Gene Gene information from NCBI Gene database.
Entrez ID 25936
Gene name NSL1 component of MIS12 kinetochore complex
Gene symbol NSL1
Synonyms (NCBI Gene)
C1orf48DC8MIS14
Chromosome 1
Chromosome location 1q32.3
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 conserv
miRNA miRNA information provided by mirtarbase database.
637
miRTarBase ID miRNA Experiments Reference
MIRT016100 hsa-miR-421 Sequencing 20371350
MIRT030278 hsa-miR-26b-5p Microarray 19088304
MIRT1195090 hsa-miR-1202 CLIP-seq
MIRT1195091 hsa-miR-1253 CLIP-seq
MIRT1195092 hsa-miR-129-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000070 Process Mitotic sister chromatid segregation IEA
GO:0000444 Component MIS12/MIND type complex IBA
GO:0000444 Component MIS12/MIND type complex IDA 16585270, 20819937, 27881301
GO:0000444 Component MIS12/MIND type complex NAS 21633384
GO:0000775 Component Chromosome, centromeric region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609174 24548 ENSG00000117697
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96IY1
Protein name Kinetochore-associated protein NSL1 homolog
Protein function Part of the MIS12 complex which is required for normal chromosome alignment and segregation and kinetochore formation during mitosis.
PDB 4NF9 , 5LSI , 5LSJ , 5LSK , 8PPR , 8Q5H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08641 Mis14 82 197 Kinetochore protein Mis14 like Family
Sequence
MAGSPELVVLDPPWDKELAAGTESQALVSATPREDFRVRCTSKRAVTEMLQLCGRFVQKL
GDALPEEIREPALRDAQWTFESAVQENISINGQAWQEASDNCFMDSDIKVLEDQFDEIIV
DIATKRKQYPRKILECVIKTIKAKQEILKQYHPVVHPLDLKYDPDPAPHMENLKCRGETV
AKEISEAMKSLPALIEQ
GEGFSQVLRMQPVIHLQRIHQEVFSSCHRKPDAKPENFITQIE
TTPTETASRKTSDMVLKRKQTKDCPQRKWYPLRPKKINLDT
Sequence length 281
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases Activate Formins
Mitotic Prometaphase
EML4 and NUDC in mitotic spindle formation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LEPROSY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations