SPDL1 (spindle apparatus coiled-coil protein 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 54908
Gene name Spindle apparatus coiled-coil protein 1
Gene symbol SPDL1
Synonyms (NCBI Gene)
CCDC99
Chromosome 5
Chromosome location 5q35.1
Summary This gene encodes a coiled-coil domain-containing protein that functions in mitotic spindle formation and chromosome segregation. The encoded protein plays a role in coordinating microtubule attachment by promoting recruitment of dynein proteins, and in m
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs730882228 CAAGCAAATTGGAAAAAGAAACTT>- Likely-pathogenic Inframe deletion, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT004899 hsa-miR-124-3p Microarray 15685193
MIRT004899 hsa-miR-124-3p Microarray 18668037
MIRT121906 hsa-miR-543 HITS-CLIP 19536157
MIRT714875 hsa-miR-944 HITS-CLIP 19536157
MIRT714874 hsa-miR-4275 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000132 Process Establishment of mitotic spindle orientation IBA
GO:0000132 Process Establishment of mitotic spindle orientation IMP 19468067
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IEA
GO:0000922 Component Spindle pole IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
616401 26010 ENSG00000040275
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96EA4
Protein name Protein Spindly (hSpindly) (Arsenite-related gene 1 protein) (Coiled-coil domain-containing protein 99) (Rhabdomyosarcoma antigen MU-RMS-40.4A) (Spindle apparatus coiled-coil domain-containing protein 1)
Protein function Required for the localization of dynein and dynactin to the mitotic kintochore. Dynein is believed to control the initial lateral interaction between the kinetochore and spindle microtubules and to facilitate the subsequent formation of end-on k
PDB 8ARF
Family and domains
Sequence 
MEADIITNLRCRLKEAEEERLKAAQYGLQLVESQNELQNQLDKCRNEMMTMTESYEQEKY
TLQREVELKSRMLESLSCECEAIKQQQKMHLEKLEEQLSRSHGQEVNELKTKIEKLKVEL
DEARLSEKQLKHQVDHQKELLSCKSEELRVMSERVQESMSSEMLALQIELTEMESMKTTL
KEEVNELQYRQEQLELLITNLMRQVDRLKEEKEEREKEAVSYYNALEKARVANQDLQVQL
DQALQQALDPNSKGNSLFAEVEDRRAAMERQLISMKVKYQSLKKQNVFNREQMQRMKLQI
ATLLQMKGSQTEFEQQERLLAMLEQKNGEIKHLLGEIRNLEKFKNLYDSMESKPSVDSGT
LEDNTYYTDLLQMKLDNLNKEIESTKGELSIQRMKALFESQRALDIERKLFANERCLQLS
ESENMKLRAKLDELKLKYEPEETVEVPVLKKRREVLPVDITTAKDACVNNSALGGEVYRL
PPQKEETQSCPNSLEDNNLQLEKSVSIYTPVVSLSPHKNLPVDMQLKKEKKCVKLIGVPA
DAEALSERSGNTPNSPRLAAESKLQTEVKEGKETSSKLEKETCKKLHPILYVSSKSTPET
QCPQQ
Sequence length 605
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neonatal death Likely pathogenic rs730882228 RCV000162147
Severe primary microcephaly Likely pathogenic rs730882228 RCV000162147
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatocellular carcinoma Uncertain significance rs138841185 RCV005932618
Lymphoma Likely benign rs140005442 RCV005903170
Malignant tumor of esophagus Likely benign rs140005442 RCV005903168
Melanoma Likely benign rs140005442 RCV005903171
Show/Hide Text Mining Associations (35)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 36275753
Arthritis Rheumatoid Associate 30140263
Autoimmune Diseases Associate 32243638
Bacterial Infections Associate 34956225
Breast Neoplasms Associate 37762557
Carcinoma Hepatocellular Associate 31811111, 34478821
Carcinoma Non Small Cell Lung Associate 35874720, 37646826
Carcinoma Renal Cell Associate 35184226
Cell Transformation Neoplastic Associate 37762557
Colitis Ulcerative Associate 37273534