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

Gene ID: 285955, updated on 5-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (43997897..44010124)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (44156263..44168509)
105.20220307 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 (putative) 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
  • 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
  

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_2023_10

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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