Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
161742
Gene name Gene Name - the full gene name approved by the HGNC.
Sprouty related EVH1 domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SPRED1
Synonyms (NCBI Gene) Gene synonyms aliases
LGSS, NFLS, PPP1R147, hSpred1, spred-1
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q14
Summary Summary of gene provided in NCBI Entrez Gene.
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 activatio
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs115440602 C>T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs121434312 C>T Pathogenic Coding sequence variant, stop gained
rs121434313 C>T Pathogenic Coding sequence variant, stop gained
rs121434314 C>G,T Pathogenic Missense variant, coding sequence variant, stop gained
rs121434315 C>T Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000343 hsa-miR-126-3p Luciferase reporter assay 18694566
MIRT000343 hsa-miR-126-3p Review 20029422
MIRT004643 hsa-miR-126-5p Review 20029422
MIRT000343 hsa-miR-126-3p Luciferase reporter assay 18832181
MIRT000343 hsa-miR-126-3p Luciferase reporter assay, Western blot 18987025
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005173 Function Stem cell factor receptor binding IEA
GO:0005173 Function Stem cell factor receptor binding ISS
GO:0005515 Function Protein binding IPI 15231748, 19389623, 21900206, 22321011, 24705354, 26635368, 32296183, 32814053
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609291 20249 ENSG00000166068
Protein
UniProt ID Q7Z699
Protein name Sprouty-related, EVH1 domain-containing protein 1 (Spred-1) (hSpred1)
Protein function Tyrosine kinase substrate that inhibits growth-factor-mediated activation of MAP kinase (By similarity). Negatively regulates hematopoiesis of bone marrow (By similarity). Inhibits fibroblast growth factor (FGF)-induced retinal lens fiber differ
PDB 3SYX , 6V65 , 6V6F
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00568 WH1 10 120 WH1 domain Domain
PF05210 Sprouty 332 441 Sprouty protein (Spry) Family
Tissue specificity TISSUE SPECIFICITY: Weakly expressed in embryonic cell line HEK293. {ECO:0000269|PubMed:15580519}.
Sequence
MSEETATSDNDNSYARVRAVVMTRDDSSGGWLPLGGSGLSSVTVFKVPHQEENGCADFFI
RGERLRDKMVVLECMLKKDLIYNKVTPTFHHWKIDDKKFGLTFQSPADARAFDRGIRRAI

EDISQGCPESKNEAEGADDLQANEEDSSSSLVKDHLFQQETVVTSEPYRSSNIRPSPFED
LNARRVYMQSQANQITFGQPGLDIQSRSMEYVQRQISKECGSLKSQNRVPLKSIRHVSFQ
DEDEIVRINPRDILIRRYADYRHPDMWKNDLERDDADSSIQFSKPDSKKSDYLYSCGDET
KLSSPKDSVVFKTQPSSLKIKKSKRRKEDGERSRCVYCQERFNHEENVRGKCQDAPDPIK
RCIYQVSCMLCAESMLYHCMSDSEGDFSDPCSCDTSDDKFCLRWLALVALSFIVPCMCCY
VPLRMCHRCGEACGCCGGKHK
AAG
Sequence length 444
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Regulation of RAS by GAPs
FGFRL1 modulation of FGFR1 signaling
RAS signaling downstream of NF1 loss-of-function variants
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Legius Syndrome legius syndrome rs1595763928, rs1057517941, rs1566867209, rs121434316, rs1595733611, rs1057518683, rs1555391061, rs1566876929, rs121434317, rs1595763662, rs1060502505, rs1555392609, rs1566876895, rs121434318, rs1324903101
View all (33 more)
N/A
Noonan Syndrome Noonan syndrome and Noonan-related syndrome rs1555391053, rs727504170, rs121434312, rs864622410, rs750777752 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Neurofibromatosis-Noonan Syndrome neurofibromatosis-noonan syndrome N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Inhibit 36629984
Bohring syndrome Associate 34121041
Bone Diseases Developmental Associate 32697994
Cafe au Lait Spots Associate 21368769, 26635368, 27322474
Diabetes Mellitus Associate 29942117
Enhanced S Cone Syndrome Associate 36071243
Hepatolenticular Degeneration Associate 36071243
Learning Disabilities Associate 26635368, 27322474
Legius syndrome Associate 19366998, 20179001, 20602485, 21089071, 21368769, 26635368, 27322474, 27503857, 31443423, 32697994, 33663580, 36071243, 40225167
Leukemia Associate 35412895