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Aliases for NIN Gene

Aliases for NIN Gene

  • Ninein 2 3 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 Seckel Syndrome. 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 (PubMed:15190203). Required for centriole organization and microtubule anchoring at the mother centriole (PubMed:23386061).

Gene Wiki entry for NIN Gene

Additional gene information for NIN Gene

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

Genomics for NIN Gene

Regulatory Elements for NIN Gene

Enhancers for NIN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H050784 1.3 Ensembl ENCODE dbSUPER 21.3 +42.1 42054 8 HDGF PKNOX1 TBL1XR1 EBF1 RELA POLR2A EED ATF7 RUNX3 IKZF2 NIN ENSG00000252945 ABHD12B SAV1 LOC105370489 GC14M050675
GH14H050761 1.3 Ensembl ENCODE dbSUPER 14.6 +68.1 68142 2 INSM2 FEZF1 BATF ATF7 RUNX3 CREM IKZF2 JUNB ZNF488 ZEB2 NIN SAV1 GC14M050675 LOC105370489
GH14H050859 1.3 Ensembl ENCODE dbSUPER 12.1 -29.1 -29062 2 CTCF TFAP4 IRF2 RB1 MAX SIN3A ZNF384 RAD21 YY1 GATA3 NIN PYGL MAP4K5 ATL1 ABHD12B LOC105370491 ENSG00000258687
GH14H050675 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.5 +154.2 154203 3 JUN BATF RELA GATA3 POLR2A EED RCOR1 FOS ATF7 RUNX3 MAP4K5 ATL1 NIN CDKL1 SAV1 GC14P050697
GH14H050773 1.2 Ensembl ENCODE dbSUPER 11.3 +55.8 55805 2 CTCF MXI1 JUN RAD21 GATA3 POLR2A ZBTB48 SMC3 ZNF143 DEK NIN MAP4K5 ATL1 ABHD12B SAV1 LOC105370489 GC14M050675
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NIN on UCSC Golden Path with GeneCards custom track

Promoters for NIN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000068182 365 2001 SIN3A ZNF2 ZBTB7B GLIS2 RUNX3 SP3 NBN SP7 CTCF ZNF777

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

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

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for NIN Gene

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.
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 (PubMed:15190203). Required for centriole organization and microtubule anchoring at the mother centriole (PubMed:23386061).

Phenotypes From GWAS Catalog for NIN Gene

Gene Ontology (GO) - Molecular Function for NIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 11004522
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with NIN: view
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

Animal Models for NIN Gene

MGI Knock Outs for NIN:
  • Nin tm1b(EUCOMM)Hmgu

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , 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. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. 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. Localizes to the subdistal appendage region of the centriole in a DCTN1-dependent manner. {ECO:0000269 PubMed:23386061}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NIN gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (4)
  • Nucleoli (3)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000242 pericentriolar material IDA 8834802
GO:0000922 spindle pole IMP 18331714
GO:0005634 nucleus IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NIN: view

Pathways & Interactions for NIN Gene

No Data Available

SIGNOR curated interactions for NIN Gene

Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for NIN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034454 microtubule anchoring at centrosome IMP 23386061
GO:0051642 centrosome localization TAS 16154161
GO:0090222 centrosome-templated microtubule nucleation IBA --
genes like me logo Genes that share ontologies with NIN: view

No data available for Pathways by source for NIN Gene

Drugs & Compounds for NIN Gene

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

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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for NIN Gene



Protein tissue co-expression partners for NIN Gene

NURSA nuclear receptor signaling pathways regulating expression of NIN Gene:

NIN

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.

Evidence on tissue expression from TISSUES for NIN Gene

  • Nervous system(4.7)
  • Bone marrow(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NIN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • thyroid
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • ovary
  • pelvis
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with NIN: view

Primer 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 33 34
  • 99.47 (n)
cow
(Bos Taurus)
Mammalia NIN 33 34
  • 87.98 (n)
dog
(Canis familiaris)
Mammalia NIN 33 34
  • 87.86 (n)
rat
(Rattus norvegicus)
Mammalia Nin 33
  • 82.04 (n)
mouse
(Mus musculus)
Mammalia Nin 33 16 34
  • 81.67 (n)
oppossum
(Monodelphis domestica)
Mammalia NIN 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves NIN 33 34
  • 66.34 (n)
lizard
(Anolis carolinensis)
Reptilia NIN 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nin 33
  • 62.1 (n)
Str.20462 33
zebrafish
(Danio rerio)
Actinopterygii nin 34
  • 22 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Bsg25D 34
  • 17 (a)
OneToMany
Species where no ortholog for NIN was found in the sources mined by GeneCards:
  • 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
rs187464517 Pathogenic, Seckel syndrome 7 (SCKL7) [MIM:614851] 50,757,365(+) GGTCC(C/T)GTTTC intron-variant, nc-transcript-variant, reference, missense
rs387907308 Pathogenic, Seckel syndrome 7 (SCKL7) [MIM:614851] 50,744,304(-) CTACA(A/G)CGAAA nc-transcript-variant, reference, missense
rs747680111 Pathogenic 50,758,548(+) ACACC(-/T)CTCAG intron-variant, nc-transcript-variant, reference, frameshift-variant
rs11376 Likely benign 50,738,278(-) CGTCA(A/G)TTGGA nc-transcript-variant, reference, synonymous-codon
rs12717411 Likely benign 50,739,427(+) CCAGG(A/G/T)CAGCC nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv3634490 CNV loss 21293372
nsv1040775 CNV gain 25217958
nsv1143749 CNV deletion 24896259
nsv472262 CNV novel sequence insertion 20440878
nsv564840 CNV gain 21841781
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

Human Gene Mutation Database (HGMD)
NIN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NIN

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

Disorders for NIN Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
seckel syndrome 7
  • seckel syndrome type 7
seckel syndrome
  • bird-headed dwarfism
mature cataract
  • total or mature cataract
leukoencephalopathy with vanishing white matter
  • ovarioleukodystrophy
- 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 YR … Howng SL (Biochemical and biophysical research communications 2000) 2 3 4 22 60
  2. Cloning and characterization of a novel human ninein protein that interacts with the glycogen synthase kinase 3beta. (PMID: 11004522) Hong YR … Howng SL (Biochimica et biophysica acta 2000) 2 3 4 22 60
  3. Human ninein is a centrosomal autoantigen recognized by CREST patient sera and plays a regulatory role in microtubule nucleation. (PMID: 15190203) Stillwell EE … Joshi HC (Cell cycle (Georgetown, Tex.) 2004) 3 4 22 60
  4. A novel ninein-interaction protein, CGI-99, blocks ninein phosphorylation by GSK3beta and is highly expressed in brain tumors. (PMID: 15147888) Howng SL … Hong YR (FEBS letters 2004) 3 4 22 60
  5. Spectrum of centrosome autoantibodies in childhood varicella and post-varicella acute cerebellar ataxia. (PMID: 14503922) Fritzler MJ … Rattner JB (BMC pediatrics 2003) 3 4 22 60

Products for NIN Gene

Sources for NIN Gene

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