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

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: BCNS2; 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: mouse all
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Genomic context

Location:: 10q24.32

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (102502819..102633535)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (103387806..103518575)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (104263729..104393292)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.
Title: Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.
WNT5A, betacatenin and SUFU expression patterns, and the significance of microRNA deregulation in placentas with intrauterine growth restriction.
Title: WNT5A, β‑catenin and SUFU expression patterns, and the significance of microRNA deregulation in placentas with intrauterine growth restriction.
ERK2 MAP kinase regulates SUFU binding by multisite phosphorylation of GLI1.
Title: ERK2 MAP kinase regulates SUFU binding by multisite phosphorylation of GLI1.
SUFU mediates EMT and Wnt/beta-catenin signaling pathway activation promoted by miRNA-324-5p in human gastric cancer.
Title: SUFU mediates EMT and Wnt/β-catenin signaling pathway activation promoted by miRNA-324-5p in human gastric cancer.
Sufu negatively regulates both initiations of centrosome duplication and DNA replication.
Title: Sufu negatively regulates both initiations of centrosome duplication and DNA replication.
Differences in RNA and microRNA Expression Between PTCH1- and SUFU-mutated Medulloblastoma.
Title: Differences in RNA and microRNA Expression Between PTCH1- and SUFU-mutated Medulloblastoma.
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
Title: Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
The Twist1-regulated miR-214 promotes the activation of Hepatic stellate cells through targeting Sufu involved in the Hedgehog pathway and participates in the development of hepatic fibrosis. Hence, the knockdown of miR-214 expression may be a promising therapeutic strategy for liver fibrosis.
Title: MicroRNA-214 promotes hepatic stellate cell activation and liver fibrosis by suppressing Sufu expression.
Germline SUFU mutations are associated with medulloblastoma.
Title: Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis.
establishes the dual role of SUFU inSonic Hedgehog medulloblastoma (MB) and provides mechanistic insights into transcriptional regulation underlying Gli2-mediated SHH MB tumorigenesis
Title: Dual Regulatory Functions of SUFU and Targetome of GLI2 in SHH Subgroup Medulloblastoma.

Submit: New GeneRIF Correction See all GeneRIFs (62)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Basal cell nevus syndrome 2 MedGen: C5830451 OMIM: 620343 GeneReviews: Not available	Compare labs
Familial meningioma MedGen: C3551915 OMIM: 607174 GeneReviews: MN1 C-Terminal Truncation 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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-W86982 (e-PCR)
- UniSTS:1063

SHGC-148076 (e-PCR)
- UniSTS:176181

G17424 (e-PCR)
- UniSTS:43117

SHGC-146455 (e-PCR)
- UniSTS:175230

D10S1697 (e-PCR), detects polymorphism
- UniSTS:50341

RH93916 (e-PCR)
- UniSTS:87724

SHGC-148339 (e-PCR)
- UniSTS:172982

D10S1267 (e-PCR), detects polymorphism
- UniSTS:14793

G17444 (e-PCR)
- UniSTS:16864

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

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 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 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	IBA Inferred from Biological aspect of Ancestor more info
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
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 positive regulation of cellular response to drug	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity 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 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 spermatid development	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	IPI Inferred from Physical Interaction more info	PubMed
part_of GLI-SUFU complex	ISS Inferred from Sequence or Structural Similarity more info
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
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
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

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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

NG_021338.1 RefSeqGene

Range

5001..134496

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_521

mRNA and Protein(s)

NM_001178133.2 → NP_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/TrEMBL

B2R5U4

Related

ENSP00000358915.2, ENST00000369899.6

Conserved Domains (2) summary

pfam05076
Location:64 → 240

SUFU; Suppressor of fused protein (SUFU)

pfam12470
Location:253 → 433

SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
NM_016169.4 → NP_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

Q7LCP7, Q9NT90, Q9NZ07, Q9UHK2, Q9UHM8, Q9UMX1, Q9UMY0

UniProtKB/TrEMBL

B2R5U4

Related

ENSP00000358918.4, ENST00000369902.8

Conserved Domains (2) summary

pfam05076
Location:64 → 240

SUFU; Suppressor of fused protein (SUFU)

pfam12470
Location:253 → 473

SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

102502819..102633535

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047425335.1 → XP_047281291.1 suppressor of fused homolog isoform X1
XM_011539863.4 → XP_011538165.1 suppressor of fused homolog isoform X5

UniProtKB/TrEMBL

B2R5U4

Conserved Domains (2) summary

pfam05076
Location:10 → 182

SUFU; Suppressor of fused protein (SUFU)

pfam12470
Location:196 → 458

SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
XM_047425336.1 → XP_047281292.1 suppressor of fused homolog isoform X3
XM_047425337.1 → XP_047281293.1 suppressor of fused homolog isoform X6
XM_047425338.1 → XP_047281294.1 suppressor of fused homolog isoform X7
XM_011539858.4 → XP_011538160.1 suppressor of fused homolog isoform X1

See identical proteins and their annotated locations for XP_011538160.1

UniProtKB/TrEMBL

B2R5U4

Conserved Domains (2) summary

pfam05076
Location:68 → 240

SUFU; Suppressor of fused protein (SUFU)

pfam12470
Location:254 → 516

SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
XM_011539861.4 → XP_011538163.1 suppressor of fused homolog isoform X4

See identical proteins and their annotated locations for XP_011538163.1

UniProtKB/TrEMBL

B2R5U4

Conserved Domains (2) summary

pfam05076
Location:64 → 240

SUFU; Suppressor of fused protein (SUFU)

pfam12470
Location:254 → 474

SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
XM_011539860.4 → XP_011538162.1 suppressor of fused homolog isoform X2

UniProtKB/TrEMBL

A0A223LX15, B2R5U4

Conserved Domains (2) summary

pfam05076
Location:64 → 240

SUFU; Suppressor of fused protein (SUFU)

pfam12470
Location:253 → 515

SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
XM_011539864.3 → XP_011538166.1 suppressor of fused homolog isoform X9

UniProtKB/TrEMBL

B2R5U4

Conserved Domains (2) summary

pfam05076
Location:64 → 240

SUFU; Suppressor of fused protein (SUFU)

pfam12470
Location:254 → 434

SUFU_C; Suppressor of Fused Gli/Ci N terminal binding domain
XM_047425339.1 → XP_047281295.1 suppressor of fused homolog isoform X8

Alternate T2T-CHM13v2.0

Genomic

NC_060934.1 Alternate T2T-CHM13v2.0

Range

103387806..103518575

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054366064.1 → XP_054222039.1 suppressor of fused homolog isoform X1
XM_054366068.1 → XP_054222043.1 suppressor of fused homolog isoform X5
XM_054366066.1 → XP_054222041.1 suppressor of fused homolog isoform X3
XM_054366069.1 → XP_054222044.1 suppressor of fused homolog isoform X6
XM_054366070.1 → XP_054222045.1 suppressor of fused homolog isoform X7
XM_054366063.1 → XP_054222038.1 suppressor of fused homolog isoform X1
XM_054366067.1 → XP_054222042.1 suppressor of fused homolog isoform X4
XM_054366065.1 → XP_054222040.1 suppressor of fused homolog isoform X2

UniProtKB/TrEMBL

A0A223LX15
XM_054366072.1 → XP_054222047.1 suppressor of fused homolog isoform X9
XM_054366071.1 → XP_054222046.1 suppressor of fused homolog isoform X8