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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. Among its related pathways are Mitotic Metaphase and Anaphase and Cell Cycle, Mitotic.

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

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

Genomics for NSL1 Gene

Regulatory Elements for NSL1 Gene

Enhancers for NSL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F212924 0.9 Ensembl ENCODE 5.8 -133.5 -133499 1.5 ZNF263 MTA2 BHLHE40 ZNF366 ZNF512 GLIS1 FOS ETV6 PRDM1 EMSY FLVCR1-AS1 BATF3 NSL1 ANGEL2 ENSG00000282718 VASH2
GH01F211984 0.9 ENCODE 5 +806.0 805993 1.6 HDGF TBP PKNOX1 YBX1 RAD21 YY1 RARA ZNF766 CBX5 ZNF207 ENSG00000212187 LOC102723727 NSL1 GC01P212026 ENSG00000233626
GH01F212832 0.7 ENCODE 5.1 -41.9 -41916 2.2 PKNOX1 MTA2 HLF JUNB TBX21 RAD51 IKZF1 TCF7 SMAD4 ETV6 FLVCR1-AS1 FLVCR1 RPS28P2 TATDN3 VASH2 SPATA45 NSL1 GC01P212825 GC01P212844
GH01F212789 1.2 ENCODE 0.8 +0.2 201 4.4 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 FLVCR1 FLVCR1-AS1 TATDN3 RPL21P28 LOC105372907 ENSG00000225233 LOC105372912 ANGEL2 RPS28P2 ENSG00000235182
GH01F212774 1.1 Ensembl ENCODE 0.3 +16.9 16897 0.6 HDAC1 ATF1 GTF2E2 BACH1 ZNF7 ZNF316 NCOR1 TRIM24 NFE2 MAFK FLVCR1-AS1 TATDN3 NSL1 PIR52879
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NSL1 on UCSC Golden Path with GeneCards custom track

Promoters for NSL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000552559 -3 2401 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3

Genomic Location for NSL1 Gene

Chromosome:
1
Start:
212,726,153 bp from pter
End:
212,791,797 bp from pter
Size:
65,645 bases
Orientation:
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:
    Q96IY1-NSL1_HUMAN
    Recommended name:
    Kinetochore-associated protein NSL1 homolog
    Protein Accession:
    Q96IY1
    Secondary Accessions:
    • E7ETD5
    • Q5SY75
    • Q9H2M5
    • Q9NRN8
    • Q9Y415

    Protein attributes for NSL1 Gene

    Size:
    281 amino acids
    Molecular mass:
    32162 Da
    Quaternary structure:
    • Component of the MIS12 complex composed of MIS12, DSN1, NSL1/DC8 and PMF1. Interacts with CASC5.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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

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.

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

Animal Model Products

miRNA for NSL1 Gene

miRTarBase miRNAs that target NSL1

Inhibitory RNA Products

Flow Cytometry Products

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

COMPARTMENTS
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

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 IEA --
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:0007067 mitotic nuclear division IEA --
genes like me logo Genes that share ontologies with NSL1: view

No data available for SIGNOR curated interactions for NSL1 Gene

Transcripts for NSL1 Gene

Unigene Clusters for NSL1 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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: - -
SP8:

Relevant External Links for NSL1 Gene

GeneLoc Exon Structure for
NSL1
ECgene alternative splicing isoforms for
NSL1

Expression for NSL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, PaxDb, MaxQB, and MOPED for NSL1 Gene



Protein tissue co-expression partners for NSL1 Gene

NURSA nuclear receptor signaling pathways regulating expression of NSL1 Gene:

NSL1

SOURCE GeneReport for Unigene cluster for NSL1 Gene:

Hs.497692
genes like me logo Genes that share expression patterns with NSL1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia NSL1 34 35
  • 99.41 (n)
dog
(Canis familiaris)
Mammalia NSL1 34 35
  • 87.5 (n)
cow
(Bos Taurus)
Mammalia NSL1 34 35
  • 87.35 (n)
rat
(Rattus norvegicus)
Mammalia Nsl1 34
  • 76.19 (n)
mouse
(Mus musculus)
Mammalia Nsl1 34 16 35
  • 75.36 (n)
oppossum
(Monodelphis domestica)
Mammalia NSL1 35
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NSL1 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves NSL1 34
  • 60.44 (n)
NSL1/DC31 35
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NSL1 35
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsl1 34
  • 54.15 (n)
zebrafish
(Danio rerio)
Actinopterygii nsl1 34 35
  • 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

ENSEMBL:
Gene Tree for NSL1 (if available)
TreeFam:
Gene Tree for NSL1 (if available)

Paralogs for NSL1 Gene

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

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 Sequence Context AA Info Type
rs1007036 -- 212,778,022(+) CAATA(A/G)CAAAA intron-variant
rs10127512 -- 212,768,236(+) aatgg(C/T)gtgca intron-variant
rs10127613 -- 212,770,501(+) aaaaa(A/C)cagaa intron-variant
rs10127703 -- 212,770,756(+) ctaca(A/G)gccaa intron-variant
rs10127756 -- 212,770,529(+) aacac(A/G)taaca intron-variant

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

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

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)

Relevant External Links for NSL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NSL1

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

Disorders for NSL1 Gene

Relevant External Links for NSL1

Genetic Association Database (GAD)
NSL1
Human Genome Epidemiology (HuGE) Navigator
NSL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NSL1

No disorders were found for NSL1 Gene.

No data available for MalaCards , 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 J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  2. The MIS12 complex is a protein interaction hub for outer kinetochore assembly. (PMID: 20819937) Petrovic A. … Musacchio A. (J. Cell Biol. 2010) 2 3 64
  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. (Dev. Cell 2007) 3 4 64
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  5. The human Mis12 complex is required for kinetochore assembly and proper chromosome segregation. (PMID: 16585270) Kline S.L. … Desai A. (J. Cell Biol. 2006) 3 4 64

Products for NSL1 Gene

Sources for NSL1 Gene

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