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SPRED1 (sprouty related EVH1 domain containing 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
161742
Gene nameGene Name - the full gene name approved by the HGNC.
Sprouty related EVH1 domain containing 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SPRED1
SynonymsGene synonyms aliases
LGSS, NFLS, PPP1R147, hSpred1, spred-1
ChromosomeChromosome number
15
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q14
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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:0000165 Process MAPK cascade TAS
GO:0000188 Process Inactivation of MAPK activity IBA 21873635
GO:0000188 Process Inactivation of MAPK activity ISS
GO:0005173 Function Stem cell factor receptor binding ISS
GO:0005515 Function Protein binding IPI 15231748, 19389623, 21900206, 22321011, 24705354, 26635368, 32296183, 32814053
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MSEETATSDNDNSYARVRAVVMTRDDSSGGWLPLGGSGLSSVTVFKVPHQEENGCADFFI
RGERLRDKMVVLECMLKKDLIYNKVTPTFHHWKIDDKKFGLTFQSPADARAFDRGIRRAI

EDISQGCPESKNEAEGADDLQANEEDSSSSLVKDHLFQQETVVTSEPYRSSNIRPSPFED
LNARRVYMQSQANQITFGQPGLDIQSRSMEYVQRQISKECGSLKSQNRVPLKSIRHVSFQ
DEDEIVRINPRDILIRRYADYRHPDMWKNDLERDDADSSIQFSKPDSKKSDYLYSCGDET
KLSSPKDSVVFKTQPSSLKIKKSKRRKEDGERSRCVYCQERFNHEENVRGKCQDAPDPIK
RCIYQVSCMLCAESMLYHCMSDSEGDFSDPCSCDTSDDKFCLRWLALVALSFIVPCMCCY
VPLRMCHRCGEACGCCGGKHK
AAG
Sequence length 444
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Regulation of RAS by GAPs
FGFRL1 modulation of FGFR1 signaling
RAS signaling downstream of NF1 loss-of-function variants
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anencephaly Cranioschisis rs773607884 17704776
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs120074176, rs786205019
Legius syndrome Legius syndrome rs121434312, rs121434313, rs1566868058, rs121434314, rs121434315, rs121434316, rs121434317, rs121434318, rs1566876941, rs148646547, rs727504170, rs864622410, rs878855228, rs1057517941, rs1057518683, rs1060502505, rs1555392791, rs1555392759, rs1555392783, rs1555391161, rs754706111, rs750777752, rs1555391053, rs1555391061, rs1555392609, rs1555386649, rs1555386651, rs1555386654, rs1555389690, rs1555392750, rs1566867246, rs1566868022, rs1566876954, rs1566867209, rs1566876929, rs1566876895, rs1566876690, rs1595746858, rs1595763659, rs1595746834, rs1595763557, rs1595763656, rs1595763925, rs1595763928, rs1595733611, rs1595763662, rs1324903101, rs1895677481
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557
Unknown
Disease name Disease term dbSNP ID References
Cafe-au-lait macules with pulmonary stenosis Cafe-au-lait macules with pulmonary stenosis 17704776
Congenital epicanthus Congenital Epicanthus
Drachtman weinblatt sitarz syndrome Congenital neurologic anomalies 17704776
Dysmorphic features Dysmorphic features 19366998, 19920235, 21548021, 17704776, 21495177, 3128965, 22753041, 21649642, 20179001, 21089071, 11493923, 19443465, 24334617, 20339110

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