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Aliases for NSL1 Gene

Aliases for NSL1 Gene

  • NSL1, MIS12 Kinetochore Complex Component 2 3 5
  • C1orf48 3 4
  • NSL1, MIND Kinetochore Complex Component, Homolog (S. Cerevisiae) 2
  • NSL1, MIND Kinetochore Complex Component, Homolog 3
  • Kinetochore-Associated Protein NSL1 Homolog 3
  • Chromosome 1 Open Reading Frame 48 2
  • MIS14 3
  • DC8 3

External Ids for NSL1 Gene

Previous HGNC Symbols for NSL1 Gene

  • C1orf48

Previous GeneCards Identifiers for NSL1 Gene

  • GC01M210967
  • GC01M212899
  • GC01M183576

Summaries for NSL1 Gene

Entrez Gene Summary for NSL1 Gene

  • 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]

GeneCards Summary for NSL1 Gene

NSL1 (NSL1, MIS12 Kinetochore Complex Component) is a Protein Coding gene. Diseases associated with NSL1 include Malaria. Among its related pathways are Cell Cycle, Mitotic and Signaling by Rho GTPases.

UniProtKB/Swiss-Prot for NSL1 Gene

  • Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis.

Gene Wiki entry for NSL1 Gene

Additional gene information for NSL1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NSL1 Gene

Genomics for NSL1 Gene

GeneHancer (GH) Regulatory Elements for NSL1 Gene

Promoters and enhancers for NSL1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J212789 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 650.7 +0.2 200 4.4 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 TATDN3 BATF3 NSL1 FLVCR1 FLVCR1-DT ANGEL2 RPL21P28 LOC105372907 ENSG00000225233 LOC105372912
GH01J212924 Enhancer 0.8 Ensembl ENCODE 5.8 -133.5 -133499 1.5 MTA2 ZNF335 ARHGAP35 PRDM6 MTA1 ZNF366 ZNF184 IKZF1 GLIS1 ZNF512 FLVCR1-DT BATF3 NSL1 ANGEL2 ENSG00000282718 VASH2
GH01J212832 Enhancer 0.7 ENCODE 5.1 -41.9 -41916 2.2 PKNOX1 RB1 BATF EED ATF7 ETV6 IKZF2 RUNX3 MAFK HLF FLVCR1-DT FLVCR1 RPS28P2 TATDN3 VASH2 SPATA45 NSL1 GC01P212844 GC01P212825 GC01M212767
GH01J211984 Enhancer 0.7 ENCODE 5 +806.0 805993 1.6 HDGF PKNOX1 USF1 IRF3 EBF1 YBX1 BATF IRF4 ZNF207 ATF7 ENSG00000212187 LOC102723727 NSL1 GC01P212026 ENSG00000233626 INTS7
GH01J212782 Enhancer 0.8 Ensembl ENCODE 0.4 +8.9 8917 0.6 CTCF ZNF654 ZNF362 JUN TRIM22 REST ATF2 RAD21 CC2D1A SMC3 FLVCR1-DT TATDN3 BATF3 NSL1 PIR52879 GC01M212767
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NSL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NSL1 gene promoter:
  • Cart-1
  • POU2F1a
  • POU2F1
  • AML1a
  • XBP-1
  • FOXO4
  • Sox5
  • Nkx3-1 v4

Genomic Locations for NSL1 Gene

Genomic Locations for NSL1 Gene
65,645 bases
Minus strand
65,645 bases
Minus strand

Genomic View for NSL1 Gene

Genes around NSL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NSL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NSL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NSL1 Gene

Proteins for NSL1 Gene

  • Protein details for NSL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Kinetochore-associated protein NSL1 homolog
    Protein Accession:
    Secondary Accessions:
    • E7ETD5
    • Q5SY75
    • Q9H2M5
    • Q9NRN8
    • Q9Y415

    Protein attributes for NSL1 Gene

    281 amino acids
    Molecular mass:
    32162 Da
    Quaternary structure:
    • Component of the MIS12 complex composed of MIS12, DSN1, NSL1/DC8 and PMF1. Interacts with KNL1.
    • Sequence=AAF86877.1; Type=Frameshift; Positions=41; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NSL1 Gene

    Alternative splice isoforms for NSL1 Gene


neXtProt entry for NSL1 Gene

Post-translational modifications for NSL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NSL1 Gene

Domains & Families for NSL1 Gene

Gene Families for NSL1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NSL1 Gene

Suggested Antigen Peptide Sequences for NSL1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NSL1: view

No data available for UniProtKB/Swiss-Prot for NSL1 Gene

Function for NSL1 Gene

Molecular function for NSL1 Gene

UniProtKB/Swiss-Prot Function:
Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis.

Phenotypes From GWAS Catalog for NSL1 Gene

Gene Ontology (GO) - Molecular Function for NSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15502821
genes like me logo Genes that share ontologies with NSL1: view
genes like me logo Genes that share phenotypes with NSL1: view

Clone Products

  • Addgene plasmids for NSL1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NSL1 Gene

Localization for NSL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NSL1 Gene

Nucleus. Chromosome, centromere, kinetochore. Note=Associated with the kinetochore (PubMed:15502821, PubMed:16585270).

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NSL1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000444 MIS12/MIND type complex IDA 16585270
GO:0000775 chromosome, centromeric region IEA --
GO:0000776 kinetochore IEA --
GO:0000777 condensed chromosome kinetochore IDA 15371340
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with NSL1: view

Pathways & Interactions for NSL1 Gene

genes like me logo Genes that share pathways with NSL1: view

Pathways by source for NSL1 Gene

Gene Ontology (GO) - Biological Process for NSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000070 mitotic sister chromatid segregation IBA --
GO:0007049 cell cycle IEA --
GO:0007059 chromosome segregation IEA --
GO:0007062 sister chromatid cohesion TAS --
GO:0051301 cell division IEA --
genes like me logo Genes that share ontologies with NSL1: view

No data available for SIGNOR curated interactions for NSL1 Gene

Drugs & Compounds for NSL1 Gene

No Compound Related Data Available

Transcripts for NSL1 Gene

Unigene Clusters for NSL1 Gene

NSL1, MIND kinetochore complex component, homolog (S. cerevisiae):
Representative Sequences:

Clone Products

  • Addgene plasmids for NSL1

Alternative Splicing Database (ASD) splice patterns (SP) for NSL1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e
SP1: - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - - - -
SP6: - - - - - -
SP7: - -

Relevant External Links for NSL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NSL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NSL1 Gene

Protein differential expression in normal tissues from HIPED for NSL1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (31.2), Breast (16.0), and Blymphocyte (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NSL1 Gene

Protein tissue co-expression partners for NSL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of NSL1 Gene:


SOURCE GeneReport for Unigene cluster for NSL1 Gene:


Evidence on tissue expression from TISSUES for NSL1 Gene

  • Lymph node(4.5)
  • Spleen(4.5)
  • Blood(4.4)
  • Kidney(4.3)
  • Nervous system(3.9)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with NSL1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NSL1 Gene

Orthologs for NSL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NSL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia NSL1 34 33
  • 99.41 (n)
(Canis familiaris)
Mammalia NSL1 34 33
  • 87.5 (n)
(Bos Taurus)
Mammalia NSL1 34 33
  • 87.35 (n)
(Rattus norvegicus)
Mammalia Nsl1 33
  • 76.19 (n)
(Mus musculus)
Mammalia Nsl1 16 34 33
  • 75.36 (n)
(Monodelphis domestica)
Mammalia NSL1 34
  • 61 (a)
(Ornithorhynchus anatinus)
Mammalia NSL1 34
  • 61 (a)
(Gallus gallus)
Aves NSL1 33
  • 60.44 (n)
NSL1/DC31 34
  • 41 (a)
(Anolis carolinensis)
Reptilia NSL1 34
  • 36 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia nsl1 33
  • 54.15 (n)
(Danio rerio)
Actinopterygii nsl1 34 33
  • 48.58 (n)
Species where no ortholog for NSL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NSL1 Gene

Gene Tree for NSL1 (if available)
Gene Tree for NSL1 (if available)
Evolutionary constrained regions (ECRs) for NSL1: view image

Paralogs for NSL1 Gene

(1) SIMAP similar genes for NSL1 Gene using alignment to 4 proteins:

  • H7BY54_HUMAN
  • Q5SY74_HUMAN
  • Q5SY76_HUMAN
genes like me logo Genes that share paralogs with NSL1: view

No data available for Paralogs for NSL1 Gene

Variants for NSL1 Gene

Sequence variations from dbSNP and Humsavar for NSL1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000018291 -- 212,795,385(-) C/G genic_upstream_transcript_variant, intron_variant
rs1000022133 -- 212,752,324(-) T/C intron_variant
rs1000023862 -- 212,790,040(-) G/C intron_variant
rs1000029011 -- 212,785,415(-) T/C intron_variant
rs1000056461 -- 212,789,674(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NSL1 Gene

Variant ID Type Subtype PubMed ID
esv2758997 CNV loss 17122850
nsv1005983 CNV gain 25217958
nsv1010003 CNV gain 25217958
nsv159271 CNV deletion 16902084
nsv549148 CNV loss 21841781
nsv947467 CNV duplication 23825009

Variation tolerance for NSL1 Gene

Residual Variation Intolerance Score: 71.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.30; 70.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NSL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NSL1 Gene

Disorders for NSL1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NSL1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
  • malaria, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search NSL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NSL1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NSL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NSL1 Gene

Publications for NSL1 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  2. The MIS12 complex is a protein interaction hub for outer kinetochore assembly. (PMID: 20819937) Petrovic A … Musacchio A (The Journal of cell biology 2010) 2 3 58
  3. Human Blinkin/AF15q14 is required for chromosome alignment and the mitotic checkpoint through direct interaction with Bub1 and BubR1. (PMID: 17981135) Kiyomitsu T … Yanagida M (Developmental cell 2007) 3 4 58
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  5. The human Mis12 complex is required for kinetochore assembly and proper chromosome segregation. (PMID: 16585270) Kline SL … Desai A (The Journal of cell biology 2006) 3 4 58

Products for NSL1 Gene

Sources for NSL1 Gene

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