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SPIRE1 (spire type actin nucleation factor 1)

Identity

Alias_namesspire homolog 1 (Drosophila)
spire family actin nucleation factor 1
spire-type actin nucleation factor 1
Alias_symbol (synonym)spir-1
KIAA1135
Other aliasSpir-1
HGNC (Hugo) SPIRE1
LocusID (NCBI) 56907
Atlas_Id 74189
Location 18p11.21  [Link to chromosome band 18p11]
Location_base_pair Starts at 12446512 and ends at 12657913 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ADCK5 (8q24.3) / SPIRE1 (18p11.21)AFG3L2 (18p11.21) / SPIRE1 (18p11.21)SPIRE1 (18p11.21) / CYP27C1 (2q14.3)
SPIRE1 (18p11.21) / SPIRE1 (18p11.21)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SPIRE1   30622
Cards
Entrez_Gene (NCBI)SPIRE1  56907  spire type actin nucleation factor 1
AliasesSpir-1
GeneCards (Weizmann)SPIRE1
Ensembl hg19 (Hinxton)ENSG00000134278 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000134278 [Gene_View]  chr18:12446512-12657913 [Contig_View]  SPIRE1 [Vega]
ICGC DataPortalENSG00000134278
TCGA cBioPortalSPIRE1
AceView (NCBI)SPIRE1
Genatlas (Paris)SPIRE1
WikiGenes56907
SOURCE (Princeton)SPIRE1
Genetics Home Reference (NIH)SPIRE1
Genomic and cartography
GoldenPath hg38 (UCSC)SPIRE1  -     chr18:12446512-12657913 -  18p11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SPIRE1  -     18p11.21   [Description]    (hg19-Feb_2009)
EnsemblSPIRE1 - 18p11.21 [CytoView hg19]  SPIRE1 - 18p11.21 [CytoView hg38]
Mapping of homologs : NCBISPIRE1 [Mapview hg19]  SPIRE1 [Mapview hg38]
OMIM609216   
Gene and transcription
Genbank (Entrez)AB032961 AJ277587 AK025433 AK290180 AK301711
RefSeq transcript (Entrez)NM_001128626 NM_001128627 NM_020148
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SPIRE1
Cluster EST : UnigeneHs.515283 [ NCBI ]
CGAP (NCI)Hs.515283
Alternative Splicing GalleryENSG00000134278
Gene ExpressionSPIRE1 [ NCBI-GEO ]   SPIRE1 [ EBI - ARRAY_EXPRESS ]   SPIRE1 [ SEEK ]   SPIRE1 [ MEM ]
Gene Expression Viewer (FireBrowse)SPIRE1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56907
GTEX Portal (Tissue expression)SPIRE1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ08AE8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ08AE8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ08AE8
Splice isoforms : SwissVarQ08AE8
PhosPhoSitePlusQ08AE8
Domaine pattern : Prosite (Expaxy)KIND (PS51377)   
Domains : Interpro (EBI)KIND_dom    Spire    Spire1    Znf_FYVE_PHD    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)KIND (PF16474)   
Domain families : Pfam (NCBI)pfam16474   
Domain families : Smart (EMBL)KIND (SM00750)  
Conserved Domain (NCBI)SPIRE1
DMDM Disease mutations56907
Blocks (Seattle)SPIRE1
PDB (SRS)2YLE    2YLF    3R7G    3RBW   
PDB (PDBSum)2YLE    2YLF    3R7G    3RBW   
PDB (IMB)2YLE    2YLF    3R7G    3RBW   
PDB (RSDB)2YLE    2YLF    3R7G    3RBW   
Structural Biology KnowledgeBase2YLE    2YLF    3R7G    3RBW   
SCOP (Structural Classification of Proteins)2YLE    2YLF    3R7G    3RBW   
CATH (Classification of proteins structures)2YLE    2YLF    3R7G    3RBW   
SuperfamilyQ08AE8
Human Protein AtlasENSG00000134278
Peptide AtlasQ08AE8
HPRD11600
IPIIPI00171145   IPI00645268   IPI00917940   IPI00917687   IPI00896365   
Protein Interaction databases
DIP (DOE-UCLA)Q08AE8
IntAct (EBI)Q08AE8
FunCoupENSG00000134278
BioGRIDSPIRE1
STRING (EMBL)SPIRE1
ZODIACSPIRE1
Ontologies - Pathways
QuickGOQ08AE8
Ontology : AmiGOactin binding  nucleoplasm  cytosol  cytoskeleton  plasma membrane  cell cortex  protein transport  vesicle-mediated transport  actin cytoskeleton organization  cytoplasmic vesicle membrane  cleavage furrow  cleavage furrow formation  polar body extrusion after meiotic divisions  actin nucleation  intracellular transport  perinuclear region of cytoplasm  establishment of meiotic spindle localization  formin-nucleated actin cable assembly  
Ontology : EGO-EBIactin binding  nucleoplasm  cytosol  cytoskeleton  plasma membrane  cell cortex  protein transport  vesicle-mediated transport  actin cytoskeleton organization  cytoplasmic vesicle membrane  cleavage furrow  cleavage furrow formation  polar body extrusion after meiotic divisions  actin nucleation  intracellular transport  perinuclear region of cytoplasm  establishment of meiotic spindle localization  formin-nucleated actin cable assembly  
Pathways : KEGGDorso-ventral axis formation   
NDEx NetworkSPIRE1
Atlas of Cancer Signalling NetworkSPIRE1
Wikipedia pathwaysSPIRE1
Orthology - Evolution
OrthoDB56907
GeneTree (enSembl)ENSG00000134278
Phylogenetic Trees/Animal Genes : TreeFamSPIRE1
HOVERGENQ08AE8
HOGENOMQ08AE8
Homologs : HomoloGeneSPIRE1
Homology/Alignments : Family Browser (UCSC)SPIRE1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPIRE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPIRE1
dbVarSPIRE1
ClinVarSPIRE1
1000_GenomesSPIRE1 
Exome Variant ServerSPIRE1
ExAC (Exome Aggregation Consortium)SPIRE1 (select the gene name)
Genetic variants : HAPMAP56907
Genomic Variants (DGV)SPIRE1 [DGVbeta]
DECIPHERSPIRE1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSPIRE1 
Mutations
ICGC Data PortalSPIRE1 
TCGA Data PortalSPIRE1 
Broad Tumor PortalSPIRE1
OASIS PortalSPIRE1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPIRE1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSPIRE1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SPIRE1
DgiDB (Drug Gene Interaction Database)SPIRE1
DoCM (Curated mutations)SPIRE1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPIRE1 (select a term)
intoGenSPIRE1
Cancer3DSPIRE1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609216   
Orphanet
MedgenSPIRE1
Genetic Testing Registry SPIRE1
NextProtQ08AE8 [Medical]
TSGene56907
GENETestsSPIRE1
Target ValidationSPIRE1
Huge Navigator SPIRE1 [HugePedia]
snp3D : Map Gene to Disease56907
BioCentury BCIQSPIRE1
ClinGenSPIRE1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56907
Chemical/Pharm GKB GenePA134895885
Clinical trialSPIRE1
Miscellaneous
canSAR (ICR)SPIRE1 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPIRE1
EVEXSPIRE1
GoPubMedSPIRE1
iHOPSPIRE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:40:23 CEST 2017

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