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Aliases for NINL Gene

Aliases for NINL Gene

  • Ninein Like 2 3 5
  • Ninein-Like Protein 2 3
  • NLP 3 4
  • KIAA0980 4

External Ids for NINL Gene

Previous GeneCards Identifiers for NINL Gene

  • GC20M025383

Summaries for NINL Gene

GeneCards Summary for NINL Gene

NINL (Ninein Like) is a Protein Coding gene. Diseases associated with NINL include Leber Congenital Amaurosis. Among its related pathways are Cell Cycle, Mitotic and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is NIN.

UniProtKB/Swiss-Prot for NINL Gene

  • Involved in the microtubule organization in interphase cells. Overexpression induces the fragmentation of the Golgi, and causes lysosomes to disperse toward the cell periphery; it also interferes with mitotic spindle assembly. May play a role in ovarian carcinogenesis.

Gene Wiki entry for NINL Gene

Additional gene information for NINL Gene

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

Genomics for NINL Gene

GeneHancer (GH) Regulatory Elements for NINL Gene

Promoters and enhancers for NINL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J025584 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 663.1 +0.4 367 2 FOXA2 ARID4B SIN3A DMAP1 ZNF48 YY1 SLC30A9 ZNF121 GLIS2 ELK1 NINL PIR54986 PYGB ZNF337 FAM182A FAM182B
GH20J025232 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.2 +349.0 349011 7.8 PKNOX1 FOXA2 ARNT ARID4B NEUROD1 SIN3A FEZF1 ZNF2 YY1 ZNF766 PYGB LOC105372579 ABHD12 ZNF337 ZNF337-AS1 NANP NINL ENTPD6 FAM182B FAM182A
GH20J025622 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12 -38.1 -38149 2.9 PKNOX1 CLOCK ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 NANP ZNF337-AS1 ZNF337 NINL FAM182B RNU6ATAC17P
GH20J025538 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.8 +45.4 45438 2.7 ATF1 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 ETS1 YY1 SLC30A9 ABHD12 ZNF337 FAM182B NINL RNU6ATAC17P ZNF337-AS1 GC20P025533 PIR48473
GH20J025293 Enhancer 1.4 Ensembl ENCODE dbSUPER 9.9 +289.7 289725 4.7 PKNOX1 ARID4B SIN3A YBX1 DMAP1 IRF4 ZNF48 GLIS2 ARID2 ZNF143 PIR34275 PIR57709 GC20P025297 ABHD12 PYGB ZNF337 NINL ZNF337-AS1 PIR48093
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NINL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NINL gene promoter:
  • FOXF2
  • Sp1
  • HFH-1
  • Egr-4
  • Nkx2-5
  • ER-alpha
  • NF-E2 p45
  • NF-E2
  • ITF-2
  • Tal-1beta

Genomic Locations for NINL Gene

Genomic Locations for NINL Gene
chr20:25,452,697-25,585,531
(GRCh38/hg38)
Size:
132,835 bases
Orientation:
Minus strand
chr20:25,433,337-25,566,153
(GRCh37/hg19)
Size:
132,817 bases
Orientation:
Minus strand

Genomic View for NINL Gene

Genes around NINL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for NINL Gene

Proteins for NINL Gene

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

    Protein Symbol:
    Q9Y2I6-NINL_HUMAN
    Recommended name:
    Ninein-like protein
    Protein Accession:
    Q9Y2I6
    Secondary Accessions:
    • A6NJN0
    • B3V9H6
    • B7Z1V8
    • Q5JYP0
    • Q8NE38
    • Q9NQE3

    Protein attributes for NINL Gene

    Size:
    1382 amino acids
    Molecular mass:
    156344 Da
    Quaternary structure:
    • Interacts with gamma-tubulin and TUBGCP4. Interacts with anaphase promoting complex/cyclosome (APC/C). Interacts with CDC20 and FZR1. Isoform 2 interacts with LCA5 and USH2A.
    SequenceCaution:
    • Sequence=BAA76824.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAH11644.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAH11644.1; Type=Erroneous termination; Positions=405; Note=Translated as Gln.; Evidence={ECO:0000305};

    Alternative splice isoforms for NINL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NINL Gene

Post-translational modifications for NINL Gene

  • Phosphorylated by PLK1 which disrupts its centrosome association and interaction with gamma-tubulin.
  • Ubiquitinated by the APC/C complex leading to its degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NINL Gene

Domains & Families for NINL Gene

Gene Families for NINL Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NINL Gene

Suggested Antigen Peptide Sequences for NINL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y2I6

UniProtKB/Swiss-Prot:

NINL_HUMAN :
  • The KEN and D (destructive) boxes are required for the cell cycle-controlled NINL degradation by the APC/C pathway.
Domain:
  • The KEN and D (destructive) boxes are required for the cell cycle-controlled NINL degradation by the APC/C pathway.
genes like me logo Genes that share domains with NINL: view

Function for NINL Gene

Molecular function for NINL Gene

UniProtKB/Swiss-Prot Function:
Involved in the microtubule organization in interphase cells. Overexpression induces the fragmentation of the Golgi, and causes lysosomes to disperse toward the cell periphery; it also interferes with mitotic spindle assembly. May play a role in ovarian carcinogenesis.

Phenotypes From GWAS Catalog for NINL Gene

Gene Ontology (GO) - Molecular Function for NINL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 16189514
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with NINL: view
genes like me logo Genes that share phenotypes with NINL: view

Animal Models for NINL Gene

MGI Knock Outs for NINL:
  • Ninl Ninl<tm2a(EUCOMM)Wtsi>

Animal Model Products

miRNA for NINL Gene

miRTarBase miRNAs that target NINL

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NINL Gene

Localization for NINL Gene

Subcellular locations from UniProtKB/Swiss-Prot for NINL Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm. Note=In interphase cells, NINL is transported to the centrosomes by the dynein-dynactin motor complex (PubMed:16254247). During centrosome maturation, PLK1 directly phosphorylates NINL resulting in its release into the cytoplasm (PubMed:16254247).

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 NINL gene
Compartment Confidence
cytosol 5
extracellular 4
cytoskeleton 4
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (2)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NINL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with NINL: view

Pathways & Interactions for NINL Gene

genes like me logo Genes that share pathways with NINL: view

Pathways by source for NINL Gene

SIGNOR curated interactions for NINL Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NINL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000226 microtubule cytoskeleton organization IBA --
GO:0010389 regulation of G2/M transition of mitotic cell cycle TAS --
GO:0097711 ciliary basal body-plasma membrane docking TAS --
genes like me logo Genes that share ontologies with NINL: view

Drugs & Compounds for NINL Gene

No Compound Related Data Available

Transcripts for NINL Gene

Unigene Clusters for NINL Gene

Ninein-like:
Representative Sequences:

Clone Products

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
SP1: - -
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7: - -
SP8: -
SP9:
SP10: -
SP11:
SP12:
SP13: -

ExUns: 22 ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27a · 27b
SP1:
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for NINL Gene

GeneLoc Exon Structure for
NINL
ECgene alternative splicing isoforms for
NINL

Expression for NINL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NINL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NINL Gene

This gene is overexpressed in Monocytes (33.8), CD4 Tcells (12.2), Blymphocyte (9.1), and Fetal ovary (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NINL Gene



Protein tissue co-expression partners for NINL Gene

NURSA nuclear receptor signaling pathways regulating expression of NINL Gene:

NINL

SOURCE GeneReport for Unigene cluster for NINL Gene:

Hs.631508

mRNA Expression by UniProt/SwissProt for NINL Gene:

Q9Y2I6-NINL_HUMAN
Tissue specificity: Expressed in KYSE-150 esophageal carcinoma, HeLa cervical carcinoma and U2OS osteosarcoma cells. Expression is regulated in a cell cycle-dependent manner and peaks during G2/M phase (at protein level). Expressed in fetal heart, skeletal muscle, liver, lung and cochlea, and in adult brain, testis, kidney and retina.

Evidence on tissue expression from TISSUES for NINL Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with NINL: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NINL Gene

Orthologs for NINL Gene

This gene was present in the common ancestor of animals.

Orthologs for NINL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NINL 34 33
  • 99.13 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NINL 34 33
  • 78.96 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LOC100297905 33
  • 78.77 (n)
-- 34
  • 53 (a)
OneToMany
-- 34
  • 49 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 73 (a)
OneToMany
-- 34
  • 47 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ninl 33
  • 72.69 (n)
mouse
(Mus musculus)
Mammalia Ninl 16 34 33
  • 72.47 (n)
chicken
(Gallus gallus)
Aves NINL 34
  • 29 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NINL 34
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ninl 33
  • 62.96 (n)
zebrafish
(Danio rerio)
Actinopterygii ninl 34
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Bsg25D 34
  • 16 (a)
OneToMany
Species where no ortholog for NINL 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 NINL Gene

ENSEMBL:
Gene Tree for NINL (if available)
TreeFam:
Gene Tree for NINL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NINL: view image

Paralogs for NINL Gene

Paralogs for NINL Gene

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

Variants for NINL Gene

Sequence variations from dbSNP and Humsavar for NINL Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000017859 -- 25,560,767(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000040545 -- 25,504,520(-) A/T genic_upstream_transcript_variant, intron_variant
rs1000051052 -- 25,527,792(-) GGGGGG/GGGGGGG genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000118747 -- 25,528,769(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000124468 -- 25,580,114(-) C/G genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv4290n100 CNV gain 25217958
dgv655e201 CNV deletion 23290073
esv2668672 CNV deletion 23128226
esv2722329 CNV deletion 23290073
esv2722330 CNV deletion 23290073
esv2762069 CNV loss 21179565
esv29455 CNV loss 19812545
esv3440527 CNV insertion 20981092
esv3645588 CNV loss 21293372
esv3893324 CNV gain 25118596
nsv1059494 CNV gain 25217958
nsv1067379 CNV gain 25217958
nsv178907 CNV deletion 16902084
nsv3341 CNV insertion 18451855
nsv499328 CNV gain 21111241
nsv522873 CNV gain 19592680
nsv585746 CNV gain 21841781

Variation tolerance for NINL Gene

Residual Variation Intolerance Score: 97.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.00; 80.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NINL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NINL

SNP Genotyping and Copy Number Assay Products

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

Disorders for NINL Gene

MalaCards: The human disease database

(1) MalaCards diseases for NINL Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
leber congenital amaurosis
  • lca
- elite association - COSMIC cancer census association via MalaCards
Search NINL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NINL

genes like me logo Genes that share disorders with NINL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NINL Gene

Publications for NINL Gene

  1. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10231032) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 58
  2. Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein. (PMID: 18826961) van Wijk E … Kremer H (Human molecular genetics 2009) 3 4 58
  3. Increased expression of Nlp, a potential oncogene in ovarian cancer, and its implication in carcinogenesis. (PMID: 18538832) Qu D … Zhan Q (Gynecologic oncology 2008) 3 4 58
  4. Cell cycle-dependent expression of centrosomal ninein-like protein in human cells is regulated by the anaphase-promoting complex. (PMID: 17403670) Wang Y … Zhan Q (The Journal of biological chemistry 2007) 3 4 58
  5. Phosphorylation of Nlp by Plk1 negatively regulates its dynein-dynactin-dependent targeting to the centrosome. (PMID: 16254247) Casenghi M … Nigg EA (Journal of cell science 2005) 3 4 58

Products for NINL Gene

Sources for NINL Gene

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