Human Gene DSN1 (ENST00000373750.9_11) from GENCODE V47lift37

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Description: DSN1 component of MIS12 kinetochore complex, transcript variant 2 (from RefSeq NM_001145315.2)
Gencode Transcript: ENST00000373750.9_11
Gencode Gene: ENSG00000149636.16_16
Transcript (Including UTRs)
Position: hg19 chr20:35,380,198-35,402,166 Size: 21,969 Total Exon Count: 11 Strand: -
Coding Region
Position: hg19 chr20:35,381,191-35,399,861 Size: 18,671 Coding Exon Count: 10

Page Index	Sequence and Links	UniProtKB Comments	Primers	CTD	Gene Alleles
RNA-Seq Expression	Microarray Expression	RNA Structure	Protein Structure	Other Species	GO Annotations
mRNA Descriptions	Pathways	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr20:35,380,198-35,402,166)			mRNA (may differ from genome)		Protein (356 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	MGI	OMIM	PubMed	Reactome	UniProtKB
Wikipedia	BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: DSN1_HUMAN DESCRIPTION: RecName: Full=Kinetochore-associated protein DSN1 homolog; FUNCTION: Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis. SUBUNIT: Component of the MIS12 complex composed of MIS12, DSN1, NSL1 and PMF1. Also interacts with CASC5, CBX3 and CBX5. SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere, kinetochore. Note=Associated with the kinetochore. SEQUENCE CAUTION: Sequence=BAB14564.1; Type=Frameshift; Positions=277;

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 D016572 Cyclosporine D013749 Tetrachlorodibenzodioxin C029497 2,3-bis(3'-hydroxybenzyl)butyrolactone D000082 Acetaminophen D002945 Cisplatin D019327 Copper Sulfate D003375 Coumestrol C015001 arsenite C488369 dasatinib C069837 fullerene C60 more ... click here to view the complete list

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 21.63 RPKM in Testis Total median expression: 213.17 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

Microarray Expression Data


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mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-41.50	117	-0.355	Picture	PostScript	Text
3' UTR	-269.60	993	-0.272	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
IPR013218 - Mtw1_DSN1

Pfam Domains:
PF08202 - Mis12-Mtw1 protein family

ModBase Predicted Comparative 3D Structure on Q9H410


Front	Top	Side

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.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details
Gene Sorter	Gene Sorter
	RGD	Ensembl

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0005515 protein binding Biological Process: GO:0000070 mitotic sister chromatid segregation GO:0007049 cell cycle GO:0007059 chromosome segregation GO:0043312 neutrophil degranulation GO:0051301 cell division GO:0051456 attachment of spindle microtubules to kinetochore involved in meiotic sister chromatid segregation Cellular Component: GO:0000444 MIS12/MIND type complex GO:0000775 chromosome, centromeric region GO:0000776 kinetochore GO:0000777 condensed chromosome kinetochore GO:0000818 nuclear MIS12/MIND complex GO:0000922 spindle pole GO:0000941 condensed nuclear chromosome inner kinetochore GO:0001650 fibrillar center GO:0005576 extracellular region GO:0005634 nucleus GO:0005694 chromosome GO:0005730 nucleolus GO:0005829 cytosol GO:0016604 nuclear body GO:0035578 azurophil granule lumen

Descriptions from all associated GenBank mRNAs


	BC026011 - Homo sapiens DSN1, MIND kinetochore complex component, homolog (S. cerevisiae), mRNA (cDNA clone MGC:32987 IMAGE:4827570), complete cds. AK093031 - Homo sapiens cDNA FLJ35712 fis, clone TESOP1000160. AX747868 - Sequence 1393 from Patent EP1308459. AK023408 - Homo sapiens cDNA FLJ13346 fis, clone OVARC1002107. BC035821 - Homo sapiens DSN1, MIND kinetochore complex component, homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:5553020), with apparent retained intron. BC058899 - Homo sapiens DSN1, MIND kinetochore complex component, homolog (S. cerevisiae), mRNA (cDNA clone MGC:64948 IMAGE:6063417), complete cds. AK301840 - Homo sapiens cDNA FLJ59094 complete cds. AK290738 - Homo sapiens cDNA FLJ77685 complete cds. AK301671 - Homo sapiens cDNA FLJ59091 complete cds. HQ448110 - Synthetic construct Homo sapiens clone IMAGE:100071490; CCSB012013_01 DSN1, MIND kinetochore complex component, homolog (S. cerevisiae) (DSN1) gene, encodes complete protein. KJ894764 - Synthetic construct Homo sapiens clone ccsbBroadEn_04158 DSN1 gene, encodes complete protein. CU691326 - Synthetic construct Homo sapiens gateway clone IMAGE:100021697 5' read DSN1 mRNA. JD534727 - Sequence 515751 from Patent EP1572962. JD155777 - Sequence 136801 from Patent EP1572962. JD105400 - Sequence 86424 from Patent EP1572962. JD517259 - Sequence 498283 from Patent EP1572962. JD287835 - Sequence 268859 from Patent EP1572962. JD554140 - Sequence 535164 from Patent EP1572962. JD461275 - Sequence 442299 from Patent EP1572962. JD366208 - Sequence 347232 from Patent EP1572962. JD452606 - Sequence 433630 from Patent EP1572962. JD537883 - Sequence 518907 from Patent EP1572962. JD504056 - Sequence 485080 from Patent EP1572962. JD411026 - Sequence 392050 from Patent EP1572962. JD181415 - Sequence 162439 from Patent EP1572962. JD445146 - Sequence 426170 from Patent EP1572962. JD207981 - Sequence 189005 from Patent EP1572962. JD178834 - Sequence 159858 from Patent EP1572962. JD266535 - Sequence 247559 from Patent EP1572962. JD266536 - Sequence 247560 from Patent EP1572962. JD498301 - Sequence 479325 from Patent EP1572962. JD498300 - Sequence 479324 from Patent EP1572962. JD344108 - Sequence 325132 from Patent EP1572962. JD472639 - Sequence 453663 from Patent EP1572962. JD170456 - Sequence 151480 from Patent EP1572962. JD211767 - Sequence 192791 from Patent EP1572962. JD194943 - Sequence 175967 from Patent EP1572962. JD537434 - Sequence 518458 from Patent EP1572962. JD545189 - Sequence 526213 from Patent EP1572962. JD223807 - Sequence 204831 from Patent EP1572962. JD545190 - Sequence 526214 from Patent EP1572962. JD504215 - Sequence 485239 from Patent EP1572962. JD530119 - Sequence 511143 from Patent EP1572962. JD557629 - Sequence 538653 from Patent EP1572962. JD558707 - Sequence 539731 from Patent EP1572962. JD559695 - Sequence 540719 from Patent EP1572962. JD273627 - Sequence 254651 from Patent EP1572962. JD533329 - Sequence 514353 from Patent EP1572962. JD076601 - Sequence 57625 from Patent EP1572962. JD221488 - Sequence 202512 from Patent EP1572962. JD379070 - Sequence 360094 from Patent EP1572962. JD047875 - Sequence 28899 from Patent EP1572962. JD247020 - Sequence 228044 from Patent EP1572962. JD413447 - Sequence 394471 from Patent EP1572962. JD198142 - Sequence 179166 from Patent EP1572962. JD212747 - Sequence 193771 from Patent EP1572962. JD542768 - Sequence 523792 from Patent EP1572962. JD198141 - Sequence 179165 from Patent EP1572962. JD212746 - Sequence 193770 from Patent EP1572962. JD542767 - Sequence 523791 from Patent EP1572962. JD450570 - Sequence 431594 from Patent EP1572962. JD139693 - Sequence 120717 from Patent EP1572962. JD425748 - Sequence 406772 from Patent EP1572962. JD044061 - Sequence 25085 from Patent EP1572962. JD479188 - Sequence 460212 from Patent EP1572962. JD120104 - Sequence 101128 from Patent EP1572962. JD528633 - Sequence 509657 from Patent EP1572962. JD456434 - Sequence 437458 from Patent EP1572962. JD079031 - Sequence 60055 from Patent EP1572962. JD440497 - Sequence 421521 from Patent EP1572962.

Biochemical and Signaling Pathways


	Reactome (by CSHL, EBI, and GO) Protein Q9H410 (Reactome details) participates in the following event(s): R-HSA-6798751 Exocytosis of azurophil granule lumen proteins 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-6798695 Neutrophil degranulation R-HSA-168249 Innate Immune System 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-168256 Immune System 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: B4DWT2, C20orf172, DSN1_HUMAN, E1P5U9, ENST00000373750.1, ENST00000373750.2, ENST00000373750.3, ENST00000373750.4, ENST00000373750.5, ENST00000373750.6, ENST00000373750.7, ENST00000373750.8, MIS13, NM_001145315, Q5JW55, Q5JW56, Q9H410, Q9H8P4, uc318lan.1, uc318lan.2 UCSC ID: ENST00000373750.9_11 RefSeq Accession: NM_001145315.2 Protein: Q9H410 (aka DSN1_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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