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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 Mitotic Metaphase and Anaphase 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).

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

Genomics for ZWILCH Gene

Regulatory Elements for ZWILCH Gene

Enhancers for ZWILCH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F066400 1.7 FANTOM5 Ensembl ENCODE 21.8 -98.3 -98259 13.0 HDGF PKNOX1 WRNIP1 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF143 FOS TIPIN SNAPC5 ZWILCH SNORD16 DIS3L ENSG00000260773 HNRNPA1P44 ENSG00000259202 RPL4 SLC24A1
GH15F066459 1.2 Ensembl ENCODE 23.9 -43.6 -43599 4.1 CBX3 ZFP64 KLF17 SIN3A RARA ZNF335 ZNF121 CBX5 ZNF138 FOS TIPIN ENSG00000260773 SLC24A1 ZWILCH SNAPC5 SNORD16 LOC646358 HACD3 LOC105370868 RPL35AP32
GH15F067171 1.7 FANTOM5 Ensembl ENCODE 12.2 +671.5 671549 10.4 ATF1 PKNOX1 ARNT CREB3L1 ZFP64 SIN3A GATA2 FOS SP3 YY2 ENSG00000260773 IQCH SMAD3 ZWILCH SNAPC5 TIPIN AAGAB SNORD16 MAP2K5 SKOR1
GH15F067072 1.8 FANTOM5 Ensembl ENCODE 10.9 +578.8 578838 23.6 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 YY1 ZNF143 SNORD16 IQCH-AS1 ENSG00000260773 ENSG00000259202 ENSG00000259410 PIAS1 SMAD3 RPL35AP32 ZWILCH AAGAB
GH15F067129 1.8 FANTOM5 Ensembl ENCODE 10.9 +636.3 636263 23.0 HDGF PKNOX1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ENSG00000260773 SNORD16 SMAD3 IQCH-AS1 AAGAB IQCH ZWILCH SKOR1 PIR53240 PIR54457
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZWILCH on UCSC Golden Path with GeneCards custom track

Promoters for ZWILCH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000127563 41 3600 PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for ZWILCH Gene

Chromosome:
15
Start:
66,504,959 bp from pter
End:
66,550,128 bp from pter
Size:
45,170 bases
Orientation:
Plus strand

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

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

No data available for Gene Families for ZWILCH Gene

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).

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

Inhibitory RNA Products

Flow Cytometry 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

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:0007067 mitotic nuclear division IEA --
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

Transcripts for ZWILCH Gene

Unigene Clusters for ZWILCH Gene

Zwilch kinetochore protein:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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
genes like me logo Genes that share expression patterns with ZWILCH: view

No data available for mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia ZWILCH 34 35
  • 89.49 (n)
cow
(Bos Taurus)
Mammalia ZWILCH 34 35
  • 88.96 (n)
mouse
(Mus musculus)
Mammalia Zwilch 34 16 35
  • 83.98 (n)
rat
(Rattus norvegicus)
Mammalia Zwilch 34
  • 82.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ZWILCH 35
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ZWILCH 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZWILCH 34 35
  • 65.53 (n)
lizard
(Anolis carolinensis)
Reptilia ZWILCH 35
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zwilch 34
  • 61.33 (n)
Str.17630 34
zebrafish
(Danio rerio)
Actinopterygii zwilch 34 35
  • 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 Sequence Context AA Info Type
rs10438349 -- 66,543,957(+) TTTAA(A/G)GAAGA intron-variant
rs10545359 -- 66,533,714(+) AAACT(-/AC)ACACA intron-variant
rs10587291 -- 66,517,256(+) TTTCC(-/TT)TTTCT intron-variant
rs11071896 -- 66,528,912(+) TTCGG(A/G)GTGAT nc-transcript-variant, reference, missense
rs11071898 -- 66,548,695(+) ATTGG(A/G)AAAAC intron-variant, nc-transcript-variant, utr-variant-3-prime

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

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

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)

Relevant External Links 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

Relevant External Links for ZWILCH

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

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 B.C. … Goldberg M.L. (Mol. Biol. Cell 2003) 2 3 4 22 64
  2. Structural analysis of the RZZ complex reveals common ancestry with multisubunit vesicle tethering machinery. (PMID: 20462495) Civril F. … Musacchio A. (Structure 2010) 3 4 22 64
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 64
  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. … FAPrsti A. (Eur. J. Cancer 2009) 3 46 64
  5. ZW10 links mitotic checkpoint signaling to the structural kinetochore. (PMID: 15824131) Kops G.J.P.L. … Cleveland D.W. (J. Cell Biol. 2005) 3 4 64

Products for ZWILCH Gene

Sources for ZWILCH Gene

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