Human Gene NINL (ENST00000278886.11_12) from GENCODE V47lift37
  Description: ninein like, transcript variant 1 (from RefSeq NM_025176.6)
Gencode Transcript: ENST00000278886.11_12
Gencode Gene: ENSG00000101004.16_15
Transcript (Including UTRs)
   Position: hg19 chr20:25,433,333-25,566,167 Size: 132,835 Total Exon Count: 24 Strand: -
Coding Region
   Position: hg19 chr20:25,434,087-25,507,223 Size: 73,137 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:25,433,333-25,566,167)mRNA (may differ from genome)Protein (1382 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NINL_HUMAN
DESCRIPTION: RecName: Full=Ninein-like protein;
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.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome. Cytoplasm. Note=In interphase cells, NINL is transported to the centrosomes by the dynein-dynactin motor complex. During centrosome maturation, PLK1 directly phosphorylates NINL resulting in its release into the cytoplasm.
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.
DOMAIN: The KEN and D (destructive) boxes are required for the cell cycle-controlled NINL degradation by the APC/C pathway.
PTM: Phosphorylated by PLK1 which disrupts its centrosome association and interaction with gamma-tubulin.
PTM: Ubiquitinated by the APC/C complex leading to its degradation.
SIMILARITY: Contains 4 EF-hand domains.
SEQUENCE CAUTION: Sequence=BAA76824.1; Type=Erroneous initiation; Sequence=BAH11644.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAH11644.1; Type=Erroneous termination; Positions=405; Note=Translated as Gln;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NINL
Diseases sorted by gene-association score: leber congenital amaurosis (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.21 RPKM in Ovary
Total median expression: 235.30 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -45.5088-0.517 Picture PostScript Text
3' UTR -233.20754-0.309 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2
IPR002048 - EF_hand_Ca-bd

Pfam Domains:
PF13202 - EF hand
PF13499 - EF-hand domain pair
PF13833 - EF-hand domain pair

SCOP Domains:
103657 - BAR/IMD domain-like
47473 - EF-hand

ModBase Predicted Comparative 3D Structure on Q9Y2I6
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
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 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0000086 G2/M transition of mitotic cell cycle
GO:0010389 regulation of G2/M transition of mitotic cell cycle
GO:0097711 ciliary basal body docking

Cellular Component:
GO:0005737 cytoplasm
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0045171 intercellular bridge


-  Descriptions from all associated GenBank mRNAs
  AB023197 - Homo sapiens KIAA0980 mRNA for KIAA0980 protein.
EU718622 - Homo sapiens ninein-like protein isoform B mRNA, complete cds.
AK309298 - Homo sapiens cDNA, FLJ99339.
BC036380 - Homo sapiens ninein-like, mRNA (cDNA clone MGC:33226 IMAGE:5268454), complete cds.
AK021854 - Homo sapiens cDNA FLJ11792 fis, clone HEMBA1006121.
JD296574 - Sequence 277598 from Patent EP1572962.
JD041199 - Sequence 22223 from Patent EP1572962.
JD216061 - Sequence 197085 from Patent EP1572962.
JD471051 - Sequence 452075 from Patent EP1572962.
JD450136 - Sequence 431160 from Patent EP1572962.
JD207881 - Sequence 188905 from Patent EP1572962.
JD544790 - Sequence 525814 from Patent EP1572962.
AB384073 - Synthetic construct DNA, clone: pF1KSDA0980, Homo sapiens NLP gene for ninein-like protein, complete cds, without stop codon, in Flexi system.
BC113095 - Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1, mRNA (cDNA clone IMAGE:40076101), **** WARNING: chimeric clone ****.
KJ904409 - Synthetic construct Homo sapiens clone ccsbBroadEn_13803 hypothetical protein, encodes complete protein.
AK093569 - Homo sapiens cDNA FLJ36250 fis, clone THYMU2002037.
AX748206 - Sequence 1731 from Patent EP1308459.
AK293991 - Homo sapiens cDNA FLJ56426 complete cds, weakly similar to Ninein.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y2I6 (Reactome details) participates in the following event(s):

R-HSA-380303 Dissociation of Phospho-Nlp from the centrosome
R-HSA-380272 Plk1-mediated phosphorylation of Nlp
R-HSA-380283 Recruitment of additional gamma tubulin/ gamma TuRC to the centrosome
R-HSA-380294 Loss of C-Nap-1 from centrosomes
R-HSA-380311 Recruitment of Plk1 to centrosomes
R-HSA-380455 Recruitment of CDK11p58 to the centrosomes
R-HSA-5626220 C2CD3 binds the mother centriole
R-HSA-380508 Translocation of NuMA to the centrosomes
R-HSA-2574845 AJUBA binds centrosome-associated AURKA
R-HSA-8853405 TPX2 binds AURKA at centrosomes
R-HSA-3000319 BORA binds PLK1 and AURKA
R-HSA-2574840 AJUBA facilitates AURKA autophosphorylation
R-HSA-3000310 AURKA phosphorylates PLK1
R-HSA-5626223 C2CD3 and OFD1 recruit 5 distal appendage proteins to the centriole
R-HSA-5626681 Recruitment of transition zone proteins
R-HSA-5626227 CP110 and CEP97 dissociate from the centriole
R-HSA-380316 Association of NuMA with microtubules
R-HSA-8853419 TPX2 promotes AURKA autophosphorylation
R-HSA-5626228 The distal appendage proteins recruit TTBK2
R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body
R-HSA-5626699 MARK4 binds ODF2 in the centriole
R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A
R-HSA-380259 Loss of Nlp from mitotic centrosomes
R-HSA-380270 Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284 Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-5620912 Anchoring of the basal body to the plasma membrane
R-HSA-380320 Recruitment of NuMA to mitotic centrosomes
R-HSA-2565942 Regulation of PLK1 Activity at G2/M Transition
R-HSA-8854518 AURKA Activation by TPX2
R-HSA-380287 Centrosome maturation
R-HSA-5617833 Cilium Assembly
R-HSA-68877 Mitotic Prometaphase
R-HSA-69275 G2/M Transition
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-68886 M Phase
R-HSA-453274 Mitotic G2-G2/M phases
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: A6NJN0, B3V9H6, B7Z1V8, ENST00000278886.1, ENST00000278886.10, ENST00000278886.2, ENST00000278886.3, ENST00000278886.4, ENST00000278886.5, ENST00000278886.6, ENST00000278886.7, ENST00000278886.8, ENST00000278886.9, KIAA0980, NINL_HUMAN, NLP, NM_025176, Q5JYP0, Q8NE38, Q9NQE3, Q9Y2I6, uc317jqf.1, uc317jqf.2
UCSC ID: ENST00000278886.11_12
RefSeq Accession: NM_025176.6
Protein: Q9Y2I6 (aka NINL_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.