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    RHBDD3 rhomboid domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 25807, updated on 10-Dec-2024

    Summary

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    Official Symbol
    RHBDD3provided by HGNC
    Official Full Name
    rhomboid domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:1308
    See related
    Ensembl:ENSG00000100263 AllianceGenome:HGNC:1308
    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
    PTAG; C22orf3; HS984G1A
    Summary
    Predicted to enable serine-type endopeptidase activity. Predicted to act upstream of or within several processes, including MAPK cascade; negative regulation of natural killer cell activation; and positive regulation of protein catabolic process. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 5.8), prostate (RPKM 4.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RHBDD3 in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (29259852..29268163, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (29723344..29731654, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29655841..29664152, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29611869-29612448 Neighboring gene uncharacterized LOC124905099 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29612449-29613028 Neighboring gene EMI domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29613609-29614188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29614189-29614768 Neighboring gene uncharacterized LOC105372985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29619669-29620170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29629634-29630134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29630135-29630635 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29655585-29656439 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29656440-29657293 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29663849-29664720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18813 Neighboring gene EWS RNA binding protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29698939-29699439 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29701647-29702392 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29702393-29703136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18815 Neighboring gene growth arrest specific 2 like 1

    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. Primary colorectal tumors fail to express the proapoptotic mediator PTAG and its reexpression augments drug-induced apoptosis. Bahar A, et al. Genes Chromosomes Cancer, 2007 Feb. PMID 17117413
    2. Isolation and characterization of a novel pituitary tumor apoptosis gene. Bahar A, et al. Mol Endocrinol, 2004 Jul. PMID 15105437
    3. Bidirectionality and transcriptional activity of the EWSR1 promoter region. Möller E, et al. Oncol Rep, 2009 Mar. PMID 19212622
    4. Sampling the membrane: function of rhomboid-family proteins. Lemberg MK. Trends Cell Biol, 2013 May. PMID 23369641
    5. Emerging role of rhomboid family proteins in mammalian biology and disease. Bergbold N, et al. Biochim Biophys Acta, 2013 Dec. PMID 23562403

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. RHBDD3 is a target gene of the BACH1 transcription factor according to ChIP-seq analysis in HEK 293 cells.
      Title: The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.
    2. the EWSR1 promoter functions in a bidirectional manner, thereby regulating also RHBDD3
      Title: Bidirectionality and transcriptional activity of the EWSR1 promoter region.
    3. Loss of PTAG contributes to a blunted apoptotic response and is likely to predispose cells toward malignant transformation and resistance to chemotherapeutic interventions.
      Title: Primary colorectal tumors fail to express the proapoptotic mediator PTAG and its reexpression augments drug-induced apoptosis.
    4. isolation of a novel differentially methylated chromosome 22 CpG island-associated gene PTAG
      Title: Isolation and characterization of a novel pituitary tumor apoptosis gene.
    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
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    EBI GWAS Catalog
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables serine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in liver development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of natural killer cell activation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of acute inflammatory response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of protein secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    rhomboid domain-containing protein 3
    Names
    hypothetical protein HS984G1A
    pituitary tumor apoptosis

    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_001329536.1 → NP_001316465.1  rhomboid domain-containing protein 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AL031186
      Consensus CDS
      CCDS13850.1
      UniProtKB/Swiss-Prot
      Q6I9X3, Q9UGQ7, Q9Y3P4
      Conserved Domains (1) summary
      cd14289
      Location:327 → 370
      UBA_RHBD3; UBA domain found in vertebrate rhomboid domain-containing protein 3 (RHBD3)

    2. NM_012265.3 → NP_036397.1  rhomboid domain-containing protein 3

      See identical proteins and their annotated locations for NP_036397.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AL050346, HY120483
      Consensus CDS
      CCDS13850.1
      UniProtKB/Swiss-Prot
      Q6I9X3, Q9UGQ7, Q9Y3P4
      Related
      ENSP00000216085.7, ENST00000216085.12
      Conserved Domains (1) summary
      cd14289
      Location:327 → 370
      UBA_RHBD3; UBA domain found in vertebrate rhomboid domain-containing protein 3 (RHBD3)

    RNA

    1. NR_138044.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon and contains another alternate exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AL031186
      Related
      ENST00000413137.6

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      29259852..29268163 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452209.2 → XP_024307977.1  rhomboid domain-containing protein 3 isoform X1

      Conserved Domains (1) summary
      cd14289
      Location:330 → 373
      UBA_RHBD3; UBA domain found in vertebrate rhomboid domain-containing protein 3 (RHBD3)

    2. XM_006724224.5 → XP_006724287.1  rhomboid domain-containing protein 3 isoform X2

      Conserved Domains (1) summary
      cd14289
      Location:199 → 242
      UBA_RHBD3; UBA domain found in vertebrate rhomboid domain-containing protein 3 (RHBD3)

    3. XM_024452208.2 → XP_024307976.1  rhomboid domain-containing protein 3 isoform X1

      Conserved Domains (1) summary
      cd14289
      Location:330 → 373
      UBA_RHBD3; UBA domain found in vertebrate rhomboid domain-containing protein 3 (RHBD3)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      29723344..29731654 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325486.1 → XP_054181461.1  rhomboid domain-containing protein 3 isoform X1

    2. XM_054325487.1 → XP_054181462.1  rhomboid domain-containing protein 3 isoform X2

    3. XM_054325485.1 → XP_054181460.1  rhomboid domain-containing protein 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y3P4.1 GenPept UniProtKB/Swiss-Prot:Q9Y3P4

    Gene LinkOut

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

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