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

Summary

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 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, Dec 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

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_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Inactivation of Sufu in cementoblasts accelerates external tooth root resorption.
Title: Inactivation of Sufu in cementoblasts accelerates external tooth root resorption.
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.
Sufu negatively regulates both initiations of centrosome duplication and DNA replication.
Title: Sufu negatively regulates both initiations of centrosome duplication and DNA replication.
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.
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.
Suppressor of Fused Inhibits Skin Wound Healing.
Title: Suppressor of Fused Inhibits Skin Wound Healing.
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.
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)

Chemically induced (ENU) (8) 1 citation
Endonuclease-mediated (2)
Gene trapped (1) 1 citation
Targeted (13) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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)

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
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