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Aliases for NIN Gene

Aliases for NIN Gene

  • Ninein 2 3 5
  • Glycogen Synthase Kinase 3 Beta-Interacting Protein 3 4
  • Ninein (GSK3B Interacting Protein) 2 3
  • HNinein 3 4
  • Ninein Centrosomal Protein 3
  • GSK3B-Interacting Protein 4
  • KIAA1565 4
  • SCKL7 3

External Ids for NIN Gene

Previous GeneCards Identifiers for NIN Gene

  • GC14M048508
  • GC14M044982
  • GC14M049176
  • GC14M050256
  • GC14M051187
  • GC14M031312

Summaries for NIN Gene

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) is a Protein Coding gene. Diseases associated with NIN include seckel syndrome 7 and microcephalic primordial dwarfism, dauber type. GO annotations related to this gene include calcium ion binding and GTP binding. An important paralog of this gene is NINL.

UniProtKB/Swiss-Prot for NIN Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NIN Gene

Genomics for NIN Gene

Regulatory Elements for NIN Gene

Promoters for NIN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NIN on UCSC Golden Path with GeneCards custom track

Genomic Location for NIN Gene

Chromosome:
14
Start:
50,719,763 bp from pter
End:
50,831,165 bp from pter
Size:
111,403 bases
Orientation:
Minus strand

Genomic View for NIN Gene

Genes around NIN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NIN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NIN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NIN Gene

Proteins for NIN Gene

  • Protein details for NIN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N4C6-NIN_HUMAN
    Recommended name:
    Ninein
    Protein Accession:
    Q8N4C6
    Secondary Accessions:
    • A6NDB8
    • B7WPA3
    • C9JSB6
    • C9JSG2
    • C9JXL2
    • Q5BKU3
    • Q6P0P6
    • Q9BWU6
    • Q9C012
    • Q9C013
    • Q9C014
    • Q9H5I6
    • Q9HAT7
    • Q9HBY5
    • Q9HCK7
    • Q9UH61

    Protein attributes for NIN Gene

    Size:
    2090 amino acids
    Molecular mass:
    243249 Da
    Quaternary structure:
    • Homooligomer. Interacts with GSK3B/GSK3-beta via its C-terminal 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.
    Miscellaneous:
    • Antibodies against NIN are present in sera from patients with autoimmune diseases that developed autoantibodies against centrosomal proteins.
    SequenceCaution:
    • Sequence=AAH65521.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH65521.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAK00628.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors.; Evidence={ECO:0000305}; Sequence=AAK00629.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors and frameshifts.; Evidence={ECO:0000305}; Sequence=AAK00630.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors.; Evidence={ECO:0000305}; Sequence=BAB13391.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB15640.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for NIN Gene

neXtProt entry for NIN Gene

Proteomics data for NIN Gene at MOPED

Post-translational modifications for NIN Gene

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

No data available for DME Specific Peptides for NIN Gene

Domains & Families for NIN Gene

Gene Families for NIN Gene

Protein Domains for NIN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NIN Gene

Graphical View of Domain Structure for InterPro Entry

Q8N4C6

UniProtKB/Swiss-Prot:

NIN_HUMAN :
  • The coiled coil region from Asn-1611 to Pro-1693 is necessary and sufficient for the targeting to centrosome.
Domain:
  • The coiled coil region from Asn-1611 to Pro-1693 is necessary and sufficient for the targeting to centrosome.
  • Contains 5 EF-hand domains.
genes like me logo Genes that share domains with NIN: view

Function for NIN Gene

Molecular function for NIN Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with NIN: view

Human Phenotype Ontology for NIN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for NIN Gene

Localization for NIN Gene

Subcellular locations from UniProtKB/Swiss-Prot for NIN Gene

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
Jensen Localization Image for NIN Gene COMPARTMENTS Subcellular localization image for NIN gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for NIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IMP 18331714
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with NIN: view

Pathways & Interactions for NIN Gene

SuperPathways for NIN Gene

No Data Available

SIGNOR curated interactions for NIN Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for NIN Gene

None

No data available for Pathways by source for NIN Gene

Drugs & Compounds for NIN Gene

(2) Drugs for NIN Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with NIN: view

Transcripts for NIN Gene

Unigene Clusters for NIN Gene

Ninein (GSK3B interacting protein):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NIN Gene

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: - - - - - - -
SP6:
SP7:
SP8:
SP9: - -
SP10: - -
SP11: - -
SP12:
SP13:
SP14:

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:
SP6: - - - -
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

ExUns: 34c · 34d · 34e ^ 35a · 35b · 35c
SP1:
SP2: - - -
SP3:
SP4:
SP5:
SP6: - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - - -

Relevant External Links for NIN Gene

GeneLoc Exon Structure for
NIN
ECgene alternative splicing isoforms for
NIN

Expression for NIN Gene

mRNA expression in normal human tissues for NIN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NIN Gene

This gene is overexpressed in Whole Blood (x5.3).

Protein differential expression in normal tissues from HIPED for NIN Gene

This gene is overexpressed in Uterus (26.0) and Peripheral blood mononuclear cells (12.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NIN Gene



SOURCE GeneReport for Unigene cluster for NIN Gene Hs.310429

mRNA Expression by UniProt/SwissProt for NIN Gene

Q8N4C6-NIN_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in heart and skeletal muscle. Isoform 1 is more expressed than isoform 5.
genes like me logo Genes that share expression patterns with NIN: view

Protein tissue co-expression partners for NIN Gene

Primer Products

In Situ Assay Products

Orthologs for NIN Gene

This gene was present in the common ancestor of animals.

Orthologs for NIN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NIN 35
  • 99.47 (n)
  • 99.34 (a)
NIN 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NIN 36
  • 83 (a)
OneToOne
NIN 35
  • 87.98 (n)
  • 87.05 (a)
dog
(Canis familiaris)
Mammalia NIN 35
  • 87.86 (n)
  • 86.07 (a)
NIN 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nin 16
Nin 36
  • 76 (a)
OneToOne
Nin 35
  • 81.67 (n)
  • 79.24 (a)
oppossum
(Monodelphis domestica)
Mammalia NIN 36
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nin 35
  • 82.04 (n)
  • 78.74 (a)
chicken
(Gallus gallus)
Aves NIN 35
  • 66.34 (n)
  • 61.26 (a)
NIN 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NIN 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nin 35
  • 62.1 (n)
  • 58.52 (a)
Str.20462 35
zebrafish
(Danio rerio)
Actinopterygii nin 36
  • 22 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Bsg25D 36
  • 17 (a)
OneToMany
Species with no ortholog for NIN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NIN Gene

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

Paralogs for NIN Gene

Paralogs for NIN Gene

genes like me logo Genes that share paralogs with NIN: view

Variants for NIN Gene

Sequence variations from dbSNP and Humsavar for NIN Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs2236316 - 50,757,699(+) AGCTG(C/G)CTCAT intron-variant, reference, missense
rs2073347 - 50,757,071(+) TCAGC(C/T)CCTCA intron-variant, reference, missense
rs12717411 - 50,739,427(+) CCAGG(A/G/T)CAGCC reference, missense
rs12882191 - 50,757,656(+) AAAAC(G/T)GCTCT intron-variant, reference, missense
rs2295847 - 50,735,593(+) TTCTT(C/G)TTCAA reference, missense

Structural Variations from Database of Genomic Variants (DGV) for NIN Gene

Variant ID Type Subtype PubMed ID
nsv832794 CNV Gain 17160897

Variation tolerance for NIN Gene

Residual Variation Intolerance Score: 64.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.82; 89.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NIN Gene

HapMap Linkage Disequilibrium report
NIN
Human Gene Mutation Database (HGMD)
NIN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NIN Gene

Disorders for NIN Gene

MalaCards: The human disease database

(8) MalaCards diseases for NIN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
seckel syndrome 7
  • sckl7
microcephalic primordial dwarfism, dauber type
microcephaly 12, primary, autosomal recessive
  • primary autosomal recessive microcephaly type 12
autosomal dominant microcephaly
  • microcephaly autosomal dominant
seckel syndrome
  • bird-headed dwarfism
- elite association - COSMIC cancer census association via MalaCards
Search NIN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NIN_HUMAN
  • 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. {ECO:0000269 PubMed:22933543}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NIN

Genetic Association Database (GAD)
NIN
Human Genome Epidemiology (HuGE) Navigator
NIN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NIN
genes like me logo Genes that share disorders with NIN: view

No data available for Genatlas for NIN Gene

Publications for NIN Gene

  1. Genomic organization and molecular characterization of the human ninein gene. (PMID: 11162463) Hong Y.-R. … Howng S.-L. (Biochem. Biophys. Res. Commun. 2000) 2 3 4 23 67
  2. Cloning and characterization of a novel human ninein protein that interacts with the glycogen synthase kinase 3beta. (PMID: 11004522) Hong Y.-R. … Howng S.-L. (Biochim. Biophys. Acta 2000) 2 3 23
  3. hNinein is required for targeting spindle-associated protein Astrin to the centrosome during the S and G2 phases. (PMID: 17383637) Cheng T.S. … Hong Y.R. (Exp. Cell Res. 2007) 3 23
  4. Ninein is released from the centrosome and moves bi-directionally along microtubules. (PMID: 17698918) Moss D.K. … Mogensen M.M. (J. Cell. Sci. 2007) 3 23
  5. Characterization and functional aspects of human ninein isoforms that regulated by centrosomal targeting signals and evidence for docking sites to direct gamma-tubulin. (PMID: 17102634) Lin C.C. … Hong Y.R. (Cell Cycle 2006) 3 23

Products for NIN Gene

Sources for NIN Gene

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