1. Gene
  2. SPIRE1 - spire type actin nucleation factor 1 Gene

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
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

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