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    SH3GL1P1 SH3 domain containing GRB2 like 1, endophilin A2 pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 6458, updated on 17-Sep-2024

    Summary

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    Official Symbol
    SH3GL1P1provided by HGNC
    Official Full Name
    SH3 domain containing GRB2 like 1, endophilin A2 pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:10835
    See related
    Ensembl:ENSG00000293287 AllianceGenome:HGNC:10835
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CNSA-P1; SH3GLP1
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    Genomic context

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    See SH3GL1P1 in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (32040336..32042832)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (32986218..32988714)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (30367355..30369851)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene SUZ12 polycomb repressive complex 2 subunit Neighboring gene RNA, 5S ribosomal pseudogene 437 Neighboring gene SUZ12 PRS4 recombination region Neighboring gene uncharacterized LOC124903972 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30333403-30334325 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8417 Neighboring gene leucine rich repeat containing 37B Neighboring gene NF1-REPc UWA160-1 recombination region Neighboring gene NF1-REPc PRS1 recombination region Neighboring gene NF1-REPc PRS2 recombination region Neighboring gene uncharacterized LOC124903973 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:30410752-30411272 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:30412316-30412836 Neighboring gene uncharacterized LOC102724625 Neighboring gene NF1-REPc PRS3 recombination region Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:30428007-30428812 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:30437320-30438144 Neighboring gene WD repeat domain 45B pseudogene 1

    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. EEN encodes for a member of a new family of proteins containing an Src homology 3 domain and is the third gene located on chromosome 19p13 that fuses to MLL in human leukemia. So CW, et al. Proc Natl Acad Sci U S A, 1997 Mar 18. PMID 9122235, Free PMC Article
    2. A novel SH3-containing human gene family preferentially expressed in the central nervous system. Giachino C, et al. Genomics, 1997 May 1. PMID 9169142
    3. VIRMA mediates preferential m(6)A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Yue Y, et al. Cell Discov, 2018. PMID 29507755, 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 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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    Other Names

    • SH3 domain containing GRB2 like 1 pseudogene 1
    • SH3-domain GRB2-like 1 pseudogene 1
    • SH3-domain GRB2-like pseudogene 1

    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.

    RNA

    1. NR_033412.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC090616
      Related
      ENST00000579186.2

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      32040336..32042832
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      32986218..32988714
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_006135.2: Suppressed sequence

      Description
      NG_006135.2: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.

    2. NG_026242.1: Suppressed sequence

      Description
      NG_026242.1: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.
    Nucleotide Protein
    Heading Accession and Version

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