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

    Gene ID: 79980, updated on 27-Nov-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
    mouse all
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    Genomic context

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    See DSN1 in Genome Data Viewer
    Location:
    20q11.23
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (36751795..36773763, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (38476075..38498047, complement)
    RS_2024_09 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. Phosphorylation of HsMis13 by Aurora B kinase is essential for assembly of functional kinetochore. Yang Y, et al. J Biol Chem, 2008 Sep 26. PMID 18640974, Free PMC Article

    See all (60) 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 Variation Viewer (GRCh37.p13)

    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 
    part_of outer kinetochore IDA
    Inferred from Direct Assay
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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