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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CABP7 Gene

protein-coding   GIFtS: 44
GCID: GC22P030116

Calcium Binding Protein 7

  See 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)
About This Section

Aliases
Calcium Binding Protein 71 2     Calneuron 22
Calneuron II2 3     calneuron-22
CALN22 3     CaBP73
Calcium-Binding Protein 72     Calneuron-23

External Ids:    HGNC: 208341   Entrez Gene: 1646332   Ensembl: ENSG000001003147   UniProtKB: Q86V353   

Export aliases for CABP7 gene to outside databases

Previous GC identifers: GC22P028440 GC22P013055


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for CABP7 Gene: 
CABP7 (calcium binding protein 7) is a protein-coding gene. Diseases associated with CABP7 include retinitis. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CALML3.

UniProtKB/Swiss-Prot: CABP7_HUMAN, Q86V35
Function: Negatively regulates Golgi-to-plasma membrane trafficking by interacting with PI4KB and inhibiting its
activity (By similarity)




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.2  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CABP7 gene promoter:
         Max1   USF1   NF-1   GATA-3   NRSF form 1   MyoD   NRSF form 2   USF-1   MRF-2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCABP7 promoter sequence
   Search SABiosciences Chromatin IP Primers for CABP7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CABP7


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

Entrez Gene cytogenetic band: 22q12.2   Ensembl cytogenetic band:  22q12.2   HGNC cytogenetic band: 22q12.2

CABP7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CABP7 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P030116:  view genomic region     (about GC identifiers)

Start:
30,116,073 bp from pter      End:
30,127,828 bp from pter
Size:
11,756 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CABP7_HUMAN, Q86V35 (See protein sequence)
Recommended Name: Calcium-binding protein 7  
Size: 215 amino acids; 24453 Da
Subunit: Interacts with PI4KB. This binding competes with FREQ/NCS1 binding in a calcium-dependent manner (By
similarity)
Subcellular location: Golgi apparatus, trans-Golgi network membrane; Single-pass type IV membrane protein
(Probable). Cytoplasm, perinuclear region. Cell membrane; Single-pass type IV membrane protein (Probable)
1 PDB 3D structure from and Proteopedia for CABP7:
2LV7 (3D)    

Explore the universe of human proteins at neXtProt for CABP7: NX_Q86V35

Explore proteomics data for CABP7 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86V35

  • CABP7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CABP7 Protein Expression
    REFSEQ proteins: NP_872333.1  
    ENSEMBL proteins: 
     ENSP00000216144  

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    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005794Golgi apparatus IEA--
    GO:0005886plasma membrane IEA--
    GO:0016021integral to membrane IEA--
    GO:0032588trans-Golgi network membrane IDA19338761
    GO:0048471perinuclear region of cytoplasm IEA--

    CABP7 for ontologies           About GeneDecksing



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

    4 InterPro protein domains:
     IPR018247 EF_Hand_1_Ca_BS
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_dom
     IPR001751 S100/CaBP-9k_CS

    Graphical View of Domain Structure for InterPro Entry Q86V35

    ProtoNet protein and cluster: Q86V35

    UniProtKB/Swiss-Prot: CABP7_HUMAN, Q86V35
    Domain: The C-terminal transmembrane domain (TMD) is necessary and sufficient for membrane targeting
    Similarity: Contains 2 EF-hand domains


    CABP7 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CABP7_HUMAN, Q86V35
    Function: Negatively regulates Golgi-to-plasma membrane trafficking by interacting with PI4KB and inhibiting its
    activity (By similarity)

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
         
    CABP7 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CABP7 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Visual Cycle in Retinal Rods
    Visual Cycle in Retinal Rods

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for CABP7
        Visual Cycle in Retinal Rods


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CABP7

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CABP7

    Search CenterWatch for drugs/clinical trials and news about CABP7

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for CABP7 gene: 
    NM_182527.2  

    Unigene Cluster for CABP7:

    Calcium binding protein 7
    Hs.643608  [show with all ESTs]
    Unigene Representative Sequence: BC051805
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000216144(uc003agl.3)
    miRNA
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    Additional mRNA sequence: BC051805.1 

    3 DOTS entries:

    DT.65285832  DT.100026715  DT.456154 

    19 AceView cDNA sequences:

    BC051805 NM_182527 BU167479 AI989906 BI117398 BM126037 CK818911 BX488512 
    BM069656 BM126317 BM548677 AA351919 Z41943 BM548414 BF941601 BM069879 
    CK818912 BU585277 H88694 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CABP7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATACTATTTT
    CABP7 Expression
    About this image


    See CABP7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CABP7

    SOURCE GeneReport for Unigene cluster: Hs.643608
        SABiosciences Custom PCR Arrays for CABP7
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CABP7

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CABP7 gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cabp71 , 5 calcium binding protein 71, 5 94.11(n)1
    100(a)1
      11 (2.98 cM)5
    1926501  NM_138948.31  NP_620398.11 
     47368925 
    chicken
    (Gallus gallus)
    Aves CABP71 calcium binding protein 7 91.07(n)
    97.81(a)
      770960  XM_001234277.2  XP_001234278.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5560821 calcium binding protein 7-like 72.93(n)
    77.93(a)
      556082  XM_678793.2  XP_683885.1 


    ENSEMBL Gene Tree for CABP7 (if available)
    TreeFam Gene Tree for CABP7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CABP7 gene
    CALML32  CABP52  CABP12  TNNC12  CALM32  CABP42  CABP22  CALM12  
    CALML62  TNNC22  CALML52  CALML42  CALN12  CALM22  
    4 SIMAP similar genes for CABP7 using alignment to 1 protein entry:     CABP7_HUMAN:
    CALN1    CABP1    CETN1    CABP5

    CABP7 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/567 SNPs in CABP7 are shown (see all 567)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs119123461,2
    C,F,H--13058626(+) AACTTG/ATGTTT 1 -- int13Minor allele frequency- A:0.26WA CSA 122
    rs25273401,2
    C--13058643(+) TTTTTC/TAGAAA 1 -- int11Minor allele frequency- T:0.50NA 2
    rs1494992941,2
    C--13058643(+) TTTTT-/CAGAAA 1 -- int10--------
    rs1389213531,2
    C--13058644(+) TTTTA-/CGAAAG 1 -- int10--------
    rs1147913831,2
    F--13058659(+) TTGAAG/ATGGAT 1 -- int11Minor allele frequency- A:0.04WA 118
    rs1486022191,2
    C--13058672(+) ACTAAA/GGAATA 1 -- int10--------
    rs1920963981,2
    C--13058844(+) TGCCAC/TCATGC 1 -- int10--------
    rs15402861,2
    F--13058913(+) GTCTCG/AAACTC 1 -- int11Minor allele frequency- A:0.18MN 184
    rs1839197541,2
    --13058939(+) CTGCCC/TGCCTC 1 -- int10--------
    rs19707761,2
    C,F,A--13058972(+) ACAGGC/TGTGAG 1 -- int11Minor allele frequency- T:0.50WA 2

    HapMap Linkage Disequilibrium report for CABP7 (30116073 - 30127828 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for CABP7:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv914967CNV Loss21882294
    nsv471195CNV Loss18288195
    dgv4953n71CNV Loss21882294
    nsv471194CNV Gain18288195
    nsv515720CNV Gain+Loss19592680

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for CABP7:    About MalaCards
    retinitis    


    CABP7 for disorders           About GeneDecksing


    Export disorders for CABP7 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)
    About This Section

    PubMed articles for CABP7 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CABP7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Solution NMR structure of the Ca2+-bound N-terminal do main of CaBP7: a regulator of golgi trafficking. (PubMed id 22989873)1, 2 McCue H.V....Haynes L.P. (2012)
    2. Membrane targeting of the EF-hand containing calcium-sensing proteins CaBP7 and CaBP8. (PubMed id 19338761)1, 2 McCue H.V.... Haynes L.P. (2009)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Calcium-binding proteins: intracellular sensors from the calmodulin superfamily. (PubMed id 11785943)1, 3 Haeseleer F....Palczewski K. (2002)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    6. Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence. (PubMed id 7566098)1 Adams M.D....White O. (1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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)
    About This Section
    Entrez Gene: 164633 HGNC: 20834 AceView: CABP7 Ensembl:ENSG00000100314 euGenes: HUgn164633
    ECgene: CABP7 H-InvDB: CABP7

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CABP7 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CABP7 gene:
    Search GeneIP for patents involving CABP7

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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