SPIRE1 - spire type actin nucleation factor 1 Gene

Also Known as Spir-1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 56907

About SPIRE1

Cytogenetic location: 18p11.21 Genomic coordinates (GRCh38): 18:12,446,512-12,662,091 (from NCBI)

This gene has 13 transcripts (splice variants), 291 orthologues and 1 paralogue. Broad expression in brain (RPKM 20.7), testis (RPKM 14.2) and 22 other tissues.

Summary

Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008]

SPIRE1 Products (6)

mRNA Protein Name
NM_001128626.2 NP_001122098.1 protein spire homolog 1 isoform a
NM_001128627.1 NP_001122099.1 protein spire homolog 1 isoform c
NM_001394323.1 NP_001381252.1 protein spire homolog 1 isoform d
NM_001394324.1 NP_001381253.1 protein spire homolog 1 isoform e
NM_001394325.1 NP_001381254.1 protein spire homolog 1 isoform f
NM_020148.3 NP_064533.3 protein spire homolog 1 isoform b

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence References Source
involved in actin cytoskeleton organization IMP
IMP: Inferred from mutant phenotype
21620703 GOA
involved in establishment of meiotic spindle localization IMP
IMP: Inferred from mutant phenotype
21620703 GOA
involved in formin-nucleated actin cable assembly IMP
IMP: Inferred from mutant phenotype
26287480 GOA
involved in positive regulation of double-strand break repair IMP
IMP: Inferred from mutant phenotype
26287480 GOA
involved in positive regulation of mitochondrial fission IMP
IMP: Inferred from mutant phenotype
26305500 GOA
Cellular Component GO Annotation Evidence References Source
located in mitochondrial outer membrane IDA
IDA: Inferred from direct assay
26305500 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

protein spire homolog 1

  • spire actin nucleation factor 1

SPIRE1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SPIRE1 Q08AE8 BBS4 Homo sapiens Q96RK4
Y2H Prey Pooling
32296183
Intra
SPIRE1 Q08AE8 BBS4 Homo sapiens Q96RK4
Validated Y2H
32296183
Intra
SPIRE1 Q08AE8 BBS4 Homo sapiens Q96RK4
Y2H Array
32296183
Intra
SPIRE1 Q08AE8 PECAM1 Homo sapiens P16284
Validated Y2H
32814053
Intra
SPIRE1 Q08AE8 PECAM1 Homo sapiens P16284
Y2H Array
32814053
Intra
SPIRE1 Q08AE8 PECAM1 Homo sapiens P16284
Y2H Pooling
32814053
Intra
SPIRE1 Q08AE8 ATP1A3 Homo sapiens P13637
Validated Y2H
32814053
Intra
SPIRE1 Q08AE8 ATP1A3 Homo sapiens P13637
Y2H Pooling
32814053
Intra
SPIRE1 Q08AE8 ATP1A3 Homo sapiens P13637
Y2H Array
32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Smallpox

  • Variola

  • Ordinary Smallpox

  • Alastrim

  • Amaas
Familial Hypercholesterolemia

  • Hyperlipoproteinemia Type Iia

  • Familial Hyperbetalipoproteinaemia

  • Familial Hypercholesteremia

  • Fredrickson Type Iia Hyperlipoproteinemia

  • Fredrickson Type Iia Lipidaemia

  • Hyperbetalipoproteinemia

  • Type Ii Hyperlipidemia

  • Familial Hypercholesterolæmia

  • Familial Hypercholesterolaemia

  • Fh

  • Hypercholesterolemia Familial

  • Hyperlipoproteinemia Type Ii

  • Hypercholesterolemia, Familial
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS13687 SPIRE1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris SPIRE1 VGNC VGNC:46748
Bos taurus SPIRE1 VGNC VGNC:35222
Felis catus SPIRE1 VGNC VGNC:80492
Mus musculus SPIRE1 MGD MGI:1915416
Macaca mulatta SPIRE1 VGNC VGNC:104250
Rattus norvegicus SPIRE1 RGD RGD:1305892