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

Gene ID: 25936, updated on 17-Jun-2019

Summary

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
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

Genomic context

See NSL1 in Genome Data Viewer
Location:
1q32.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (212726153..212798900, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (212899495..212965139, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2773 Neighboring gene riboflavin kinase pseudogene Neighboring gene basic leucine zipper ATF-like transcription factor 3 Neighboring gene TatD DNase domain containing 3 Neighboring gene ribosomal protein S5 pseudogene 4 Neighboring gene spermatogenesis associated 45

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...
  • 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...
  • 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

  • DKFZp566O1646

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 
Component Evidence Code Pubs
MIS12/MIND type complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
MIS12/MIND type complex IDA
Inferred from Direct Assay
more info
PubMed 
condensed chromosome kinetochore IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
kinetochore-associated protein NSL1 homolog
Names
NSL1, MIND kinetochore complex component, homolog
NSL1, MIS12 kinetochore complex component

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_001042549.2NP_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:82166
    Mis14; Kinetochore protein Mis14 like
  2. NM_001297736.2NP_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
    Conserved Domains (1) summary
    pfam08641
    Location:82150
    Mis14; Kinetochore protein Mis14 like
  3. NM_001297737.2NP_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:82166
    Mis14; Kinetochore protein Mis14 like
  4. NM_001297739.2NP_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:82170
    Mis14; Kinetochore protein Mis14 like
  5. NM_015471.4NP_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
    Q96IY1
    UniProtKB/TrEMBL
    Q53FM2
    Related
    ENSP00000355944.3, ENST00000366977.8
    Conserved Domains (1) summary
    pfam08641
    Location:82196
    Mis14; Kinetochore protein Mis14 like

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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    212726153..212798900 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000968.1XP_016856457.1  kinetochore-associated protein NSL1 homolog isoform X1

  2. XM_017000969.1XP_016856458.1  kinetochore-associated protein NSL1 homolog isoform X1

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