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

    Gene ID: 51684, updated on 3-May-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SUFU in Genome Data Viewer
    Location:
    10q24.32
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (102502819..102633535)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (103387806..103518575)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Basal cell nevus syndrome 2
    MedGen: C5830451 OMIM: 620343 GeneReviews: Not available
    not available
    Familial meningioma Compare labs
    Joubert syndrome 32
    MedGen: C4540342 OMIM: 617757 GeneReviews: Not available
    Compare labs
    Medulloblastoma
    MedGen: C0025149 OMIM: 155255 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    enables transcription factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 cytoplasmic sequestering of transcription factor IBA
    Inferred from Biological aspect of Ancestor
    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 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

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

    NCBI Reference Sequences (RefSeq)

    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_001178133.2NP_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:64240
      SUFU; Suppressor of fused protein (SUFU)
      pfam12470
      Location:253433
      SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
    2. NM_016169.4NP_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:64240
      SUFU; Suppressor of fused protein (SUFU)
      pfam12470
      Location:253473
      SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_047425335.1XP_047281291.1  suppressor of fused homolog isoform X1

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

      UniProtKB/TrEMBL
      B2R5U4
      Conserved Domains (2) summary
      pfam05076
      Location:10182
      SUFU; Suppressor of fused protein (SUFU)
      pfam12470
      Location:196458
      SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
    3. XM_047425336.1XP_047281292.1  suppressor of fused homolog isoform X3

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

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

    6. XM_011539858.4XP_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:68240
      SUFU; Suppressor of fused protein (SUFU)
      pfam12470
      Location:254516
      SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
    7. XM_011539861.4XP_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:64240
      SUFU; Suppressor of fused protein (SUFU)
      pfam12470
      Location:254474
      SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
    8. XM_011539860.4XP_011538162.1  suppressor of fused homolog isoform X2

      UniProtKB/TrEMBL
      A0A223LX15, B2R5U4
      Conserved Domains (2) summary
      pfam05076
      Location:64240
      SUFU; Suppressor of fused protein (SUFU)
      pfam12470
      Location:253515
      SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
    9. XM_011539864.3XP_011538166.1  suppressor of fused homolog isoform X9

      UniProtKB/TrEMBL
      B2R5U4
      Conserved Domains (2) summary
      pfam05076
      Location:64240
      SUFU; Suppressor of fused protein (SUFU)
      pfam12470
      Location:254434
      SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
    10. XM_047425339.1XP_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_054366064.1XP_054222039.1  suppressor of fused homolog isoform X1

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

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

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

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

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

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

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

      UniProtKB/TrEMBL
      A0A223LX15
    9. XM_054366072.1XP_054222047.1  suppressor of fused homolog isoform X9

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