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    NSL1 NSL1 component of MIS12 kinetochore complex [ Homo sapiens (human) ]

    Gene ID: 25936, updated on 27-Nov-2024

    Summary

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    Official Symbol
    NSL1provided by HGNC
    Official Full Name
    NSL1 component of MIS12 kinetochore complexprovided by HGNC
    Primary source
    HGNC:HGNC:24548
    See related
    Ensembl:ENSG00000117697 MIM:609174; AllianceGenome:HGNC:24548
    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
    DC8; MIS14; C1orf48
    Summary
    This gene encodes a protein with two coiled-coil domains that localizes to kinetochores, which are chromosome-associated structures that attach to microtubules and mediate chromosome movements during cell division. The encoded protein is part of a conserved protein complex that includes two chromodomain-containing proteins and a component of the outer plate of the kinetochore. This protein complex is proposed to bridge centromeric heterochromatin with the outer kinetochore structure. Multiple transcript variants encoding different isoforms have been found for this gene. There is a pseudogene of the 3' UTR region of this gene on chromosome X. [provided by RefSeq, Jul 2014]
    Expression
    Ubiquitous expression in brain (RPKM 2.0), lymph node (RPKM 1.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NSL1 in Genome Data Viewer
    Location:
    1q32.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (212726153..212791777, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (211971114..212036744, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (212899495..212965119, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2773 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:212828983-212829800 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2512 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:212831435-212832251 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1802 Neighboring gene RFK pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1803 Neighboring gene Sharpr-MPRA regulatory region 1202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2515 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:212856142-212857341 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:212857741-212858264 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:212860079-212860578 Neighboring gene U6 spliceosomal RNA Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1804 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1805 Neighboring gene basic leucine zipper ATF-like transcription factor 3 Neighboring gene NANOG hESC enhancer GRCh37_chr1:212885887-212886440 Neighboring gene MPRA-validated peak687 silencer Neighboring gene MPRA-validated peak688 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:212932746-212933595 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:212933596-212934444 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:212963792-212964570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2517 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:212967459-212967959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2519 Neighboring gene TatD DNase domain containing 3 Neighboring gene RPS5 pseudogene 4

    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. CENP-T provides a structural platform for outer kinetochore assembly. Nishino T, et al. EMBO J, 2013 Feb 6. PMID 23334297, Free PMC Article
    2. Hsp90-Sgt1 and Skp1 target human Mis12 complexes to ensure efficient formation of kinetochore-microtubule binding sites. Davies AE, et al. J Cell Biol, 2010 Apr 19. PMID 20404110, Free PMC Article
    3. Structure of the MIS12 Complex and Molecular Basis of Its Interaction with CENP-C at Human Kinetochores. Petrovic A, et al. Cell, 2016 Nov 3. PMID 27881301, Free PMC Article
    4. Human Blinkin/AF15q14 is required for chromosome alignment and the mitotic checkpoint through direct interaction with Bub1 and BubR1. Kiyomitsu T, et al. Dev Cell, 2007 Nov. PMID 17981135
    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 (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. The hMis14, which contains a tripartite-binding domain for HP1 and two other kinetochore proteins, hMis13 and blinkin, is a cornerstone for the assembly of the inner centromere and kinetochore.
      Title: Inner centromere formation requires hMis14, a trident kinetochore protein that specifically recruits HP1 to human chromosomes.
    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

    Homology

    Clone Names

    • DKFZp566O1646

    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 mitotic sister chromatid segregation 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 cytosol TAS
    Traceable Author Statement
    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 speck 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 NSL1 homolog
    Names
    NSL1, MIND kinetochore complex component, homolog
    NSL1, MIS12 kinetochore complex component

    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_001042549.2 → NP_001036014.1  kinetochore-associated protein NSL1 homolog isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AA806390, AL591647, BU570983, DB045932
      Consensus CDS
      CCDS53474.1
      UniProtKB/Swiss-Prot
      Q96IY1
      Related
      ENSP00000486783.1, ENST00000626725.1
      Conserved Domains (1) summary
      pfam08641
      Location:82 → 166
      Mis14; Kinetochore protein Mis14 like

    2. NM_001297736.2 → NP_001284665.1  kinetochore-associated protein NSL1 homolog isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AA806390, AL591647, BE669670, DB045932
      UniProtKB/TrEMBL
      B4E071
      Conserved Domains (1) summary
      pfam08641
      Location:82 → 150
      Mis14; Kinetochore protein Mis14 like

    3. NM_001297737.2 → NP_001284666.1  kinetochore-associated protein NSL1 homolog isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon, which results in a frameshift, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AA806390, AL591647, CK003923, DB045932
      Consensus CDS
      CCDS73025.1
      UniProtKB/TrEMBL
      Q5SY74
      Related
      ENSP00000355943.1, ENST00000366976.3
      Conserved Domains (1) summary
      pfam08641
      Location:82 → 166
      Mis14; Kinetochore protein Mis14 like

    4. NM_001297739.2 → NP_001284668.1  kinetochore-associated protein NSL1 homolog isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks a large segment of the 3' coding region and 3' UTR, which results in a frameshift, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AA806390, AI703127, AL591647, DB045932
      Conserved Domains (1) summary
      pfam08641
      Location:82 → 170
      Mis14; Kinetochore protein Mis14 like

    5. NM_015471.4 → NP_056286.3  kinetochore-associated protein NSL1 homolog isoform 1

      See identical proteins and their annotated locations for NP_056286.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AA806390, AK223260, AL591647
      Consensus CDS
      CCDS1509.1
      UniProtKB/Swiss-Prot
      E7ETD5, Q5SY75, Q96IY1, Q9H2M5, Q9NRN8, Q9Y415
      UniProtKB/TrEMBL
      B2R9C5, D3DTA2, Q53FM2
      Related
      ENSP00000355944.3, ENST00000366977.8
      Conserved Domains (1) summary
      pfam08641
      Location:82 → 196
      Mis14; Kinetochore protein Mis14 like

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      212726153..212791777 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      211971114..212036744 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96IY1.3 GenPept UniProtKB/Swiss-Prot:Q96IY1

    Gene LinkOut

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

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