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

Gene ID: 79980, updated on 17-Jun-2019

Summary

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
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

Genomic context

See DSN1 in Genome Data Viewer
Location:
20q11.23
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (36751791..36773815, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (35380194..35402578, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 2 Neighboring gene Src like adaptor 2 Neighboring gene NDRG family member 3 Neighboring gene suppressor of glucose, autophagy associated 1 Neighboring gene RNA, 7SL, cytoplasmic 156, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
  • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
  • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
    Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and th...
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
    RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
  • Resolution of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
    Resolution of Sister Chromatid Cohesion, organism-specific biosystemThe resolution of sister chromatids in mitotic prometaphase involves removal of cohesin complexes from chromosomal arms, with preservation of cohesion at centromeres (Losada et al. 1998, Hauf et al. ...
  • Separation of Sister Chromatids, organism-specific biosystem (from REACTOME)
    Separation of Sister Chromatids, organism-specific biosystemWhile sister chromatids resolve in prometaphase, separating along chromosomal arms, the cohesion of sister centromeres persists until anaphase. At the anaphase onset, the anaphase promoting complex/c...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13346, MGC32987

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell division IEA
Inferred from Electronic Annotation
more info
 
mitotic sister chromatid segregation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
MIS12/MIND type complex IDA
Inferred from Direct Assay
more info
PubMed 
azurophil granule lumen TAS
Traceable Author Statement
more info
 
condensed chromosome kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
condensed nuclear chromosome inner kinetochore IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
fibrillar center IDA
Inferred from Direct Assay
more info
 
nuclear MIS12/MIND complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
spindle pole IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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)

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_001145315.2NP_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
    Q9H410
    Related
    ENSP00000362855.4, ENST00000373750.8
    Conserved Domains (1) summary
    pfam08202
    Location:78346
    MIS13; Mis12-Mtw1 protein family
  2. NM_001145316.1NP_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
    Q9H410
    UniProtKB/TrEMBL
    A8K3X3
    Related
    ENSP00000389810.1, ENST00000426836.5
    Conserved Domains (1) summary
    pfam08202
    Location:78346
    MIS13; Mis12-Mtw1 protein family
  3. NM_001145317.2NP_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/Swiss-Prot
    Q9H410
    Related
    ENSP00000362839.4, ENST00000373734.8
    Conserved Domains (1) summary
    pfam08202
    Location:12238
    MIS13; Mis12-Mtw1 protein family
  4. NM_001145318.2NP_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/Swiss-Prot
    Q9H410
    Related
    ENSP00000404463.1, ENST00000448110.6
    Conserved Domains (1) summary
    pfam08202
    Location:62329
    MIS13; Mis12-Mtw1 protein family
  5. NM_024918.4NP_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
    Q9H410
    Conserved Domains (1) summary
    pfam08202
    Location:78346
    MIS13; Mis12-Mtw1 protein family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    36751791..36773815 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_017028072.1XP_016883561.1  kinetochore-associated protein DSN1 homolog isoform X3

  3. XM_017028071.1XP_016883560.1  kinetochore-associated protein DSN1 homolog isoform X1

  4. XM_006723876.2XP_006723939.1  kinetochore-associated protein DSN1 homolog isoform X2

    See identical proteins and their annotated locations for XP_006723939.1

    UniProtKB/Swiss-Prot
    Q9H410
    Conserved Domains (1) summary
    pfam08202
    Location:12238
    MIS13; Mis12-Mtw1 protein family
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