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DSN1 DSN1 component of MIS12 kinetochore complex [ Homo sapiens (human) ]

Gene ID: 79980, updated on 11-Apr-2024

Summary

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Official Symbol
DSN1provided by HGNC
Official Full Name
DSN1 component of MIS12 kinetochore complexprovided by HGNC
Primary source
HGNC:HGNC:16165
See related
Ensembl:ENSG00000149636 MIM:609175; AllianceGenome:HGNC:16165
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KNL3; MIS13; hKNL-3; C20orf172; dJ469A13.2
Summary
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]
Expression
Broad expression in testis (RPKM 11.7), lymph node (RPKM 6.7) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
20q11.23
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (36751795..36773763, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (38476075..38498047, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (35380198..35402166, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17814 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35261429-35261930 Neighboring gene Src like adaptor 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:35271232-35271902 Neighboring gene NDRG family member 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:35305009-35305810 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:35324917-35325417 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35373956-35374922 Neighboring gene MPRA-validated peak4204 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35393973-35394472 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:35399249-35399414 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:35401925-35402470 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35402471-35403017 Neighboring gene uncharacterized LOC124904894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35410629-35411130 Neighboring gene microtubule crosslinking factor 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17821 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12879 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17824 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:35478413-35478912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35483021-35483521 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35484024-35484524 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35485529-35486030 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:35486031-35486531 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12881

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. DSN1 is a prognostic biomarker and correlated with clinical characterize in breast cancer. Peng Q, et al. Int Immunopharmacol, 2021 Dec. PMID 34238686
  2. Molecular architecture of the kinetochore-microtubule interface. Cheeseman IM, et al. Nat Rev Mol Cell Biol, 2008 Jan. PMID 18097444
  3. SRSF9 promotes colorectal cancer progression via stabilizing DSN1 mRNA in an m6A-related manner. Wang X, et al. J Transl Med, 2022 May 4. PMID 35509101, Free PMC Article
  4. Elevated DSN1 expression is associated with poor survival in patients with hepatocellular carcinoma. Sun C, et al. Hum Pathol, 2018 Nov. PMID 30136646
  5. The MIS12 complex is a protein interaction hub for outer kinetochore assembly. Petrovic A, et al. J Cell Biol, 2010 Sep 6. PMID 20819937, Free PMC Article

See all (52) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SRSF9 promotes colorectal cancer progression via stabilizing DSN1 mRNA in an m6A-related manner.
    Title: SRSF9 promotes colorectal cancer progression via stabilizing DSN1 mRNA in an m6A-related manner.
  2. DSN1 is a prognostic biomarker and correlated with clinical characterize in breast cancer.
    Title: DSN1 is a prognostic biomarker and correlated with clinical characterize in breast cancer.
  3. Identification of CDCA8, DSN1 and BIRC5 in Regulating Cell Cycle and Apoptosis in Osteosarcoma Using Bioinformatics and Cell Biology.
    Title: Identification of CDCA8, DSN1 and BIRC5 in Regulating Cell Cycle and Apoptosis in Osteosarcoma Using Bioinformatics and Cell Biology.
  4. DSN1 is overexpressed in hepatocellular carcinoma tissues and strongly associated with poor prognosis.
    Title: Elevated DSN1 expression is associated with poor survival in patients with hepatocellular carcinoma.
  5. this report provides clear evidence that overexpression of the AURKA, SKA3, and DSN1 genes strongly correlates with the progression of colorectal adenomas to colorectal cancer
    Title: Over-expression of AURKA, SKA3 and DSN1 contributes to colorectal adenoma to carcinoma progression.
  6. HsMis13 phosphorylation by Aurora B is required for organizing a stable bi-oriented microtubule kinetochore attachment that is essential for faithful chromosome segregation in mitosis.
    Title: Phosphorylation of HsMis13 by Aurora B kinase is essential for assembly of functional kinetochore.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ13346, MGC32987

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in attachment of spindle microtubules to kinetochore NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in cell division IEA
Inferred from Electronic Annotation
more info
  
involved_in skeletal muscle satellite cell proliferation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of MIS12/MIND type complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of MIS12/MIND type complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of MIS12/MIND type complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in azurophil granule lumen TAS
Traceable Author Statement
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in fibrillar center IDA
Inferred from Direct Assay
more info
  
located_in kinetochore IDA
Inferred from Direct Assay
more info
 PubMed 
located_in kinetochore NAS
Non-traceable Author Statement
more info
 PubMed 
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 
located_in spindle pole NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
kinetochore-associated protein DSN1 homolog
Names
DSN1 homolog, MIS12 kinetochore complex component
DSN1, MIND kinetochore complex component, homolog
DSN1, MIS12 kinetochore complex component
kinetochore null 3 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001145315.2 → NP_001138787.1  kinetochore-associated protein DSN1 homolog isoform 1

    See identical proteins and their annotated locations for NP_001138787.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (1).
    Source sequence(s)
    AL132768, BC058899
    Consensus CDS
    CCDS13286.1
    UniProtKB/Swiss-Prot
    B4DWT2, E1P5U9, Q5JW55, Q5JW56, Q9H410, Q9H8P4
    UniProtKB/TrEMBL
    A8K3X3
    Related
    ENSP00000362855.4, ENST00000373750.9
    Conserved Domains (1) summary
    pfam08202
    Location:78 → 346
    MIS13; Mis12-Mtw1 protein family

  2. NM_001145316.2 → NP_001138788.1  kinetochore-associated protein DSN1 homolog isoform 1

    See identical proteins and their annotated locations for NP_001138788.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK290738, AL132768, BC058899
    Consensus CDS
    CCDS13286.1
    UniProtKB/Swiss-Prot
    B4DWT2, E1P5U9, Q5JW55, Q5JW56, Q9H410, Q9H8P4
    UniProtKB/TrEMBL
    A8K3X3
    Related
    ENSP00000389810.1, ENST00000426836.5
    Conserved Domains (1) summary
    pfam08202
    Location:78 → 346
    MIS13; Mis12-Mtw1 protein family

  3. NM_001145317.2 → NP_001138789.1  kinetochore-associated protein DSN1 homolog isoform 2

    See identical proteins and their annotated locations for NP_001138789.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks an in-frame exon in the coding region, compared to variant 1. The resulting isoform (2) is shorter compared to isoform 1.
    Source sequence(s)
    AK301840, AL132768
    Consensus CDS
    CCDS46596.1
    UniProtKB/TrEMBL
    Q5JW54
    Related
    ENSP00000362839.4, ENST00000373734.8
    Conserved Domains (1) summary
    pfam08202
    Location:12 → 238
    MIS13; Mis12-Mtw1 protein family

  4. NM_001145318.2 → NP_001138790.1  kinetochore-associated protein DSN1 homolog isoform 3

    See identical proteins and their annotated locations for NP_001138790.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate exon in the 5' UTR, lacks an exon in the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK301671, AL132768
    Consensus CDS
    CCDS46597.1
    UniProtKB/TrEMBL
    Q4G1A1
    Related
    ENSP00000404463.1, ENST00000448110.6
    Conserved Domains (1) summary
    pfam08202
    Location:62 → 329
    MIS13; Mis12-Mtw1 protein family

  5. NM_024918.4 → NP_079194.3  kinetochore-associated protein DSN1 homolog isoform 1

    See identical proteins and their annotated locations for NP_079194.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (1).
    Source sequence(s)
    AA534892, AK093031, AL132768
    Consensus CDS
    CCDS13286.1
    UniProtKB/Swiss-Prot
    B4DWT2, E1P5U9, Q5JW55, Q5JW56, Q9H410, Q9H8P4
    UniProtKB/TrEMBL
    A8K3X3
    Conserved Domains (1) summary
    pfam08202
    Location:78 → 346
    MIS13; Mis12-Mtw1 protein family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    36751795..36773763 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047440501.1 → XP_047296457.1  kinetochore-associated protein DSN1 homolog isoform X2

  2. XM_017028070.2 → XP_016883559.1  kinetochore-associated protein DSN1 homolog isoform X1

    UniProtKB/TrEMBL
    A8K3X3

  3. XM_006723876.3 → XP_006723939.1  kinetochore-associated protein DSN1 homolog isoform X4

    See identical proteins and their annotated locations for XP_006723939.1

    UniProtKB/TrEMBL
    Q5JW54
    Conserved Domains (1) summary
    pfam08202
    Location:12 → 238
    MIS13; Mis12-Mtw1 protein family

  4. XM_047440502.1 → XP_047296458.1  kinetochore-associated protein DSN1 homolog isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    38476075..38498047 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054324036.1 → XP_054180011.1  kinetochore-associated protein DSN1 homolog isoform X2

  2. XM_054324035.1 → XP_054180010.1  kinetochore-associated protein DSN1 homolog isoform X1

  3. XM_054324038.1 → XP_054180013.1  kinetochore-associated protein DSN1 homolog isoform X4

  4. XM_054324037.1 → XP_054180012.1  kinetochore-associated protein DSN1 homolog isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H410.2 GenPept UniProtKB/Swiss-Prot:Q9H410

Gene LinkOut

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