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. ... See more...

Aliases for NSL1 Gene

Aliases for NSL1 Gene

  • NSL1 Component Of MIS12 Kinetochore Complex 2 3 5
  • Kinetochore-Associated Protein NSL1 Homolog 3 4
  • NSL1, MIS12 Kinetochore Complex Component 2 3
  • C1orf48 3 4
  • NSL1, MIND Kinetochore Complex Component, Homolog (S. Cerevisiae) 2
  • NSL1, MIND Kinetochore Complex Component, 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 Component Of MIS12 Kinetochore Complex) is a Protein Coding gene. Diseases associated with NSL1 include Extraocular Retinoblastoma and Blue Toe Syndrome. Among its related pathways are Mitotic Metaphase and Anaphase and Signaling by GPCR.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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
Score
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 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.2 200 4.4 RXRA FOXK2 ZBTB40 ZNF217 EP300 ZSCAN5C SIN3A NRF1 MYC TCF12 TATDN3 BATF3 NSL1 NONHSAG004244.2 FLVCR1 FLVCR1-DT ANGEL2 ENSG00000235182 RPS28P2 VASH2
GH01J212924 Enhancer 0.8 Ensembl ENCODE 5.8 -133.3 -133337 1.9 BCLAF1 FOS PHB2 TRIM28 ZNF263 ZNF335 PRDM6 MCM7 GLIS1 BHLHE40 FLVCR1-DT BATF3 TATDN3 NSL1 ANGEL2 ENSG00000282718 lnc-ANGEL2-1
GH01J212832 Enhancer 0.9 Ensembl ENCODE 5.2 -41.9 -41916 2.2 MEF2B BATF ELF1 SMAD4 IKZF1 RB1 NFATC3 TBX21 JUNB ATF2 FLVCR1-DT FLVCR1 RPS28P2 TATDN3 VASH2 SPATA45 NSL1 lnc-TATDN3-2 piR-52324-004
GH01J212178 Enhancer 0.9 Ensembl ENCODE 4.7 +610.3 610296 7.8 JUND FOS ZNF10 ZIC2 RBM25 LEF1 ZNF316 MAFF MAFK JUN LINC02608 PPP2R5A NSL1 PACC1 piR-55657-024 ENSG00000229983
GH01J211984 Enhancer 0.7 ENCODE 5 +806.0 805993 1.6 USF1 TRIM22 POLR2A ZNF207 MEF2B NBN BATF IRF4 IKZF1 TBP ENSG00000212187 LPGAT1-AS1 NSL1 RF00017-468 piR-41306-021 INTS7 lnc-INTS7-2
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NSL1

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

Genomic Locations for NSL1 Gene

Genomic Locations for NSL1 Gene
chr1:212,726,153-212,791,797
(GRCh38/hg38)
Size:
65,645 bases
Orientation:
Minus strand
chr1:212,899,495-212,965,139
(GRCh37/hg19)
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 KNL1.
    SequenceCaution:
    • Sequence=AAF86877.1; Type=Frameshift; 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NSL1 Gene

Blocks:
  • N-6 Adenine-specific DNA methylase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NSL1 Gene

GenScript: Design optimal peptide antigens:
  • Kinetochore-associated protein NSL1 homolog (NSL1_HUMAN)
  • Chromosome 1 open reading frame 48, isoform CRA_a (Q53FM2_HUMAN)
genes like me logo Genes that share domains with NSL1: view

No data available for Graphical View of Domain Structure and 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

Animal Model Products

CRISPR Products

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

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 2
cytoskeleton 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (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,IBA 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 21873635
GO:0007049 cell cycle IEA --
GO:0007059 chromosome segregation IEA --
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

mRNA/cDNA for NSL1 Gene

5 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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: - -
SP8:

Relevant External Links for NSL1 Gene

GeneLoc Exon Structure 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, MaxQB, and MOPED for NSL1 Gene



Protein tissue co-expression partners for NSL1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NSL1

SOURCE GeneReport for Unigene cluster for NSL1 Gene:

Hs.497692

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
chimpanzee
(Pan troglodytes)
Mammalia NSL1 31 30
  • 99.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NSL1 31 30
  • 87.5 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NSL1 31 30
  • 87.35 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nsl1 30
  • 76.19 (n)
mouse
(Mus musculus)
Mammalia Nsl1 17 31 30
  • 75.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NSL1 31
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NSL1 31
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves NSL1 30
  • 60.44 (n)
NSL1/DC31 31
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NSL1 31
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsl1 30
  • 54.15 (n)
zebrafish
(Danio rerio)
Actinopterygii nsl1 31 30
  • 48.58 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for NSL1: view image

Paralogs for NSL1 Gene

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

  • NSL1_HUMAN
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NSL1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
709035 Benign: not provided 212,791,668(-) G/T SYNONYMOUS_VARIANT
783965 Benign: not provided 212,791,725(-) T/C SYNONYMOUS_VARIANT
rs15702 - p.Met254Val
rs17856201 - p.Ser4Phe

Additional dbSNP identifiers (rs#s) for NSL1 Gene

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
NSL1

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

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

Disorder Aliases PubMed IDs
extraocular retinoblastoma
  • pediatric extraocular retinoblastoma
blue toe syndrome
malaria
  • malaria, susceptibility to
parasitic protozoa infectious disease
  • mastigophora infectious disease
- 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 41 54
  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 54
  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 54
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  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 54

Products for NSL1 Gene

Sources for NSL1 Gene