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Aliases for DSN1 Gene

Aliases for DSN1 Gene

  • DSN1 Homolog, MIS12 Kinetochore Complex Component 2 3 5
  • C20orf172 3 4
  • MIS13 3 4
  • DSN1, MIND Kinetochore Complex Component, Homolog (S. Cerevisiae) 2
  • DSN1, MIND Kinetochore Complex Component, Homolog 3
  • Kinetochore-Associated Protein DSN1 Homolog 3
  • DSN1, MIS12 Kinetochore Complex Component 3
  • Kinetochore Null 3 Homolog (C. Elegans) 2
  • Chromosome 20 Open Reading Frame 172 2
  • Kinetochore Null 3 Homolog 3
  • DJ469A13.2 3
  • HKNL-3 3
  • KNL3 3

External Ids for DSN1 Gene

Previous HGNC Symbols for DSN1 Gene

  • C20orf172

Previous GeneCards Identifiers for DSN1 Gene

  • GC20M034815
  • GC20M035380
  • GC20M032116

Summaries for DSN1 Gene

Entrez Gene Summary for DSN1 Gene

  • This gene encodes a kinetochore protein that functions as part of the minichromosome instability-12 centromere complex. The encoded protein is required for proper kinetochore assembly and progression through the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]

GeneCards Summary for DSN1 Gene

DSN1 (DSN1 Homolog, MIS12 Kinetochore Complex Component) is a Protein Coding gene. Among its related pathways are Cell Cycle, Mitotic and Mitotic Prometaphase.

UniProtKB/Swiss-Prot for DSN1 Gene

  • Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis.

Gene Wiki entry for DSN1 Gene

Additional gene information for DSN1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DSN1 Gene

Genomics for DSN1 Gene

Regulatory Elements for DSN1 Gene

Enhancers for DSN1 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
GH20H036091 1.6 FANTOM5 ENCODE dbSUPER 28 +680.7 680739 3 ZNF133 SIN3A ZNF2 ZNF766 GLIS2 GATA2 ELK1 KLF7 YY2 ZNF488 DSN1 ERGIC3 EPB41L1 HMGB3P2 RPF2P1 C20orf173 ENSG00000242507 DLGAP4-AS1 CNBD2 LOC102725201
GH20H037411 1.7 FANTOM5 Ensembl ENCODE dbSUPER 22.3 -638.4 -638351 1 ARNT ZSCAN4 KLF17 YBX1 ZNF48 ZNF207 ZNF548 RUNX3 MCM3 OVOL3 RPN2 DSN1 RBL1 NNAT CTNNBL1 VSTM2L TLDC2 TGIF2 DLGAP4-AS1 GHRH
GH20H037177 1.4 ENCODE dbSUPER 24.2 -405.5 -405450 3 PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 TTI1 AAR2 RBL1 RPN2 DSN1 CTNNBL1 MROH8 DLGAP4-AS1 RPRD1B
GH20H037288 1.4 ENCODE dbSUPER 20.2 -516.1 -516120 2 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B RBL1 DSN1 TTI1 RPN2 MANBAL PIR39095
GH20H035881 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.9 +890.0 890042 4 HDGF PKNOX1 ARID4B SIN3A FEZF1 ZNF2 GTF3C2 ZNF121 ELK1 ZNF143 CPNE1 RBM39 RBM12 ERGIC3 RPL36P4 TRPC4AP EIF6 DSN1 AAR2 RNU6-937P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DSN1 on UCSC Golden Path with GeneCards custom track

Promoters for DSN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000136738 -73 1401 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 ZNF207

Genomic Location for DSN1 Gene

Chromosome:
20
Start:
36,751,791 bp from pter
End:
36,773,827 bp from pter
Size:
22,037 bases
Orientation:
Minus strand

Genomic View for DSN1 Gene

Genes around DSN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DSN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DSN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DSN1 Gene

Proteins for DSN1 Gene

  • Protein details for DSN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H410-DSN1_HUMAN
    Recommended name:
    Kinetochore-associated protein DSN1 homolog
    Protein Accession:
    Q9H410
    Secondary Accessions:
    • B4DWT2
    • E1P5U9
    • Q5JW55
    • Q5JW56
    • Q9H8P4

    Protein attributes for DSN1 Gene

    Size:
    356 amino acids
    Molecular mass:
    40067 Da
    Quaternary structure:
    • Component of the MIS12 complex composed of MIS12, DSN1, NSL1 and PMF1. Also interacts with KNL1, CBX3 and CBX5. Interacts with KNSTRN.
    SequenceCaution:
    • Sequence=BAB14564.1; Type=Frameshift; Positions=277; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DSN1 Gene

    Alternative splice isoforms for DSN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DSN1 Gene

Post-translational modifications for DSN1 Gene

  • Ubiquitination at isoforms=2, 3, 4157 and posLast=217217
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DSN1 Gene

Domains & Families for DSN1 Gene

Gene Families for DSN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for DSN1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DSN1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DSN1: view

No data available for UniProtKB/Swiss-Prot for DSN1 Gene

Function for DSN1 Gene

Molecular function for DSN1 Gene

UniProtKB/Swiss-Prot Function:
Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis.

Gene Ontology (GO) - Molecular Function for DSN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15502821
genes like me logo Genes that share ontologies with DSN1: view
genes like me logo Genes that share phenotypes with DSN1: view

Animal Model Products

CRISPR Products

miRNA for DSN1 Gene

miRTarBase miRNAs that target DSN1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DSN1
  • Applied Biological Materials Clones for DSN1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DSN1 Gene

Localization for DSN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DSN1 Gene

Nucleus. Chromosome, centromere, kinetochore. Note=Associated with the kinetochore. {ECO:0000269 PubMed:15502821, ECO:0000269 PubMed:16585270}.

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 DSN1 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
cytoskeleton 4
lysosome 4
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DSN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000444 MIS12/MIND type complex IDA 16585270
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 kinetochore IEA --
GO:0000777 condensed chromosome kinetochore IDA 15371340
GO:0000818 nuclear MIS12/MIND complex IBA --
genes like me logo Genes that share ontologies with DSN1: view

Pathways & Interactions for DSN1 Gene

genes like me logo Genes that share pathways with DSN1: view

Pathways by source for DSN1 Gene

Interacting Proteins for DSN1 Gene

SIGNOR curated interactions for DSN1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for DSN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000070 mitotic sister chromatid segregation IBA --
GO:0007049 cell cycle IEA --
GO:0007059 chromosome segregation IEA --
GO:0007062 sister chromatid cohesion TAS --
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with DSN1: view

Drugs & Compounds for DSN1 Gene

No Compound Related Data Available

Transcripts for DSN1 Gene

Unigene Clusters for DSN1 Gene

DSN1, MIND kinetochore complex component, homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DSN1
  • Applied Biological Materials Clones for DSN1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for DSN1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b
SP1: - -
SP2: - -
SP3: -
SP4: - -
SP5: - - -
SP6: - - -
SP7: - - - -
SP8:
SP9: - - -

Relevant External Links for DSN1 Gene

GeneLoc Exon Structure for
DSN1
ECgene alternative splicing isoforms for
DSN1

Expression for DSN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DSN1 Gene

Protein differential expression in normal tissues from HIPED for DSN1 Gene

This gene is overexpressed in Breast (18.3), Peripheral blood mononuclear cells (15.0), and Retina (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DSN1 Gene



Protein tissue co-expression partners for DSN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DSN1 Gene:

DSN1

SOURCE GeneReport for Unigene cluster for DSN1 Gene:

Hs.632268

Evidence on tissue expression from TISSUES for DSN1 Gene

  • Skin(4.2)
genes like me logo Genes that share expression patterns with DSN1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DSN1 Gene

Orthologs for DSN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DSN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DSN1 33 34
  • 96.94 (n)
dog
(Canis familiaris)
Mammalia DSN1 33 34
  • 86.82 (n)
cow
(Bos Taurus)
Mammalia DSN1 33 34
  • 85.09 (n)
rat
(Rattus norvegicus)
Mammalia Dsn1 33
  • 80.29 (n)
mouse
(Mus musculus)
Mammalia Dsn1 33 16 34
  • 79.81 (n)
oppossum
(Monodelphis domestica)
Mammalia DSN1 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves DSN1 34 33
  • 58.83 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DSN1 34
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487901 33
  • 51.2 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100002916 33
  • 44.16 (n)
DSN1 34
  • 24 (a)
OneToOne
Species where no ortholog for DSN1 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 DSN1 Gene

ENSEMBL:
Gene Tree for DSN1 (if available)
TreeFam:
Gene Tree for DSN1 (if available)

Paralogs for DSN1 Gene

Pseudogenes.org Pseudogenes for DSN1 Gene

genes like me logo Genes that share paralogs with DSN1: view

No data available for Paralogs for DSN1 Gene

Variants for DSN1 Gene

Sequence variations from dbSNP and Humsavar for DSN1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000191120 -- 36,763,905(+) AAAAA(-/AG)AAAAA intron-variant
rs1000251492 -- 36,762,224(+) GCCTC(A/C)GCCTC intron-variant
rs1000312909 -- 36,768,630(+) CCTTG(G/T)CCTTC intron-variant
rs1000363646 -- 36,760,946(+) TTCCT(A/G)TCTAG intron-variant
rs1000376783 -- 36,769,003(+) TTAAA(C/T)CTTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DSN1 Gene

Variant ID Type Subtype PubMed ID
nsv1057192 CNV loss 25217958

Variation tolerance for DSN1 Gene

Residual Variation Intolerance Score: 37.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.89; 35.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DSN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DSN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DSN1 Gene

Disorders for DSN1 Gene

Relevant External Links for DSN1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DSN1

No disorders were found for DSN1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DSN1 Gene

Publications for DSN1 Gene

  1. The human Mis12 complex is required for kinetochore assembly and proper chromosome segregation. (PMID: 16585270) Kline SL … Desai A (The Journal of cell biology 2006) 2 3 4 60
  2. The MIS12 complex is a protein interaction hub for outer kinetochore assembly. (PMID: 20819937) Petrovic A … Musacchio A (The Journal of cell biology 2010) 2 3 60
  3. Human Blinkin/AF15q14 is required for chromosome alignment and the mitotic checkpoint through direct interaction with Bub1 and BubR1. (PMID: 17981135) Kiyomitsu T … Yanagida M (Developmental cell 2007) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for DSN1 Gene

  • Addgene plasmids for DSN1

Sources for DSN1 Gene

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