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    NIN ninein [ Homo sapiens (human) ]

    Gene ID: 51199, updated on 6-Jun-2024

    Summary

    Official Symbol
    NINprovided by HGNC
    Official Full Name
    nineinprovided by HGNC
    Primary source
    HGNC:HGNC:14906
    See related
    Ensembl:ENSG00000100503 MIM:608684; AllianceGenome:HGNC:14906
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NIN in Genome Data Viewer
    Location:
    14q22.1
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (50719763..50831503, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (44925893..45037887, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (51186481..51297880, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 452, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:51123951-51124450 Neighboring gene salvador family WW domain containing protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8361 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5725 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5726 Neighboring gene ZFP64 zinc finger protein pseudogene 1 Neighboring gene uncharacterized LOC124903313 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:51210620-51211819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8367 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8368 Neighboring gene uncharacterized LOC105370489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8369 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5729 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5730 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5731 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5732 Neighboring gene small nucleolar RNA U83B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5733 Neighboring gene abhydrolase domain containing 12B Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:51359698-51360520 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:51362989-51363812

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Seckel syndrome 7
    MedGen: C3553870 OMIM: 614851 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1565

    Gene Ontology Provided by GOA

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

    NEW Try the new Transcript table

    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_032968.2 RefSeqGene

      Range
      5341..116740
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_016350.5NP_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, AL133485, BC090932
      Consensus CDS
      CCDS32078.2
      UniProtKB/TrEMBL
      A0A0B4J215
      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_020921.4NP_065972.4  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)
      AL133485, AL606834
      Consensus CDS
      CCDS91876.1
      UniProtKB/TrEMBL
      A0A6F7YPF6
      Related
      ENSP00000436092.2, ENST00000530997.7
      Conserved Domains (3) summary
      COG1196
      Location:9201648
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:407825
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      NF033454
      Location:764922
      BREX_5_MTaseX; BREX-5 system adenine-specific DNA-methyltransferase PglX
    3. NM_182944.3NP_891989.3  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)
      AL133485, AL606834
      Consensus CDS
      CCDS45103.1
      UniProtKB/TrEMBL
      A0A6F7YPF6, C9J066
      Related
      ENSP00000412391.1, ENST00000453196.6
      Conserved Domains (4) summary
      COG1196
      Location:9201648
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:407825
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      TIGR04523
      Location:15081957
      Mplasa_alph_rch; helix-rich Mycoplasma protein
      NF033454
      Location:764922
      BREX_5_MTaseX; BREX-5 system adenine-specific DNA-methyltransferase PglX
    4. NM_182946.2NP_891991.2  ninein isoform 5

      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)
      AL133485, AL606834
      Consensus CDS
      CCDS32079.1
      UniProtKB/Swiss-Prot
      A6NDB8, B7WPA3, C9JSB6, C9JSG2, C9JXL2, Q5BKU3, Q6P0P6, Q8N4C6, Q9BWU6, Q9C012, Q9C013, Q9C014, Q9H5I6, Q9HAT7, Q9HBY5, Q9HCK7, Q9UH61
      UniProtKB/TrEMBL
      A0A6F7YPF6
      Related
      ENSP00000371472.3, ENST00000382041.7
      Conserved Domains (3) summary
      COG1196
      Location:9201648
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      TIGR02168
      Location:407825
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      NF033454
      Location:764922
      BREX_5_MTaseX; BREX-5 system adenine-specific DNA-methyltransferase PglX

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      50719763..50831503 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431452.1XP_047287408.1  ninein isoform X25

    2. XM_047431439.1XP_047287395.1  ninein isoform X11

      UniProtKB/TrEMBL
      A0A6F7YPF6
    3. XM_047431453.1XP_047287409.1  ninein isoform X23

    4. XM_047431438.1XP_047287394.1  ninein isoform X10

      UniProtKB/TrEMBL
      A0A6F7YPF6
      Related
      ENSP00000374519.3, ENST00000389869.7
    5. XM_047431450.1XP_047287406.1  ninein isoform X23

    6. XM_047431442.1XP_047287398.1  ninein isoform X15

      UniProtKB/TrEMBL
      A0A0B4J215
    7. XM_047431432.1XP_047287388.1  ninein isoform X3

      UniProtKB/TrEMBL
      A0A6F7YPF6
    8. XM_047431445.1XP_047287401.1  ninein isoform X18

      UniProtKB/TrEMBL
      A0A0B4J215
    9. XM_047431440.1XP_047287396.1  ninein isoform X13

      UniProtKB/TrEMBL
      A0A0B4J215
      Related
      ENSP00000516509.1, ENST00000706706.1
    10. XM_047431434.1XP_047287390.1  ninein isoform X6

      UniProtKB/TrEMBL
      A0A6F7YPF6
    11. XM_047431441.1XP_047287397.1  ninein isoform X14

      UniProtKB/TrEMBL
      A0A0B4J215
    12. XM_047431431.1XP_047287387.1  ninein isoform X2

      UniProtKB/TrEMBL
      A0A6F7YPF6
    13. XM_047431443.1XP_047287399.1  ninein isoform X16

      UniProtKB/TrEMBL
      A0A0B4J215
    14. XM_011536822.3XP_011535124.1  ninein isoform X12

      UniProtKB/TrEMBL
      A0A0B4J215
      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
    15. XM_047431433.1XP_047287389.1  ninein isoform X4

      UniProtKB/TrEMBL
      A0A6F7YPF6
    16. XM_024449622.2XP_024305390.1  ninein isoform X1

      UniProtKB/TrEMBL
      A0A6F7YPF6
      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
    17. XM_047431449.1XP_047287405.1  ninein isoform X22

      UniProtKB/TrEMBL
      A0A0B4J215
    18. XM_047431451.1XP_047287407.1  ninein isoform X24

      UniProtKB/TrEMBL
      A0A0B4J215
    19. XM_047431446.1XP_047287402.1  ninein isoform X19

      UniProtKB/TrEMBL
      A0A0B4J215
    20. XM_047431447.1XP_047287403.1  ninein isoform X20

      UniProtKB/TrEMBL
      A0A0B4J215
    21. XM_047431435.1XP_047287391.1  ninein isoform X7

      UniProtKB/TrEMBL
      A0A6F7YPF6
    22. XM_047431444.1XP_047287400.1  ninein isoform X17

      UniProtKB/TrEMBL
      A0A0B4J215
    23. XM_011536819.4XP_011535121.1  ninein isoform X5

      UniProtKB/TrEMBL
      A0A6F7YPF6
      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
    24. XM_047431437.1XP_047287393.1  ninein isoform X9

      UniProtKB/TrEMBL
      E9PN67, Q5XUU0
      Related
      ENSP00000432924.1, ENST00000476352.5
    25. XM_047431448.1XP_047287404.1  ninein isoform X21

      UniProtKB/TrEMBL
      A0A0B4J215
    26. XM_047431436.1XP_047287392.1  ninein isoform X8

      UniProtKB/TrEMBL
      Q5XUU0
    27. XM_047431454.1XP_047287410.1  ninein isoform X26

      UniProtKB/TrEMBL
      A0A0B4J215
      Related
      ENSP00000431485.2, ENST00000485005.2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      44925893..45037887 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376195.1XP_054232170.1  ninein isoform X25

    2. XM_054376181.1XP_054232156.1  ninein isoform X11

      UniProtKB/TrEMBL
      A0A6F7YPF6
    3. XM_054376196.1XP_054232171.1  ninein isoform X23

    4. XM_054376180.1XP_054232155.1  ninein isoform X10

      UniProtKB/TrEMBL
      A0A6F7YPF6
    5. XM_054376193.1XP_054232168.1  ninein isoform X23

    6. XM_054376185.1XP_054232160.1  ninein isoform X15

      UniProtKB/TrEMBL
      A0A0B4J215
    7. XM_054376173.1XP_054232148.1  ninein isoform X3

      UniProtKB/TrEMBL
      A0A6F7YPF6
    8. XM_054376188.1XP_054232163.1  ninein isoform X18

      UniProtKB/TrEMBL
      A0A0B4J215
    9. XM_054376183.1XP_054232158.1  ninein isoform X13

      UniProtKB/TrEMBL
      A0A0B4J215
    10. XM_054376176.1XP_054232151.1  ninein isoform X6

      UniProtKB/TrEMBL
      A0A6F7YPF6
    11. XM_054376184.1XP_054232159.1  ninein isoform X14

      UniProtKB/TrEMBL
      A0A0B4J215
    12. XM_054376172.1XP_054232147.1  ninein isoform X2

      UniProtKB/TrEMBL
      A0A6F7YPF6
    13. XM_054376182.1XP_054232157.1  ninein isoform X12

      UniProtKB/TrEMBL
      A0A0B4J215
    14. XM_054376171.1XP_054232146.1  ninein isoform X1

      UniProtKB/TrEMBL
      A0A6F7YPF6
    15. XM_054376174.1XP_054232149.1  ninein isoform X4

      UniProtKB/TrEMBL
      A0A6F7YPF6
    16. XM_054376186.1XP_054232161.1  ninein isoform X16

      UniProtKB/TrEMBL
      A0A0B4J215
    17. XM_054376189.1XP_054232164.1  ninein isoform X19

      UniProtKB/TrEMBL
      A0A0B4J215
    18. XM_054376177.1XP_054232152.1  ninein isoform X7

      UniProtKB/TrEMBL
      A0A6F7YPF6
    19. XM_054376175.1XP_054232150.1  ninein isoform X5

      UniProtKB/TrEMBL
      A0A6F7YPF6
    20. XM_054376190.1XP_054232165.1  ninein isoform X20

      UniProtKB/TrEMBL
      A0A0B4J215
    21. XM_054376187.1XP_054232162.1  ninein isoform X17

      UniProtKB/TrEMBL
      A0A0B4J215
    22. XM_054376192.1XP_054232167.1  ninein isoform X22

      UniProtKB/TrEMBL
      A0A0B4J215
    23. XM_054376194.1XP_054232169.1  ninein isoform X24

      UniProtKB/TrEMBL
      A0A0B4J215
    24. XM_054376179.1XP_054232154.1  ninein isoform X9

      UniProtKB/TrEMBL
      Q5XUU0
    25. XM_054376178.1XP_054232153.1  ninein isoform X8

      UniProtKB/TrEMBL
      Q5XUU0
    26. XM_054376191.1XP_054232166.1  ninein isoform X21

      UniProtKB/TrEMBL
      A0A0B4J215
    27. XM_054376197.1XP_054232172.1  ninein isoform X26

      UniProtKB/TrEMBL
      A0A0B4J215

    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.