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Aliases for ZWILCH Gene

Aliases for ZWILCH Gene

  • Zwilch Kinetochore Protein 2 3 5
  • HZwilch 3 4
  • Zwilch, Kinetochore Associated, Homolog (Drosophila) 2
  • Zwilch, Kinetochore Associated, Homolog 3
  • Homolog Of Drosophila Zwilch 3
  • Protein Zwilch Homolog 3
  • KNTC1AP 3

External Ids for ZWILCH Gene

Previous GeneCards Identifiers for ZWILCH Gene

  • GC15P064585
  • GC15P066797
  • GC15P043633

Summaries for ZWILCH Gene

GeneCards Summary for ZWILCH Gene

ZWILCH (Zwilch Kinetochore Protein) is a Protein Coding gene. Among its related pathways are Signaling by Rho GTPases and Cell Cycle, Mitotic.

UniProtKB/Swiss-Prot for ZWILCH Gene

  • 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 machinery is proposed to depend on its association in the mitotic RZZ complex (PubMed:15824131).

Additional gene information for ZWILCH Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZWILCH Gene

Genomics for ZWILCH Gene

GeneHancer (GH) Regulatory Elements for ZWILCH Gene

Promoters and enhancers for ZWILCH Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I066502 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 561.7 -0.7 -713 4.3 ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 ZC3H11A SNORD16 ZWILCH RPL4 SNORD18A PIR57266 GC15M066537 GC15M066535 INTS14 ENSG00000260773 RPL35AP32
GH15I065609 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 30.6 -893.5 -893547 3.8 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 INTS14 SLC24A1 PARP16 ENSG00000260773 SNORD16 RPL35AP32 PDCD7 ENSG00000264937 ENSG00000259635 TIPIN
GH15I066385 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 19.9 -115.9 -115880 6.5 ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC SSRP1 MAP2K1 TIPIN SNAPC5 ZWILCH INTS14 SLC24A1 RPL35AP32 ENSG00000260773 SNORD16 DIS3L
GH15I065817 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 25.4 -684.8 -684826 4.7 HDGF PKNOX1 SMAD1 ARNT IRF4 TCF12 GATA2 ATF7 RUNX3 KDM4B DENND4A ZWILCH INTS14 PDCD7 SLC24A1 ENSG00000260773 TIPIN MTFMT RAB11A SNORD13E
GH15I067072 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 23.8 +570.5 570531 7 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FOS DEK SP5 JUNB GC15P068695 ENSG00000260773 ZWILCH SMAD3 TIPIN IQCH-AS1 IQCH AAGAB SNORD16 GC15P069447
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ZWILCH on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ZWILCH gene promoter:

Genomic Locations for ZWILCH Gene

Genomic Locations for ZWILCH Gene
chr15:66,504,959-66,550,128
(GRCh38/hg38)
Size:
45,170 bases
Orientation:
Plus strand
chr15:66,797,297-66,842,115
(GRCh37/hg19)

Genomic View for ZWILCH Gene

Genes around ZWILCH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZWILCH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZWILCH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZWILCH Gene

Proteins for ZWILCH Gene

  • Protein details for ZWILCH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H900-ZWILC_HUMAN
    Recommended name:
    Protein zwilch homolog
    Protein Accession:
    Q9H900
    Secondary Accessions:
    • B3KVB8
    • Q6N049
    • Q8N404
    • Q96SY7
    • Q9NWG7

    Protein attributes for ZWILCH Gene

    Size:
    591 amino acids
    Molecular mass:
    67214 Da
    Quaternary structure:
    • Component of the RZZ complex composed of KNTC1/ROD, ZW10 and ZWILCH; in the complex interacts directly with KNTC1/ROD.
    Miscellaneous:
    • ZWILCH gene is deleted in a patient suffering from colorectal cancer with chromosomal instability.
    SequenceCaution:
    • Sequence=AK000898; Type=Erroneous termination; Positions=366; Note=Translated as Leu.; Evidence={ECO:0000305}; Sequence=AK000898; Type=Frameshift; Positions=248; Evidence={ECO:0000305}; Sequence=BAB55133.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ZWILCH Gene

    Alternative splice isoforms for ZWILCH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZWILCH Gene

Post-translational modifications for ZWILCH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ZWILCH Gene

Domains & Families for ZWILCH Gene

Gene Families for ZWILCH Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ZWILCH Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ZWILCH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H900

UniProtKB/Swiss-Prot:

ZWILC_HUMAN :
  • Belongs to the ZWILCH family.
Family:
  • Belongs to the ZWILCH family.
genes like me logo Genes that share domains with ZWILCH: view

Function for ZWILCH Gene

Molecular function for ZWILCH Gene

UniProtKB/Swiss-Prot 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 machinery is proposed to depend on its association in the mitotic RZZ complex (PubMed:15824131).

Phenotypes From GWAS Catalog for ZWILCH Gene

Gene Ontology (GO) - Molecular Function for ZWILCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12686595
genes like me logo Genes that share ontologies with ZWILCH: view
genes like me logo Genes that share phenotypes with ZWILCH: view

Animal Models for ZWILCH Gene

MGI Knock Outs for ZWILCH:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ZWILCH Gene

Localization for ZWILCH Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZWILCH Gene

Chromosome, centromere, kinetochore.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZWILCH gene
Compartment Confidence
cytosol 5
cytoskeleton 2
nucleus 2

Gene Ontology (GO) - Cellular Components for ZWILCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000776 kinetochore IDA 12686595
GO:0000777 condensed chromosome kinetochore IEA --
GO:0005694 chromosome IEA --
GO:0005829 cytosol TAS --
GO:1990423 RZZ complex IDA 20462495
genes like me logo Genes that share ontologies with ZWILCH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ZWILCH Gene

Pathways & Interactions for ZWILCH Gene

genes like me logo Genes that share pathways with ZWILCH: view

Pathways by source for ZWILCH Gene

Gene Ontology (GO) - Biological Process for ZWILCH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007062 sister chromatid cohesion TAS --
GO:0007093 mitotic cell cycle checkpoint IMP 15824131
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with ZWILCH: view

No data available for SIGNOR curated interactions for ZWILCH Gene

Drugs & Compounds for ZWILCH Gene

No Compound Related Data Available

Transcripts for ZWILCH Gene

Unigene Clusters for ZWILCH Gene

Zwilch kinetochore protein:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZWILCH Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7
SP1: -
SP2:
SP3:

Relevant External Links for ZWILCH Gene

GeneLoc Exon Structure for
ZWILCH
ECgene alternative splicing isoforms for
ZWILCH

Expression for ZWILCH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZWILCH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ZWILCH Gene

This gene is overexpressed in Testis (x5.1).

Protein differential expression in normal tissues from HIPED for ZWILCH Gene

This gene is overexpressed in Bone (59.1) and Breast (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ZWILCH Gene



Protein tissue co-expression partners for ZWILCH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ZWILCH Gene:

ZWILCH

SOURCE GeneReport for Unigene cluster for ZWILCH Gene:

Hs.21331

Evidence on tissue expression from TISSUES for ZWILCH Gene

  • Nervous system(3.9)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with ZWILCH: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ZWILCH Gene

Orthologs for ZWILCH Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZWILCH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZWILCH 33 34
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia ZWILCH 33 34
  • 89.49 (n)
cow
(Bos Taurus)
Mammalia ZWILCH 33 34
  • 88.96 (n)
mouse
(Mus musculus)
Mammalia Zwilch 33 16 34
  • 83.98 (n)
rat
(Rattus norvegicus)
Mammalia Zwilch 33
  • 82.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ZWILCH 34
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ZWILCH 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZWILCH 33 34
  • 65.53 (n)
lizard
(Anolis carolinensis)
Reptilia ZWILCH 34
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zwilch 33
  • 61.33 (n)
Str.17630 33
zebrafish
(Danio rerio)
Actinopterygii zwilch 33 34
  • 54.79 (n)
Species where no ortholog for ZWILCH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ZWILCH Gene

ENSEMBL:
Gene Tree for ZWILCH (if available)
TreeFam:
Gene Tree for ZWILCH (if available)

Paralogs for ZWILCH Gene

No data available for Paralogs for ZWILCH Gene

Variants for ZWILCH Gene

Sequence variations from dbSNP and Humsavar for ZWILCH Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000094159 -- 66,517,448(+) A/G intron_variant
rs1000116453 -- 66,535,034(+) A/G intron_variant
rs1000148401 -- 66,515,817(+) C/G intron_variant
rs1000190500 -- 66,534,672(+) C/T intron_variant
rs1000289102 -- 66,505,351(+) C/A/G 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ZWILCH Gene

Variant ID Type Subtype PubMed ID
esv1595826 CNV insertion 17803354
esv2674741 CNV deletion 23128226
esv3581751 CNV loss 25503493
nsv1108964 CNV deletion 24896259
nsv476811 CNV novel sequence insertion 20440878

Variation tolerance for ZWILCH Gene

Residual Variation Intolerance Score: 64.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.05; 84.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ZWILCH Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZWILCH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZWILCH Gene

Disorders for ZWILCH Gene

Additional Disease Information for ZWILCH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ZWILCH Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ZWILCH Gene

Publications for ZWILCH Gene

  1. Zwilch, a new component of the ZW10/ROD complex required for kinetochore functions. (PMID: 12686595) Williams BC … Goldberg ML (Molecular biology of the cell 2003) 2 3 4 22 58
  2. Structural analysis of the RZZ complex reveals common ancestry with multisubunit vesicle tethering machinery. (PMID: 20462495) Civril F … Musacchio A (Structure (London, England : 1993) 2010) 3 4 22 58
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
  4. Single nucleotide polymorphisms in chromosomal instability genes and risk and clinical outcome of breast cancer: a Swedish prospective case-control study. (PMID: 19008095) Brendle A … Försti A (European journal of cancer (Oxford, England : 1990) 2009) 3 44 58
  5. ZW10 links mitotic checkpoint signaling to the structural kinetochore. (PMID: 15824131) Kops GJ … Cleveland DW (The Journal of cell biology 2005) 3 4 58

Products for ZWILCH Gene

Sources for ZWILCH Gene

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