Human Gene SPRED1 (ENST00000299084.9_4) from GENCODE V47lift37
  Description: sprouty related EVH1 domain containing 1 (from RefSeq NM_152594.3)
Gencode Transcript: ENST00000299084.9_4
Gencode Gene: ENSG00000166068.13_8
Transcript (Including UTRs)
   Position: hg19 chr15:38,545,037-38,649,450 Size: 104,414 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr15:38,545,387-38,643,865 Size: 98,479 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:38,545,037-38,649,450)mRNA (may differ from genome)Protein (444 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SPRE1_HUMAN
DESCRIPTION: RecName: Full=Sprouty-related, EVH1 domain-containing protein 1; Short=Spred-1; Short=hSpred1;
FUNCTION: Tyrosine kinase substrate that inhibits growth-factor- mediated activation of MAP kinase. Negatively regulates hematopoiesis of bone marrow (By similarity).
SUBUNIT: Interacts with Ras. Interacts with TAOK2 and TESK1 (By similarity). Homodimer and heterodimer. Interacts with CAV1. Able to interact with SPRED2 to form heterodimers.
INTERACTION: P62136:PPP1CA; NbExp=3; IntAct=EBI-5235340, EBI-357253;
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein. Membrane, caveola; Peripheral membrane protein. Nucleus. Note=Localized in cholesterol-rich membrane raft/caveola fractions.
TISSUE SPECIFICITY: Weakly expressed in embryonic cell line HEK293.
PTM: Phosphorylated on tyrosine (By similarity).
DISEASE: Defects in SPRED1 are the cause of neurofibromatosis type 1-like syndrome (NFLS) [MIM:611431]. It is a disorder characterized mainly by cafe au lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1, axillary freckling, and macrocephaly. Additional clinical manifestations include Noonan-like facial dysmorphism, lipomas, learning disabilities and attention deficit-hyperactivity.
SIMILARITY: Contains 1 KBD domain.
SIMILARITY: Contains 1 SPR (sprouty) domain.
SIMILARITY: Contains 1 WH1 domain.
SEQUENCE CAUTION: Sequence=AAH18015.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SPRED1
Diseases sorted by gene-association score: legius syndrome* (1669), neurofibromatosis, type 1 (21), optic disk drusen (11), autosomal dominant café au lait spots (11), piebaldism (10), hypersomnia (7), dyschromatosis universalis hereditaria (6), plexiform neurofibroma (6), cardiofaciocutaneous syndrome (6), pulmonary valve stenosis (5), juvenile myelomonocytic leukemia (5), spastic paraplegia 11, autosomal recessive (5), pulmonary valve disease (5), leopard syndrome (5), noonan syndrome 1 (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.73 RPKM in Thyroid
Total median expression: 277.32 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -173.40350-0.495 Picture PostScript Text
3' UTR -1312.705585-0.235 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000697 - EVH1
IPR023337 - KBD
IPR011993 - PH_like_dom
IPR007875 - Sprouty

Pfam Domains:
PF00568 - WH1 domain
PF05210 - Sprouty protein (Spry)

SCOP Domains:
50729 - PH domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3SYX - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q7Z699
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005173 stem cell factor receptor binding
GO:0005515 protein binding
GO:0019901 protein kinase binding
GO:0019902 phosphatase binding
GO:0030291 protein serine/threonine kinase inhibitor activity

Biological Process:
GO:0000165 MAPK cascade
GO:0000188 inactivation of MAPK activity
GO:0006469 negative regulation of protein kinase activity
GO:0007275 multicellular organism development
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0009966 regulation of signal transduction
GO:0010801 negative regulation of peptidyl-threonine phosphorylation
GO:0010923 negative regulation of phosphatase activity
GO:0016525 negative regulation of angiogenesis
GO:0043408 regulation of MAPK cascade
GO:0043409 negative regulation of MAPK cascade
GO:0043517 positive regulation of DNA damage response, signal transduction by p53 class mediator
GO:0060979 vasculogenesis involved in coronary vascular morphogenesis
GO:0070373 negative regulation of ERK1 and ERK2 cascade
GO:0090051 negative regulation of cell migration involved in sprouting angiogenesis
GO:0090311 regulation of protein deacetylation

Cellular Component:
GO:0005634 nucleus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005901 caveola
GO:0016020 membrane
GO:0031410 cytoplasmic vesicle


-  Descriptions from all associated GenBank mRNAs
  LF205836 - JP 2014500723-A/13339: Polycomb-Associated Non-Coding RNAs.
AK091222 - Homo sapiens cDNA FLJ33903 fis, clone CTONG2008398, weakly similar to VASODILATOR-STIMULATED PHOSPHOPROTEIN.
AX746859 - Sequence 384 from Patent EP1308459.
BC137480 - Homo sapiens sprouty-related, EVH1 domain containing 1, mRNA (cDNA clone MGC:169103 IMAGE:9021480), complete cds.
BC137481 - Homo sapiens sprouty-related, EVH1 domain containing 1, mRNA (cDNA clone MGC:169104 IMAGE:9021481), complete cds.
AY299089 - Homo sapiens SPRED1 mRNA, complete cds.
BC018015 - Homo sapiens sprouty-related, EVH1 domain containing 1, mRNA (cDNA clone IMAGE:4284690), partial cds.
JD071658 - Sequence 52682 from Patent EP1572962.
JD129321 - Sequence 110345 from Patent EP1572962.
JD149871 - Sequence 130895 from Patent EP1572962.
JD409581 - Sequence 390605 from Patent EP1572962.
KJ900343 - Synthetic construct Homo sapiens clone ccsbBroadEn_09737 SPRED1 gene, encodes complete protein.
KR712013 - Synthetic construct Homo sapiens clone CCSBHm_00034699 SPRED1 (SPRED1) mRNA, encodes complete protein.
LF348686 - JP 2014500723-A/156189: Polycomb-Associated Non-Coding RNAs.
LF348688 - JP 2014500723-A/156191: Polycomb-Associated Non-Coding RNAs.
LF348689 - JP 2014500723-A/156192: Polycomb-Associated Non-Coding RNAs.
LF348690 - JP 2014500723-A/156193: Polycomb-Associated Non-Coding RNAs.
AK095219 - Homo sapiens cDNA FLJ37900 fis, clone CD34C3000411.
LF348691 - JP 2014500723-A/156194: Polycomb-Associated Non-Coding RNAs.
BX538234 - Homo sapiens mRNA; cDNA DKFZp686C2148 (from clone DKFZp686C2148).
JD314697 - Sequence 295721 from Patent EP1572962.
LF348692 - JP 2014500723-A/156195: Polycomb-Associated Non-Coding RNAs.
JD378672 - Sequence 359696 from Patent EP1572962.
LF348693 - JP 2014500723-A/156196: Polycomb-Associated Non-Coding RNAs.
LF348694 - JP 2014500723-A/156197: Polycomb-Associated Non-Coding RNAs.
JD100192 - Sequence 81216 from Patent EP1572962.
JA215687 - Sequence 24 from Patent EP2310507.
JD350306 - Sequence 331330 from Patent EP1572962.
JD037640 - Sequence 18664 from Patent EP1572962.
LF348695 - JP 2014500723-A/156198: Polycomb-Associated Non-Coding RNAs.
LF348696 - JP 2014500723-A/156199: Polycomb-Associated Non-Coding RNAs.
LF348697 - JP 2014500723-A/156200: Polycomb-Associated Non-Coding RNAs.
JD486810 - Sequence 467834 from Patent EP1572962.
JD562455 - Sequence 543479 from Patent EP1572962.
JD303792 - Sequence 284816 from Patent EP1572962.
LF348698 - JP 2014500723-A/156201: Polycomb-Associated Non-Coding RNAs.
JD496245 - Sequence 477269 from Patent EP1572962.
LF348699 - JP 2014500723-A/156202: Polycomb-Associated Non-Coding RNAs.
JD111562 - Sequence 92586 from Patent EP1572962.
JD304351 - Sequence 285375 from Patent EP1572962.
LF348700 - JP 2014500723-A/156203: Polycomb-Associated Non-Coding RNAs.
LF348701 - JP 2014500723-A/156204: Polycomb-Associated Non-Coding RNAs.
JD435467 - Sequence 416491 from Patent EP1572962.
JD435468 - Sequence 416492 from Patent EP1572962.
JD360657 - Sequence 341681 from Patent EP1572962.
JD308174 - Sequence 289198 from Patent EP1572962.
JD254771 - Sequence 235795 from Patent EP1572962.
BC019653 - Homo sapiens cDNA clone IMAGE:4519018, **** WARNING: chimeric clone ****.
LF348702 - JP 2014500723-A/156205: Polycomb-Associated Non-Coding RNAs.
MA584263 - JP 2018138019-A/156189: Polycomb-Associated Non-Coding RNAs.
MA584265 - JP 2018138019-A/156191: Polycomb-Associated Non-Coding RNAs.
MA584266 - JP 2018138019-A/156192: Polycomb-Associated Non-Coding RNAs.
MA584267 - JP 2018138019-A/156193: Polycomb-Associated Non-Coding RNAs.
MA584268 - JP 2018138019-A/156194: Polycomb-Associated Non-Coding RNAs.
MA584269 - JP 2018138019-A/156195: Polycomb-Associated Non-Coding RNAs.
MA584270 - JP 2018138019-A/156196: Polycomb-Associated Non-Coding RNAs.
MA584271 - JP 2018138019-A/156197: Polycomb-Associated Non-Coding RNAs.
MA584272 - JP 2018138019-A/156198: Polycomb-Associated Non-Coding RNAs.
MA584273 - JP 2018138019-A/156199: Polycomb-Associated Non-Coding RNAs.
MA584274 - JP 2018138019-A/156200: Polycomb-Associated Non-Coding RNAs.
MA584275 - JP 2018138019-A/156201: Polycomb-Associated Non-Coding RNAs.
MA584276 - JP 2018138019-A/156202: Polycomb-Associated Non-Coding RNAs.
MA584277 - JP 2018138019-A/156203: Polycomb-Associated Non-Coding RNAs.
MA584278 - JP 2018138019-A/156204: Polycomb-Associated Non-Coding RNAs.
MA584279 - JP 2018138019-A/156205: Polycomb-Associated Non-Coding RNAs.
MA441413 - JP 2018138019-A/13339: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q7Z699 (Reactome details) participates in the following event(s):

R-HSA-5654510 FGFRL1 binds SPRED1/2
R-HSA-5658438 SPRED dimer binds NF1
R-HSA-5658424 KBTBD7:CUL3:RBX1 ubiquitinates NF1
R-HSA-5658435 RAS GAPs bind RAS:GTP
R-HSA-5658231 RAS GAPs stimulate RAS GTPase activity
R-HSA-5658623 FGFRL1 modulation of FGFR1 signaling
R-HSA-5658442 Regulation of RAS by GAPs
R-HSA-5654736 Signaling by FGFR1
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-190236 Signaling by FGFR
R-HSA-6802949 Signaling by RAS mutants
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-6802957 Oncogenic MAPK signaling
R-HSA-5683057 MAPK family signaling cascades
R-HSA-162582 Signal Transduction
R-HSA-5663202 Diseases of signal transduction
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: B2RPJ8, ENST00000299084.1, ENST00000299084.2, ENST00000299084.3, ENST00000299084.4, ENST00000299084.5, ENST00000299084.6, ENST00000299084.7, ENST00000299084.8, NM_152594, Q05D53, Q7Z699, Q8N256, SPRE1_HUMAN, uc317mhi.1, uc317mhi.2
UCSC ID: ENST00000299084.9_4
RefSeq Accession: NM_152594.3
Protein: Q7Z699 (aka SPRE1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SPRED1:
legius (Legius Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.