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

Gene ID: 389895, updated on 2-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
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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)

Genotypes

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