Gene Gene information from NCBI Gene database.
Entrez ID 51203
Gene name Nucleolar and spindle associated protein 1
Gene symbol NUSAP1
Synonyms (NCBI Gene)
ANKTBM037LNPNUSAPPRO0310p1Q0310SAPL
Chromosome 15
Chromosome location 15q15.1
Summary NUSAP1 is a nucleolar-spindle-associated protein that plays a role in spindle microtubule organization (Raemaekers et al., 2003 [PubMed 12963707]).[supplied by OMIM, Jun 2009]
miRNA miRNA information provided by mirtarbase database.
86
miRTarBase ID miRNA Experiments Reference
MIRT052111 hsa-let-7b-5p CLASH 23622248
MIRT1200221 hsa-miR-1252 CLIP-seq
MIRT1200222 hsa-miR-186 CLIP-seq
MIRT1200223 hsa-miR-3163 CLIP-seq
MIRT1200224 hsa-miR-3662 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000070 Process Mitotic sister chromatid segregation IDA 12963707
GO:0000226 Process Microtubule cytoskeleton organization IEA
GO:0000281 Process Mitotic cytokinesis IBA
GO:0000281 Process Mitotic cytokinesis IDA 12963707
GO:0000281 Process Mitotic cytokinesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612818 18538 ENSG00000137804
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BXS6
Protein name Nucleolar and spindle-associated protein 1 (NuSAP)
Protein function Microtubule-associated protein with the capacity to bundle and stabilize microtubules (By similarity). May associate with chromosomes and promote the organization of mitotic spindle microtubules around them. {ECO:0000250, ECO:0000269|PubMed:1296
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16006 NUSAP 158 436 Nucleolar and spindle-associated protein Family
Sequence
Sequence length 441
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Microcephaly, seizures, and developmental delay Likely pathogenic rs2140875089 RCV002255108
★★★★☆
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
Acute myeloid leukemia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma Associate 37047232
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of Lung Associate 37752167, 39781524
★☆☆☆☆
Found in Text Mining only
Blind Loop Syndrome Associate 37047232
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 25756514, 26485712, 30476929, 31895772, 31901150, 32651974, 34384030, 36096037, 37713876
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 26554377, 31901150, 33126319
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 31746405, 31901150, 32046048, 33784984, 34238253, 36882493
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Associate 33126319
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Associate 35739489
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Associate 38229038
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 31469863
★★☆☆☆
Found in Text Mining + Unknown/Other Associations