Gene Gene information from NCBI Gene database.
Entrez ID 55055
Gene name Zwilch kinetochore protein
Gene symbol ZWILCH
Synonyms (NCBI Gene)
KNTC1APhZwilch
Chromosome 15
Chromosome location 15q22.31
miRNA miRNA information provided by mirtarbase database.
523
miRTarBase ID miRNA Experiments Reference
MIRT723744 hsa-miR-8083 HITS-CLIP 19536157
MIRT723743 hsa-miR-4719 HITS-CLIP 19536157
MIRT723742 hsa-miR-6814-5p HITS-CLIP 19536157
MIRT723741 hsa-miR-3927-5p HITS-CLIP 19536157
MIRT723739 hsa-miR-3124-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IDA 12686595, 15824131
GO:0000776 Component Kinetochore IEA
GO:0005515 Function Protein binding IPI 12686595, 20462495
GO:0005694 Component Chromosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609984 25468 ENSG00000174442
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H900
Protein name Protein zwilch homolog (hZwilch)
Protein 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. Its function related to the spindle assembly machin
PDB 3IF8 , 7QPG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09817 Zwilch 31 573 RZZ complex, subunit zwilch Family
Sequence
Sequence length 591
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases Activate Formins
Mitotic Prometaphase
EML4 and NUDC in mitotic spindle formation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatocellular carcinoma Uncertain significance rs376356151 RCV005932364
Malignant tumor of esophagus Benign rs112681165 RCV005906533
Uterine corpus endometrial carcinoma Benign rs112681165 RCV005906535
Uveal melanoma Benign rs112681165 RCV005906534
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autism Spectrum Disorder Associate 31332282
Carcinoma Hepatocellular Associate 31698564