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NUCB1 Gene

protein-coding   GIFtS: 57
GCID: GC19P049403

Nucleobindin 1

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(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
Nucleobindin 11 2
CALNUC2 3
NUC2 3
nucleobindin-12

External Ids:    HGNC: 80431   Entrez Gene: 49242   Ensembl: ENSG000001048057   OMIM: 6013235   UniProtKB: Q028183   

Export aliases for NUCB1 gene to outside databases

Previous GC identifers: GC19P050062 GC19P049772 GC19P054079 GC19P054095 GC19P045779


(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 NUCB1 Gene:
This gene encodes a member of a small calcium-binding EF-hand protein family. The encoded protein is thought to
have a key role in Golgi calcium homeostasis and Ca(2+)-regulated signal transduction events. (provided by
RefSeq, Jun 2010)

GeneCards Summary for NUCB1 Gene:
NUCB1 (nucleobindin 1) is a protein-coding gene. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is NUCB2.

UniProtKB/Swiss-Prot: NUCB1_HUMAN, Q02818
Function: Major calcium-binding protein of the Golgi. May have a role in calcium homeostasis (By similarity)

Gene Wiki entry for NUCB1 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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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the NUCB1 gene promoter:
         STAT1   AP-1   CUTL1   STAT5A   AREB6   Ik-2   COMP1   SEF-1 (1)   ARP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNUCB1 promoter sequence
   Search Chromatin IP Primers for NUCB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NUCB1


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

Entrez Gene cytogenetic band: 19q13.33   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.33

NUCB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NUCB1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P049403:  view genomic region     (about GC identifiers)

Start:
49,403,307 bp from pter      End:
49,426,629 bp from pter
Size:
23,323 bases      Orientation:
plus 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, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NUCB1_HUMAN, Q02818 (See protein sequence)
Recommended Name: Nucleobindin-1 precursor  
Size: 461 amino acids; 53879 Da
Subunit: Interacts with GNAI2 and GNAI3
Miscellaneous: Discovered as DNA-binding protein in the serum of lupus-prone mice
1 PDB 3D structure from and Proteopedia for NUCB1:
1SNL (3D)    
Secondary accessions: B2RD64 Q15838 Q7Z4J7 Q9BUR1

Explore the universe of human proteins at neXtProt for NUCB1: NX_Q02818

Explore proteomics data for NUCB1 at MOPED

Post-translational modifications: 

  • O-glycosylated1
  • Glycosylation2 at Thr39, Thr42, Ser44, Thr47, Tyr50, Ser93, Thr148, Thr160, Thr162, Tyr168,
                                 Ser224, Thr313, Ser320, Thr321, Ser369, Thr372, Ser378, Thr426, Ser444
  • Modification sites at PhosphoSitePlus

  • See NUCB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006175.2  
    ENSEMBL proteins: 
     ENSP00000385923   ENSP00000385211   ENSP00000389007   ENSP00000397608   ENSP00000410519  
     ENSP00000397201   ENSP00000389734   ENSP00000263273  

    NUCB1 Human Recombinant Protein Products:

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    Novus Biologicals NUCB1 Protein
    Novus Biologicals NUCB1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NUCB1

     
    Search eBioscience for Proteins for NUCB1 

     
    antibodies-online proteins for NUCB1 (3 products) 

     
    antibodies-online peptides for NUCB1

    NUCB1 Antibody Products:

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    antibodies-online antibodies for NUCB1 (34 products) 

    NUCB1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NUCB1
    Cloud-Clone Corp. CLIAs for NUCB1
    Search eBioscience for ELISAs for NUCB1 
    antibodies-online kits for NUCB1 (12 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 Q02818

    ProtoNet protein and cluster: Q02818

    UniProtKB/Swiss-Prot: NUCB1_HUMAN, Q02818
    Domain: The EF-hand domains are unfolded in the absence of Ca(2+) and fold upon Ca(2+) addition
    Similarity: Belongs to the nucleobindin family
    Similarity: Contains 2 EF-hand domains


    Find genes that share domains with NUCB1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: NUCB1_HUMAN, Q02818
    Function: Major calcium-binding protein of the Golgi. May have a role in calcium homeostasis (By similarity)

         Genatlas biochemistry entry for NUCB1:
    nucleobindin,55kDa,ubiquitously expressed,homolog of a secreted protein promoting production of DNA-specific
    antibodies in lupus-prone MRL/lpr mouse

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with NUCB1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for NUCB1:
     Wnt reporter downregulated 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for NUCB1

    miRNA
    Products:
        
    miRTarBase miRNAs that target NUCB1:
    hsa-mir-484 (MIRT042089), hsa-mir-92a-3p (MIRT048994), hsa-mir-335-5p (MIRT016838), hsa-mir-30a-5p (MIRT005205), hsa-mir-193b-3p (MIRT016302)

    Block miRNA regulation of human, mouse, rat NUCB1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NUCB1 (see all 9):
    hsa-miR-485-5p hsa-miR-424 hsa-miR-15a hsa-miR-3652 hsa-miR-16 hsa-miR-195 hsa-miR-497 hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidNUCB1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NUCB1
    Predesigned siRNA for gene silencing in human, mouse, rat NUCB1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NUCB1

    Clone
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    OriGene clones in human, mouse for NUCB1 (see all 7)
    OriGene ORF clones in mouse, rat for NUCB1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NUCB1 (NM_006184)
    Sino Biological Human cDNA Clone for NUCB1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NUCB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NUCB1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for NUCB1
    Browse ESI BIO Cell Lines and PureStem Progenitors for NUCB1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NUCB1


    (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
    NUCB1_HUMAN, Q02818: Golgi apparatus, cis-Golgi network membrane; Peripheral membrane protein; Lumenal side (By
    similarity). Cytoplasm (By similarity). Note=A small fraction of the protein may be cytoplasmic (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    extracellular4
    golgi apparatus4
    endoplasmic reticulum3
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space TAS1520323
    GO:0005793endoplasmic reticulum-Golgi intermediate compartment IDA15308636
    GO:0005794Golgi apparatus IEA--
    GO:0015630microtubule cytoskeleton ----
    GO:0016020membrane IEA--

    Find genes that share ontologies with NUCB1           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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        Pathway & Disease-focused RT2 Profiler PCR Arrays including NUCB1: 
              Unfolded Protein Response in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NUCB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for NUCB1 (Q028181, 2, 3 ENSP000002632734) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CASP8Q147902, 3, ENSP000003512734MINT-6175515 I2D: score=1 STRING: ENSP00000351273
    CASP6P552122, 3, ENSP000002651644MINT-6175501 I2D: score=1 STRING: ENSP00000265164
    PTGS1P232193, ENSP000003546124I2D: score=3 STRING: ENSP00000354612
    PTGS2P353543, ENSP000003564384I2D: score=2 STRING: ENSP00000356438
    ECHS1P300843, ENSP000003575354I2D: score=1 STRING: ENSP00000357535
    About this table

    (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)
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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 NUCB1

    1 HMDB Compound for NUCB1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    2 Novoseek inferred chemical compound relationships for NUCB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leucine 57.6 4 9589460 (1), 1520323 (1), 8147883 (1), 8661046 (1)
    calcium 10.5 18 10209024 (7), 8147883 (1)



    Find genes that share compounds with NUCB1           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 NUCB1 gene: 
    NM_006184.5  

    Unigene Cluster for NUCB1:

    Nucleobindin 1
    Hs.631602  [show with all ESTs]
    Unigene Representative Sequence: NM_006184
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000405315(uc002pla.3 uc002plb.4) ENST00000407032 ENST00000452087
    ENST00000485798 ENST00000443560 ENST00000411700 ENST00000451312 ENST00000424608
    ENST00000465524 ENST00000460125 ENST00000469291 ENST00000492367(uc002pld.3)
    ENST00000263273
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NUCB1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NUCB1 (see all 9):
    hsa-miR-485-5p hsa-miR-424 hsa-miR-15a hsa-miR-3652 hsa-miR-16 hsa-miR-195 hsa-miR-497 hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidNUCB1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for NUCB1
    Predesigned siRNA for gene silencing in human, mouse, rat NUCB1
    Clone
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    OriGene clones in human, mouse for NUCB1 (see all 7)
    OriGene ORF clones in mouse, rat for NUCB1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NUCB1 (NM_006184)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NUCB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NUCB1
    Primer
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    OriGene qPCR primer pairs and template standards for NUCB1
    OriGene qSTAR qPCR primer pairs in human, mouse for NUCB1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NUCB1
      QuantiTect SYBR Green Assays in human, mouse, rat NUCB1
      QuantiFast Probe-based Assays in human, mouse, rat NUCB1

    Additional mRNA sequence: 

    AK025458.1 AK097790.1 AK222805.1 AK292066.1 AK303126.1 AK315422.1 BC002356.2 BC015787.1 
    BT009828.1 BX647291.1 BX647718.1 M96824.1 U92978.1 

    Selected DOTS entries (see all 49):

    DT.95353804  DT.92461692  DT.100763171  DT.100877341  DT.80101764  DT.100877346  DT.100032477  DT.97783916 
    DT.91948754  DT.92020593  DT.101985619  DT.121447444  DT.95123375  DT.100877334  DT.95177580  DT.121447434 
    DT.121447372  DT.100877323  DT.100877335  DT.100877339  DT.100877340  DT.95177579  DT.95325096  DT.100877316 

    13 AceView cDNA sequences:

    CR599627 CR622810 CR604440 NM_006184 BC002356 BT009828 AK025458 BC015787 
    BX647291 AK097790 BX647718 M96824 U92978 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NUCB1 (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c ^ 12 ^
    SP1:                          -                                                                 -                 -                                             
    SP2:                          -                                                                 -                 -                                             
    SP3:                          -                                                           -                                                                     
    SP4:                                                                                            -                 -                                             
    SP5:                                                                                            -                 -           -                                 

    ExUns: 13a · 13b
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for NUCB1

    (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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    NUCB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCCGGTTCC
    NUCB1 Expression
    About this image


    NUCB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
    NUCB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NUCB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.631602

    UniProtKB/Swiss-Prot: NUCB1_HUMAN, Q02818
    Tissue specificity: Expressed both in fetal and adult heart, lung, liver, kidney and brain, and in adult skeletal
    muscle, placenta and pancreas

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NUCB1: 
              Unfolded Protein Response in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for NUCB1
    OriGene qSTAR qPCR primer pairs in human, mouse for NUCB1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NUCB1
    QuantiTect SYBR Green Assays in human, mouse, rat NUCB1
    QuantiFast Probe-based Assays in human, mouse, rat NUCB1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NUCB1

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for NUCB1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nucb11 , 5 nucleobindin 11, 5 85.29(n)1
    88.25(a)1
      7 (29.33 cM)5
    182201  NM_001163662.11  NP_001157134.11 
     454928745 
    lizard
    (Anolis carolinensis)
    Reptilia NUCB16
    nucleobindin 1
    60(a)
    1 ↔ 1
    GL343355.1(568953-585726)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.235742 Xenopus laevis, Similar to nucleobindin 1, clone IMAGE46824 more 77.25(n)    BC041205.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nucb11 nucleobindin 1 65.49(n)
    67.93(a)
      751753  NM_001045463.1  NP_001038928.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta NUCB16
    NUCB1
    28(a)
    1 → many
    3L(17790838-17795379)
    worm
    (Caenorhabditis elegans)
    Secernentea nucb-16
    Protein NUCB-1, isoform a (nucb-1) mRNA, complete ...
    30(a)
    1 → many
    X(10197706-10200407) WBGene00009674


    ENSEMBL Gene Tree for NUCB1 (if available)
    TreeFam Gene Tree for NUCB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NUCB1 gene
    NUCB22  
    2 SIMAP similar genes for NUCB1 using alignment to 6 protein entries:     NUCB1_HUMAN (see all proteins):
    Nucb2    NUCB2

    Find genes that share paralogs with NUCB1           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 NUCB1 (see all 697)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3719031201,2
    --45788415(+) GGGGT-/GGGTGTG 1 -- int10--------
    rs2012072381,2
    C--45799474(+) TTTTT-/C/TC  
            
    TGAAA
    1 -- int10--------
    rs1388903251,2
    C--49404144(+) TGGAGC/TGAGGG 2 R * stg12Minor allele frequency- T:0.00NA EU 5399
    rs2003327751,2
    C--49404199(+) TGGCCC/TTGCCC 1 -- int11Minor allele frequency- T:0.00EU 717
    rs1485982361,2
    --49404268(+) AGGGCG/TGATGC 1 -- int10--------
    rs1413910511,2
    C--49404368(+) GGTCC-/CTGACT
            
    CTGAG
    1 -- int10--------
    rs104169671,2
    C,F,H--49404393(+) ATCTGC/TATCAC 1 -- int113Minor allele frequency- T:0.23NS EA NA CSA WA 782
    rs1871497671,2
    --49404429(+) AAGATG/TCTCTC 1 -- int10--------
    rs1138004191,2
    F--49404448(+) AAGGAT/ATTTGA 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs172727071,2
    C,F,H--49404535(+) GGGTAT/GTCTGA 1 -- int19Minor allele frequency- G:0.07NA NS EA WA 798

    HapMap Linkage Disequilibrium report for NUCB1 (49403307 - 49426629 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for NUCB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670526CNV Deletion23128226
    nsv833855CNV Loss17160897
    nsv518164CNV Loss19592680
    nsv833857CNV Loss17160897
    nsv138250CNV Loss16902084
    nsv912245CNV Loss21882294
    nsv833856CNV Loss17160897
    nsv470148CNV Gain18288195
    dgv3969n71CNV Gain21882294
    nsv9739CNV Gain+Loss18304495

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NUCB1
    DNA2.0 Custom Variant and Variant Library Synthesis for NUCB1

    (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: 601323    OMIM disorders: --


    Find genes that share disorders with NUCB1           About GenesLikeMe

    1 Novoseek inferred disease relationship for NUCB1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 5 7866567 (4)

    Genetic Association Database (GAD): NUCB1

    Export disorders for NUCB1 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 NUCB1 gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with NUCB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Organization of the human gene for nucleobindin (NUC) and its chromosomal assignment to 19q13.2-q13.4. (PubMed id 8661046)1, 2, 3, 9 Miura K.... Kurosawa Y. (Genomics 1996)
    2. Molecular cloning of nucleobindin, a novel DNA-binding protein that contains both a signal peptide and a leucine zipper structure. (PubMed id 1520323)1, 2, 9 Miura K.... Kanai Y. (Biochem. Biophys. Res. Commun. 1992)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Structural studies on the Ca2+-binding domain of human nucleobindin (Calnuc). (PubMed id 15287731)1, 2 de Alba E. and Tjandra N. (Biochemistry 2004)
    5. 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. (Genome Res. 2004)
    6. Interaction of the protein nucleobindin with G alpha i2, as revealed by the yeast two-hybrid system. (PubMed id 7589456)1, 2 Mochizuki N.... Insel P.A. (FEBS Lett. 1995)
    7. Nucleobindin 1 controls the unfolded protein response by inhibiting ATF6 activation. (PubMed id 17686766)1, 9 Tsukumo Y....Tsuruo T. (J. Biol. Chem. 2007)
    8. Upregulation of nucleobindin expression in human-activated lymphocytes and non-Hodgkin's lymphoma. (PubMed id 9589460)1, 9 Kubota T....Maruyama K. (Pathol. Int. 1998)
    9. A novel endoplasmic reticulum export signal: proline at the +2-position from the signal peptide cleavage site. (PubMed id 19656946)1, 9 Tsukumo Y....Tomida A. (J. Biol. Chem. 2009)
    10. Calcium-binding activity of nucleobindin mediated by an EF hand moiety. (PubMed id 8147883)1, 9 Miura K....Kanai Y. (Biochem. Biophys. Res. Commun. 1994)

    (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: 4924 HGNC: 8043 AceView: NUCB1 Ensembl:ENSG00000104805 euGenes: HUgn4924
    ECgene: NUCB1 H-InvDB: NUCB1

    (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)
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    NameDescription
    PharmGKB entry for NUCB1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NUCB1 gene:
    Search GeneIP for patents involving NUCB1

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



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