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    HAPSTR1 HUWE1 associated protein modifying stress responses [ Homo sapiens (human) ]

    Gene ID: 29035, updated on 28-Oct-2024

    Summary

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    Official Symbol
    HAPSTR1provided by HGNC
    Official Full Name
    HUWE1 associated protein modifying stress responsesprovided by HGNC
    Primary source
    HGNC:HGNC:30103
    See related
    Ensembl:ENSG00000182831 AllianceGenome:HGNC:30103
    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
    Also known as
    TAPR1; PRO0149; C16orf72
    Summary
    Enables ubiquitin protein ligase binding activity. Involved in negative regulation of signal transduction by p53 class mediator and regulation of cellular response to stress. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 30.6), brain (RPKM 9.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HAPSTR1 in Genome Data Viewer
    Location:
    16p13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (9091644..9121635)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (9124455..9154443)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (9185501..9215492)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:8976345-8976845 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:8981773-8982615 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10359 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10361 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:8997705-8998206 Neighboring gene LITAF domain containing Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10362 Neighboring gene ubiquitin specific peptidase 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10364 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:9047245-9048444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10365 Neighboring gene Sharpr-MPRA regulatory region 8678 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10367 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:9056134-9056670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7183 Neighboring gene hESC enhancers GRCh37_chr16:9059367-9059990 and GRCh37_chr16:9059991-9060614 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:9060615-9061236 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:9077187-9078074 Neighboring gene USP7 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 2468 Neighboring gene Sharpr-MPRA regulatory region 11265 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:9102552-9103123 Neighboring gene Sharpr-MPRA regulatory region 10025 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:9120319-9120818 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:9141017-9142216 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:9143640-9144432 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:9144433-9145223 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:9146779-9147316 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:9161527-9162726 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:9183666-9184531 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7184 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7185 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10373 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:9191093-9191592 Neighboring gene Sharpr-MPRA regulatory region 1845 Neighboring gene Sharpr-MPRA regulatory region 9627 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:9220895-9222094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7187 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:9230549-9231049 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:9242515-9243086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:9247929-9248564 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:9261169-9261672 Neighboring gene ribosomal protein L21 pseudogene 119 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:9270583-9271084 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:9278377-9278559 Neighboring gene NANOG hESC enhancer GRCh37_chr16:9299343-9299871 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:9307121-9307622 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:9311998-9312204 Neighboring gene Sharpr-MPRA regulatory region 5573 Neighboring gene uncharacterized LOC105371075

    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 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. Telomere Attrition and p53 Response 1 (TAPR1): a new player in cancer biology? Santos GAD, et al. Clinics (Sao Paulo), 2021. PMID 34133663, Free PMC Article
    2. The HAPSTR2 retrogene buffers stress signaling and resilience in mammals. Amici DR, et al. Nat Commun, 2023 Jan 11. PMID 36631436, Free PMC Article
    3. A genome-wide association study of behavioral disinhibition. McGue M, et al. Behav Genet, 2013 Sep. PMID 23942779, Free PMC Article
    4. C16orf72/HAPSTR1 is a molecular rheostat in an integrated network of stress response pathways. Amici DR, et al. Proc Natl Acad Sci U S A, 2022 Jul 5. PMID 35776542, Free PMC Article
    5. A negative genetic interaction map in isogenic cancer cell lines reveals cancer cell vulnerabilities. Vizeacoumar FJ, et al. Mol Syst Biol, 2013 Oct 8. PMID 24104479, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. C16orf72/HAPSTR1 is a molecular rheostat in an integrated network of stress response pathways.
      Title: C16orf72/HAPSTR1 is a molecular rheostat in an integrated network of stress response pathways.
    2. A novel p53 regulator, C16ORF72/TAPR1, buffers against telomerase inhibition.
      Title: A novel p53 regulator, C16ORF72/TAPR1, buffers against telomerase inhibition.
    3. Telomere Attrition and p53 Response 1 (TAPR1): a new player in cancer biology?
      Title: Telomere Attrition and p53 Response 1 (TAPR1): a new player in cancer biology?
    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

    EBI GWAS Catalog

    Description
    A genome-wide association study of behavioral disinhibition.
    EBI GWAS Catalog

    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

    Clone Names

    • FLJ41272

    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 negative regulation of signal transduction by p53 class mediator IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of cellular response to stress IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 1
    Names
    Telomere Attrition and p53 Response 1
    UPF0472 protein C16orf72
    telomere attrition and p53 response 1 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_014117.3 → NP_054836.2  HUWE1-associated protein modifying stress responses 1

      See identical proteins and their annotated locations for NP_054836.2

      Status: VALIDATED

      Source sequence(s)
      AC087190
      Consensus CDS
      CCDS10538.1
      UniProtKB/Swiss-Prot
      Q14CZ0
      Related
      ENSP00000331720.7, ENST00000327827.12
      Conserved Domains (1) summary
      pfam15251
      Location:25 → 273
      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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      9091644..9121635
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522462.4 → XP_011520764.1  HUWE1-associated protein modifying stress responses 1 isoform X1

      Conserved Domains (1) summary
      pfam15251
      Location:25 → 196
      DUF4588; Domain of unknown function (DUF4588)

    RNA

    1. XR_007064871.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      9124455..9154443
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380152.1 → XP_054236127.1  HUWE1-associated protein modifying stress responses 1 isoform X1

    RNA

    1. XR_008489081.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14CZ0.1 GenPept UniProtKB/Swiss-Prot:Q14CZ0

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