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    YPEL1 yippee like 1 [ Homo sapiens (human) ]

    Gene ID: 29799, updated on 10-Dec-2024

    Summary

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    Official Symbol
    YPEL1provided by HGNC
    Official Full Name
    yippee like 1provided by HGNC
    Primary source
    HGNC:HGNC:12845
    See related
    Ensembl:ENSG00000100027 MIM:608082; AllianceGenome:HGNC:12845
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FKSG3
    Summary
    This gene is located in the region associated with DiGeorge syndrome on chromosome 22. The encoded protein localizes to the centrosome and nucleolus and may play a role in the regulation of cell division. [provided by RefSeq, Feb 2015]
    Expression
    Broad expression in testis (RPKM 12.9), brain (RPKM 4.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See YPEL1 in Genome Data Viewer
    Location:
    22q11.21-q11.22
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (21697536..21735794, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (22111014..22149275, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (22051825..22090083, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:22006726-22007397 Neighboring gene uncharacterized LOC107985532 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13513 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:22020233-22021143 Neighboring gene microRNA 301b Neighboring gene microRNA 130b Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22029290-22029497 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:22035719-22036220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:22041165-22041665 Neighboring gene peptidylprolyl isomerase like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18703 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:22064332-22065531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18704 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22068158-22068316 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22077940-22078170 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22084296-22084483 Neighboring gene RNA, 7SL, cytoplasmic 280, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13515 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63007 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18707 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22112788-22113234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18710 Neighboring gene mitogen-activated protein kinase 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22144051-22144194 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:22145734-22146933 Neighboring gene MPRA-validated peak4466 silencer Neighboring gene RNA, 5S ribosomal pseudogene 493 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22165820-22166034 Neighboring gene Sharpr-MPRA regulatory region 14215 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22192349-22192556 Neighboring gene MPRA-validated peak4467 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:22210131-22210632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13517 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:22237113-22237874 Neighboring gene MPPE1 pseudogene 2

    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. Expression of YPEL1 in pancreatic cancer cell lines and tissues. Abiatari I, et al. Georgian Med News, 2009 Oct. PMID 19893129
    2. Ypel1: a novel nuclear protein that induces an epithelial-like morphology in fibroblasts. Farlie P, et al. Genes Cells, 2001 Jul. PMID 11473580
    3. Identification and characterization of a novel gene family YPEL in a wide spectrum of eukaryotic species. Hosono K, et al. Gene, 2004 Sep 29. PMID 15556292
    4. [IMAGE: molecular integration of the analysis of the human genome and its expression]. Auffray C, et al. C R Acad Sci III, 1995 Feb. PMID 7757816
    5. Centrosome-related genes, genetic variation, and risk of breast cancer. Olson JE, et al. Breast Cancer Res Treat, 2011 Jan. PMID 20508983, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Centrosome-related genes, genetic variation, and risk of breast cancer.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC64992

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein yippee-like 1
    Names
    DiGeorge syndrome-related 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_013313.5 → NP_037445.1  protein yippee-like 1

      See identical proteins and their annotated locations for NP_037445.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the protein.
      Source sequence(s)
      AB098734, AW006162, AW161786, BC015229
      Consensus CDS
      CCDS13794.1
      UniProtKB/Swiss-Prot
      O60688, Q65ZA1, Q6GLI6
      Related
      ENSP00000342832.3, ENST00000339468.8
      Conserved Domains (1) summary
      cl13152
      Location:20 → 108
      RLR_C_like; C-terminal domain of Retinoic acid-inducible gene (RIG)-I-like Receptors, Cereblon (CRBN), and similar protein domains

    RNA

    1. NR_130910.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses two alternate splice sites in internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB098734, AW161786, BC015229, BC048303

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      21697536..21735794 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441355.1 → XP_047297311.1  protein yippee-like 1 isoform X1

      UniProtKB/Swiss-Prot
      O60688, Q65ZA1, Q6GLI6

    2. XM_047441356.1 → XP_047297312.1  protein yippee-like 1 isoform X1

      UniProtKB/Swiss-Prot
      O60688, Q65ZA1, Q6GLI6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      22111014..22149275 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325590.1 → XP_054181565.1  protein yippee-like 1 isoform X1

      UniProtKB/Swiss-Prot
      O60688, Q65ZA1, Q6GLI6

    2. XM_054325591.1 → XP_054181566.1  protein yippee-like 1 isoform X1

      UniProtKB/Swiss-Prot
      O60688, Q65ZA1, Q6GLI6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60688.1 GenPept UniProtKB/Swiss-Prot:O60688

    Gene LinkOut

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

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