Entity Details

Primary name SUFU_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9UMX1
EntryNameSUFU_HUMAN
FullNameSuppressor of fused homolog
TaxID9606
Evidenceevidence at protein level
Length484
SequenceStatuscomplete
DateCreated2005-04-12
DateModified2021-06-02

Ontological Relatives

GenesSUFU

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0001501 skeletal system development
GO:0001843 neural tube closure
GO:0001947 heart looping
GO:0003281 ventricular septum development
GO:0003714 transcription corepressor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006355 regulation of transcription, DNA-templated
GO:0006508 proteolysis
GO:0007165 signal transduction
GO:0007275 multicellular organism development
GO:0008013 beta-catenin binding
GO:0008134 transcription factor binding
GO:0019901 protein kinase binding
GO:0021775 smoothened signaling pathway involved in ventral spinal cord interneuron specification
GO:0021776 smoothened signaling pathway involved in spinal cord motor neuron cell fate specification
GO:0035904 aorta development
GO:0042308 negative regulation of protein import into nucleus
GO:0042994 cytoplasmic sequestering of transcription factor
GO:0043433 negative regulation of DNA-binding transcription factor activity
GO:0043588 skin development
GO:0045668 negative regulation of osteoblast differentiation
GO:0045879 negative regulation of smoothened signaling pathway
GO:0060976 coronary vasculature development
GO:0097542 ciliary tip
GO:0097546 ciliary base
GO:1901621 negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning
GO:2000059 negative regulation of ubiquitin-dependent protein catabolic process

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR007768 Suppressor of fusedFamilyFamily
IPR016591 Suppressor of fused, eukaryoticFamilyFamily
IPR020941 Suppressor of fused-like domainDomainDomain
IPR024314 Suppressor of fused C-terminalDomainDomain
IPR037181 Suppressor of fused, N-terminalFamilyHomologous superfamily
IPR038489 Suppressor of fused, C-terminal domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
109400 OMIMBasal cell nevus syndrome (BCNS)An autosomal dominant disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas, fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. The disease is caused by variants affecting the gene represented in this entry.
155255 OMIMMedulloblastoma (MDB)Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. The disease is caused by variants affecting the gene represented in this entry.
617757 OMIMJoubert syndrome 32 (JBTS32)A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS32 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Interactions

58 interactions

InteractorPartnerSourcesPublicationsLink
SUFU_HUMANRCN3_HUMANBioGRID, HPRD, IntAct16189514 32296183 details
SUFU_HUMANPEX26_HUMANBioGRID, HPRD, IntAct16189514 details
SUFU_HUMANNADC_HUMANBioGRID, HPRD, IntAct16189514 details
SUFU_HUMANGLIS3_HUMANBioGRID, HPRD, IntAct16189514 20211142 21543335 26147758 details
SUFU_HUMANZN446_HUMANBioGRID, HPRD, IntAct16189514 32296183 details
SUFU_HUMANZN764_HUMANBioGRID, HPRD, IntAct16189514 28514442 32296183 details
SUFU_HUMANM1IP1_HUMANBioGRID, HPRD, IntAct16189514 details
SUFU_HUMANZN263_HUMANBioGRID, HPRD, IntAct16189514 31515488 details
SUFU_HUMANGLI1_HUMANBioGRID, HPRD, IntAct, MINT10559945 10564661 12426310 20211142 21543335 22439934 24217340 24311597 24854174 25241761 25609649 27234298 29249966 29662197 31278361 32296183 details
SUFU_HUMANGLI3_HUMANBioGRID, HPRD, IntAct10564661 24311597 29515120 details
SUFU_HUMANSUFU_HUMANBioGRID, HPRD, IntAct10564661 14611647 details
SUFU_HUMANZN747_HUMANBioGRID, IntAct20211142 25416956 28514442 31515488 details
SUFU_HUMANMAGL2_HUMANBioGRID, IntAct32296183 details
SUFU_HUMANABI3_HUMANBioGRID, IntAct32296183 details
SUFU_HUMANK2C75_HUMANBioGRID, IntAct32296183 details
SUFU_HUMANDISC1_HUMANBioGRID, IntAct32296183 details
SUFU_HUMANZN330_HUMANBioGRID, IntAct32296183 details
SUFU_HUMANLCA5_HUMANBioGRID, IntAct32296183 details
SUFU_HUMANS41A3_HUMANBioGRID, IntAct32296183 details
SUFU_HUMANK1C27_HUMANBioGRID, IntAct32296183 details
SUFU_HUMANHDX_HUMANBioGRID, IntAct20211142 32296183 details
SUFU_HUMANNDKM_HUMANIntAct32296183 details
SUFU_HUMANZIC1_HUMANBioGRID, IntAct32296183 details
SUFU_HUMANCRX_HUMANBioGRID, IntAct32296183 details
SUFU_HUMANBFSP2_HUMANBioGRID, IntAct28514442 32296183 details
SUFU_HUMANTLE5_HUMANBioGRID, IntAct32296183 details
SUFU_HUMANLZTS1_HUMANBioGRID, IntAct32296183 details
SUFU_HUMANZN114_HUMANBioGRID, IntAct32296183 details
SUFU_HUMANLMBL3_HUMANBioGRID, IntAct32296183 details
SUFU_HUMANZSC18_HUMANBioGRID, IntAct32296183 details
SUFU_HUMANSTX19_HUMANBioGRID, IntAct32296183 details
SUFU_HUMANFXR1_HUMANBioGRID, IntAct32296183 details
SUFU_HUMANCRTC2_HUMANBioGRID, IntAct32296183 details
SUFU_HUMANZN763_HUMANBioGRID, IntAct32296183 details
SUFU_HUMANKLK6_HUMANIntAct32814053 details
SUFU_HUMANGLI2_HUMANBioGRID, HPRD10564661 details
SUFU_HUMANSAP18_HUMANBioGRID, HPRD11960000 14611647 17002296 details
SUFU_HUMANFXL17_HUMANBioGRID24035498 27234298 31560077 details
SUFU_HUMANITCH_HUMANBioGRID29515120 details
SUFU_HUMANMEOX2_HUMANBioGRID32296183 details
SUFU_HUMANSH3R1_HUMANBioGRID32296183 details
SUFU_HUMANHMGA1_HUMANHPRD14611647 details
SUFU_HUMANNCOA3_HUMANHPRD14611647 details
SUFU_HUMANLTOR3_HUMANHPRD14611647 details
SUFU_HUMANZN219_HUMANHPRD14611647 details
SUFU_HUMANRN19A_HUMANHPRD14611647 details
SUFU_HUMANPIAS1_HUMANHPRD14611647 details
SUFU_HUMANSETB1_HUMANHPRD14611647 details
SUFU_HUMANSUH_HUMANHPRD14611647 details
SUFU_HUMANLEG3_HUMANHPRD14611647 details
SUFU_HUMANROA1_HUMANHPRD14611647 details
SUFU_HUMANSTK36_HUMANBioGRID, HPRD, IntAct10806483 25241761 details
SUFU_HUMANTTP_HUMANBioGRID29395067 details
SUFU_HUMANMEX3B_HUMANBioGRID29395067 details
SUFU_HUMANM3K3_HUMANBioGRID29662197 details
SUFU_HUMANRUNX3_HUMANBioGRID31278361 details
SUFU_HUMANRHG36_HUMANBioGRID25024229 details
SUFU_HUMANFBW1A_HUMANHPRD10564661 details