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    SPDYE9 speedy/RINGO cell cycle regulator family member E9 [ Homo sapiens (human) ]

    Gene ID: 643909, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SPDYE9provided by HGNC
    Official Full Name
    speedy/RINGO cell cycle regulator family member E9provided by HGNC
    Primary source
    HGNC:HGNC:45034
    See related
    Ensembl:ENSG00000262461 AllianceGenome:HGNC:45034
    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
    SPDYE9P
    Summary
    Predicted to enable protein kinase binding activity. Predicted to be involved in positive regulation of cyclin-dependent protein serine/threonine kinase activity. [provided by Alliance of Genome Resources, Nov 2024]
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    Genomic context

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    See SPDYE9 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73075972..73086038, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74276032..74286089, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 (PATCHES) NW_003871064.1 (605208..615274, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 8 Neighboring gene speedy/RINGO cell cycle regulator family member E11 Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 14 Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 6 Neighboring gene speedy/RINGO cell cycle regulator family member E10 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:72568113-72568885 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18244 Neighboring gene general transcription factor IIi pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. Kim YJ, et al. Nat Genet, 2011 Sep 11. PMID 21909109
    2. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Homology

    Clone Names

    • FLJ20949

    General protein information

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    Preferred Names
    speedy/RINGO cell cycle regulator family member E9
    Names
    Williams Beuren syndrome chromosome region 19 pseudogene
    speedy homolog E1 pseudogene
    speedy homolog E9, pseudogene
    speedy/RINGO cell cycle regulator family member E1 pseudogene
    speedy/RINGO cell cycle regulator family member E9, pseudogene

    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_001382554.3 → NP_001369483.1  speedy/RINGO cell cycle regulator family member E9

      Status: VALIDATED

      Source sequence(s)
      AC211476
      Consensus CDS
      CCDS94116.1
      UniProtKB/Swiss-Prot
      A0A494C191, P0DTA3, P0DUD1, P0DUD2, P0DUX0
      Related
      ENSP00000498945.1, ENST00000575125.6
      Conserved Domains (1) summary
      pfam11357
      Location:107 → 261
      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
      73075972..73086038 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420708.1 → XP_047276664.1  speedy/RINGO cell cycle regulator family member E9 isoform X1

      UniProtKB/Swiss-Prot
      A0A494C191, P0DTA3, P0DUD1, P0DUD2, P0DUX0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      74276032..74286089 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358794.1 → XP_054214769.1  speedy/RINGO cell cycle regulator family member E9 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_006528.3: Suppressed sequence

      Description
      NG_006528.3: This RefSeq was permanently suppressed because the gene is no longer present as a unique locus in the GRCh38 assembly.

    2. NG_006532.5: Suppressed sequence

      Description
      NG_006532.5: This RefSeq was removed because it is now thought that this gene does encode a protein.
    Nucleotide Protein
    Heading Accession and Version

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