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

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; 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

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_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Z94407 (e-PCR)
- UniSTS:54602

AL031191 (e-PCR)
- UniSTS:52390

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)

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
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
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
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
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

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

36751795..36773763 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q5JW54
XM_017028070.2 → XP_016883559.1 kinetochore-associated protein DSN1 homolog isoform X1

UniProtKB/TrEMBL

A8K3X3
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
XM_047440502.1 → XP_047296458.1 kinetochore-associated protein DSN1 homolog isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

38476075..38498047 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q5JW54
XM_054324035.1 → XP_054180010.1 kinetochore-associated protein DSN1 homolog isoform X1

UniProtKB/TrEMBL

A8K3X3
XM_054324038.1 → XP_054180013.1 kinetochore-associated protein DSN1 homolog isoform X4

UniProtKB/TrEMBL

Q5JW54
XM_054324037.1 → XP_054180012.1 kinetochore-associated protein DSN1 homolog isoform X3