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    YPEL1 yippee like 1 [ Homo sapiens (human) ]

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

    Summary

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    protein yippee-like 1
    Names
    DiGeorge syndrome-related protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_013313.5NP_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:20108
      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_047441355.1XP_047297311.1  protein yippee-like 1 isoform X1

      UniProtKB/Swiss-Prot
      O60688, Q65ZA1, Q6GLI6
    2. XM_047441356.1XP_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_054325590.1XP_054181565.1  protein yippee-like 1 isoform X1

      UniProtKB/Swiss-Prot
      O60688, Q65ZA1, Q6GLI6
    2. XM_054325591.1XP_054181566.1  protein yippee-like 1 isoform X1

      UniProtKB/Swiss-Prot
      O60688, Q65ZA1, Q6GLI6