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

Gene ID: 56907, updated on 2-Oct-2018

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; Vega:OTTHUMG00000153940
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

Genomic context

See SPIRE1 in Genome Data Viewer
Location:
18p11.21
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (12446512..12661814, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (12446511..12661456, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 129 pseudogene Neighboring gene PRELI domain containing 3A Neighboring gene uncharacterized LOC105371998 Neighboring gene high mobility group box 3 pseudogene 28 Neighboring gene proteasome assembly chaperone 2 Neighboring gene centrosomal protein 76 Neighboring gene long intergenic non-protein coding RNA 1882

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of antibody response to smallpox vaccine.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC150621, MGC150622

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
actin nucleation IEA
Inferred from Electronic Annotation
more info
 
cleavage furrow formation ISS
Inferred from Sequence or Structural Similarity
more info
 
establishment of meiotic spindle localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
formin-nucleated actin cable assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
formin-nucleated actin cable assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
intracellular transport ISS
Inferred from Sequence or Structural Similarity
more info
 
polar body extrusion after meiotic divisions ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of double-strand break repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
vesicle-mediated transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cell cortex ISS
Inferred from Sequence or Structural Similarity
more info
 
colocalizes_with cleavage furrow ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasmic vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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)

  1. NM_001128626.1NP_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
    Consensus CDS
    CCDS45829.1
    UniProtKB/Swiss-Prot
    Q08AE8
    Related
    ENSP00000387266.3, OTTHUMP00000204686, ENST00000409402.8, OTTHUMT00000333109
    Conserved Domains (2) summary
    cd15767
    Location:588708
    FYVE_SPIR1; FYVE-related domain found in protein spire homolog 1 (Spire1) and similar proteins
    pfam16474
    Location:40236
    KIND; Kinase non-catalytic C-lobe domain
  2. NM_001128627.1NP_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/Swiss-Prot
    Q08AE8
    Related
    ENSP00000407050.1, OTTHUMP00000265360, ENST00000453447.6, OTTHUMT00000453094
    Conserved Domains (2) summary
    cd15767
    Location:454574
    FYVE_SPIR1; FYVE-related domain found in protein spire homolog 1 (Spire1) and similar proteins
    cl21453
    Location:1116
    PKc_like; Protein Kinases, catalytic domain
  3. NM_020148.2NP_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, BC115005
    Consensus CDS
    CCDS32790.2
    UniProtKB/Swiss-Prot
    Q08AE8
    Related
    ENSP00000387226.3, OTTHUMP00000204687, ENST00000410092.7, OTTHUMT00000333110
    Conserved Domains (2) summary
    cd15767
    Location:574694
    FYVE_SPIR1; FYVE-related domain found in protein spire homolog 1 (Spire1) and similar proteins
    pfam16474
    Location:40236
    KIND; Kinase non-catalytic C-lobe domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

    Range
    12446512..12661814 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451225.1XP_024306993.1  protein spire homolog 1 isoform X4

    Conserved Domains (2) summary
    cd15767
    Location:466586
    FYVE_SPIR1; FYVE-related domain found in protein spire homolog 1 (Spire1) and similar proteins
    cl21453
    Location:3128
    PKc_like; Protein Kinases, catalytic domain
  2. XM_011525701.1XP_011524003.1  protein spire homolog 1 isoform X1

    Conserved Domains (2) summary
    cd15767
    Location:646766
    FYVE_SPIR1; FYVE-related domain found in protein spire homolog 1 (Spire1) and similar proteins
    pfam16474
    Location:40236
    KIND; Kinase non-catalytic C-lobe domain
  3. XM_005258122.4XP_005258179.1  protein spire homolog 1 isoform X2

    Conserved Domains (2) summary
    cd15767
    Location:632752
    FYVE_SPIR1; FYVE-related domain found in protein spire homolog 1 (Spire1) and similar proteins
    pfam16474
    Location:40236
    KIND; Kinase non-catalytic C-lobe domain
  4. XM_024451224.1XP_024306992.1  protein spire homolog 1 isoform X3

    Conserved Domains (2) summary
    cd15767
    Location:526646
    FYVE_SPIR1; FYVE-related domain found in protein spire homolog 1 (Spire1) and similar proteins
    cl21453
    Location:1116
    PKc_like; Protein Kinases, catalytic domain
  5. XM_011525702.1XP_011524004.1  protein spire homolog 1 isoform X3

    Conserved Domains (2) summary
    cd15767
    Location:526646
    FYVE_SPIR1; FYVE-related domain found in protein spire homolog 1 (Spire1) and similar proteins
    cl21453
    Location:1116
    PKc_like; Protein Kinases, catalytic domain
  6. XM_011525703.2XP_011524005.1  protein spire homolog 1 isoform X5

    Conserved Domains (1) summary
    pfam16474
    Location:40236
    KIND; Kinase non-catalytic C-lobe domain
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