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    HAPSTR2 HUWE1 associated protein modifying stress responses 2 [ Homo sapiens (human) ]

    Gene ID: 389895, updated on 27-Nov-2024

    Summary

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    Official Symbol
    HAPSTR2provided by HGNC
    Official Full Name
    HUWE1 associated protein modifying stress responses 2provided by HGNC
    Primary source
    HGNC:HGNC:55138
    See related
    Ensembl:ENSG00000230707 AllianceGenome:HGNC:55138
    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
    Summary
    Enables ubiquitin protein ligase binding activity. Involved in protein stabilization. Located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    mouse all
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    Genomic context

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    See HAPSTR2 in Genome Data Viewer
    Location:
    Xq27.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (140091678..140092911)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (138403603..138404836)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (139173837..139175070)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 3 Neighboring gene VISTA enhancer hs427 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21038 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:139174023-139174994 Neighboring gene RNA, 7SL, cytoplasmic 727, pseudogene Neighboring gene OCT4 hESC enhancer GRCh37_chrX:139215004-139215505 Neighboring gene uncharacterized LOC105373343 Neighboring gene VISTA enhancer hs667 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:139355782-139356282 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:139356271-139357470 Neighboring gene NANOG hESC enhancer GRCh37_chrX:139431717-139432218 Neighboring gene NANOG hESC enhancer GRCh37_chrX:139436606-139437472 Neighboring gene EED 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. The HAPSTR2 retrogene buffers stress signaling and resilience in mammals. Amici DR, et al. Nat Commun, 2023 Jan 11. PMID 36631436, Free PMC Article
    2. Genome-wide CRISPR screens identify novel regulators of wild-type and mutant p53 stability. Lü Y, et al. Mol Syst Biol, 2024 Jun. PMID 38580884, Free PMC Article
    3. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    HUWE1-associated protein modifying stress responses 2
    Names
    chromosome 16 open reading frame 72-like

    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_001271560.3 → NP_001258489.1  HUWE1-associated protein modifying stress responses 2

      Status: VALIDATED

      Source sequence(s)
      AL589987
      Consensus CDS
      CCDS94678.1
      UniProtKB/Swiss-Prot
      A0A7P0TBJ1
      Related
      ENSP00000506518.1, ENST00000453380.3
      Conserved Domains (1) summary
      pfam15251
      Location:21 → 271
      DUF4588; Domain of unknown function (DUF4588)

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      140091678..140092911
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      138403603..138404836
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_022709.1: Suppressed sequence

      Description
      NG_022709.1: This RefSeq was permanently suppressed 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
    A0A7P0TBJ1.1 GenPept UniProtKB/Swiss-Prot:A0A7P0TBJ1

    Gene LinkOut

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

    Molecular Biology Databases
    Research Materials