SPRED1 sprouty related EVH1 domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPRED1provided by HGNC
Official Full Name: sprouty related EVH1 domain containing 1provided by HGNC
Primary source: HGNC:HGNC:20249
See related: Ensembl:ENSG00000166068 MIM:609291; AllianceGenome:HGNC:20249
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: LGSS; NFLS; hSpred1; spred-1; PPP1R147
Summary: The protein encoded by this gene is a member of the Sprouty family of proteins and is phosphorylated by tyrosine kinase in response to several growth factors. The encoded protein can act as a homodimer or as a heterodimer with SPRED2 to regulate activation of the MAP kinase cascade. Defects in this gene are a cause of neurofibromatosis type 1-like syndrome (NFLS). [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 21.9), brain (RPKM 13.6) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q14

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (38252836..38357249)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (36058115..36162546)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (38545037..38649450)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Long noncoding RNA LOC646029 functions as a ceRNA to suppress ovarian cancer progression through the miR-627-3p/SPRED1 axis.
Title: Long noncoding RNA LOC646029 functions as a ceRNA to suppress ovarian cancer progression through the miR-627-3p/SPRED1 axis.
SPOCK2 and SPRED1 function downstream of EZH2 to impede the malignant progression of lung adenocarcinoma in vitro and in vivo.
Title: SPOCK2 and SPRED1 function downstream of EZH2 to impede the malignant progression of lung adenocarcinoma in vitro and in vivo.
SPRED1 deletion confers resistance to MAPK inhibition in melanoma.
Title: SPRED1 deletion confers resistance to MAPK inhibition in melanoma.
A Study on the Expression of SPRED1 and PBRM1 (Baf180) and their Clinical Significances in Patients with Gastric Cancer.
Title: A Study on the Expression of SPRED1 and PBRM1 (Baf180) and their Clinical Significances in Patients with Gastric Cancer.
Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype?
Title: Moyamoya syndrome in a child with Legius syndrome: Introducing a cerebral vasculopathy to the SPRED1 phenotype?
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.
Title: Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.
Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.
Title: Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene Mutations by Targeted NGS in an Italian Cohort of Suspected NF1 Patients.
These data provide structural insight into the interaction of Spred1 and neurofibromin.
Title: Pathogenic Mutations Associated with Legius Syndrome Modify the Spred1 Surface and Are Involved in Direct Binding to the Ras Inactivator Neurofibromin.
SPRED1 is down-regulated by E2 and negatively correlated to ER status in BC cells. SPRED1 was a new direct target of miR-196a which participated in miR-196a-promoted BC development and was suppressed by ligand-activated ER-alpha signal pathway.
Title: Estrogen-induced miR-196a elevation promotes tumor growth and metastasis via targeting SPRED1 in breast cancer.
Aberrant methylation statuses of the SPRED1 promoter regions are associated with the downregulation of gene transcription in acute myeloid leukemia.
Title: A Pilot Study of Aberrant CpG Island Hypermethylation of SPRED1 in Acute Myeloloid Leukemia.

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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
Legius syndrome MedGen: C1969623 OMIM: 611431 GeneReviews: Legius Syndrome	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2013-03-14) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2013-03-14) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. 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

REN61523 (e-PCR)
- UniSTS:386323

RH104263 (e-PCR)
- UniSTS:98588

NoName (e-PCR)
- UniSTS:490015

SPRED1__5300 (e-PCR)
- UniSTS:463907

WI-14940 (e-PCR)
- UniSTS:5676

STS-AA026390 (e-PCR)
- UniSTS:3929

RH36905 (e-PCR)
- UniSTS:87932

Spred1 (e-PCR), detects polymorphism
- UniSTS:528299

NoName (e-PCR)
- UniSTS:483534

Spred1 (e-PCR), detects polymorphism
- UniSTS:547837

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables phosphatase binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine kinase inhibitor activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables stem cell factor receptor binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in negative regulation of ERK1 and ERK2 cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of ERK1 and ERK2 cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell migration involved in sprouting angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of epithelial to mesenchymal transition	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of lens fiber cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of peptidyl-threonine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA damage response, signal transduction by p53 class mediator	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of MAPK cascade	TAS Traceable Author Statement more info	PubMed
involved_in regulation of protein deacetylation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in vasculogenesis involved in coronary vascular morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in caveola	IEA Inferred from Electronic Annotation more info
colocalizes_with cytoplasmic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay 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 plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: sprouty-related, EVH1 domain-containing protein 1

Names: protein phosphatase 1, regulatory subunit 147; suppressor of Ras/MAPK activation

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_008980.1 RefSeqGene

Range

4986..109399

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_152594.3 → NP_689807.1 sprouty-related, EVH1 domain-containing protein 1

See identical proteins and their annotated locations for NP_689807.1

Status: REVIEWED

Source sequence(s)

AC069381, AY299089, DA405650

Consensus CDS

CCDS32193.1

UniProtKB/Swiss-Prot

B2RPJ8, Q05D53, Q7Z699, Q8N256

Related

ENSP00000299084.4, ENST00000299084.9

Conserved Domains (2) summary

cd10574
Location:13 → 125

EVH1_SPRED-like; Sprouty-related EVH1 domain-containing-like proteins EVH1 domain

pfam05210
Location:333 → 428

Sprouty; Sprouty protein (Spry)

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_000015.10 Reference GRCh38.p14 Primary Assembly

Range

38252836..38357249

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047432199.1 → XP_047288155.1 sprouty-related, EVH1 domain-containing protein 1 isoform X2
XM_047432200.1 → XP_047288156.1 sprouty-related, EVH1 domain-containing protein 1 isoform X2
XM_005254202.4 → XP_005254259.1 sprouty-related, EVH1 domain-containing protein 1 isoform X1

Conserved Domains (2) summary

cd10574
Location:25 → 137

EVH1_SPRED-like; Sprouty-related EVH1 domain-containing-like proteins EVH1 domain

pfam05210
Location:345 → 440

Sprouty; Sprouty protein (Spry)
XM_047432201.1 → XP_047288157.1 sprouty-related, EVH1 domain-containing protein 1 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

36058115..36162546

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054377382.1 → XP_054233357.1 sprouty-related, EVH1 domain-containing protein 1 isoform X2
XM_054377383.1 → XP_054233358.1 sprouty-related, EVH1 domain-containing protein 1 isoform X2
XM_054377381.1 → XP_054233356.1 sprouty-related, EVH1 domain-containing protein 1 isoform X1