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NIN Gene

protein-coding   GIFtS: 58
GCID: GC14M051187

Ninein (GSK3B Interacting Protein)

  See NIN-related diseases
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
Ninein (GSK3B Interacting Protein)1 2     KIAA15653 5
Glycogen Synthase Kinase 3 Beta-Interacting Protein2 3     ninein2
hNinein2 3     Ninein Centrosomal Protein2
SCKL72 5     GSK3B-Interacting Protein3

External Ids:    HGNC: 149061   Entrez Gene: 511992   Ensembl: ENSG000001005037   OMIM: 6086845   UniProtKB: Q8N4C63   

Export aliases for NIN gene to outside databases

Previous GC identifers: GC14M048508 GC14M044982 GC14M049176 GC14M050256 GC14M031312


(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 NIN Gene:
This gene encodes one of the proteins important for centrosomal function. This protein is important for
positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this protein to the
centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced
transcript variants that encode different isoforms have been reported. (provided by RefSeq, Jul 2008)

GeneCards Summary for NIN Gene:
NIN (ninein (GSK3B interacting protein)) is a protein-coding gene. Diseases associated with NIN include seckel syndrome 7, and diabetic cataract. GO annotations related to this gene include GTP binding and calcium ion binding. An important paralog of this gene is NINL.

UniProtKB/Swiss-Prot: NIN_HUMAN, Q8N4C6
Function: Centrosomal protein required in the positioning and anchorage of the microtubule minus-end in epithelial
cells. May also act as a centrosome maturation factor. May play a role in microtubule nucleation. Overexpression
does not perturb nucleation or elongation of microtubules but suppresses release of microtubules

Gene Wiki entry for NIN 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_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NIN gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B3   oct-B2   Nkx2-5   POU2F2   POU2F2C   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNIN promoter sequence
   Search Chromatin IP Primers for NIN

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


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

Entrez Gene cytogenetic band: 14q22.1   Ensembl cytogenetic band:  14q22.1   HGNC cytogenetic band: 14q21-q22

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

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M051187:  view genomic region     (about GC identifiers)

Start:
51,186,481 bp from pter      End:
51,297,839 bp from pter
Size:
111,359 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, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NIN_HUMAN, Q8N4C6 (See protein sequence)
Recommended Name: Ninein  
Size: 2090 amino acids; 243249 Da
Subunit: Homooligomer. Interacts with GSK3B/GSK3-beta via its C-terminus domain. Interacts with C14ORF166, such
interaction may prevent its phosphorylation by GSK3B. Interacts with AUNIP (via N-terminus). Identified in a
complex with AUNIP and AURKA
Developmental stage: In interphase cells, it is localized in the centrosome. Decreases in metaphase and anaphase
and reappears in telophase
Miscellaneous: Antibodies against NIN are present in sera from patients with autoimmune diseases that developed
autoantibodies against centrosomal proteins
Sequence caution: Sequence=AAH65521.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAH65521.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
Sequence=AAK00628.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors; Sequence=AAK00629.1;
Type=Miscellaneous discrepancy; Note=Several sequencing errors and frameshifts; Sequence=AAK00630.1;
Type=Miscellaneous discrepancy; Note=Several sequencing errors; Sequence=BAB13391.2; Type=Erroneous initiation;
Note=Translation N-terminally shortened; Sequence=BAB15640.1; Type=Erroneous initiation; Note=Translation
N-terminally extended;
Secondary accessions: A6NDB8 B7WPA3 C9JSB6 C9JSG2 C9JXL2 Q5BKU3 Q6P0P6 Q9BWU6 Q9C012 Q9C013
Q9C014 Q9H5I6 Q9HAT7 Q9HBY5 Q9HCK7 Q9UH61
Alternative splicing: 9 isoforms:  Q8N4C6-1   Q8N4C6-2   Q8N4C6-10   Q8N4C6-4   Q8N4C6-5   Q8N4C6-6   Q8N4C6-7   Q8N4C6-9   
Q8N4C6-11   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NIN: NX_Q8N4C6

Explore proteomics data for NIN at MOPED

Post-translational modifications: 

  • Phosphorylated by AURKA/Aurora kinase A and PKA kinases but not CK2 or AURKB/ Aurora kinase B1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (4 alternative transcripts): 
    NP_057434.4  NP_065972.3  NP_891989.2  NP_891991.1  

    ENSEMBL proteins: 
     ENSP00000432924   ENSP00000436092   ENSP00000371474   ENSP00000374519   ENSP00000371472  
     ENSP00000433717   ENSP00000431485   ENSP00000398641   ENSP00000473530   ENSP00000431826  
     ENSP00000245441   ENSP00000412391   ENSP00000374518   ENSP00000324210  

    NIN Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for NIN
    GenScript Custom Purified and Recombinant Proteins Services for NIN
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NIN

     
    Search eBioscience for Proteins for NIN 

     
    Search antibodies-online for proteins for NIN 

     
    Search antibodies-online for peptides for NIN

    NIN Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of NIN
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for NIN
    Novus Biologicals NIN Antibodies
    Search for Antibodies for NIN at Abcam
    Cloud-Clone Corp. Antibodies for NIN
    Search ThermoFisher Antibodies for NIN
    antibodies-online antibodies for NIN (2 products) 

    NIN Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for NIN
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NIN
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NIN
    Cloud-Clone Corp. CLIAs for NIN
    Search eBioscience for ELISAs for NIN 
    antibodies-online kits for NIN (4 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

    2 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom

    Graphical View of Domain Structure for InterPro Entry Q8N4C6

    ProtoNet protein and cluster: Q8N4C6

    UniProtKB/Swiss-Prot: NIN_HUMAN, Q8N4C6
    Domain: The coiled coil region from Asn-1611 to Pro-1693 is necessary and sufficient for the targeting to
    centrosome
    Similarity: Contains 5 EF-hand domains


    Find genes that share domains with NIN           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: NIN_HUMAN, Q8N4C6
    Function: Centrosomal protein required in the positioning and anchorage of the microtubule minus-end in epithelial
    cells. May also act as a centrosome maturation factor. May play a role in microtubule nucleation. Overexpression
    does not perturb nucleation or elongation of microtubules but suppresses release of microtubules

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI11004522
    GO:0005525GTP binding IEA--
         
    Find genes that share ontologies with NIN           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for NIN:
     Increased HPV18 LCR reporter a 

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target NIN:
    hsa-mir-93-5p (MIRT027981), hsa-mir-375 (MIRT019688), hsa-mir-9-5p (MIRT021379), hsa-mir-21-5p (MIRT030668), hsa-mir-16-5p (MIRT031443), hsa-mir-130b-3p (MIRT020128), hsa-mir-18a-3p (MIRT040789), hsa-mir-373-3p (MIRT002535), hsa-mir-125a-5p (MIRT045738), hsa-mir-148b-3p (MIRT019292), hsa-mir-192-5p (MIRT026146), hsa-mir-103a-3p (MIRT027004)

    Block miRNA regulation of human, mouse, rat NIN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NIN (see all 18):
    hsa-miR-125a-5p hsa-miR-429 hsa-miR-106a hsa-miR-519a hsa-miR-125b hsa-miR-93 hsa-miR-200b hsa-miR-526b*
    SwitchGear 3'UTR luciferase reporter plasmidNIN 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NIN
    Predesigned siRNA for gene silencing in human, mouse, rat NIN

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

    Clone
    Products:
         
    OriGene clones in human, mouse for NIN (see all 22)
    OriGene ORF clones in mouse, rat for NIN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NIN (NM_004148)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NIN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NIN

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NIN
    Browse ESI BIO Cell Lines and PureStem Progenitors for NIN 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NIN


    (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
    NIN_HUMAN, Q8N4C6: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Component of the
    core centrosome. Arranged in a tubular conformation with an open and a closed end within the centrosome. In the
    mother centrosome, it localizes at both ends of the centrosome tube, including the site of centrosome
    duplication, while in the daughter centrosome it is present only at the closed end. Requires PCM1 for centrosome
    localization
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus3
    cytosol2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IDA--
    GO:0005813centrosome IDA--
    GO:0005814centriole IEA--
    GO:0005874microtubule IEA--

    Find genes that share ontologies with NIN           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NIN
    Interactions:

        GeneGlobe Interaction Network for NIN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for NIN (Q8N4C61, 2, 3 ENSP000002454414) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GSK3BP498411, 2, 3, ENSP000003248064EBI-1164022,EBI-373586 MINT-4049773 I2D: score=5 STRING: ENSP00000324806
    ABI1Q8IZP02, 3, ENSP000003653124MINT-45993 I2D: score=2 STRING: ENSP00000365312
    AXIN1O151692, 3, ENSP000002623204MINT-7229769 I2D: score=1 STRING: ENSP00000262320
    C14orf166Q9Y2241, 3, ENSP000002617004EBI-1164022,EBI-1104547 I2D: score=3 STRING: ENSP00000261700
    BICD1Q96G012, 3, ENSP000002814744MINT-4049971 I2D: score=2 STRING: ENSP00000281474
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0034454microtubule anchoring at centrosome IEA--
    GO:0051642centrosome localization TAS16154161
    GO:0090222centrosome-templated microtubule nucleation IEA--

    Find genes that share ontologies with NIN           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)
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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 NIN

    1 HMDB Compound for NIN    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    1 Novoseek inferred chemical compound relationship for NIN gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leucine 17 1 15190203 (1)



    Find genes that share compounds with NIN           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 NIN gene (5 alternative transcripts): 
    NM_016350.4  NM_020921.3  NM_182944.2  NM_182946.1  NM_182945.1  

    Unigene Cluster for NIN:

    Ninein (GSK3B interacting protein)
    Hs.310429  [show with all ESTs]
    Unigene Representative Sequence: NM_020921
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000476352 ENST00000530997 ENST00000555984 ENST00000382043 ENST00000389869
    ENST00000382041(uc001wym.2 uc001wyk.3 uc001wyp.1) ENST00000530853(uc001wyn.3)
    ENST00000485005 ENST00000480476 ENST00000453401 ENST00000474937 ENST00000486950
    ENST00000486200 ENST00000496749 ENST00000463419 ENST00000245441(uc001wyi.3)
    ENST00000453196(uc001wyo.3) ENST00000389868(uc001wyj.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NIN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NIN (see all 18):
    hsa-miR-125a-5p hsa-miR-429 hsa-miR-106a hsa-miR-519a hsa-miR-125b hsa-miR-93 hsa-miR-200b hsa-miR-526b*
    SwitchGear 3'UTR luciferase reporter plasmidNIN 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NIN
    Predesigned siRNA for gene silencing in human, mouse, rat NIN
    Clone
    Products:
         
    OriGene clones in human, mouse for NIN (see all 22)
    OriGene ORF clones in mouse, rat for NIN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NIN (NM_004148)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NIN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NIN
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for NIN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NIN
      QuantiTect SYBR Green Assays in human, mouse, rat NIN
      QuantiFast Probe-based Assays in human, mouse, rat NIN

    Additional mRNA sequence: 

    AB046785.2 AF186776.1 AF212162.2 AF223937.1 AF223938.1 AF223939.1 AF302773.2 AK025652.1 
    AK026083.1 AK027054.1 AL359571.1 AY027794.1 AY027795.1 AY027796.1 AY736182.1 AY736183.1 
    BC034708.2 BC065521.1 BC090932.1 BC141977.1 

    23 DOTS entries:

    DT.411475  DT.120758029  DT.95171085  DT.445078  DT.100778149  DT.95171080  DT.101970522  DT.106975 
    DT.99992757  DT.97846526  DT.120757980  DT.86847508  DT.91745656  DT.92026148  DT.92461863  DT.120758020 
    DT.120758071  DT.40212388  DT.91745655  DT.91886690  DT.91916468  DT.92050985  DT.92461861 

    Selected AceView cDNA sequences (see all 222):

    BM791966 AI744641 BG612081 BU607537 BF438747 AI632254 BQ024145 H47908 
    NM_182946 AA776405 BQ024972 NM_020921 BE504448 AI446428 NM_182945 BM988576 
    NM_182944 AA631557 CA308224 BM458320 AA481587 BM458440 AB046785 BX507226 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NIN (see all 14)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a ·
    SP1:                    -     -                                   -     -                 -     -                                                               
    SP2:                    -     -                                   -     -                 -     -                                                               
    SP3:                    -     -                                   -     -                 -     -                                                               
    SP4:                                                              -     -                 -     -                                                               
    SP5:                    -     -           -                       -     -                 -     -                                                               

    ExUns: 15b ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34a · 34b ·
    SP1:                    -                                                                                                                 -     -     -         
    SP2:                    -                 -                                                                                               -     -     -         
    SP3:                    -                                                                                                     -           -     -     -         
    SP4:                    -                 -                                                                                   -           -     -     -         
    SP5:                                                                                                                                                            

    ExUns: 34c · 34d · 34e ^ 35a · 35b · 35c
    SP1:                                    
    SP2:  -     -     -                     
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for NIN

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


    NIN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebral Cortex
    NIN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NIN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.310429

    UniProtKB/Swiss-Prot: NIN_HUMAN, Q8N4C6
    Tissue specificity: Ubiquitous. Highly expressed in heart and skeletal muscle. Isoform 1 is more expressed than
    isoform 5

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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.

    Orthologs for NIN gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nin1 , 5 ninein1, 5 81.67(n)1
    79.24(a)1
      12 (28.94 cM)5
    180801  NM_001081453.11  NP_001074922.11 
     700114355 
    chicken
    (Gallus gallus)
    Aves NIN1 ninein (GSK3B interacting protein) 66.34(n)
    61.26(a)
      428928  XM_004936503.1  XP_004936560.1 
    lizard
    (Anolis carolinensis)
    Reptilia NIN6
    ninein (GSK3B interacting protein)
    59(a)
    1 ↔ 1
    GL343845.1(1137-54829)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.204622 Transcribed sequence with weak similarity to protein more 76(n)    142026540 
    zebrafish
    (Danio rerio)
    Actinopterygii nin6
    ninein (GSK3B interacting protein)
    22(a)
    1 ↔ 1
    13(37202200-37246811) ENSDARG00000060298
    fruit fly
    (Drosophila melanogaster)
    Insecta Bsg25D6
    Blastoderm-specific gene 25D
    17(a)
    1 → many
    2L(5271728-5278558)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NIN gene
    NINL2  
    1 SIMAP similar gene for NIN using alignment to 10 protein entries:     NIN_HUMAN (see all proteins):
    NIN/PDGFRB fusion

    Find genes that share paralogs with NIN           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 NIN (see all 2623)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1874645171,2,,4
    CSeckel syndrome 7 (SCKL7)4 --32206880(+) GGTCCC/TGTTTC 7 Q R mis1 int10--------
    VAR_0690844
    Seckel syndrome 7 (SCKL7)4--see VAR_0690842 N S mis40--------
    rs596405591,2
    C--31347968(+) TTTTT-/TTAAAAGA 4 -- int10--------
    rs350744721,2
    C--31381640(+) ATCAT-/GAGGTC 4 -- int10--------
    rs2021663591,2
    C--31420340(+) TGTTAA/CAAAAA 4 -- int10--------
    rs1511725571,2
    C--31425297(+) GTGGGC/TTGGCA 4 -- us2k10--------
    rs1840150421,2
    --32168777(+) AGGTTA/GGTATA 1 -- ds50010--------
    rs1877661601,2
    --32168831(+) TTTGGC/TCAACA 1 -- ds50010--------
    rs1433178841,2
    --32168841(+) ATTTCA/CAATTC 1 -- ds50010--------
    rs101335181,2
    C,F,A,H--32168876(+) ACATGG/CTTTTA 1 -- ds500115Minor allele frequency- C:0.48NS EA NA WA CSA 792

    HapMap Linkage Disequilibrium report for NIN (51186481 - 51297839 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for NIN:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832794CNV Gain17160897

    Human Gene Mutation Database (HGMD): NIN
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NIN
    DNA2.0 Custom Variant and Variant Library Synthesis for NIN

    (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.)
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    OMIM gene information: 608684   
    OMIM disorders: 614851  
    UniProtKB/Swiss-Prot: NIN_HUMAN, Q8N4C6
  • Seckel syndrome 7 (SCKL7) [MIM:614851]: A rare autosomal recessive disorder characterized by
    proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe
    microcephaly with a bird-headed like appearance, and mental retardation. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 4 diseases for NIN:    
    About MalaCards
    seckel syndrome 7    diabetic cataract    chediak-higashi syndrome    primary autosomal recessive microcephalies and seckel syndrome spectrum disorders

    1 disease from the University of Copenhagen DISEASES database for NIN:
    Diabetic cataract

    Find genes that share disorders with NIN           About GenesLikeMe

    Genetic Association Database (GAD): NIN
    Human Genome Epidemiology (HuGE) Navigator: NIN (5 documents)

    Export disorders for NIN 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 NIN gene, integrated from 10 sources (see all 62):
    (articles sorted by number of sources associating them with NIN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic organization and molecular characterization of the human ninein gene. (PubMed id 11162463)1, 2, 3, 9 Hong Y.-R.... Howng S.-L. (Biochem. Biophys. Res. Commun. 2000)
    2. Cloning and characterization of a novel human ninein protein that interacts with the glycogen synthase kinase 3beta. (PubMed id 11004522)1, 2, 3, 9 Hong Y.-R....Howng S.-L. (Biochim. Biophys. Acta 2000)
    3. CEP110 and ninein are located in a specific domain of the centrosome associated with centrosome maturation. (PubMed id 11956314)1, 2, 9 Ou Y.Y.... Rattner J.B. (J. Cell Sci. 2002)
    4. A novel ninein-interaction protein, CGI-99, blocks ninein phosphorylation by GSK3beta and is highly expressed in brain tumors. (PubMed id 15147888)1, 2, 9 Howng S.-L....Hong Y.-R. (FEBS Lett. 2004)
    5. Human ninein is a centrosomal autoantigen recognized by CREST patient sera and plays a regulatory role in microtubule nucleation. (PubMed id 15190203)1, 2, 9 Stillwell E.E.... Joshi H.C. (Cell Cycle 2004)
    6. Molecular characterization of human ninein protein: two distinct subdomains required for centrosomal targeting and regulating signals in cell cycle. (PubMed id 12927815)1, 2, 9 Chen C.-H....Hong Y.-R. (Biochem. Biophys. Res. Commun. 2003)
    7. Assembly of centrosomal proteins and microtubule organization depends on PCM-1. (PubMed id 12403812)1, 2, 9 Dammermann A. and Merdes A. (J. Cell Biol. 2002)
    8. Autoantibodies to a group of centrosomal proteins in human autoimmune sera reactive with the centrosome. (PubMed id 9506584)1, 2, 9 Mack G.J....Rattner J.B. (Arthritis Rheum. 1998)
    9. Spectrum of centrosome autoantibodies in childhood varicella and post-varicella acute cerebellar ataxia. (PubMed id 14503922)1, 2, 9 Fritzler M.J.... Rattner J.B. (BMC Pediatr. 2003)
    10. Centrosome-related genes, genetic variation, and risk of breast cancer. (PubMed id 20508983)1, 4 Olson J.E....Couch F.J. (Breast Cancer Res. Treat. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 51199 HGNC: 14906 AceView: NIN Ensembl:ENSG00000100503 euGenes: HUgn51199
    ECgene: NIN H-InvDB: NIN

    (According to HUGE)
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    HUGE: KIAA1565

    (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 NIN Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NIN 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 NIN gene:
    Search GeneIP for patents involving NIN

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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