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

    Gene ID: 56907, updated on 10-Dec-2024

    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
    NEW
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    Genomic context

    See SPIRE1 in Genome Data Viewer
    Location:
    18p11.21
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (12446512..12662091, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (12609480..12825076, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (12446511..12662090, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 1882 Neighboring gene hESC enhancers GRCh37_chr18:12407327-12407988 and GRCh37_chr18:12407989-12408648 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12415673-12416623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9313 Neighboring gene RNA, U7 small nuclear 129 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:12431759-12432277 Neighboring gene uncharacterized LOC105371998 Neighboring gene PRELI domain containing 3A Neighboring gene ReSE screen-validated silencer GRCh37_chr18:12465167-12465325 Neighboring gene high mobility group box 3 pseudogene 28 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:12494438-12494637 Neighboring gene MPRA-validated peak3058 silencer Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9314 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:12647566-12648390 Neighboring gene NANOG hESC enhancer GRCh37_chr18:12651568-12652151 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9315 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:12658125-12658293 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9318 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:12701867-12702764 Neighboring gene proteasome assembly chaperone 2 Neighboring gene centrosomal protein 76 Neighboring gene NANOG hESC enhancer GRCh37_chr18:12722786-12723287 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:12734331-12734497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13105 Neighboring gene long intergenic non-protein coding RNA 1882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:12766527-12767028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:12767029-12767528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13106 Neighboring gene protein tyrosine phosphatase non-receptor type 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13107 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12843102-12843610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13110 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12860375-12861038 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12873719-12874330 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12875558-12876170 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:12878042-12878251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13111 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9319 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9320

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (10 hits/1270 screens)

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • MGC150621, MGC150622

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding  
    enables microtubule binding  
    enables protein binding PubMed 
    Process Evidence Code Pubs
    involved_in Golgi vesicle transport  
    involved_in actin cytoskeleton organization PubMed 
    involved_in actin filament network formation  
    involved_in actin filament polymerization  
    involved_in actin nucleation  
    involved_in cleavage furrow formation  
    involved_in cleavage furrow formation  
    involved_in establishment of meiotic spindle localization  
    involved_in establishment of meiotic spindle localization PubMed 
    involved_in formin-nucleated actin cable assembly PubMed 
    involved_in formin-nucleated actin cable assembly  
    involved_in innate immune response  
    involved_in intracellular transport  
    involved_in intracellular transport  
    involved_in polar body extrusion after meiotic divisions  
    involved_in polar body extrusion after meiotic divisions  
    involved_in positive regulation of double-strand break repair PubMed 
    involved_in positive regulation of mitochondrial fission PubMed 
    involved_in protein transport  
    involved_in vesicle-mediated transport  
    Component Evidence Code Pubs
    is_active_in cell cortex  
    located_in cell cortex  
    colocalizes_with cleavage furrow  
    is_active_in cytoplasmic vesicle membrane  
    located_in cytoplasmic vesicle membrane  
    located_in cytoskeleton  
    located_in cytosol  
    located_in mitochondrial outer membrane PubMed 
    located_in nucleoplasm  
    located_in perinuclear region of cytoplasm  

    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)

    NEW Try the new Transcript table

    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_001128626.2 → 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
    2. 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
    3. 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
    4. 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
    5. 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

    RNA

    1. NR_197429.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AP001028, AP001029, AP005482

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      12446512..12662091 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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
    2. 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
    3. 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
    4. 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
    5. XM_047437672.1 → XP_047293628.1  protein spire homolog 1 isoform X3

    6. XM_047437674.1 → XP_047293630.1  protein spire homolog 1 isoform X3

    7. XM_047437673.1 → XP_047293629.1  protein spire homolog 1 isoform X3

    8. 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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      12609480..12825076 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318859.1 → XP_054174834.1  protein spire homolog 1 isoform X2

    2. XM_054318858.1 → XP_054174833.1  protein spire homolog 1 isoform X1

    3. XM_054318860.1 → XP_054174835.1  protein spire homolog 1 isoform X3

    4. XM_054318861.1 → XP_054174836.1  protein spire homolog 1 isoform X3

    5. XM_054318862.1 → XP_054174837.1  protein spire homolog 1 isoform X3

    6. XM_054318863.1 → XP_054174838.1  protein spire homolog 1 isoform X3

    7. XM_054318864.1 → XP_054174839.1  protein spire homolog 1 isoform X3

    8. XM_054318865.1 → XP_054174840.1  protein spire homolog 1 isoform X4

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