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

NIPSNAP3B Gene

protein-coding   GIFtS: 47
GCID: GC09P107526

nipsnap homolog 3B (C. elegans)

 Explore 1 disease affiliated with
NIPSNAP3B via our new
 Human Malady Compendium 
Biological research products
for NIPSNAP3B
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Nipsnap Homolog 3B (C. Elegans)1 2
NIPSNAP32 3
SNAP12 3
FLJ112751
Protein NipSnap Homolog 3B2
NipSnap3B3

External Ids:    HGNC: 236411   Entrez Gene: 553352   Ensembl: ENSG000001650287   OMIM: 6088725   UniProtKB: Q9BS923   

Export aliases for NIPSNAP3B gene to outside databases

Previous GC identifers: GC09P102906 GC09P104606 GC09P106566 GC09P077128


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

Entrez Gene summary for NIPSNAP3B:
NIPSNAP3B belongs to a family of proteins with putative roles in vesicular trafficking (Buechler et al., 2004 (PubMed
15177564)).(supplied by OMIM, Mar 2008)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NIPSNAP3B gene promoter:
         CHOP-10   PPAR-gamma1   Nkx6-1   COMP1   c-Myb   PPAR-gamma2   TGIF   POU3F2   C/EBPalpha   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNIPSNAP3B promoter sequence
   Search SABiosciences Chromatin IP Primers for NIPSNAP3B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NIPSNAP3B


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

Entrez Gene cytogenetic band: 9q31.1   Ensembl cytogenetic band:  9q31.1   HGNC cytogenetic band: 9q31.3

NIPSNAP3B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NIPSNAP3B gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P107526:  view genomic region     (about GC identifiers)

Start:
107,526,438 bp from pter      End:
107,539,738 bp from pter
Size:
13,301 bases      Orientation:
plus strand

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

UniProtKB/Swiss-Prot: NPS3B_HUMAN, Q9BS92 (See protein sequence)
Recommended Name: Protein NipSnap homolog 3B  
Size: 247 amino acids; 28313 Da
Secondary accessions: Q5VX30 Q9NUM2

Explore the universe of human proteins at neXtProt for NIPSNAP3B: NX_Q9BS92

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BS92

  • NIPSNAP3B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060846.2  
    ENSEMBL proteins: 
     ENSP00000435209   ENSP00000363894  

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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    NIPSNAP3B for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR012577 NIPSNAP
     IPR011008 Dimeric_a/b-barrel

    Graphical View of Domain Structure for InterPro Entry Q9BS92

    ProtoNet protein and cluster: Q9BS92

    1 Blocks protein family: IPB012577 NIPSNAP

    UniProtKB/Swiss-Prot: NPS3B_HUMAN, Q9BS92
    Similarity: Belongs to the NipSnap family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidNIPSNAP3B 3' UTR sequence
    Inhib. RNA
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    1 GenomeRNAi human phenotype for NIPSNAP3B:
     Decreased p24 protein expressi 

    Animal Models:
         1 MGI phenotypic allele for Nipsnap3b (no phenotypes)

    NIPSNAP3B for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NIPSNAP3B

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 NIPSNAP3B
    Search CenterWatch for drugs/clinical trials and news about NIPSNAP3B / NPS3B 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NIPSNAP3B gene: 
    NM_018376.2  

    Unigene Cluster for NIPSNAP3B:

    Nipsnap homolog 3B (C. elegans)
    Hs.429294  [show with all ESTs]
    Unigene Representative Sequence: BX647652
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000460936 ENST00000374762(uc004bci.3 uc004bcj.1) ENST00000461177


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    hsa-miR-30c-2* hsa-miR-203 hsa-miR-7-2* hsa-miR-374c hsa-miR-655 hsa-miR-30c-1* hsa-miR-7-1* hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidNIPSNAP3B 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AK002137.1 AK310397.1 BC005202.1 BC017914.1 BX647652.1 

    10 DOTS entries:

    DT.92445394  DT.40109354  DT.95347029  DT.40217360  DT.75116842  DT.95266317  DT.91701826  DT.92445391 
    DT.312757  DT.95309384 

    24/297 AceView cDNA sequences (see all 297):

    BQ952282 AA297133 AV728933 BX107655 AL117557 CR615189 T08781 AK091667 
    AI040606 CR622522 AL550077 AA629596 AW118801 AA602985 CR621160 CR609627 
    BF510739 BI758173 BI753199 AV709474 AI129675 C01738 CK820001 AW593019 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for NIPSNAP3B    About this scheme

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


    ECgene alternative splicing isoforms for NIPSNAP3B

    (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

    NIPSNAP3B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGGGAACCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See NIPSNAP3B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NIPSNAP3B

    SOURCE GeneReport for Unigene cluster: Hs.429294
        SABiosciences Custom PCR Arrays for NIPSNAP3B
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NIPSNAP3B

    (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 NIPSNAP3B gene from 4/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nipsnap3b1 , 5 nipsnap homolog 3B (C. elegans)1, 5 81.51(n)1
    78.14(a)1
      4 (28.57 cM)5
    665361  NM_025623.21  NP_079899.11 
     530118805 
    chicken
    (Gallus gallus)
    Aves NIPSNAP3A6
    Uncharacterized protein
    68(a)
    1 → many
    Z(53588282-53597925)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    62(a)
    1 → many
    2(75520098-75527638)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc564662 hypothetical protein MGC56466 70.97(n)   393234  BC049027.1 


    ENSEMBL Gene Tree for NIPSNAP3B (if available)
    TreeFam Gene Tree for NIPSNAP3B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NIPSNAP3B gene
    NIPSNAP12  GBAS2  NIPSNAP3A2  
    1 SIMAP similar gene for NIPSNAP3B using alignment to 3 protein entries:     NPS3B_HUMAN (see all proteins):
    NIPSNAP3A

    NIPSNAP3B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/198 NCBI SNPs in NIPSNAP3B are shown (see all 198    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1495478631,2
    --107524546(+) CTACTA/GTGGAG 1 -- us2k10--------
    rs1917530661,2
    --107524569(+) TTTCCC/TCAAGA 1 -- us2k10--------
    rs1814289031,2
    --107524637(+) AAAGAC/TATCTT 1 -- us2k10--------
    rs756868061,2
    --107524734(+) AAGTAC/TGTTAT 1 -- us2k10--------
    rs1486787871,2
    --107524787(+) ATCCTA/GTCCTT 1 -- us2k10--------
    rs1856685251,2
    --107524979(+) ATTTGC/TTAAAC 1 -- us2k10--------
    rs625659871,2
    C,F,--107525011(+) GAATAA/GGTTCT 1 -- us2k14Minor allele frequency- G:0.16NA 126
    rs1428203821,2
    --107525095(+) TTCTCA/GACACA 1 -- us2k10--------
    rs1510276941,2
    --107525121(+) GGGGAG/TTGGCT 1 -- us2k10--------
    rs24724791,2
    C,F,A,H,--107525165(-) TGTTGA/CCTTCC 1 -- us2k1 tfbs3 trp317Minor allele frequency- C:0.28NS NA WA CSA EA 619

    HapMap Linkage Disequilibrium report for NIPSNAP3B (107526438 - 107539738 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for NIPSNAP3B
         2 CNVs: 96229 96228

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    NIPSNAP3B for disorders           About GeneDecksing

    OMIM gene information: 608872    OMIM disorders: --

    1 disease for NIPSNAP3B:    About MalaCards
    tangier disease

    Human Genome Epidemiology (HuGE) Navigator: NIPSNAP3B (2 documents)

    Export disorders for NIPSNAP3B 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 NIPSNAP3B gene integrated from 9 sources:
    (articles sorted by number of sources associating them with NIPSNAP3B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    4. Human and mouse ABCA1 comparative sequencing and transgenesis studies revealing novel regulatory sequences. (PubMed id 11352567)1, 2 Qiu Y.... Cheng J.-F. (2001)
    5. Expression pattern and raft association of NIPSNAP3 and NIPSNAP4, highly homologous proteins encoded by genes in close proximity to the ATP-binding cassette transporter A1. (PubMed id 15177564)1, 9 Buechler C....Schmitz G. (2004)
    6. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    7. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    8. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)2 Humphray S.J.... Dunham I. (2004)
    9. Eight genes are highly associated with BMD variation in postmenopausal Caucasian women. (PubMed id 19922823)9 Reppe S....Gautvik K.M. (2010)

    (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: 55335 HGNC: 23641 AceView: NIPSNAP3AandNIPSNAP3B Ensembl:ENSG00000165028 euGenes: HUgn55335
    ECgene: NIPSNAP3B H-InvDB: NIPSNAP3B

    (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 NIPSNAP3B 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 NIPSNAP3B gene:
    Search GeneIP for patents involving NIPSNAP3B

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    About This Section

     Browse Kits and Assays available from EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
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    von Willebrand factor
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