Human Gene SPIRE1 (ENST00000409402.9_9) from GENCODE V47lift37
  Description: spire type actin nucleation factor 1, transcript variant 1 (from RefSeq NM_001128626.2)
Gencode Transcript: ENST00000409402.9_9
Gencode Gene: ENSG00000134278.16_15
Transcript (Including UTRs)
   Position: hg19 chr18:12,446,511-12,658,106 Size: 211,596 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg19 chr18:12,449,637-12,657,865 Size: 208,229 Coding Exon Count: 17 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:12,446,511-12,658,106)mRNA (may differ from genome)Protein (756 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SPIR1_HUMAN
DESCRIPTION: RecName: Full=Protein spire homolog 1; Short=Spir-1;
FUNCTION: Acts as a actin nucleation factor, remains associated with the slow-growing pointed end of the new filament. Involved in vesicle transport processes providing a novel link between actin organization and intracellular transport.
INTERACTION: P27348:YWHAQ; NbExp=1; IntAct=EBI-1055655, EBI-359854;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cytoplasm, perinuclear region. Note=Punctate spots in perinuclear region and cytoplasm, co-localised with Rab11.
DOMAIN: Binds to actin monomers via the WH2 domain (By similarity).
DOMAIN: The Spir-box targets binding to intracellular membrane structures.
SIMILARITY: Belongs to the spire family.
SIMILARITY: Contains 1 KIND domain.
SIMILARITY: Contains 2 WH2 domains.
SEQUENCE CAUTION: Sequence=AAI15006.1; Type=Erroneous initiation; Sequence=AAI25207.1; Type=Erroneous initiation; Sequence=AAI25208.1; Type=Erroneous initiation; Sequence=BAA86449.2; Type=Erroneous initiation;

-  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: SPIRE1
Diseases sorted by gene-association score: smallpox (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 20.65 RPKM in Nerve - Tibial
Total median expression: 441.97 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 -126.20241-0.524 Picture PostScript Text
3' UTR -826.903126-0.265 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
IPR011019 - KIND
IPR011011 - Znf_FYVE_PHD

Pfam Domains:
PF16474 - Kinase non-catalytic C-lobe domain

SCOP Domains:
57903 - FYVE/PHD zinc finger

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2YLE - X-ray MuPIT 2YLF - X-ray MuPIT 3R7G - X-ray MuPIT 3RBW - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q08AE8
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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 Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding

Biological Process:
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0030036 actin cytoskeleton organization
GO:0036089 cleavage furrow formation
GO:0040038 polar body extrusion after meiotic divisions
GO:0045010 actin nucleation
GO:0046907 intracellular transport
GO:0051295 establishment of meiotic spindle localization
GO:0070649 formin-nucleated actin cable assembly

Cellular Component:
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005938 cell cortex
GO:0016020 membrane
GO:0030659 cytoplasmic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0048471 perinuclear region of cytoplasm
GO:0032154 cleavage furrow


-  Descriptions from all associated GenBank mRNAs
  AB032961 - Homo sapiens KIAA1135 mRNA for KIAA1135 protein.
BC115005 - Homo sapiens spire homolog 1 (Drosophila), mRNA (cDNA clone MGC:131569 IMAGE:7782242), complete cds.
AK301711 - Homo sapiens cDNA FLJ57642 complete cds, highly similar to Homo sapiens spire homolog 1 (SPIRE1), mRNA.
AL833817 - Homo sapiens mRNA; cDNA DKFZp434O034 (from clone DKFZp434O034).
KJ902916 - Synthetic construct Homo sapiens clone ccsbBroadEn_12310 SPIRE1 gene, encodes complete protein.
AB384121 - Synthetic construct DNA, clone: pF1KSDA1135, Homo sapiens SPIRE1 gene for spire homolog 1, complete cds, without stop codon, in Flexi system.
AJ277587 - Homo sapiens partial mRNA for Spir-1 protein (Spir-1 gene).
BC125206 - Homo sapiens spire homolog 1 (Drosophila), mRNA (cDNA clone MGC:150621 IMAGE:40123468), complete cds.
BC125207 - Homo sapiens spire homolog 1 (Drosophila), mRNA (cDNA clone MGC:150622 IMAGE:40123469), complete cds.
BC016825 - Homo sapiens spire homolog 1 (Drosophila), mRNA (cDNA clone IMAGE:4108430), complete cds.
AK290180 - Homo sapiens cDNA FLJ76236 complete cds, highly similar to Homo sapiens spire homolog 1 (Drosophila) (SPIRE1), mRNA.
JD089762 - Sequence 70786 from Patent EP1572962.
JD553984 - Sequence 535008 from Patent EP1572962.
JD519723 - Sequence 500747 from Patent EP1572962.
JD196225 - Sequence 177249 from Patent EP1572962.
JD289510 - Sequence 270534 from Patent EP1572962.
JD219198 - Sequence 200222 from Patent EP1572962.
JD358618 - Sequence 339642 from Patent EP1572962.
JD297310 - Sequence 278334 from Patent EP1572962.
AK025433 - Homo sapiens cDNA: FLJ21780 fis, clone HEP00215.
JD404199 - Sequence 385223 from Patent EP1572962.
JD075219 - Sequence 56243 from Patent EP1572962.
JD566041 - Sequence 547065 from Patent EP1572962.
JD550516 - Sequence 531540 from Patent EP1572962.
JD550658 - Sequence 531682 from Patent EP1572962.
JD359997 - Sequence 341021 from Patent EP1572962.
JD528587 - Sequence 509611 from Patent EP1572962.
JD412944 - Sequence 393968 from Patent EP1572962.
JD192205 - Sequence 173229 from Patent EP1572962.
JD103713 - Sequence 84737 from Patent EP1572962.
JD411731 - Sequence 392755 from Patent EP1572962.
JD521375 - Sequence 502399 from Patent EP1572962.
JD487643 - Sequence 468667 from Patent EP1572962.
JD093202 - Sequence 74226 from Patent EP1572962.
JD408650 - Sequence 389674 from Patent EP1572962.
JD103744 - Sequence 84768 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K2B5, ENST00000409402.1, ENST00000409402.2, ENST00000409402.3, ENST00000409402.4, ENST00000409402.5, ENST00000409402.6, ENST00000409402.7, ENST00000409402.8, J3KQ50, J3KQR5, KIAA1135, NM_001128626, Q08AE8, Q1RMD4, Q8NDP1, Q9NQ71, Q9ULT4, SPIR1, SPIR1_HUMAN, SPIRE1 , uc319frg.1, uc319frg.2
UCSC ID: ENST00000409402.9_9
RefSeq Accession: NM_001128626.2
Protein: Q08AE8 (aka SPIR1_HUMAN)

-  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.