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

Gene ID: 51684, updated on 26-May-2016
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 HPRD:06124; MIM:607035; Vega:OTTHUMG00000018966
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
SUFUH; 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]
Orthologs
Location:
10q24.32
Exon count:
16
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 10 NC_000010.11 (102502874..102633457)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (104263719..104393214)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene RPARP antisense RNA 1 Neighboring gene chromosome 10 open reading frame 95 Neighboring gene major facilitator superfamily domain containing 13A Neighboring gene ARP1 actin-related protein 1 homolog A, centractin alpha Neighboring gene ribosomal protein L23a pseudogene 58 Neighboring gene uncharacterized LOC105378460 Neighboring gene tripartite motif containing 8 Neighboring gene ADP ribosylation factor like GTPase 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Gorlin syndrome Compare labs
Medulloblastoma
MedGen: C0025149 OMIM: 155255 GeneReviews: Not available
Compare labs
Meningioma, familial
MedGen: C1333989 OMIM: 607174 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog
  • Basal cell carcinoma, organism-specific biosystem (from KEGG)
    Basal cell carcinoma, organism-specific biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
  • Basal cell carcinoma, conserved biosystem (from KEGG)
    Basal cell carcinoma, conserved biosystemCancer of the skin is the most common cancer in Caucasians and basal cell carcinomas (BCC) account for 90% of all skin cancers. The vast majority of BCC cases are sporadic, though there is a rare fam...
  • Degradation of GLI1 by the proteasome, organism-specific biosystem (from REACTOME)
    Degradation of GLI1 by the proteasome, organism-specific biosystemGLI1 is the most divergent of the 3 mammalian GLI transcription factors and lacks a transcriptional repressor domain. Although GLI1 is dispensible for development, the gene is an early transcription...
  • Degradation of GLI2 by the proteasome, organism-specific biosystem (from REACTOME)
    Degradation of GLI2 by the proteasome, organism-specific biosystemThe primary role of the GLI2 protein is as an activator of Hh-dependent signaling upon pathway stimulation; in the absence of Hh ligand, a small fraction of GLI2 appears to be processed to a represso...
  • GLI3 is processed to GLI3R by the proteasome, organism-specific biosystem (from REACTOME)
    GLI3 is processed to GLI3R by the proteasome, organism-specific biosystemIn the absence of Hh signaling, the majority of full-length GLI3 is partially processed by the proteasome to a shorter form that serves as the principal repressor of Hh target genes (Wang et al, 2000...
  • Hedgehog 'off' state, organism-specific biosystem (from REACTOME)
    Hedgehog 'off' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
  • Hedgehog 'on' state, organism-specific biosystem (from REACTOME)
    Hedgehog 'on' state, organism-specific biosystemHedgehog is a secreted morphogen that has evolutionarily conserved roles in body organization by regulating the activity of the Ci/Gli transcription factor family. In Drosophila in the absence of Hh ...
  • Hedgehog Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Hedgehog Signaling Pathway, organism-specific biosystemThe Hedgehog proteins are a family of secreted ligands that include sonic hedgehog, Indian hedgehog and desert hedgehog in humans. Binding of Hedgehog ligands to their receptors, Patched 1 and 2, pre...
  • Hedgehog signaling, organism-specific biosystem (from KEGG)
    Hedgehog signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
  • Hedgehog signaling, conserved biosystem (from KEGG)
    Hedgehog signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
  • Hedgehog signaling events mediated by Gli proteins, organism-specific biosystem (from Pathway Interaction Database)
    Hedgehog signaling events mediated by Gli proteins, organism-specific biosystem
    Hedgehog signaling events mediated by Gli proteins
  • Hedgehog signaling pathway, organism-specific biosystem (from KEGG)
    Hedgehog signaling pathway, organism-specific biosystemThe Hedgehog (Hh) family of secreted signaling proteins plays a crucial role in development of diverse animal phyla, from Drosophila to humans, regulating morphogenesis of a variety of tissues and or...
  • Hedgehog signaling pathway, conserved biosystem (from KEGG)
    Hedgehog signaling pathway, conserved biosystemThe Hedgehog (Hh) family of secreted signaling proteins plays a crucial role in development of diverse animal phyla, from Drosophila to humans, regulating morphogenesis of a variety of tissues and or...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Hedgehog, organism-specific biosystem (from REACTOME)
    Signaling by Hedgehog, organism-specific biosystemHedgehog (Hh) is a secreted morphogen that regulates developmental processes in vertebrates including limb bud formation, neural tube patterning, cell growth and differentiation (reviewed in Hui and ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
beta-catenin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
signal transducer activity TAS
Traceable Author Statement
more info
PubMed 
transcription corepressor activity TAS
Traceable Author Statement
more info
PubMed 
transcription factor binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
aorta development IEA
Inferred from Electronic Annotation
more info
 
coronary vasculature development IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic sequestering of transcription factor IBA
Inferred from Biological aspect of Ancestor
more info
 
heart looping IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
negative regulation of osteoblast differentiation TAS
Traceable Author Statement
more info
PubMed 
negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of sequence-specific DNA binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
negative regulation of smoothened signaling pathway TAS
Traceable Author Statement
more info
PubMed 
negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription factor import into nucleus TAS
Traceable Author Statement
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
neural tube closure IEA
Inferred from Electronic Annotation
more info
 
proteolysis TAS
Traceable Author Statement
more info
PubMed 
regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
skin development IEA
Inferred from Electronic Annotation
more info
 
smoothened signaling pathway involved in spinal cord motor neuron cell fate specification IEA
Inferred from Electronic Annotation
more info
 
smoothened signaling pathway involved in ventral spinal cord interneuron specification IEA
Inferred from Electronic Annotation
more info
 
ventricular septum development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
ciliary base TAS
Traceable Author Statement
more info
 
ciliary tip TAS
Traceable Author Statement
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
primary cilium IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
suppressor of fused homolog

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_001178133.1NP_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)
    AY358550, DA248208
    Consensus CDS
    CCDS53571.1
    UniProtKB/Swiss-Prot
    Q9UMX1
    Related
    ENSP00000358915, OTTHUMP00000020377, ENST00000369899, OTTHUMT00000050092
    Conserved Domains (2) summary
    pfam05076
    Location:63240
    SUFU; Suppressor of fused protein (SUFU)
    pfam12470
    Location:252433
    SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
  2. NM_016169.3NP_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)
    AF159447, AL137465, DA248208
    Consensus CDS
    CCDS7537.1
    UniProtKB/Swiss-Prot
    Q9UMX1
    Related
    ENSP00000358918, OTTHUMP00000020374, ENST00000369902, OTTHUMT00000050089
    Conserved Domains (2) summary
    pfam05076
    Location:63240
    SUFU; Suppressor of fused protein (SUFU)
    pfam12470
    Location:252473
    SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p2 Primary Assembly

    Range
    102502874..102633457
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539863.1XP_011538165.1  

    Conserved Domains (2) summary
    pfam05076
    Location:5182
    SUFU; Suppressor of fused protein (SUFU)
    pfam12470
    Location:195458
    SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
  2. XM_011539859.1XP_011538161.1  

    See identical proteins and their annotated locations for XP_011538161.1

    Conserved Domains (2) summary
    pfam05076
    Location:63240
    SUFU; Suppressor of fused protein (SUFU)
    pfam12470
    Location:253516
    SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
  3. XM_011539858.1XP_011538160.1  

    See identical proteins and their annotated locations for XP_011538160.1

    Conserved Domains (2) summary
    pfam05076
    Location:63240
    SUFU; Suppressor of fused protein (SUFU)
    pfam12470
    Location:253516
    SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
  4. XM_011539860.1XP_011538162.1  

    Conserved Domains (2) summary
    pfam05076
    Location:63240
    SUFU; Suppressor of fused protein (SUFU)
    pfam12470
    Location:252515
    SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
  5. XM_011539864.1XP_011538166.1  

    Conserved Domains (2) summary
    pfam05076
    Location:63240
    SUFU; Suppressor of fused protein (SUFU)
    pfam12470
    Location:253434
    SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
  6. XM_011539861.1XP_011538163.1  

    See identical proteins and their annotated locations for XP_011538163.1

    Conserved Domains (2) summary
    pfam05076
    Location:63240
    SUFU; Suppressor of fused protein (SUFU)
    pfam12470
    Location:253474
    SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
  7. XM_011539862.1XP_011538164.1  

    Conserved Domains (2) summary
    pfam05076
    Location:37214
    SUFU; Suppressor of fused protein (SUFU)
    pfam12470
    Location:227490
    SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain

Alternate CHM1_1.1

Genomic

  1. NC_018921.2 Alternate CHM1_1.1

    Range
    104547179..104677032
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)