SUFU

SUFU
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1M1L, 4BL8, 4BL9, 4BLA, 4BLB, 4BLD, 4KM8, 4KM9, 4KMD, 4KMH
Dynodwyr
Cyfenwau	SUFU, PRO1280, SUFUH, SUFUXL, SUFU negative regulator of hedgehog signaling, JBTS32
Dynodwyr allanol	OMIM: 607035 HomoloGene: 9262 GeneCards: SUFU
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • beta-catenin binding • GO:0001106 transcription corepressor activity • transcription factor binding • signal transducer activity • GO:0001948, GO:0016582 protein binding • protein kinase binding Cydrannau o'r gell • cytosol • cilium • ciliary base • ciliary tip • cnewyllyn cell • cytoplasm Prosesau biolegol • skeletal system development • GO:0009373 regulation of transcription, DNA-templated • ventricular septum development • smoothened signaling pathway involved in ventral spinal cord interneuron specification • negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning • spinal cord dorsal/ventral patterning • GO:1901227 negative regulation of transcription by RNA polymerase II • coronary vasculature development • negative regulation of DNA-binding transcription factor activity • negative regulation of osteoblast differentiation • proteolysis • heart looping • aorta development • neural tube closure • determination of left/right symmetry • smoothened signaling pathway involved in spinal cord motor neuron cell fate specification • negative regulation of ubiquitin-dependent protein catabolic process • GO:0072468 signal transduction • skin development • multicellular organism development • cytoplasmic sequestering of transcription factor • negative regulation of protein import into nucleus • negative regulation of smoothened signaling pathway Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	51684	n/a
Ensembl	ENSG00000107882	n/a
UniProt	Q9UMX1	n/a
RefSeq (mRNA)	NM_001178133 NM_016169	n/a
RefSeq (protein)	NP_001171604 NP_057253	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn SUFU yw SUFU a elwir hefyd yn SUFU negative regulator of hedgehog signaling (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn blaen o gromosom dynol 10, band 10q24.32.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn SUFU.

• SUFUH
• JBTS32
• SUFUXL
• PRO1280

Llyfryddiaeth

• "Multiple Hereditary Infundibulocystic Basal Cell Carcinoma Syndrome Associated With a Germline SUFU Mutation. ". JAMA Dermatol. 2016. PMID 26677003.
• "Genome-wide single-nucleotide polymorphism analysis revealed SUFU suppression of acute graft-versus-host disease through downregulation of HLA-DR expression in recipient dendritic cells. ". Sci Rep. 2015. PMID 26067905.
• "Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. ". Am J Hum Genet. 2017. PMID 28965847.
• "Tumor-Derived Suppressor of Fused Mutations Reveal Hedgehog Pathway Interactions. ". PLoS One. 2016. PMID 28030567.
• "Identification of a novel alternative splicing transcript variant of the suppressor of fused: Relationship with lymph node metastasis in pancreatic ductal adenocarcinoma.". Int J Oncol. 2016. PMID 27840902.