Gene Gene information from NCBI Gene database.
Entrez ID 161742
Gene name Sprouty related EVH1 domain containing 1
Gene symbol SPRED1
Synonyms (NCBI Gene)
LGSSNFLSPPP1R147hSpred1spred-1
Chromosome 15
Chromosome location 15q14
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 activatio
SNPs SNP information provided by dbSNP.
47
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.
872
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 assayWestern blot 18987025
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609291 20249 ENSG00000166068
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cardiovascular phenotype Pathogenic; Likely pathogenic rs121434312, rs2542742614, rs2542743815, rs2542744037, rs864622410, rs1057517941, rs1057518150, rs1057518683, rs1566876941, rs1566867209, rs1595763925 RCV002336072
RCV002416682
RCV002419574
RCV006342577
RCV004992078
View all (6 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Incidental Discovery Pathogenic rs750777752 RCV005438016
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Legius syndrome Pathogenic; Likely pathogenic rs1595733611, rs764823722, rs1888473716, rs2141016108, rs755557783, rs2141016685, rs1895105626, rs2141016500, rs2141016462, rs1172820756, rs2140978331, rs2141016692, rs2141016437, rs2141014847, rs2140943462
View all (93 more)
RCV001379509
RCV001385557
RCV001388493
RCV001380648
RCV001386578
View all (107 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Male infertility with spermatogenesis disorder Likely pathogenic; Pathogenic rs1057518683 RCV003991577
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CAFE-AU-LAIT SPOTS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Costello syndrome Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
DESBUQUOIS SYNDROME CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Bohring syndrome Bohring syndrome Pubtator 34121041 Associate
★☆☆☆☆
Found in Text Mining only
Bone Diseases Developmental Bone disease Pubtator 32697994 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29685157
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Cafe-au-lait macules with pulmonary stenosis Cafe-Au-Lait Macules With Pulmonary Stenosis CTD_human_DG 17704776
★☆☆☆☆
Found in Text Mining only
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder) Capillary Malformation-Arteriovenous Malformation BEFREE 28643916
★☆☆☆☆
Found in Text Mining only
Chronic myeloproliferative disorder Myeloproliferative disorder BEFREE 29706577
★☆☆☆☆
Found in Text Mining only
Congenital Epicanthus Congenital Epicanthus HPO_DG
★☆☆☆☆
Found in Text Mining only