Gene: Spry1

Basic information

Tag Content
Uniprot ID Q9QXV9
Entrez ID 24063
Genbank protein ID AAH53428.1; AAD56004.1; AAH69914.1;
Genbank nucleotide ID NM_001305442.1; NM_001305441.1; NM_001305440.1; NM_011896.3;
Ensembl protein ID ENSMUSP00000103744; ENSMUSP00000049292; ENSMUSP00000103742;
Ensembl nucleotide ID ENSMUSG00000037211
Gene name Protein sprouty homolog 1
Gene symbol Spry1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage E14.5, E16.5
Data sources Manually collected
Reference 20459789; 22674535;
Functional description Inhibits fibroblast growth factor (FGF)-induced retinal lens fiber differentiation, probably by inhibiting FGF-mediated phosphorylation of ERK1/2 (PubMed:29501879). Inhibits TGFB-induced epithelial-to-mesenchymal transition in lens epithelial cells (PubMed:25576668).
Sequence
MDSPSQHGSH TSLVVIQPPA VEGRQRLDYD RDTQPATILS LDQIKAIRGS NEYTEGPSVA 60
RRPAPRTAPR PEKQERTHEI IPANVNSSYE HRPASHPGNA RGSVLSRSTS TGSAASSGSS 120
SSVSSEQGLL GRSPPTRPIP GHRSDRVIRT QPKQLLVEDL KASLKEDPTQ HKFICEQCGK 180
CKCGECTAPR ALPSCLACDR QCLCSAESMV EYGTCMCLVK GIFYHCSNDD DGGSYSDNPC 240
SCSQSHCCSR YLCMGALSLC LPCLLCYPPA KGCLKLCRGC YDWTHRPGCR CRNSNTVYCK 300
LESCPSRAQG KLS 313

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

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Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologSPRY1507095A6QLQ1Bos taurusPredictionMore>>
1:1 orthologSPRY110252O43609Homo sapiensPublicationMore>>
1:1 orthologSpry124063Q9QXV9CPOE14.5, E16.5Mus musculusPublicationMore>>
1:1 orthologSPRY1461476H2QQ50Pan troglodytesPredictionMore>>
1:1 orthologSPRY1100623283F1RRA2Sus scrofaPredictionMore>>
1:1 orthologSPRY1100357926G1T8D0Oryctolagus cuniculusPredictionMore>>
1:1 orthologSpry1B5DFH3Rattus norvegicusPredictionMore>>
1:1 orthologspry1798229B1PBZ7Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
SPRY1rs908822G>AGWAS28232668

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005515 protein bindingIPI

GO:Biological Process

GO ID GO Term Evidence
GO:0000132 establishment of mitotic spindle orientationIGI
GO:0001656 metanephros developmentIGI
GO:0001657 ureteric bud developmentIGI
GO:0001657 ureteric bud developmentIMP
GO:0001759 organ inductionIMP
GO:0008285 negative regulation of cell population proliferationIDA
GO:0034260 negative regulation of GTPase activityIDA
GO:0040037 negative regulation of fibroblast growth factor receptor signaling pathwayIDA
GO:0040037 negative regulation of fibroblast growth factor receptor signaling pathwayIBA
GO:0043407 negative regulation of MAP kinase activityIDA
GO:0043407 negative regulation of MAP kinase activityIBA
GO:0046580 negative regulation of Ras protein signal transductionIDA
GO:0046580 negative regulation of Ras protein signal transductionIBA
GO:0048513 animal organ developmentIBA
GO:0051387 negative regulation of neurotrophin TRK receptor signaling pathwayIDA
GO:0060449 bud elongation involved in lung branchingIGI
GO:0060940 epithelial to mesenchymal transition involved in cardiac fibroblast developmentIEA
GO:0070373 negative regulation of ERK1 and ERK2 cascadeIDA
GO:0070373 negative regulation of ERK1 and ERK2 cascadeIMP
GO:0070373 negative regulation of ERK1 and ERK2 cascadeIGI

GO:Cellular Component

GO ID GO Term Evidence
GO:0005623 cellIEA
GO:0005654 nucleoplasmISO
GO:0005794 Golgi apparatusISO
GO:0005829 cytosolISO
GO:0005829 cytosolIBA
GO:0016020 membraneIEA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-162582 Signal TransductionIEA
R-MMU-177929 Signaling by EGFRIEA
R-MMU-182971 EGFR downregulationIEA
R-MMU-9006934 Signaling by Receptor Tyrosine KinasesIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0007 Acetylation
KW-0963 Cytoplasm
KW-0217 Developmental protein
KW-0472 Membrane
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR007875 Sprouty
IPR030783 SPRY1

PROSITE

PROSITE ID PROSITE Term
PS51227 SPR

Pfam

Pfam ID Pfam Term
PF05210 Sprouty

Protein-protein interaction

Protein-miRNA interaction