Human Gene NDEL1 (ENST00000402554.7) from GENCODE V44
  Description: Homo sapiens nudE neurodevelopment protein 1 like 1 (NDEL1), transcript variant 1, mRNA. (from RefSeq NM_001025579)
RefSeq Summary (NM_001025579): This gene encodes a coiled-coil protein that plays a role in multiple processes including cytoskeletal organization, cell signaling and neuron migration, outgrowth and maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Mar 2012].
Gencode Transcript: ENST00000402554.7
Gencode Gene: ENSG00000166579.16
Transcript (Including UTRs)
   Position: hg38 chr17:8,435,908-8,467,658 Size: 31,751 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg38 chr17:8,444,272-8,466,937 Size: 22,666 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:8,435,908-8,467,658)mRNA (may differ from genome)Protein (328 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NDEL1_HUMAN
DESCRIPTION: RecName: Full=Nuclear distribution protein nudE-like 1; Short=Protein Nudel; AltName: Full=Mitosin-associated protein 1;
FUNCTION: Required for organization of the cellular microtubule array and microtubule anchoring at the centrosome. May regulate microtubule organization at least in part by targeting the microtubule severing protein KATNA1 to the centrosome. Also positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus ends. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the centripetal motion of secretory vesicles and the coupling of the nucleus and centrosome. Also required during brain development for the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Plays a role, together with DISC1, in the regulation of neurite outgrowth. Required for mitosis in some cell types but appears to be dispensible for mitosis in cortical neuronal progenitors, which instead requires NDE1. Facilitates the polymerization of neurofilaments from the individual subunits NEFH and NEFL.
SUBUNIT: Interacts with YWHAE. Interacts directly with NEFL and indirectly with NEFH. Interacts with microtubules (By similarity). Self-associates. Interacts with DISC1, dynein, dynactin, tubulin gamma, KATNA1, KATNB1, PAFAH1B1, PCM1 and PCNT. Interacts (via C- terminus) with CENPF. Interacts with ZNF365.
INTERACTION: P49454:CENPF; NbExp=5; IntAct=EBI-928842, EBI-968343; Q9NRI5:DISC1; NbExp=13; IntAct=EBI-928842, EBI-529989;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, centrosome. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Note=Localizes to the cell body of the motor neurons and colocalizes with assembled neurofilaments within axonal processes. Localizes to the microtubules of the manchette in elongated spermatids. Colocalizes with DISC1 in the perinuclear region, including the centrosome (By similarity). Localizes to the interphase centrosome and the mitotic spindle. Localizes to the kinetochore in a CENPF-dependent manner.
TISSUE SPECIFICITY: Expressed in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle.
DEVELOPMENTAL STAGE: Expression peaks in mitosis.
PTM: Phosphorylated in mitosis. Can be phosphorylated by CDK1, CDK5 and MAPK1. Phosphorylation by CDK5 promotes interaction with KATNA1 and YWHAE.
PTM: Palmitoylation at Cys-273 reduces affinity for dynein.
SIMILARITY: Belongs to the nudE family.
CAUTION: Was originally (PubMed:15728732) thought to function as an oligopeptidase (NUDEL-oligopeptidase or endooligopeptidase A) which could regulate peptide levels relevant to brain function.

-  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: NDEL1
Diseases sorted by gene-association score: congenital nervous system abnormality (2), miller-dieker lissencephaly syndrome (1), physical disorder (1)

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 35.16 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 763.07 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 -64.80150-0.432 Picture PostScript Text
3' UTR -235.30721-0.326 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
IPR006964 - NUDE_C

Pfam Domains:
PF04880 - NUDE protein, C-terminal conserved region

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2V66 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9GZM8
FrontTopSide
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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008017 microtubule binding
GO:0042802 identical protein binding
GO:0043014 alpha-tubulin binding
GO:0044877 macromolecular complex binding
GO:0048487 beta-tubulin binding
GO:0070012 oligopeptidase activity

Biological Process:
GO:0000132 establishment of mitotic spindle orientation
GO:0000226 microtubule cytoskeleton organization
GO:0001764 neuron migration
GO:0001833 inner cell mass cell proliferation
GO:0006508 proteolysis
GO:0007020 microtubule nucleation
GO:0007059 chromosome segregation
GO:0007100 mitotic centrosome separation
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0008090 retrograde axonal transport
GO:0008286 insulin receptor signaling pathway
GO:0010975 regulation of neuron projection development
GO:0016477 cell migration
GO:0021799 cerebral cortex radially oriented cell migration
GO:0021955 central nervous system neuron axonogenesis
GO:0030154 cell differentiation
GO:0031175 neuron projection development
GO:0032418 lysosome localization
GO:0033157 regulation of intracellular protein transport
GO:0043547 positive regulation of GTPase activity
GO:0045773 positive regulation of axon extension
GO:0047496 vesicle transport along microtubule
GO:0048680 positive regulation of axon regeneration
GO:0051081 nuclear envelope disassembly
GO:0051303 establishment of chromosome localization
GO:0051642 centrosome localization
GO:0060052 neurofilament cytoskeleton organization
GO:0090630 activation of GTPase activity
GO:1900029 positive regulation of ruffle assembly
GO:1990138 neuron projection extension
GO:2000574 regulation of microtubule motor activity

Cellular Component:
GO:0000775 chromosome, centromeric region
GO:0000776 kinetochore
GO:0000777 condensed chromosome kinetochore
GO:0005635 nuclear envelope
GO:0005694 chromosome
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005815 microtubule organizing center
GO:0005819 spindle
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005871 kinesin complex
GO:0005874 microtubule
GO:0005875 microtubule associated complex
GO:0008021 synaptic vesicle
GO:0030424 axon
GO:0031252 cell leading edge
GO:0043203 axon hillock
GO:0044297 cell body
GO:0060053 neurofilament cytoskeleton
GO:0090724 central region of growth cone
GO:1904115 axon cytoplasm


-  Descriptions from all associated GenBank mRNAs
  LF209113 - JP 2014500723-A/16616: Polycomb-Associated Non-Coding RNAs.
MA444690 - JP 2018138019-A/16616: Polycomb-Associated Non-Coding RNAs.
AK299559 - Homo sapiens cDNA FLJ55173 complete cds, highly similar to Nuclear distribution protein nudE-like 1.
AF217798 - Homo sapiens endooligopeptidase A mRNA, complete cds.
AK056014 - Homo sapiens cDNA FLJ31452 fis, clone NT2NE2001000, highly similar to Nuclear distribution protein nudE-like 1.
BC026101 - Homo sapiens nudE nuclear distribution gene E homolog (A. nidulans)-like 1, mRNA (cDNA clone MGC:32953 IMAGE:4820855), complete cds.
AF182078 - Homo sapiens mitosin-associated protein MITAP1 (MITAP1) mRNA, complete cds.
AY004871 - Homo sapiens Nudel mRNA, complete cds.
AL832648 - Homo sapiens mRNA; cDNA DKFZp451M0318 (from clone DKFZp451M0318).
JD480267 - Sequence 461291 from Patent EP1572962.
CU693134 - Synthetic construct Homo sapiens gateway clone IMAGE:100019034 5' read NDEL1 mRNA.
HQ447858 - Synthetic construct Homo sapiens clone IMAGE:100071203; CCSB001734_02 nudE nuclear distribution gene E homolog (A. nidulans)-like 1 (NDEL1) gene, encodes complete protein.
KJ899678 - Synthetic construct Homo sapiens clone ccsbBroadEn_09072 NDEL1 gene, encodes complete protein.
LF326253 - JP 2014500723-A/133756: Polycomb-Associated Non-Coding RNAs.
MA561830 - JP 2018138019-A/133756: Polycomb-Associated Non-Coding RNAs.
LF326251 - JP 2014500723-A/133754: Polycomb-Associated Non-Coding RNAs.
MA561828 - JP 2018138019-A/133754: Polycomb-Associated Non-Coding RNAs.
LF326250 - JP 2014500723-A/133753: Polycomb-Associated Non-Coding RNAs.
MA561827 - JP 2018138019-A/133753: Polycomb-Associated Non-Coding RNAs.
LF326249 - JP 2014500723-A/133752: Polycomb-Associated Non-Coding RNAs.
MA561826 - JP 2018138019-A/133752: Polycomb-Associated Non-Coding RNAs.
LF326248 - JP 2014500723-A/133751: Polycomb-Associated Non-Coding RNAs.
MA561825 - JP 2018138019-A/133751: Polycomb-Associated Non-Coding RNAs.
LF326247 - JP 2014500723-A/133750: Polycomb-Associated Non-Coding RNAs.
MA561824 - JP 2018138019-A/133750: Polycomb-Associated Non-Coding RNAs.
LF326245 - JP 2014500723-A/133748: Polycomb-Associated Non-Coding RNAs.
MA561822 - JP 2018138019-A/133748: Polycomb-Associated Non-Coding RNAs.
AF038203 - Homo sapiens clone 23596 mRNA sequence.
LF326244 - JP 2014500723-A/133747: Polycomb-Associated Non-Coding RNAs.
MA561821 - JP 2018138019-A/133747: Polycomb-Associated Non-Coding RNAs.
LF326243 - JP 2014500723-A/133746: Polycomb-Associated Non-Coding RNAs.
MA561820 - JP 2018138019-A/133746: Polycomb-Associated Non-Coding RNAs.
AK123802 - Homo sapiens cDNA FLJ41808 fis, clone NOVAR2001783.
AK128514 - Homo sapiens cDNA FLJ46671 fis, clone TRACH3008632.
BC131748 - Homo sapiens cDNA clone IMAGE:40118222.
AK095179 - Homo sapiens cDNA FLJ37860 fis, clone BRSSN2015493.
LF326238 - JP 2014500723-A/133741: Polycomb-Associated Non-Coding RNAs.
MA561815 - JP 2018138019-A/133741: Polycomb-Associated Non-Coding RNAs.
JD418251 - Sequence 399275 from Patent EP1572962.
JD223220 - Sequence 204244 from Patent EP1572962.
JD544370 - Sequence 525394 from Patent EP1572962.
JD148699 - Sequence 129723 from Patent EP1572962.
JD319812 - Sequence 300836 from Patent EP1572962.
JD152552 - Sequence 133576 from Patent EP1572962.
JD493938 - Sequence 474962 from Patent EP1572962.
JD377894 - Sequence 358918 from Patent EP1572962.
JD497535 - Sequence 478559 from Patent EP1572962.
JD192656 - Sequence 173680 from Patent EP1572962.
JD261120 - Sequence 242144 from Patent EP1572962.
JD362975 - Sequence 343999 from Patent EP1572962.
JD241251 - Sequence 222275 from Patent EP1572962.
JD142916 - Sequence 123940 from Patent EP1572962.
JD345259 - Sequence 326283 from Patent EP1572962.
JD250279 - Sequence 231303 from Patent EP1572962.
JD123030 - Sequence 104054 from Patent EP1572962.
JD359442 - Sequence 340466 from Patent EP1572962.
JD237004 - Sequence 218028 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_Lis1Pathway - Lissencephaly gene (LIS1) in neuronal migration and development

Reactome (by CSHL, EBI, and GO)

Protein Q9GZM8 (Reactome details) participates in the following event(s):

R-HSA-141409 Mad1 binds kinetochore
R-HSA-375302 Kinetochore capture of astral microtubules
R-HSA-5666129 CDC42:GTP recruits DIAPH2-2 to kinetochores
R-HSA-5666169 Kinetochore capture of astral microtubules is positively regulated by CDC42:GTP:p-S196-DIAPH2-2
R-HSA-141431 MAD2 associates with the Mad1 kinetochore complex
R-HSA-141439 Release of activated MAD2 from kinetochores
R-HSA-2467811 Separation of sister chromatids
R-HSA-2467809 ESPL1 (Separase) cleaves centromeric cohesin
R-HSA-5666160 AURKB phosphorylates DIAPH2-2 at kinetochores
R-HSA-141422 MAD2 converted to an inhibitory state via interaction with Mad1
R-HSA-1638821 PP2A-B56 dephosphorylates centromeric cohesin
R-HSA-1638803 Phosphorylation of cohesin by PLK1 at centromeres
R-HSA-2468287 CDK1 phosphorylates CDCA5 (Sororin) at centromeres
R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-68877 Mitotic Prometaphase
R-HSA-5663220 RHO GTPases Activate Formins
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-141424 Amplification of signal from the kinetochores
R-HSA-68886 M Phase
R-HSA-195258 RHO GTPase Effectors
R-HSA-68882 Mitotic Anaphase
R-HSA-69618 Mitotic Spindle Checkpoint
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-194315 Signaling by Rho GTPases
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-1640170 Cell Cycle
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B3KP93, D3DTS0, ENST00000402554.1, ENST00000402554.2, ENST00000402554.3, ENST00000402554.4, ENST00000402554.5, ENST00000402554.6, EOPA, MITAP1, NDEL1_HUMAN, NM_001025579, NUDEL, Q86T80, Q8TAR7, Q9GZM8, Q9UH50, uc002gli.1, uc002gli.2, uc002gli.3, uc002gli.4, uc002gli.5
UCSC ID: ENST00000402554.7
RefSeq Accession: NM_001025579
Protein: Q9GZM8 (aka NDEL1_HUMAN)
CCDS: CCDS32564.1

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