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NIN ninein [ Homo sapiens (human) ]

Gene ID: 51199, updated on 12-Aug-2022

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
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Genomic context

See NIN in Genome Data Viewer
Location:
14q22.1
Exon count:
35
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (50719763..50831503, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (44925893..45037297, 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 salvador family WW domain containing protein 1 Neighboring gene ZFP64 zinc finger protein pseudogene 1 Neighboring gene uncharacterized LOC124903313 Neighboring gene uncharacterized LOC105370489 Neighboring gene small nucleolar RNA U83B 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 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

Homology

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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
located_in centriole IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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_032968.1 RefSeqGene

    Range
    5001..116359
    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/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_020921.4NP_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
    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
    UniProtKB/TrEMBL
    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
    Q9UH61
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

  3. XM_047431453.1XP_047287409.1  ninein isoform X23

  4. XM_047431438.1XP_047287394.1  ninein isoform X10

    Related
    ENSP00000374519.3, ENST00000389869.7
  5. XM_047431450.1XP_047287406.1  ninein isoform X23

  6. XM_047431442.1XP_047287398.1  ninein isoform X15

  7. XM_047431432.1XP_047287388.1  ninein isoform X3

  8. XM_047431445.1XP_047287401.1  ninein isoform X18

  9. XM_047431440.1XP_047287396.1  ninein isoform X13

  10. XM_047431434.1XP_047287390.1  ninein isoform X6

  11. XM_047431441.1XP_047287397.1  ninein isoform X14

  12. XM_047431431.1XP_047287387.1  ninein isoform X2

  13. XM_047431443.1XP_047287399.1  ninein isoform X16

  14. XM_011536822.3XP_011535124.1  ninein isoform X12

    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

  16. XM_024449622.2XP_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
  17. XM_047431449.1XP_047287405.1  ninein isoform X22

  18. XM_047431451.1XP_047287407.1  ninein isoform X24

  19. XM_047431446.1XP_047287402.1  ninein isoform X19

  20. XM_047431447.1XP_047287403.1  ninein isoform X20

  21. XM_047431435.1XP_047287391.1  ninein isoform X7

  22. XM_047431444.1XP_047287400.1  ninein isoform X17

  23. XM_011536819.4XP_011535121.1  ninein isoform X5

    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
    Related
    ENSP00000432924.1, ENST00000476352.5
  25. XM_047431448.1XP_047287404.1  ninein isoform X21

  26. XM_047431436.1XP_047287392.1  ninein isoform X8

  27. XM_047431454.1XP_047287410.1  ninein isoform X26

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    44925893..45037297 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.