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    SUFU SUFU negative regulator of hedgehog signaling [ Homo sapiens (human) ]

    Gene ID: 51684, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SUFUprovided by HGNC
    Official Full Name
    SUFU negative regulator of hedgehog signalingprovided by HGNC
    Primary source
    HGNC:HGNC:16466
    See related
    Ensembl:ENSG00000107882 MIM:607035; AllianceGenome:HGNC:16466
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BCNS2; SUFUH; JBTS32; SUFUXL; PRO1280
    Summary
    The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
    Expression
    Ubiquitous expression in skin (RPKM 4.8), ovary (RPKM 4.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SUFU in Genome Data Viewer
    Location:
    10q24.32
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (102502819..102633535)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (103387806..103518575)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (104263729..104393292)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902493 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104220868-104221551 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104221552-104222234 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:104233222-104233665 Neighboring gene major facilitator superfamily domain containing 13A Neighboring gene actin related protein 1A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104260453-104260953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2763 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2764 Neighboring gene Sharpr-MPRA regulatory region 236 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104264916-104265416 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3940 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:104325435-104326134 Neighboring gene ribosomal protein L23a pseudogene 58 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104356533-104357509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104359509-104360259 Neighboring gene RNA, U6 small nuclear 43, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:104363477-104364676 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104388216-104388758 Neighboring gene Sharpr-MPRA regulatory region 14384 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104391317-104392064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:104392065-104392810 Neighboring gene Sharpr-MPRA regulatory region 2079 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2765 Neighboring gene hESC enhancers GRCh37_chr10:104402874-104403628 and GRCh37_chr10:104403629-104404384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3942 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:104405671-104405887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104408319-104409286 Neighboring gene uncharacterized LOC105378460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3947 Neighboring gene TRIM8 divergent transcript Neighboring gene tripartite motif containing 8

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations. Brugières L, et al. J Med Genet, 2010 Feb. PMID 19833601
    2. Mutations in SUFU and PTCH1 genes may cause different cutaneous cancer predisposition syndromes: similar, but not the same. Huq AJ, et al. Fam Cancer, 2018 Oct. PMID 29356994
    3. Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis. Guerrini-Rousseau L, et al. Neuro Oncol, 2018 Jul 5. PMID 29186568, Free PMC Article
    4. MicroRNA expression changes during human leukemic HL-60 cell differentiation induced by 4-hydroxynonenal, a product of lipid peroxidation. Pizzimenti S, et al. Free Radic Biol Med, 2009 Jan 15. PMID 19022373
    5. Tumor-Derived Suppressor of Fused Mutations Reveal Hedgehog Pathway Interactions. Urman NM, et al. PLoS One, 2016. PMID 28030567, Free PMC Article

    See all (122) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.
      Title: Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.
    2. WNT5A, betacatenin and SUFU expression patterns, and the significance of microRNA deregulation in placentas with intrauterine growth restriction.
      Title: WNT5A, β‑catenin and SUFU expression patterns, and the significance of microRNA deregulation in placentas with intrauterine growth restriction.
    3. ERK2 MAP kinase regulates SUFU binding by multisite phosphorylation of GLI1.
      Title: ERK2 MAP kinase regulates SUFU binding by multisite phosphorylation of GLI1.
    4. SUFU mediates EMT and Wnt/beta-catenin signaling pathway activation promoted by miRNA-324-5p in human gastric cancer.
      Title: SUFU mediates EMT and Wnt/β-catenin signaling pathway activation promoted by miRNA-324-5p in human gastric cancer.
    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. Differences in RNA and microRNA Expression Between PTCH1- and SUFU-mutated Medulloblastoma.
      Title: Differences in RNA and microRNA Expression Between PTCH1- and SUFU-mutated Medulloblastoma.
    7. Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
      Title: Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
    8. LIFR-AS1 modulates Sufu to inhibit cell proliferation and migration by miR-197-3p in breast cancer.
      Title: LIFR-AS1 modulates Sufu to inhibit cell proliferation and migration by miR-197-3p in breast cancer.
    9. The Twist1-regulated miR-214 promotes the activation of Hepatic stellate cells through targeting Sufu involved in the Hedgehog pathway and participates in the development of hepatic fibrosis. Hence, the knockdown of miR-214 expression may be a promising therapeutic strategy for liver fibrosis.
      Title: MicroRNA-214 promotes hepatic stellate cell activation and liver fibrosis by suppressing Sufu expression.
    10. Germline SUFU mutations are associated with medulloblastoma.
      Title: Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis.
    Submit: New GeneRIF Correction See all GeneRIFs (63)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Basal cell nevus syndrome 2
    MedGen: C5830451 OMIM: 620343 GeneReviews: Not available
    		not available
    Familial meningioma
    MedGen: C3551915 OMIM: 607174 GeneReviews: MN1 C-Terminal Truncation Syndrome
    		not available
    Joubert syndrome 32
    MedGen: C4540342 OMIM: 617757 GeneReviews: Not available
    		not available
    Medulloblastoma
    MedGen: C0025149 OMIM: 155255 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-catenin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription corepressor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aorta development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in coronary vasculature development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heart looping IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of osteoblast differentiation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of protein import into nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of smoothened signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of smoothened signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neural tube closure IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cellular response to drug IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of DNA-templated transcription TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in skin development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in smoothened signaling pathway involved in spinal cord motor neuron cell fate specification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in smoothened signaling pathway involved in ventral spinal cord interneuron specification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatid development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ventricular septum development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of GLI-SUFU complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of GLI-SUFU complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in ciliary base TAS
    Traceable Author Statement
    more info
    		  
    located_in ciliary tip TAS
    Traceable Author Statement
    more info
    		  
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    suppressor of fused homolog
    Names
    negative regulator of hedgehog signaling

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_021338.1 RefSeqGene

      Range
      5001..134496
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_521

    mRNA and Protein(s)

    1. NM_001178133.2 → NP_001171604.1  suppressor of fused homolog isoform 2

      See identical proteins and their annotated locations for NP_001171604.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AL391121, AY358550, DA248208
      Consensus CDS
      CCDS53571.1
      UniProtKB/TrEMBL
      B2R5U4
      Related
      ENSP00000358915.2, ENST00000369899.6
      Conserved Domains (2) summary
      pfam05076
      Location:64 → 240
      SUFU; Suppressor of fused protein (SUFU)
      pfam12470
      Location:253 → 433
      SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain

    2. NM_016169.4 → NP_057253.2  suppressor of fused homolog isoform 1

      See identical proteins and their annotated locations for NP_057253.2

      Status: REVIEWED

      Description
      Transcript Variant: Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL121928, AL157386, AL391121
      Consensus CDS
      CCDS7537.1
      UniProtKB/Swiss-Prot
      Q7LCP7, Q9NT90, Q9NZ07, Q9UHK2, Q9UHM8, Q9UMX1, Q9UMY0
      UniProtKB/TrEMBL
      B2R5U4
      Related
      ENSP00000358918.4, ENST00000369902.8
      Conserved Domains (2) summary
      pfam05076
      Location:64 → 240
      SUFU; Suppressor of fused protein (SUFU)
      pfam12470
      Location:253 → 473
      SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      102502819..102633535
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425335.1 → XP_047281291.1  suppressor of fused homolog isoform X1

    2. XM_011539863.4 → XP_011538165.1  suppressor of fused homolog isoform X5

      UniProtKB/TrEMBL
      B2R5U4
      Conserved Domains (2) summary
      pfam05076
      Location:10 → 182
      SUFU; Suppressor of fused protein (SUFU)
      pfam12470
      Location:196 → 458
      SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain

    3. XM_047425336.1 → XP_047281292.1  suppressor of fused homolog isoform X3

    4. XM_047425337.1 → XP_047281293.1  suppressor of fused homolog isoform X6

    5. XM_047425338.1 → XP_047281294.1  suppressor of fused homolog isoform X7

    6. XM_011539858.4 → XP_011538160.1  suppressor of fused homolog isoform X1

      See identical proteins and their annotated locations for XP_011538160.1

      UniProtKB/TrEMBL
      B2R5U4
      Conserved Domains (2) summary
      pfam05076
      Location:68 → 240
      SUFU; Suppressor of fused protein (SUFU)
      pfam12470
      Location:254 → 516
      SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain

    7. XM_011539861.4 → XP_011538163.1  suppressor of fused homolog isoform X4

      See identical proteins and their annotated locations for XP_011538163.1

      UniProtKB/TrEMBL
      B2R5U4
      Conserved Domains (2) summary
      pfam05076
      Location:64 → 240
      SUFU; Suppressor of fused protein (SUFU)
      pfam12470
      Location:254 → 474
      SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain

    8. XM_011539860.4 → XP_011538162.1  suppressor of fused homolog isoform X2

      UniProtKB/TrEMBL
      A0A223LX15, B2R5U4
      Conserved Domains (2) summary
      pfam05076
      Location:64 → 240
      SUFU; Suppressor of fused protein (SUFU)
      pfam12470
      Location:253 → 515
      SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain

    9. XM_011539864.3 → XP_011538166.1  suppressor of fused homolog isoform X9

      UniProtKB/TrEMBL
      B2R5U4
      Conserved Domains (2) summary
      pfam05076
      Location:64 → 240
      SUFU; Suppressor of fused protein (SUFU)
      pfam12470
      Location:254 → 434
      SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain

    10. XM_047425339.1 → XP_047281295.1  suppressor of fused homolog isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      103387806..103518575
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366064.1 → XP_054222039.1  suppressor of fused homolog isoform X1

    2. XM_054366068.1 → XP_054222043.1  suppressor of fused homolog isoform X5

    3. XM_054366066.1 → XP_054222041.1  suppressor of fused homolog isoform X3

    4. XM_054366069.1 → XP_054222044.1  suppressor of fused homolog isoform X6

    5. XM_054366070.1 → XP_054222045.1  suppressor of fused homolog isoform X7

    6. XM_054366063.1 → XP_054222038.1  suppressor of fused homolog isoform X1

    7. XM_054366067.1 → XP_054222042.1  suppressor of fused homolog isoform X4

    8. XM_054366065.1 → XP_054222040.1  suppressor of fused homolog isoform X2

      UniProtKB/TrEMBL
      A0A223LX15

    9. XM_054366072.1 → XP_054222047.1  suppressor of fused homolog isoform X9

    10. XM_054366071.1 → XP_054222046.1  suppressor of fused homolog isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UMX1.2 GenPept UniProtKB/Swiss-Prot:Q9UMX1

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