SPIRE1 spire type actin nucleation factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPIRE1provided by HGNC
Official Full Name: spire type actin nucleation factor 1provided by HGNC
Primary source: HGNC:HGNC:30622
See related: Ensembl:ENSG00000134278 MIM:609216; AllianceGenome:HGNC:30622
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Spir-1
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]
Expression: Broad expression in brain (RPKM 20.7), testis (RPKM 14.2) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18p11.21

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (12446512..12662091, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (12609480..12825076, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (12446511..12662090, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Spire1 and Myosin Vc promote Ca(2+)-evoked externalization of von Willebrand factor in endothelial cells.
Title: Spire1 and Myosin Vc promote Ca(2+)-evoked externalization of von Willebrand factor in endothelial cells.
Lnc-SMaRT Translational Regulation of Spire1, A New Player in Muscle Differentiation.
Title: Lnc-SMaRT Translational Regulation of Spire1, A New Player in Muscle Differentiation.
interferes with bacterial binding in Salmonella typhimurium host cell invasion
Title: A Genome-Wide siRNA Screen Implicates Spire1/2 in SipA-Driven Salmonella Typhimurium Host Cell Invasion.
Data suggest formin homology domain (FH2) of Fmn2 binds actin at filament barbed end as weak capper and plays a role in displacing WASP homology domain 2 (WH2) domains of Spire-1 from actin; competitive binding of Fmn2 vs Spire-1 aids actin assembly.
Title: Role of the C-terminal Extension of Formin 2 in Its Activation by Spire Protein and Processive Assembly of Actin Filaments.
This DNA damage-induced nuclear actin assembly requires two biologically and physically linked nucleation factors: Formin-2 and Spire-1/Spire-2.
Title: DNA damage induces nuclear actin filament assembly by Formin -2 and Spire-½ that promotes efficient DNA repair. [corrected].
The authors propose Spire1C isoform cooperates with INF2 to regulate actin assembly at endoplasmic reticulum-mitochondrial contacts.
Title: A mitochondria-anchored isoform of the actin-nucleating spire protein regulates mitochondrial division.
Spire recruits Fmn2 and facilitates its association with actin filaments barbed ends.
Title: Spire and Formin 2 synergize and antagonize in regulating actin assembly in meiosis by a ping-pong mechanism.
Spire-1 is specifically recruited at invadosomes and is part of a multi-molecular complex containing Src kinase, the formin mDia1 and actin.
Title: Spire-1 contributes to the invadosome and its associated invasive properties.
analysis of the molecular basis of the Spir1/formin-2 interaction
Title: Molecular basis of actin nucleation factor cooperativity: crystal structure of the Spir-1 kinase non-catalytic C-lobe domain (KIND)•formin-2 formin SPIR interaction motif (FSI) complex.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of antibody response to smallpox vaccine. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D18S895E (e-PCR)
- UniSTS:25907

SHGC-34655 (e-PCR)
- UniSTS:7536

G63697 (e-PCR)
- UniSTS:140659

RH8155 (e-PCR)
- UniSTS:88959

G09552 (e-PCR)
- UniSTS:25225

D18S71 (e-PCR), detects polymorphism
- UniSTS:9104

D18S71 (e-PCR), detects polymorphism
- UniSTS:46521

RH91174 (e-PCR)
- UniSTS:84670

SHGC-32292 (e-PCR)
- UniSTS:42956

D18S996 (e-PCR)
- UniSTS:46041

D18S913E (e-PCR)
- UniSTS:150516

D18S935E (e-PCR)
- UniSTS:150527

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Golgi vesicle transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin filament network formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament polymerization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin nucleation	IEA Inferred from Electronic Annotation more info
involved_in cleavage furrow formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cleavage furrow formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of meiotic spindle localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment of meiotic spindle localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in formin-nucleated actin cable assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in formin-nucleated actin cable assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in intracellular transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in polar body extrusion after meiotic divisions	IBA Inferred from Biological aspect of Ancestor more info
involved_in polar body extrusion after meiotic divisions	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of double-strand break repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mitochondrial fission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in vesicle-mediated transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in cell cortex	IBA Inferred from Biological aspect of Ancestor more info
located_in cell cortex	ISS Inferred from Sequence or Structural Similarity more info
colocalizes_with cleavage furrow	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasmic vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitochondrial outer membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein spire homolog 1

Names: spire actin nucleation factor 1; spire family actin nucleation factor 1; spire homolog 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001128626.2 → NP_001122098.1 protein spire homolog 1 isoform a

See identical proteins and their annotated locations for NP_001122098.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AB032961, AP001029, AP005482

Consensus CDS

CCDS45829.1

UniProtKB/Swiss-Prot

A8K2B5, J3KQ50, J3KQR5, Q08AE8, Q1RMD4, Q8NDP1, Q9NQ71, Q9ULT4

Related

ENSP00000387266.3, ENST00000409402.9

Conserved Domains (2) summary

cd15767
Location:588 → 708

FYVE_SPIR1; FYVE-related domain found in protein spire homolog 1 (Spire1) and similar proteins

pfam16474
Location:40 → 236

KIND; Kinase non-catalytic C-lobe domain
NM_001128627.1 → NP_001122099.1 protein spire homolog 1 isoform c

See identical proteins and their annotated locations for NP_001122099.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an in-frame exon and differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus and lacks an alternate segment compared to isoform a.

Source sequence(s)

AP001029, BC115005, DB056921

Consensus CDS

CCDS45830.1

UniProtKB/TrEMBL

B4DWX0

Related

ENSP00000407050.1, ENST00000453447.6

Conserved Domains (2) summary

cd15767
Location:454 → 574

FYVE_SPIR1; FYVE-related domain found in protein spire homolog 1 (Spire1) and similar proteins

cl21453
Location:1 → 116

PKc_like; Protein Kinases, catalytic domain
NM_001394323.1 → NP_001381252.1 protein spire homolog 1 isoform d

Status: VALIDATED

Source sequence(s)

AP001029, AP005482

UniProtKB/TrEMBL

B4DWX0

Conserved Domains (6) summary

cd15767
Location:466 → 586

FYVE_SPIR1; FYVE-related domain found in protein spire homolog 1 (Spire1) and similar proteins

cd22065
Location:152 → 183

WH2_Spire_1-2_r1; first tandem Wiskott-Aldrich Syndrome Homology (WASP) region 2 (WH2 motif) repeat of protein Spire homologs 1 and 2

cd22078
Location:192 → 223

WH2_Spire1_r2-like; second tandem Wiskott-Aldrich Syndrome Homology (WASP) region 2 (WH2 motif) repeat of protein Spire homolog 1 (Spir1), and related proteins

cd22080
Location:257 → 280

WH2_Spire1_r4; fourth tandem Wiskott-Aldrich Syndrome Homology (WASP) region 2 (WH2 motif) repeat of protein Spire homolog 1

cd22186
Location:226 → 248

WH2_Spire1-2_r3; third tandem Wiskott-Aldrich Syndrome Homology (WASP) region 2 (WH2 motif) repeat of protein Spire homologs 1 and 2

cl21453
Location:3 → 128

PKc_like; Protein Kinases, catalytic domain
NM_001394324.1 → NP_001381253.1 protein spire homolog 1 isoform e

Status: VALIDATED

Source sequence(s)

AP001029, AP005482

Consensus CDS

CCDS92438.1

UniProtKB/TrEMBL

B4DWX0, J3KNG6

Related

ENSP00000309661.5, ENST00000309836.9

Conserved Domains (2) summary

cd15767
Location:377 → 497

FYVE_SPIR1; FYVE-related domain found in protein spire homolog 1 (Spire1) and similar proteins

cl21453
Location:4 → 34

PKc_like; Protein Kinases, catalytic domain
NM_001394325.1 → NP_001381254.1 protein spire homolog 1 isoform f

Status: VALIDATED

Source sequence(s)

AP001028, AP001029, AP005482

Related

ENSP00000404752.1, ENST00000440472.6

Conserved Domains (6) summary

cl28890
Location:415 → 442

FYVE_like_SF; FYVE domain like superfamily

cd22065
Location:101 → 132

WH2_Spire_1-2_r1; first tandem Wiskott-Aldrich Syndrome Homology (WASP) region 2 (WH2 motif) repeat of protein Spire homologs 1 and 2

cd22078
Location:141 → 172

WH2_Spire1_r2-like; second tandem Wiskott-Aldrich Syndrome Homology (WASP) region 2 (WH2 motif) repeat of protein Spire homolog 1 (Spir1), and related proteins

cd22080
Location:206 → 229

WH2_Spire1_r4; fourth tandem Wiskott-Aldrich Syndrome Homology (WASP) region 2 (WH2 motif) repeat of protein Spire homolog 1

cd22186
Location:175 → 197

WH2_Spire1-2_r3; third tandem Wiskott-Aldrich Syndrome Homology (WASP) region 2 (WH2 motif) repeat of protein Spire homologs 1 and 2

cl21453
Location:1 → 77

PKc_like; Protein Kinases, catalytic domain
NM_020148.3 → NP_064533.3 protein spire homolog 1 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AB032961, AP001029, AP005482, BC115005

Consensus CDS

CCDS32790.2

UniProtKB/Swiss-Prot

Q08AE8

Related

ENSP00000387226.3, ENST00000410092.7

Conserved Domains (2) summary

cd15767
Location:574 → 694

FYVE_SPIR1; FYVE-related domain found in protein spire homolog 1 (Spire1) and similar proteins

pfam16474
Location:40 → 236

KIND; Kinase non-catalytic C-lobe domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

12446512..12662091 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005258122.5 → XP_005258179.1 protein spire homolog 1 isoform X2

Conserved Domains (2) summary

cd15767
Location:632 → 752

FYVE_SPIR1; FYVE-related domain found in protein spire homolog 1 (Spire1) and similar proteins

pfam16474
Location:40 → 236

KIND; Kinase non-catalytic C-lobe domain
XM_011525701.2 → XP_011524003.1 protein spire homolog 1 isoform X1

Conserved Domains (2) summary

cd15767
Location:646 → 766

FYVE_SPIR1; FYVE-related domain found in protein spire homolog 1 (Spire1) and similar proteins

pfam16474
Location:40 → 236

KIND; Kinase non-catalytic C-lobe domain
XM_024451224.2 → XP_024306992.1 protein spire homolog 1 isoform X3

Conserved Domains (2) summary

cd15767
Location:526 → 646

FYVE_SPIR1; FYVE-related domain found in protein spire homolog 1 (Spire1) and similar proteins

cl21453
Location:1 → 116

PKc_like; Protein Kinases, catalytic domain
XM_011525702.2 → XP_011524004.1 protein spire homolog 1 isoform X3

Conserved Domains (2) summary

cd15767
Location:526 → 646

FYVE_SPIR1; FYVE-related domain found in protein spire homolog 1 (Spire1) and similar proteins

cl21453
Location:1 → 116

PKc_like; Protein Kinases, catalytic domain
XM_047437672.1 → XP_047293628.1 protein spire homolog 1 isoform X3
XM_047437674.1 → XP_047293630.1 protein spire homolog 1 isoform X3
XM_047437673.1 → XP_047293629.1 protein spire homolog 1 isoform X3
XM_011525703.3 → XP_011524005.1 protein spire homolog 1 isoform X4

Conserved Domains (1) summary

pfam16474
Location:40 → 236

KIND; Kinase non-catalytic C-lobe domain