Human Gene ZWILCH (ENST00000307897.10_4) from GENCODE V47lift37
  Description: zwilch kinetochore protein, transcript variant 1 (from RefSeq NM_017975.5)
Gencode Transcript: ENST00000307897.10_4
Gencode Gene: ENSG00000174442.12_10
Transcript (Including UTRs)
   Position: hg19 chr15:66,797,664-66,842,468 Size: 44,805 Total Exon Count: 19 Strand: +
Coding Region
   Position: hg19 chr15:66,797,677-66,839,017 Size: 41,341 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:66,797,664-66,842,468)mRNA (may differ from genome)Protein (591 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ZWILC_HUMAN
DESCRIPTION: RecName: Full=Protein zwilch homolog; Short=hZwilch;
FUNCTION: Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores.
SUBUNIT: Component of the RZZ complex composed of KNTC1/ROD, ZW10 and ZWILCH. Interacts directly with KNTC1/ROD. Component of the NRZ complex composed of ZWILCH, KNTC1/ROD, RINT1, ZW10 and NBAS.
SUBCELLULAR LOCATION: Chromosome, centromere, kinetochore.
MISCELLANEOUS: ZWILCH gene is deleted in a patient suffering from colorectal cancer with chromosomal instability.
SIMILARITY: Belongs to the ZWILCH family.
SEQUENCE CAUTION: Sequence=AK000898; Type=Erroneous termination; Positions=366; Note=Translated as Leu; Sequence=AK000898; Type=Frameshift; Positions=248; Sequence=BAB55133.1; Type=Erroneous initiation;

-  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


-  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: 16.62 RPKM in Testis
Total median expression: 104.29 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
3' UTR -400.401806-0.222 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
IPR018630 - RZZ-complex_zwilch

Pfam Domains:
PF09817 - RZZ complex, subunit zwilch

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3IF8 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9H900
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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:0005515 protein binding

Biological Process:
GO:0007049 cell cycle
GO:0007093 mitotic cell cycle checkpoint
GO:0051301 cell division

Cellular Component:
GO:0000775 chromosome, centromeric region
GO:0000776 kinetochore
GO:0000777 condensed chromosome kinetochore
GO:0005694 chromosome
GO:0005829 cytosol
GO:1990423 RZZ complex


-  Descriptions from all associated GenBank mRNAs
  AK023175 - Homo sapiens cDNA FLJ13113 fis, clone NT2RP3002590.
BX640701 - Homo sapiens mRNA; cDNA DKFZp686A05136 (from clone DKFZp686A05136).
AK122787 - Homo sapiens cDNA FLJ16343 fis, clone TESTI2031529, highly similar to Homo sapiens Zwilch, kinetochore associated, homolog (Drosophila) (ZWILCH), mRNA.
AK291048 - Homo sapiens cDNA FLJ77716 complete cds, highly similar to Homo sapiens Zwilch, kinetochore associated, homolog (Drosophila), mRNA.
BC090041 - Homo sapiens Zwilch, kinetochore associated, homolog (Drosophila), mRNA (cDNA clone MGC:111034 IMAGE:6472990), complete cds.
BC036900 - Homo sapiens Zwilch, kinetochore associated, homolog (Drosophila), mRNA (cDNA clone MGC:46079 IMAGE:5535106), complete cds.
AK000898 - Homo sapiens cDNA FLJ10036 fis, clone HEMBA1000946.
JD241247 - Sequence 222271 from Patent EP1572962.
KJ902752 - Synthetic construct Homo sapiens clone ccsbBroadEn_12146 ZWILCH gene, encodes complete protein.
JD564670 - Sequence 545694 from Patent EP1572962.
AK027468 - Homo sapiens cDNA FLJ14562 fis, clone NT2RM4000027.
JD378516 - Sequence 359540 from Patent EP1572962.
JD449100 - Sequence 430124 from Patent EP1572962.
JD304083 - Sequence 285107 from Patent EP1572962.

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

Protein Q9H900 (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: B3KVB8, ENST00000307897.1, ENST00000307897.2, ENST00000307897.3, ENST00000307897.4, ENST00000307897.5, ENST00000307897.6, ENST00000307897.7, ENST00000307897.8, ENST00000307897.9, NM_017975, Q6N049, Q8N404, Q96SY7, Q9H900, Q9NWG7, uc317oej.1, uc317oej.2, ZWILC_HUMAN
UCSC ID: ENST00000307897.10_4
RefSeq Accession: NM_017975.5
Protein: Q9H900 (aka ZWILC_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.