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

Gene ID: 51684, updated on 12-Aug-2018

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; 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; 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

Genomic context

See SUFU in Genome Data Viewer
Location:
10q24.32
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (102502801..102633458)
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 Neighboring gene ribosomal protein L23a pseudogene 58 Neighboring gene RNA, U6 small nuclear 43, pseudogene Neighboring gene uncharacterized LOC105378460 Neighboring gene tripartite motif containing 8 Neighboring gene ADP ribosylation factor like GTPase 3

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Gorlin syndrome Compare labs
JOUBERT SYNDROME 32
MedGen: C4540342 OMIM: 617757 GeneReviews: Not available
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

Pathways from BioSystems

  • 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 family of proteins are signaling proteins that are crucial for a number of physiological processes including morphogenesis during development. In adult organisms, it is also involved in ...
  • 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) signaling pathway has numerous roles in the control of cell proliferation, tissue patterning, stem cell maintenance and development. The primary cilium is an important center for tr...
  • Hedgehog signaling pathway, conserved biosystem (from KEGG)
    Hedgehog signaling pathway, conserved biosystemThe Hedgehog (Hh) signaling pathway has numerous roles in the control of cell proliferation, tissue patterning, stem cell maintenance and development. The primary cilium is an important center for tr...
  • 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 ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
transcription corepressor activity TAS
Traceable Author Statement
more info
PubMed 
transcription factor binding IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
heart looping IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
negative regulation of DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
negative regulation of osteoblast differentiation TAS
Traceable Author Statement
more info
PubMed 
negative regulation of protein import into nucleus TAS
Traceable Author Statement
more info
PubMed 
negative regulation of smoothened signaling pathway IMP
Inferred from Mutant Phenotype
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 by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytoplasm NAS
Non-traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
suppressor of fused homolog

NCBI Reference Sequences (RefSeq)

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
    ENSP00000358915.2, OTTHUMP00000020377, ENST00000369899.6, OTTHUMT00000050092
    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_016169.3NP_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
    ENSP00000358918.3, OTTHUMP00000020374, ENST00000369902.7, OTTHUMT00000050089
    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: Homo sapiens 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 GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    102502801..102633458
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539863.3XP_011538165.1  suppressor of fused homolog isoform X5

    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
  2. XM_011539858.3XP_011538160.1  suppressor of fused homolog isoform X1

    See identical proteins and their annotated locations for XP_011538160.1

    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
  3. XM_011539861.3XP_011538163.1  suppressor of fused homolog isoform X4

    See identical proteins and their annotated locations for XP_011538163.1

    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
  4. XM_011539860.3XP_011538162.1  suppressor of fused homolog isoform X2

    UniProtKB/TrEMBL
    A0A223LX15
    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
  5. XM_011539864.3XP_011538166.1  suppressor of fused homolog isoform X6

    Conserved Domains (2) summary
    pfam05076
    Location:68240
    SUFU; Suppressor of fused protein (SUFU)
    pfam12470
    Location:254434
    SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
  6. XM_017016323.1XP_016871812.1  suppressor of fused homolog isoform X3

    Conserved Domains (2) summary
    pfam05076
    Location:42214
    SUFU; Suppressor of fused protein (SUFU)
    pfam12470
    Location:228490
    SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
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