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

Gene ID: 51684, updated on 12-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
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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)

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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