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    NIN ninein [ Homo sapiens (human) ]

    Gene ID: 51199, updated on 4-Nov-2018

    Summary

    Official Symbol
    NINprovided by HGNC
    Official Full Name
    nineinprovided by HGNC
    Primary source
    HGNC:HGNC:14906
    See related
    Ensembl:ENSG00000100503 MIM:608684; Vega:OTTHUMG00000029569
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SCKL7
    Summary
    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]
    Expression
    Ubiquitous expression in lymph node (RPKM 13.5), appendix (RPKM 9.8) and 24 other tissues See more
    Orthologs

    Genomic context

    See NIN in Genome Data Viewer
    Location:
    14q22.1
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (50719763..50831140, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (51186481..51297839, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 452, pseudogene Neighboring gene salvador family WW domain containing protein 1 Neighboring gene ZFP64 zinc finger protein pseudogene 1 Neighboring gene uncharacterized LOC105370489 Neighboring gene uncharacterized LOC105370491 Neighboring gene abhydrolase domain containing 12B

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Common genetic variation and performance on standardized cognitive tests.
    NHGRI GWA Catalog
    Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
    NHGRI GWA Catalog
    Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1565

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    centriole-centriole cohesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    centrosome localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    centrosome localization TAS
    Traceable Author Statement
    more info
    PubMed 
    centrosome-templated microtubule nucleation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    collateral sprouting IEA
    Inferred from Electronic Annotation
    more info
     
    corpus callosum morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    corticospinal tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule anchoring at centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    microtubule anchoring at centrosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of microtubule polymerization IEA
    Inferred from Electronic Annotation
    more info
     
    protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    apical part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    axonal growth cone IEA
    Inferred from Electronic Annotation
    more info
     
    centriolar subdistal appendage IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    centriole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ciliary transition fiber IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule minus-end IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitotic spindle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitotic spindle pole IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    pericentriolar material IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    pericentriolar material IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    spindle pole IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    ninein
    Names
    glycogen synthase kinase 3 beta-interacting protein
    hNinein
    ninein (GSK3B interacting protein)
    ninein centrosomal protein

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032968.1 RefSeqGene

      Range
      5001..116359
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016350.4NP_057434.4  ninein isoform 6

      See identical proteins and their annotated locations for NP_057434.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate in-frame exon in the central coding region and uses a distinct 3' coding region and 3' UTR, compared to variant 2. The resulting isoform (6) lacks an internal segment and has a shorter and distinct C-terminus, compared to isoform 2.
      Source sequence(s)
      AF302773, BC090932
      Consensus CDS
      CCDS32078.2
      UniProtKB/Swiss-Prot
      Q8N4C6
      Related
      ENSP00000324210.10, ENST00000324330.13
      Conserved Domains (2) summary
      pfam05262
      Location:304515
      Borrelia_P83; Borrelia P83/100 protein
      cl25732
      Location:4251247
      SMC_N; RecF/RecN/SMC N terminal domain
    2. NM_020921.3NP_065972.3  ninein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is the longest transcript and it encodes the longest isoform (2).
      Source sequence(s)
      AF212162, AF223937, AF223938, AF302773, AL606834, AY736182, BC090932, CR993064
      UniProtKB/Swiss-Prot
      Q8N4C6
      UniProtKB/TrEMBL
      Q5XUU0
      Related
      ENSP00000245441.5, ENST00000245441.9
      Conserved Domains (6) summary
      COG1196
      Location:9201648
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:14322095
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cd16269
      Location:791802
      GBP_C; coiled coil [structural motif]
      cl19219
      Location:475567
      DUF342; Protein of unknown function (DUF342)
      cl20817
      Location:704820
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23750
      Location:411504
      vATP-synt_E; ATP synthase (E/31 kDa) subunit
    3. NM_182944.2NP_891989.2  ninein isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) contains a different 3' coding region and 3' UTR when compared to variant 2. The resulting isoform (1) has a distinct and shorter C-terminus, as compared to isoform 2.
      Source sequence(s)
      AF212162, AF223937, AF302773, AY736182, BC034708, BC090932, CR993064
      UniProtKB/Swiss-Prot
      Q8N4C6
      UniProtKB/TrEMBL
      Q5XUU0
      Related
      ENSP00000412391.1, ENST00000453196.5
      Conserved Domains (5) summary
      COG1196
      Location:9201648
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd16269
      Location:791802
      GBP_C; coiled coil [structural motif]
      cl19219
      Location:475567
      DUF342; Protein of unknown function (DUF342)
      cl20817
      Location:704820
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23750
      Location:411504
      vATP-synt_E; ATP synthase (E/31 kDa) subunit
    4. NM_182946.1NP_891991.1  ninein isoform 5

      See identical proteins and their annotated locations for NP_891991.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has multiple differences in the coding region and 3' UTR when compared to variant 2. The resulting isoform (5) has a distinct and shorter C-terminus as compared to isoform 2. Isoform 5 has also been referred to as hNinein-Lm.
      Source sequence(s)
      AB046785, AF212162, AF223937, AF223939, AF302773, AK026083, AW505195
      Consensus CDS
      CCDS32079.1
      UniProtKB/Swiss-Prot
      Q8N4C6
      Related
      ENSP00000371472.3, OTTHUMP00000236249, ENST00000382041.7, OTTHUMT00000395207
      Conserved Domains (5) summary
      COG1196
      Location:9201648
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd16269
      Location:791802
      GBP_C; coiled coil [structural motif]
      cl19219
      Location:475567
      DUF342; Protein of unknown function (DUF342)
      cl20817
      Location:704820
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23750
      Location:411504
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

      Range
      50719763..50831140 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449622.1XP_024305390.1  ninein isoform X1

      Conserved Domains (3) summary
      pfam04111
      Location:8591003
      APG6; Autophagy protein Apg6
      cl25732
      Location:437855
      SMC_N; RecF/RecN/SMC N terminal domain
      cl28159
      Location:335455
      Aminotran_5; Aminotransferase class-V
    2. XM_011536822.2XP_011535124.1  ninein isoform X3

      Conserved Domains (5) summary
      COG1196
      Location:4551277
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd16269
      Location:821832
      GBP_C; coiled coil [structural motif]
      cl19219
      Location:505597
      DUF342; Protein of unknown function (DUF342)
      cl20817
      Location:734850
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23750
      Location:441534
      vATP-synt_E; ATP synthase (E/31 kDa) subunit
    3. XM_011536823.2XP_011535125.1  ninein isoform X4

      UniProtKB/Swiss-Prot
      Q8N4C6
      Conserved Domains (5) summary
      COG1196
      Location:9261654
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd16269
      Location:797808
      GBP_C; coiled coil [structural motif]
      cl19219
      Location:481573
      DUF342; Protein of unknown function (DUF342)
      cl20817
      Location:710826
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23750
      Location:417510
      vATP-synt_E; ATP synthase (E/31 kDa) subunit
    4. XM_011536819.3XP_011535121.1  ninein isoform X2

      Conserved Domains (5) summary
      COG1196
      Location:9501678
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd16269
      Location:821832
      GBP_C; coiled coil [structural motif]
      cl19219
      Location:505597
      DUF342; Protein of unknown function (DUF342)
      cl20817
      Location:734850
      GBP_C; Guanylate-binding protein, C-terminal domain
      cl23750
      Location:441534
      vATP-synt_E; ATP synthase (E/31 kDa) subunit

    RNA

    1. XR_001750349.2 RNA Sequence

    2. XR_001750346.2 RNA Sequence

      Related
      ENST00000476352.5
    3. XR_001750344.2 RNA Sequence

    4. XR_001750347.2 RNA Sequence

    5. XR_001750350.2 RNA Sequence

    6. XR_001750345.2 RNA Sequence

    7. XR_001750348.2 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_182945.1: Suppressed sequence

      Description
      NM_182945.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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