SPDL1 (spindle apparatus coiled-coil protein 1)

2014-11-01  

Identity

HGNC
SPDL1
LOCATION
5q35.1
LOCUSID
54908
ALIAS
CCDC99
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54908
MIM: 616401
HGNC: 26010
Ensembl: ENSG00000040275

Variants:

dbSNP: 54908
ClinVar: 54908
TCGA: ENSG00000040275
COSMIC: SPDL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000040275ENST00000265295Q96EA4
ENSG00000040275ENST00000503871H7C5V2
ENSG00000040275ENST00000505977H0YBG5
ENSG00000040275ENST00000506574D6REZ1
ENSG00000040275ENST00000507232D6RDK5
ENSG00000040275ENST00000508247D6RIF7
ENSG00000040275ENST00000509785D6RCL1
ENSG00000040275ENST00000512028D6RCL1
ENSG00000040275ENST00000513795D6RIB8
ENSG00000040275ENST00000513941D6RC83
ENSG00000040275ENST00000515224D6R936
ENSG00000040275ENST00000629457D6RCL1

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate ForminsREACTOMER-HSA-5663220
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
M PhaseREACTOMER-HSA-68886
Mitotic PrometaphaseREACTOMER-HSA-68877
Resolution of Sister Chromatid CohesionREACTOMER-HSA-2500257
Mitotic Metaphase and AnaphaseREACTOMER-HSA-2555396
Mitotic AnaphaseREACTOMER-HSA-68882
Separation of Sister ChromatidsREACTOMER-HSA-2467813

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
337582992021Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis.26
337582992021Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis.26
335432222020[Expression and clinical significance of Spindly and Bub3 in oral squamous cell carcinoma].3
335432222020[Expression and clinical significance of Spindly and Bub3 in oral squamous cell carcinoma].3
316906632019MRTFB suppresses colorectal cancer development through regulating SPDL1 and MCAM.16
316906632019MRTFB suppresses colorectal cancer development through regulating SPDL1 and MCAM.16
302581002018USP45 and Spindly are part of the same complex implicated in cell migration.7
302581002018USP45 and Spindly are part of the same complex implicated in cell migration.7
258084902015Preventing farnesylation of the dynein adaptor Spindly contributes to the mitotic defects caused by farnesyltransferase inhibitors.25
258255162015A novel role of farnesylation in targeting a mitotic checkpoint protein, human Spindly, to kinetochores.35
258084902015Preventing farnesylation of the dynein adaptor Spindly contributes to the mitotic defects caused by farnesyltransferase inhibitors.25
258255162015A novel role of farnesylation in targeting a mitotic checkpoint protein, human Spindly, to kinetochores.35
204275772010Spindly/CCDC99 is required for efficient chromosome congression and mitotic checkpoint regulation.77
204394342010Removal of Spindly from microtubule-attached kinetochores controls spindle checkpoint silencing in human cells.108
204275772010Spindly/CCDC99 is required for efficient chromosome congression and mitotic checkpoint regulation.77

Citation

Dessen P

SPDL1 (spindle apparatus coiled-coil protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74156/css/deep-insight-explorer/js/_common.js