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

Gene ID: 29035, updated on 10-Dec-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, Dec 2024]
Expression
Ubiquitous expression in bone marrow (RPKM 30.6), brain (RPKM 9.3) and 25 other tissues See more
Orthologs
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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: 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

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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)

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

Gene LinkOut

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