Gene: SPRY1

Basic information

Tag Content
Uniprot ID O43609; D3DNX6; Q6PNE0;
Entrez ID 10252
Genbank protein ID AAH63856.1; EAX05209.1; AAP20102.1; EAX05210.1; EAX05211.1; AAC39566.1; AAT06102.1;
Genbank nucleotide ID NM_005841.2; NM_001258038.1; XM_017007635.1; NM_001258039.1; NM_199327.2; XM_005262686.1;
Ensembl protein ID ENSP00000480540; ENSP00000481675; ENSP00000377871; ENSP00000498292; ENSP00000343785;
Ensembl nucleotide ID ENSG00000164056
Gene name Protein sprouty homolog 1
Gene symbol SPRY1
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 28232668
Functional description Inhibits fibroblast growth factor (FGF)-induced retinal lens fiber differentiation, probably by inhibiting FGF-mediated phosphorylation of ERK1/2 (By similarity). Inhibits TGFB-induced epithelial-to-mesenchymal transition in lens epithelial cells (By similarity).
Sequence
MDPQNQHGSG SSLVVIQQPS LDSRQRLDYE REIQPTAILS LDQIKAIRGS NEYTEGPSVV 60
KRPAPRTAPR QEKHERTHEI IPINVNNNYE HRHTSHLGHA VLPSNARGPI LSRSTSTGSA 120
ASSGSNSSAS SEQGLLGRSP PTRPVPGHRS ERAIRTQPKQ LIVDDLKGSL KEDLTQHKFI 180
CEQCGKCKCG ECTAPRTLPS CLACNRQCLC SAESMVEYGT CMCLVKGIFY HCSNDDEGDS 240
YSDNPCSCSQ SHCCSRYLCM GAMSLFLPCL LCYPPAKGCL KLCRRCYDWI HRPGCRCKNS 300
NTVYCKLESC PSRGQGKPS 319

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 in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

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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Disease or phenotype associated information

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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 orientationIEA
GO:0001656 metanephros developmentIEA
GO:0001657 ureteric bud developmentIEA
GO:0001759 organ inductionIEA
GO:0008285 negative regulation of cell population proliferationIEA
GO:0034260 negative regulation of GTPase activityIEA
GO:0040037 negative regulation of fibroblast growth factor receptor signaling pathwayIMP
GO:0040037 negative regulation of fibroblast growth factor receptor signaling pathwayIBA
GO:0042059 negative regulation of epidermal growth factor receptor signaling pathwayTAS
GO:0043407 negative regulation of MAP kinase activityIBA
GO:0046580 negative regulation of Ras protein signal transductionIBA
GO:0048513 animal organ developmentIBA
GO:0051387 negative regulation of neurotrophin TRK receptor signaling pathwayIEA
GO:0060449 bud elongation involved in lung branchingIEA
GO:0060940 epithelial to mesenchymal transition involved in cardiac fibroblast developmentISS
GO:0070373 negative regulation of ERK1 and ERK2 cascadeISS

GO:Cellular Component

GO ID GO Term Evidence
GO:0005623 cellIEA
GO:0005654 nucleoplasmIDA
GO:0005794 Golgi apparatusIDA
GO:0005829 cytosolISS
GO:0005829 cytosolIDA
GO:0005829 cytosolIBA
GO:0005829 cytosolTAS
GO:0005886 plasma membraneTAS

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-162582 Signal TransductionTAS
R-HSA-177929 Signaling by EGFRTAS
R-HSA-182971 EGFR downregulationTAS
R-HSA-9006934 Signaling by Receptor Tyrosine KinasesTAS

Drugs and compounds information

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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