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    ATRAID all-trans retinoic acid induced differentiation factor [ Homo sapiens (human) ]

    Gene ID: 51374, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ATRAIDprovided by HGNC
    Official Full Name
    all-trans retinoic acid induced differentiation factorprovided by HGNC
    Primary source
    HGNC:HGNC:24090
    See related
    Ensembl:ENSG00000138085 MIM:619682; AllianceGenome:HGNC:24090
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    p18; APR3; APR-3; APR--3; PRO240; C2orf28; HSPC013
    Summary
    This gene is thought to be involved in apoptosis, and may also be involved in hematopoietic development and differentiation. The use of alternative splice sites and promotors result in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2009]
    Expression
    Ubiquitous expression in thyroid (RPKM 48.2), testis (RPKM 45.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ATRAID in Genome Data Viewer
    Location:
    2p23.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27212041..27217183)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27253676..27258822)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27434909..27440051)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene proline rich 30 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15492 Neighboring gene transcription factor 23 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15493 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11288 Neighboring gene Sharpr-MPRA regulatory region 2640 Neighboring gene MPRA-validated peak3631 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27432993-27433790 Neighboring gene solute carrier family 5 member 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11289 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11291 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:27454350-27455549 Neighboring gene carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:27465505-27466704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27472326-27473120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27473121-27473914 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11292 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11293 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11294 Neighboring gene solute carrier family 30 member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11295 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11296 Neighboring gene DnaJ heat shock protein family (Hsp40) member C5 gamma

    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
    • 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. Increased expression of apoptosis-related protein 3 is highly associated with tumorigenesis and progression of cervical squamous cell carcinoma. Zhang Y, et al. Hum Pathol, 2013 Mar. PMID 23036366
    2. The Genetics of Atypical Femur Fractures-a Systematic Review. Zhou W, et al. Curr Osteoporos Rep, 2021 Apr. PMID 33587247, Free PMC Article
    3. ATRAID regulates the action of nitrogen-containing bisphosphonates on bone. Surface LE, et al. Sci Transl Med, 2020 May 20. PMID 32434850, Free PMC Article
    4. Identification of the distinct promoters for the two transcripts of apoptosis related protein 3 and their transcriptional regulation by NFAT and NFkappaB. Yang G, et al. Mol Cell Biochem, 2007 Aug. PMID 17387583
    5. Interaction of Nel-like molecule 1 with apoptosis related protein 3 with its influence on human dental pulp cells proliferation and differentiation into odontoblasts. Tian X, et al. Biochem Biophys Res Commun, 2019 Oct 15. PMID 31416616

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The Genetics of Atypical Femur Fractures-a Systematic Review.
      Title: The Genetics of Atypical Femur Fractures-a Systematic Review.
    2. Nell-1 could reciprocally interact with APR3 and stimulate the differentiation and mineralization of human dental pulp cells.
      Title: Interaction of Nel-like molecule 1 with apoptosis related protein 3 with its influence on human dental pulp cells proliferation and differentiation into odontoblasts.
    3. APR3 expression is increased significantly with malignant progression of human cervical cervical squamous cell carcinoma (SCC), and thus, it may serve as a potential biomarker to predict prognosis of cervical SCC.
      Title: Increased expression of apoptosis-related protein 3 is highly associated with tumorigenesis and progression of cervical squamous cell carcinoma.
    4. the effects of NELL-1 on osteoblastic differentiation and proliferation are partly through binding to APR3
      Title: NELL-1 binds to APR3 affecting human osteoblast proliferation and differentiation.
    5. These data suggested that APR3 might be functionally important in certain processes under which NFAT and/or NFkappaB are/is activated.
      Title: Identification of the distinct promoters for the two transcripts of apoptosis related protein 3 and their transcriptional regulation by NFAT and NFkappaB.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef The yeast two-hybrid screen identifies the HIV-1 Nef interacting human protein all-trans retinoic acid-induced differentiation factor (ATRAID; APR-3) in cells PubMed

    Go to the HIV-1, Human Interaction Database

    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 xenobiotic transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of osteoblast proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of protein catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of bone mineralization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of osteoblast differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in xenobiotic transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    all-trans retinoic acid-induced differentiation factor
    Names
    apoptosis related protein APR-3
    apoptosis-related protein 3

    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_001170795.4 → NP_001164266.1  all-trans retinoic acid-induced differentiation factor isoform c precursor

      See identical proteins and their annotated locations for NP_001164266.1

      Status: REVIEWED

      Source sequence(s)
      AC013403
      Consensus CDS
      CCDS62877.1
      UniProtKB/Swiss-Prot
      A8C1S2, A8K779, Q6UW56, Q96FF6, Q96RT2, Q9Y2R7, Q9Y5L7
      Related
      ENSP00000369518.4, ENST00000380171.9

    2. NM_016085.5 → NP_057169.2  all-trans retinoic acid-induced differentiation factor isoform a

      See identical proteins and their annotated locations for NP_057169.2

      Status: REVIEWED

      Source sequence(s)
      AC013403
      Consensus CDS
      CCDS46243.1
      UniProtKB/Swiss-Prot
      Q6UW56
      Related
      ENSP00000384033.3, ENST00000405489.7

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      27212041..27217183
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      27253676..27258822
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_080592.3: Suppressed sequence

      Description
      NM_080592.3: This RefSeq was removed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UW56.2 GenPept UniProtKB/Swiss-Prot:Q6UW56

    Gene LinkOut

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

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