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    SPDYE1 speedy/RINGO cell cycle regulator family member E1 [ Homo sapiens (human) ]

    Gene ID: 285955, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SPDYE1provided by HGNC
    Official Full Name
    speedy/RINGO cell cycle regulator family member E1provided by HGNC
    Primary source
    HGNC:HGNC:16408
    See related
    Ensembl:ENSG00000136206 MIM:617623; AllianceGenome:HGNC:16408
    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
    SPDYE; Ringo1; WBSCR19; SPDYB2L2
    Summary
    This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 3.3), skin (RPKM 0.9) and 21 other tissues See more
    Orthologs
    all
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    Genomic context

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    See SPDYE1 in Genome Data Viewer
    Location:
    7p13
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (43997897..44010124)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (44156263..44168509)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (44037496..44049723)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene upregulator of cell proliferation Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18133 Neighboring gene tubulin gamma 1 pseudogene Neighboring gene ubiquitin conjugating enzyme E2 D4 Neighboring gene RNA polymerase II subunit J4 (pseudogene) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18134 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18135 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:44010479-44010996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18136 Neighboring gene Sharpr-MPRA regulatory region 7454 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:44070666-44070855 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:44075983-44076482 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18138 Neighboring gene RAS p21 protein activator 4C, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:44084499-44084999 Neighboring gene long intergenic non-protein coding RNA 957 Neighboring gene microRNA 6837 Neighboring gene drebrin like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Characterization of a new family of cyclin-dependent kinase activators. Dinarina A, et al. Biochem J, 2005 Mar 1. PMID 15574121, Free PMC Article
    2. Identification of additional transcripts in the Williams-Beuren syndrome critical region. Merla G, et al. Hum Genet, 2002 May. PMID 12073013
    3. Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer. Vichas A, et al. Nat Commun, 2021 Aug 9. PMID 34373451, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp434A1014

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of cyclin-dependent protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    speedy protein E1
    Names
    Speedy E
    Williams Beuren syndrome chromosome region 19 protein
    putative WBSCR19-like protein 6
    speedy homolog E1
    williams-Beuren syndrome chromosomal region 19 protein

    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)

    1. NM_001378423.2 → NP_001365352.1  speedy protein E1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC004951
      Consensus CDS
      CCDS94090.1
      UniProtKB/TrEMBL
      A0A494C1S0
      Related
      ENSP00000509569.1, ENST00000693451.1
      Conserved Domains (1) summary
      pfam11357
      Location:193 → 372
      Spy1; Cell cycle regulatory protein

    2. NM_175064.4 → NP_778234.2  speedy protein E1 isoform 2

      See identical proteins and their annotated locations for NP_778234.2

      Status: VALIDATED

      Source sequence(s)
      AC004951
      Consensus CDS
      CCDS5475.1
      UniProtKB/Swiss-Prot
      A6NJR5, Q8NFV5, Q9NTH5
      Related
      ENSP00000258704.3, ENST00000258704.3
      Conserved Domains (1) summary
      pfam11357
      Location:153 → 332
      Spy1; Cell cycle regulatory protein

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      43997897..44010124
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017012016.3 → XP_016867505.1  speedy protein E1 isoform X2

    2. XM_047420215.1 → XP_047276171.1  speedy protein E1 isoform X3

    3. XM_017012015.2 → XP_016867504.1  speedy protein E1 isoform X1

      UniProtKB/TrEMBL
      A0A494C1S0
      Conserved Domains (1) summary
      pfam11357
      Location:193 → 372
      Spy1; Cell cycle regulatory protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      44156263..44168509
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357928.1 → XP_054213903.1  speedy protein E1 isoform X2

    2. XM_054357929.1 → XP_054213904.1  speedy protein E1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NFV5.3 GenPept UniProtKB/Swiss-Prot:Q8NFV5

    Gene LinkOut

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