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    Sufu SUFU negative regulator of hedgehog signaling [ Mus musculus (house mouse) ]

    Gene ID: 24069, updated on 28-Oct-2024

    Summary

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    Official Symbol
    Sufuprovided by MGI
    Official Full Name
    SUFU negative regulator of hedgehog signalingprovided by MGI
    Primary source
    MGI:MGI:1345643
    See related
    Ensembl:ENSMUSG00000025231 AllianceGenome:MGI:1345643
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Su(fu)
    Summary
    Enables beta-catenin binding activity. Involved in negative regulation of smoothened signaling pathway. Acts upstream of with a negative effect on smoothened signaling pathway. Acts upstream of or within several processes, including circulatory system development; regulation of DNA-templated transcription; and smoothened signaling pathway involved in ventral spinal cord patterning. Located in cilium; cytoplasm; and nucleus. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; sensory organ; and testis. Used to study nevoid basal cell carcinoma syndrome. Human ortholog(s) of this gene implicated in Joubert syndrome 32; familial meningioma; medulloblastoma; and nevoid basal cell carcinoma syndrome 2. Orthologous to human SUFU (SUFU negative regulator of hedgehog signaling). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 35.4), kidney adult (RPKM 13.3) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Sufu in Genome Data Viewer
    Location:
    19 C3; 19 38.85 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (46385335..46477243)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (46396896..46488804)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene major facilitator superfamily domain containing 13a Neighboring gene predicted gene, 24610 Neighboring gene ARP1 actin-related protein 1A, centractin alpha Neighboring gene STARR-positive B cell enhancer ABC_E3253 Neighboring gene STARR-positive B cell enhancer ABC_E7668 Neighboring gene STARR-positive B cell enhancer ABC_E1528 Neighboring gene STARR-positive B cell enhancer ABC_E4288 Neighboring gene STARR-positive B cell enhancer ABC_E5708 Neighboring gene STARR-seq mESC enhancer starr_46309 Neighboring gene STARR-positive B cell enhancer ABC_E268 Neighboring gene STARR-seq mESC enhancer starr_46312 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:46592537-46592738 Neighboring gene tripartite motif-containing 8 Neighboring gene STARR-seq mESC enhancer starr_46316 Neighboring gene ADP-ribosylation factor-like 3 Neighboring gene STARR-positive B cell enhancer ABC_E8752 Neighboring gene STARR-positive B cell enhancer mm9_chr19:46647489-46647790

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3. Grimm T, et al. FEBS Lett, 2001 Sep 7. PMID 11557033
    2. Suppressor of Fused inhibits mammalian Hedgehog signaling in the absence of cilia. Jia J, et al. Dev Biol, 2009 Jun 15. PMID 19371734, Free PMC Article
    3. Variations in Hedgehog signaling: divergence and perpetuation in Sufu regulation of Gli. Ruel L, et al. Genes Dev, 2009 Aug 15. PMID 19684109, Free PMC Article
    4. Inactivation of Sufu in cementoblasts accelerates external tooth root resorption. Choi H, et al. J Cell Physiol, 2023 Feb. PMID 36598878
    5. Suppressor of Fused Regulation of Hedgehog Signaling is Required for Proper Astrocyte Differentiation. Spice DM, et al. Stem Cells Dev, 2022 Dec. PMID 36103394

    See all (130) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Increasing Sufu gene dosage reveals its unorthodox role in promoting polydactyly and medulloblastoma tumorigenesis.
      Title: Increasing Sufu gene dosage reveals its unorthodox role in promoting polydactyly and medulloblastoma tumorigenesis.
    2. Disrupting Hedgehog signaling in melanocytes by SUFU knockout leads to ocular melanocytosis and anterior segment malformation.
      Title: Disrupting Hedgehog signaling in melanocytes by SUFU knockout leads to ocular melanocytosis and anterior segment malformation.
    3. Inactivation of Sufu in cementoblasts accelerates external tooth root resorption.
      Title: Inactivation of Sufu in cementoblasts accelerates external tooth root resorption.
    4. Suppressor of Fused Regulation of Hedgehog Signaling is Required for Proper Astrocyte Differentiation.
      Title: Suppressor of Fused Regulation of Hedgehog Signaling is Required for Proper Astrocyte Differentiation.
    5. Sufu negatively regulates both initiations of centrosome duplication and DNA replication.
      Title: Sufu negatively regulates both initiations of centrosome duplication and DNA replication.
    6. PRMT7 methylates and suppresses GLI2 binding to SUFU thereby promoting its activation.
      Title: PRMT7 methylates and suppresses GLI2 binding to SUFU thereby promoting its activation.
    7. The Neocortical Progenitor Specification Program Is Established through Combined Modulation of SHH and FGF Signaling.
      Title: The Neocortical Progenitor Specification Program Is Established through Combined Modulation of SHH and FGF Signaling.
    8. Suppressor of Fused Inhibits Skin Wound Healing.
      Title: Suppressor of Fused Inhibits Skin Wound Healing.
    9. Sufu regulates cerebellar Shh-Gli signaling, postnatal granule cell progenitors proliferation and timing of cell cycle exit.
      Title: Suppressor of fused controls cerebellum granule cell proliferation by suppressing Fgf8 and spatially regulating Gli proteins.
    10. Here, the authors show that Suppressor of Fused (Sufu) controls establishment of the quiescent NSC pool during mouse dentate gyrus (DG) development by regulating Sonic Hedgehog (Shh) signaling activity.
      Title: Suppressor of fused controls perinatal expansion and quiescence of future dentate adult neural stem cells.
    Submit: New GeneRIF Correction See all GeneRIFs (50)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • b2b273Clo, 2810026F04Rik

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables beta-catenin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein kinase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within aorta development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within coronary vasculature development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cytoplasmic sequestering of transcription factor IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heart looping IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of smoothened signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within negative regulation of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of smoothened signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of ubiquitin-dependent protein catabolic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within neural tube closure IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cellular response to drug IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within skin development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_negative_effect smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within smoothened signaling pathway involved in spinal cord motor neuron cell fate specification IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within smoothened signaling pathway involved in ventral spinal cord interneuron specification IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spermatid development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within spinal cord dorsal/ventral patterning IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within ventricular septum development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of GLI-SUFU complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of GLI-SUFU complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    suppressor of fused homolog

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001025391.2 → NP_001020562.1  suppressor of fused homolog isoform 2

      See identical proteins and their annotated locations for NP_001020562.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AC114539, AJ308626, AK016976, BB732695, BC048168
      Consensus CDS
      CCDS29879.1
      UniProtKB/Swiss-Prot
      Q8C8B4, Q99JG0, Q9D521, Q9JLU1, Q9Z0P7
      UniProtKB/TrEMBL
      D3Z7B6
      Related
      ENSMUSP00000049109.7, ENSMUST00000039922.13
      Conserved Domains (2) summary
      pfam05076
      Location:68 → 240
      SUFU; Suppressor of fused protein (SUFU)
      pfam12470
      Location:253 → 473
      SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain

    2. NM_015752.3 → NP_056567.2  suppressor of fused homolog isoform 1

      See identical proteins and their annotated locations for NP_056567.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC114539, AJ308626, AK015885, AK016976, BB732695, BC048168
      Consensus CDS
      CCDS38008.1
      UniProtKB/TrEMBL
      D3Z7B6, Q3U0Z8
      Related
      ENSMUSP00000107498.3, ENSMUST00000111867.9
      Conserved Domains (2) summary
      pfam05076
      Location:68 → 240
      SUFU; Suppressor of fused protein (SUFU)
      pfam12470
      Location:254 → 474
      SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000085.7 Reference GRCm39 C57BL/6J

      Range
      46385335..46477243
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Z0P7.1 GenPept UniProtKB/Swiss-Prot:Q9Z0P7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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