U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 25807, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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 be involved in proteolysis. Predicted to act upstream of or within several processes, including liver development; negative regulation of natural killer cell activation; and positive regulation of protein catabolic process. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 5.8), prostate (RPKM 4.1) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
22q12.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (29259852..29268163, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (29723344..29731654, complement)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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. Bidirectionality and transcriptional activity of the EWSR1 promoter region. Möller E, et al. Oncol Rep, 2009 Mar. PMID 19212622
  3. Isolation and characterization of a novel pituitary tumor apoptosis gene. Bahar A, et al. Mol Endocrinol, 2004 Jul. PMID 15105437
  4. Emerging role of rhomboid family proteins in mammalian biology and disease. Bergbold N, et al. Biochim Biophys Acta, 2013 Dec. PMID 23562403
  5. Sampling the membrane: function of rhomboid-family proteins. Lemberg MK. Trends Cell Biol, 2013 May. PMID 23369641

See all (30) 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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
rhomboid domain-containing protein 3
Names
hypothetical protein HS984G1A
pituitary tumor apoptosis

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_2023_10

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous