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

Gene ID: 51684, updated on 23-Sep-2022

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; 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
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

See SUFU in Genome Data Viewer
Location:
10q24.32
Exon count:
17
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (102502819..102633535)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (103388959..103518575)
105.20220307 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 major facilitator superfamily domain containing 13A Neighboring gene actin related protein 1A Neighboring gene Sharpr-MPRA regulatory region 236 Neighboring gene ribosomal protein L23a pseudogene 58 Neighboring gene RNA, U6 small nuclear 43, pseudogene Neighboring gene Sharpr-MPRA regulatory region 14384 Neighboring gene Sharpr-MPRA regulatory region 2079 Neighboring gene uncharacterized LOC105378460 Neighboring gene tripartite motif containing 8

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Familial meningioma Compare labs
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

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
enables transcription factor binding IBA
Inferred from Biological aspect of Ancestor
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 cytoplasmic sequestering of transcription factor IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 hh target transcription factor activity IC
Inferred by Curator
more info
 
involved_in negative regulation of hh target transcription factor activity IDA
Inferred from Direct Assay
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of smoothened signaling pathway TAS
Traceable Author Statement
more info
PubMed 
involved_in negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
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 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 dorsal/ventral neural tube patterning 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 ventricular septum development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of GLI-SUFU complex IC
Inferred by Curator
more info
 
part_of GLI-SUFU complex IPI
Inferred from Physical Interaction
more info
PubMed 
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
PubMed 
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
PubMed 
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

Preferred Names
suppressor of fused homolog
Names
negative regulator of hedgehog signaling

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.

Genomic

  1. NG_021338.1 RefSeqGene

    Range
    5001..134496
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_521

mRNA and Protein(s)

  1. NM_001178133.2NP_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/Swiss-Prot
    Q9UMX1
    Related
    ENSP00000358915.2, ENST00000369899.6
    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_016169.4NP_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
    Q9UMX1, Q9UMY0
    Related
    ENSP00000358918.4, ENST00000369902.8
    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 110 details...Open this link in a new tab

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_047425335.1XP_047281291.1  suppressor of fused homolog isoform X1

  2. XM_011539863.4XP_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
  3. XM_047425336.1XP_047281292.1  suppressor of fused homolog isoform X3

  4. XM_047425337.1XP_047281293.1  suppressor of fused homolog isoform X6

  5. XM_047425338.1XP_047281294.1  suppressor of fused homolog isoform X7

  6. XM_011539858.4XP_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
  7. XM_011539861.4XP_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:64240
    SUFU; Suppressor of fused protein (SUFU)
    pfam12470
    Location:254474
    SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
  8. XM_011539860.4XP_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
  9. XM_011539864.3XP_011538166.1  suppressor of fused homolog isoform X9

    Conserved Domains (2) summary
    pfam05076
    Location:64240
    SUFU; Suppressor of fused protein (SUFU)
    pfam12470
    Location:254434
    SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
  10. XM_047425339.1XP_047281295.1  suppressor of fused homolog isoform X8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    103388959..103518575
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)