Human Gene NIN (ENST00000530997.7_13) from GENCODE V47lift37
  Description: ninein, transcript variant 2 (from RefSeq NM_020921.4)
Gencode Transcript: ENST00000530997.7_13
Gencode Gene: ENSG00000100503.27_19
Transcript (Including UTRs)
   Position: hg19 chr14:51,186,481-51,297,880 Size: 111,400 Total Exon Count: 31 Strand: -
Coding Region
   Position: hg19 chr14:51,190,181-51,288,774 Size: 98,594 Coding Exon Count: 29 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:51,186,481-51,297,880)mRNA (may differ from genome)Protein (2133 aa)
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-  Comments and Description Text from UniProtKB
  ID: NIN_HUMAN
DESCRIPTION: RecName: Full=Ninein; Short=hNinein; AltName: Full=Glycogen synthase kinase 3 beta-interacting protein; Short=GSK3B-interacting protein;
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.
SUBUNIT: Homooligomer. Interacts with GSK3B/GSK3-beta via its C- terminus 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.
INTERACTION: Q9Y224:C14orf166; NbExp=4; IntAct=EBI-1164022, EBI-1104547; P49841:GSK3B; NbExp=2; IntAct=EBI-1164022, EBI-373586;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, 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.
TISSUE SPECIFICITY: Ubiquitous. Highly expressed in heart and skeletal muscle. Isoform 1 is more expressed than isoform 5.
DEVELOPMENTAL STAGE: In interphase cells, it is localized in the centrosome. Decreases in metaphase and anaphase and reappears in telophase.
DOMAIN: The coiled coil region from Asn-1611 to Pro-1693 is necessary and sufficient for the targeting to centrosome.
PTM: Phosphorylated by AURKA/Aurora kinase A and PKA kinases but not CK2 or AURKB/ Aurora kinase B. Phosphorylated upon DNA damage, probably by ATM or ATR.
MISCELLANEOUS: Antibodies against NIN are present in sera from patients with autoimmune diseases that developed autoantibodies against centrosomal proteins.
SIMILARITY: Contains 5 EF-hand domains.
SEQUENCE CAUTION: Sequence=AAH65521.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAH65521.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAK00628.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors; Sequence=AAK00629.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors and frameshifts; Sequence=AAK00630.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors; Sequence=BAB13391.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAB15640.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/NINID176.html";

-  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: NIN
Diseases sorted by gene-association score: seckel syndrome 7* (1729), seckel syndrome (11), mature cataract (6), leukoencephalopathy with vanishing white matter (5)
* = Manually curated disease association

-  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: 23.30 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 239.61 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 -127.90232-0.551 Picture PostScript Text
3' UTR -854.303700-0.231 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
IPR018249 - EF_HAND_2

SCOP Domains:
47473 - EF-hand
54897 - Protease propeptides/inhibitors

ModBase Predicted Comparative 3D Structure on Q8N4C6
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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 orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005525 GTP binding

Biological Process:
GO:0008104 protein localization
GO:0010457 centriole-centriole cohesion
GO:0034454 microtubule anchoring at centrosome
GO:0051642 centrosome localization
GO:0090222 centrosome-templated microtubule nucleation

Cellular Component:
GO:0000242 pericentriolar material
GO:0000922 spindle pole
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005814 centriole
GO:0005815 microtubule organizing center
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0036449 microtubule minus-end
GO:0072686 mitotic spindle
GO:0097431 mitotic spindle pole
GO:0097539 ciliary transition fiber


-  Descriptions from all associated GenBank mRNAs
  AB046785 - Homo sapiens mRNA for KIAA1565 protein, partial cds.
AF223938 - Homo sapiens ninein isotype 2 mRNA, complete cds.
BC090932 - Homo sapiens ninein (GSK3B interacting protein), mRNA (cDNA clone MGC:104964 IMAGE:3090109), complete cds.
AF223939 - Homo sapiens ninein isotype 3 mRNA, complete cds.
AF212162 - Homo sapiens ninein mRNA, complete cds.
AF302773 - Homo sapiens ninein-Lm isoform (ninein) mRNA, complete cds.
AY736182 - Homo sapiens ninein isoform 6 mRNA, complete cds, alternatively spliced.
KJ898855 - Synthetic construct Homo sapiens clone ccsbBroadEn_08249 NIN gene, encodes complete protein.
AF223937 - Homo sapiens ninein isotype 1 mRNA, complete cds.
AB527193 - Synthetic construct DNA, clone: pF1KA1565, Homo sapiens NIN gene for ninein, without stop codon, in Flexi system.
BC065521 - Homo sapiens ninein (GSK3B interacting protein), mRNA (cDNA clone IMAGE:5787361), partial cds.
KU997641 - Homo sapiens ninein variant (NIN) mRNA, complete cds.
AL359571 - Homo sapiens mRNA; cDNA DKFZp547G043 (from clone DKFZp547G043).
AK027054 - Homo sapiens cDNA: FLJ23401 fis, clone HEP18813.
AY027794 - Homo sapiens ninein centrosomal protein isoform A (NIN) mRNA, partial cds.
AF186776 - Homo sapiens ninein centrosomal protein mRNA, partial cds.
AK025652 - Homo sapiens cDNA: FLJ21999 fis, clone HEP06618, highly similar to AF212162 Homo sapiens ninein mRNA.
AY027795 - Homo sapiens ninein centrosomal protein isoform B (NIN) mRNA, partial cds.
JD154778 - Sequence 135802 from Patent EP1572962.
AK026083 - Homo sapiens cDNA: FLJ22430 fis, clone HRC09093, highly similar to AF212162 Homo sapiens ninein mRNA.
AY027796 - Homo sapiens ninein centrosomal protein isoform C (NIN) mRNA, partial cds.
AY764156 - Homo sapiens NIN/PDGFRB fusion protein (NIN/PDGFRB fusion) mRNA, exons 28, 12 and partial cds.
BC034708 - Homo sapiens ninein (GSK3B interacting protein), mRNA (cDNA clone IMAGE:4745385), partial cds.
AY736183 - Homo sapiens truncated ninein isoform 1 mRNA, exon and partial cds, alternatively spliced.
JD461999 - Sequence 443023 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NDB8, B7WPA3, C9JSB6, C9JSG2, C9JXL2, ENST00000530997.1, ENST00000530997.2, ENST00000530997.3, ENST00000530997.4, ENST00000530997.5, ENST00000530997.6, KIAA1565, NIN_HUMAN, NM_020921, Q5BKU3, Q6P0P6, Q8N4C6, Q9BWU6, Q9C012, Q9C013, Q9C014, Q9H5I6, Q9HAT7, Q9HBY5, Q9HCK7, Q9UH61, uc324iem.1, uc324iem.2
UCSC ID: ENST00000530997.7_13
RefSeq Accession: NM_020921.4
Protein: Q8N4C6 (aka NIN_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.