein 12
CIBP2 3     DNA-Dependent Protein Kinase Interacting Protein2
PRKDCIP2 3     DNA-PK Interaction Protein2
SIP2-282 3     Calmyrin3
DNA-PKcs-Interacting Protein2 3     Calcium- And Integrin-Binding Protein3
SNK-Interacting Protein 2-282 3     Kinase-Interacting Protein3
KIP3 5     

External Ids:    HGNC: 169201   Entrez Gene: 105192   Ensembl: ENSG000001850437   OMIM: 6022935   UniProtKB: Q998283   

Export aliases for CIB1 gene to outside databases

Previous GC identifers: GC15P087395 GC15M084280 GC15M088360 GC15M088503 GC15M088574 GC15M066885


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (calmyrin)) is a protein-coding gene. Diseases associated with CIB1 include papillary thyroid carcinoma. GO annotations related to this gene include protein anchor and calcium ion binding. An important paralog of this gene is CIB3.

UniProtKB/Swiss-Prot: CIB1_HUMAN, Q99828
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
Function: Isoform 2: Plays a regulatory role in angiogenesis and tumor growth by mediating PKD/PRKD2-induced
vascular endothelial growth factor A (VEGFA) secretion (PubMed:23503467)

Gene Wiki entry for CIB1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the CIB1 gene promoter:
         RFX1   Sp1   Brachyury   Egr-1   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   Egr-4   YY1   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCIB1 promoter sequence
   Search Chromatin IP Primers for CIB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CIB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q25.3-q26   Ensembl cytogenetic band:  15q26.1   HGNC cytogenetic band: 15q25.3-q26

CIB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CIB1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M090773:  view genomic region     (about GC identifiers)

Start:
90,773,207 bp from pter      End:
90,777,279 bp from pter
Size:
4,073 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CIB1_HUMAN, Q99828 (See protein sequence)
Recommended Name: Calcium and integrin-binding protein 1  
Size: 191 amino acids; 21703 Da
Subunit: Monomer. Interacts with MYO1C. Interacts (via C-terminus 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-terminus region) with STMN2 (via the N-terminus
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-terminus cytoplasmic tail); the interaction occurs upon platelet aggregation and is
stabilized/increased in a calcium and magnesium-dependent manner. Interacts with PAK1 (via N-terminus region);
the interaction is direct and occurs in a calcium-dependent manner. Interacts with RAC3 (via C-terminus 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) (PubMed:14992593)
Selected PDB 3D structures from and Proteopedia for CIB1 (see all 7):
1DGU (3D)        1DGV (3D)        1XO5 (3D)        1Y1A (3D)        2L4H (3D)        2L4I (3D)    
Secondary accessions: B5BU40 H6WJF3 O00693 O00735 Q6IB49 Q96J54 Q99971
Alternative splicing: 2 isoforms:  Q99828-1   Q99828-2   

Explore the universe of human proteins at neXtProt for CIB1: NX_Q99828

Explore proteomics data for CIB1 at MOPED

Post-translational modifications: 

  • Phosphorylation of isoform 2 at Ser-78 by PRKD2 increases its ability to stimulate tumor angiogenesis (Probable)1
  • Ubiquitination2 at Lys10, Lys24, Lys65, Lys70
  • Modification sites at PhosphoSitePlus

  • See CIB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001264693.1  NP_006375.2  

    ENSEMBL proteins: 
     ENSP00000333873  

    CIB1 Human Recombinant Protein Products:

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    antibodies-online peptides for CIB1

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    antibodies-online antibodies for CIB1 (465 products) 

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    antibodies-online kits for CIB1 (13 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    3 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry Q99828

    ProtoNet protein and cluster: Q99828

    UniProtKB/Swiss-Prot: CIB1_HUMAN, Q99828
    Domain: The EF-hands may also bind magnesium ions in the presence of high Mg(2+) levels and low Ca(2+) levels
    Similarity: Contains 2 EF-hand domains


    Find genes that share domains with CIB1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CIB1_HUMAN, Q99828
    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
    Function: Isoform 2: Plays a regulatory role in angiogenesis and tumor growth by mediating PKD/PRKD2-induced
    vascular endothelial growth factor A (VEGFA) secretion (PubMed:23503467)
    Induction: Up-regulated during breast cancer progression

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IMP15475008
    GO:0005515protein binding IPI10366599
    GO:0017016Ras GTPase binding IPI11756406
    GO:0043495protein anchor IGI--
    GO:0044325ion channel binding IEA--
         
    Find genes that share ontologies with CIB1           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cib1):
     cellular  endocrine/exocrine gland  reproductive system 

    Find genes that share phenotypes with CIB1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cib1tm1Prse for CIB1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CIB1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CIB1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CIB1

    miRNA
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    miRTarBase miRNAs that target CIB1:
    hsa-mir-16-5p (MIRT031749), hsa-mir-26b-5p (MIRT029584)

    Block miRNA regulation of human, mouse, rat CIB1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate CIB1:
    hsa-miR-4267
    SwitchGear 3'UTR luciferase reporter plasmidCIB1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CIB1

    Gene Editing
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CIB1_HUMAN, Q99828: 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
    CIB1_HUMAN, Q99828: Isoform 2: Cytoplasm, perinuclear region. Golgi apparatus, trans-Golgi network
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane5
    endoplasmic reticulum3
    cytosol2
    cytoskeleton1
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm IMP10366599
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IMP10366599
    GO:0005783endoplasmic reticulum IMP10366599

    Find genes that share ontologies with CIB1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CIB1 About    
    See pathways by source

    SuperPathContained pathways About
    1Development Angiotensin activation of ERK
    Cell adhesion Integrin inside out signaling0.44

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for CIB1
        Cell adhesion Integrin inside-out signaling


        Pathway & Disease-focused RT2 Profiler PCR Array including CIB1: 
              DNA Damage Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CIB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CIB1 (Q998281, 2, 3 ENSP000003338734) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WASLO004011, 2, 3, ENSP000002230234EBI-372594,EBI-957615 MINT-1894563 MINT-1894734 MINT-1894761 MINT-2748633 MINT-1894885 MINT-1894939 MINT-2748609 I2D: score=1 STRING: ENSP00000223023
    ITGA2P173012, 3, ENSP000002965854MINT-1894979 I2D: score=1 STRING: ENSP00000296585
    PSEN2P498102, 3, ENSP000003557474MINT-15561 MINT-15560 MINT-15562 I2D: score=5 STRING: ENSP00000355747
    PRKDCP785273, ENSP000003134204I2D: score=3 STRING: ENSP00000313420
    PSEN1P497683, ENSP000003263664I2D: score=3 STRING: ENSP00000326366
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 42):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0001933negative regulation of protein phosphorylation ISS--
    GO:0001934positive regulation of protein phosphorylation ISS--
    GO:0001954positive regulation of cell-matrix adhesion ISS--
    GO:0002931response to ischemia ISS--

    Find genes that share ontologies with CIB1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CIB1

    8 Novoseek inferred chemical compound relationships for CIB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 36.7 44 18627437 (6), 14992593 (4), 10822252 (3), 18197701 (3) (see all 15)
    fibrinogen 30.1 7 12714504 (3), 11756406 (2), 11704681 (1)
    threonine 26.4 2 15611134 (1), 16325270 (1)
    leucine 18.6 1 17126281 (1)
    serine 18 2 15611134 (1), 16325270 (1)
    magnesium 12.6 4 14992593 (2), 17516631 (1), 18197701 (1)
    adp 3.82 1 11704681 (1)
    alanine 0 2 12023286 (1)



    Find genes that share compounds with CIB1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CIB1 gene (2 alternative transcripts): 
    NM_001277764.1  NM_006384.3  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000328649(uc002bpb.4)
    miRNA
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    Selected AceView cDNA sequences (see all 439):

    BU683847 AI470697 BU949765 BM825447 CA424369 BM983981 BG823659 BM749498 
    BM757323 CR604330 BM990740 BM969129 BU731593 BQ669070 CR626397 BM737800 
    BQ924681 AA826393 BQ940076 BQ220032 AW130803 BQ947671 BM757324 AI339321 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CIB1 (see all 12)    About this scheme

    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:              -     -     -           -                                                                                 


    ECgene alternative splicing isoforms for CIB1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CIB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAGAGGGCG
    CIB1 Expression
    About this image

    CIB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CIB1 Protein Expression

    UniProtKB/Swiss-Prot: CIB1_HUMAN, Q99828
    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

        Pathway & Disease-focused RT2 Profiler PCR Array including CIB1: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for CIB1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cib11 , 5 calcium and integrin binding 1 (calmyrin)1, 5 89.18(n)1
    93.72(a)1
      7 (45.55 cM)5
    239911  NM_011870.41  NP_036000.11 
     802271565 
    chicken
    (Gallus gallus)
    Aves CIB11 calcium and integrin binding 1 (calmyrin) 75.49(n)
    74.6(a)
      770162  NM_001277648.1  NP_001264577.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.139092 Xenopus laevis transcribed sequence with weak similarity more 75.97(n)    BJ624062.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc44f062 Transcribed sequence with moderate similarity to protein more 72.13(n)    BM141096.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG328126
    --
    20(a)
    1 → many
    X(1181323-1182978)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CNB16
    Calcineurin B; the regulatory subunit of calcineur...
    27(a)
    1 → many
    XI(82947-83550) YKL190W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CIB1 gene
    CIB32  PPP3R22  CIB42  PPP3R12  WDR922  ENSG000002733982  CHP22  CIB22  
    CHP12  
    4 SIMAP similar genes for CIB1 using alignment to 1 protein entry:     CIB1_HUMAN:
    CIB3    CIB2    CIB4    PPP3R1

    Find genes that share paralogs with CIB1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CIB1 (see all 271)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1496761391,2
    --66922950(+) ACCTGC/GCAGGA 1 -- us2k10--------
    rs1873819371,2
    --90773565(+) CAACGA/CGGGCC 4 -- ut31 nc-transcript-variant0--------
    rs1906694991,2
    --90773653(+) ACCTTA/GGCCAC 4 -- ut31 nc-transcript-variant0--------
    rs1506327961,2
    C--90773702(+) ACACAC/TGCTGG 4 -- ut31 nc-transcript-variant0--------
    rs20737061,2
    C,F,A,H--90773782(-) TCCCTA/GCCCTC 4 -- int117Minor allele frequency- G:0.36EA NS NA WA CSA 1514
    rs740370641,2
    C,F--90773801(+) GAACTT/CGCCCC 4 -- int14Minor allele frequency- C:0.25WA CSA 124
    rs786402151,2
    C,F--90773895(+) GGAGCT/CTTCTG 4 -- int11Minor allele frequency- C:0.17WA 118
    rs20737051,2
    C,F,H--90774039(-) GGGCCG/AGCTAA 4 -- int110Minor allele frequency- A:0.36NA CSA WA EA 375
    rs1829260891,2
    --90774058(+) GGGACG/TGGGGC 4 -- int10--------
    rs1398138371,2
    C--90774193(+) AGATGA/GCGTGC 6 A V mis10--------

    HapMap Linkage Disequilibrium report for CIB1 (90773207 - 90777279 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for CIB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv904491CNV Loss21882294
    nsv833087CNV Loss17160897
    dgv2435n71CNV Loss21882294
    nsv817707CNV Gain17921354
    dgv112e55CNV Gain17911159
    nsv442384CNV CNV18776908
    dgv776e1CNV Complex17122850
    dgv777e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602293    OMIM disorders: --

    1 disease for CIB1:    
    About MalaCards
    papillary thyroid carcinoma


    Find genes that share disorders with CIB1           About GenesLikeMe

    6 Novoseek inferred disease relationships for CIB1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 14.6 2 15685448 (1)
    gastric cancer 12.7 2 16118517 (2)
    breast cancer 0 1 15059906 (1)
    metastasis 0 1 17162129 (1)
    tumors 0 4 16118517 (2), 11894123 (1), 12872447 (1)
    cancer 0 1 20392941 (1)

    Genetic Association Database (GAD): CIB1
    Human Genome Epidemiology (HuGE) Navigator: CIB1 (3 documents)

    Export disorders for CIB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CIB1 gene, integrated from 10 sources (see all 117):
    (articles sorted by number of sources associating them with CIB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic structure of mouse and human genes for DNA-PKcs interacting protein (KIP). (PubMed id 10826701)1, 2, 3, 9 Hattori A.... Saito T. (DNA Seq. 2000)
    2. Identification of a novel calcium-binding protein that interacts with the integrin alphaIIb cytoplasmic domain. (PubMed id 9030514)1, 2, 3 Naik U.P.... Parise L.V. (J. Biol. Chem. 1997)
    3. Molecular basis of CIB binding to the integrin alpha IIb cytoplasmic domain. (PubMed id 12023286)1, 2, 9 Barry W.T.... Parise L.V. (J. Biol. Chem. 2002)
    4. Metal ion binding properties and conformational states of calcium- and integrin-binding protein. (PubMed id 14992593)1, 2, 9 Yamniuk A.P....Vogel H.J. (Biochemistry 2004)
    5. Auxiliary Ca2+ binding sites can influence the structure of CIB1. (PubMed id 19388079)1, 2, 9 Yamniuk A.P.... Vogel H.J. (Protein Sci. 2009)
    6. Sweet taste receptor interacting protein CIB1 is a general inhibitor of InsP3-dependent Ca2+ release in vivo. (PubMed id 18627437)1, 2, 9 Hennigs J.K.... Schmale H. (J. Neurochem. 2008)
    7. Association of CIB with GPIIb/IIIa during outside-in signaling is required for platelet spreading on fibrinogen. (PubMed id 12714504)1, 2, 9 Naik U.P. and Naik M.U. (Blood 2003)
    8. Calcium-binding calmyrin forms stable covalent dimers in vitro, but in vivo is found in monomeric form. (PubMed id 15933764)1, 2, 9 Sobczak A....Wojda U. (Acta Biochim. Pol. 2005)
    9. Structures of the platelet calcium- and integrin-binding protein and the alphaIIb-integrin cytoplasmic domain suggest a mechanism for calcium-regulated recognition; homology modelling and NMR studies. (PubMed id 10822252)1, 2, 9 Hwang P.M. and Vogel H.J. (J. Mol. Recognit. 2000)
    10. The small GTPase Rac3 interacts with the integrin-binding protein CIB and promotes integrin alpha(IIb)beta(3)-mediated adhesion and spreading. (PubMed id 11756406)1, 2, 9 Haataja L....Heisterkamp N. (J. Biol. Chem. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10519 HGNC: 16920 AceView: CIB1 Ensembl:ENSG00000185043 euGenes: HUgn10519
    ECgene: CIB1 H-InvDB: CIB1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CIB1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CIB1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CIB1 gene:
    Search GeneIP for patents involving CIB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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