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    SPDYE8 speedy/RINGO cell cycle regulator family member E8 [ Homo sapiens (human) ]

    Gene ID: 728524, updated on 27-Dec-2024

    Summary

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    Official Symbol
    SPDYE8provided by HGNC
    Official Full Name
    speedy/RINGO cell cycle regulator family member E8provided by HGNC
    Primary source
    HGNC:HGNC:33771
    See related
    Ensembl:ENSG00000273520 AllianceGenome:HGNC:33771
    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
    SPDYE9; SPDYE8P
    Summary
    Enables acetylcholine receptor regulator activity. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 7.7), skin (RPKM 2.0) and 23 other tissues See more
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    Genomic context

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    See SPDYE8 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 (73019719..73029766, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74247948..74258006, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (72490248..72500313, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901672 Neighboring gene STAG3 cohesin complex component like 3 (pseudogene) Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:72475839-72476347 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:72476348-72476856 Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 7 Neighboring gene PMS1 homolog 2, mismatch repair system component pseudogene 8 Neighboring gene speedy/RINGO cell cycle regulator family member E11

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    3. 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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    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)

    General gene information

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    Homology

    Clone Names

    • MGC48646, MGC131642

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    putative speedy protein E8
    Names
    Williams Beuren syndrome chromosome region 19 pseudogene
    speedy homolog E pseudogene
    speedy homolog E8, pseudogene
    speedy/RINGO cell cycle regulator family member E1 pseudogene
    speedy/RINGO cell cycle regulator family member E8, 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_001382525.2 → NP_001369454.1  putative speedy protein E8

      Status: VALIDATED

      Source sequence(s)
      AC211476
      Consensus CDS
      CCDS94114.1
      UniProtKB/Swiss-Prot
      A0A494C191, P0DTA3, P0DUD1, P0DUD2, P0DUX0
      Related
      ENSP00000498819.1, ENST00000333385.11
      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
      73019719..73029766 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      74247948..74258006 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_006254.1: Suppressed sequence

      Description
      NG_006254.1: This RefSeq was permanently suppressed because it is now thought that this gene is a transcribed pseudogene.

    2. NM_001023562.1: Suppressed sequence

      Description
      NM_001023562.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.

    3. NM_001032389.2: Suppressed sequence

      Description
      NM_001032389.2: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.

    4. NR_003664.2: Suppressed sequence

      Description
      NR_003664.2: This RefSeq was removed because it is now thought that this gene does encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0DUD1.1 GenPept UniProtKB/Swiss-Prot:P0DUD1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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    Research Materials