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

Gene ID: 24069, updated on 5-Mar-2023

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. Acts upstream of with a negative effect on smoothened signaling pathway. Acts upstream of or within several processes, including animal organ development; negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning; and regulation of transcription, DNA-templated. Located in cilium; cytoplasm; and nucleus. Is expressed in several structures, including alimentary system; central nervous system; limb; 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. Orthologous to human SUFU (SUFU negative regulator of hedgehog signaling). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 35.4), kidney adult (RPKM 13.3) and 26 other tissues See more
Orthologs
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Genomic context

See Sufu in Genome Data Viewer
Location:
19 C3; 19 38.85 cM
Exon count:
12
Annotation release Status Assembly Chr Location
109 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 tripartite motif-containing 8 Neighboring gene ADP-ribosylation factor-like 3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 ISO
Inferred from Sequence Orthology
more info
 
enables transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
involved_in cytoplasmic sequestering of transcription factor IBA
Inferred from Biological aspect of Ancestor
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 
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of hh target transcription factor activity ISO
Inferred from Sequence Orthology
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 smoothened signaling pathway involved in dorsal/ventral neural tube patterning IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 
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 smoothened signaling pathway involved in dorsal/ventral neural tube patterning 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 
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
 
located_in cilium IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 ISO
Inferred from Sequence Orthology
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 

General protein information

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_001025391.2NP_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
    Q9JLU1, Q9Z0P7
    UniProtKB/TrEMBL
    A0A8C6GW37
    Related
    ENSMUSP00000049109.7, ENSMUST00000039922.13
    Conserved Domains (2) summary
    pfam05076
    Location:68240
    SUFU; Suppressor of fused protein (SUFU)
    pfam12470
    Location:253473
    SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
  2. NM_015752.3NP_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/Swiss-Prot
    Q9Z0P7
    UniProtKB/TrEMBL
    Q3U0Z8
    Related
    ENSMUSP00000107498.3, ENSMUST00000111867.9
    Conserved Domains (2) summary
    pfam05076
    Location:68240
    SUFU; Suppressor of fused protein (SUFU)
    pfam12470
    Location:254474
    SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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)