SPIRE1 - spire type actin nucleation factor 1 Gene

Homo sapiens

Also known as Spir-1

Gene ID: 56907 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13687	SPIRE1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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