Human Gene RHBDD3 (uc003aeq.1)
  Description: Homo sapiens rhomboid domain containing 3 (RHBDD3), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr22:29,655,844-29,663,914 Size: 8,071 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr22:29,656,049-29,661,615 Size: 5,567 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:29,655,844-29,663,914)mRNA (may differ from genome)Protein (386 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtPubMedTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RHBD3_HUMAN
DESCRIPTION: RecName: Full=Rhomboid domain-containing protein 3;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential).
SIMILARITY: Contains 1 UBA domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 25.53 RPKM in Testis
Total median expression: 441.20 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -147.40372-0.396 Picture PostScript Text
3' UTR -88.90205-0.434 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR022764 - Peptidase_S54_rhomboid_dom
IPR009060 - UBA-like

Pfam Domains:
PF00627 - UBA/TS-N domain
PF01694 - Rhomboid family

ModBase Predicted Comparative 3D Structure on Q9Y3P4
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004252 serine-type endopeptidase activity

Biological Process:
GO:0000165 MAPK cascade
GO:0001889 liver development
GO:0002673 regulation of acute inflammatory response
GO:0006508 proteolysis
GO:0009410 response to xenobiotic stimulus
GO:0032815 negative regulation of natural killer cell activation
GO:0045732 positive regulation of protein catabolic process
GO:0050708 regulation of protein secretion

Cellular Component:
GO:0005622 intracellular
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AL050346 - Novel human gene mapping to chomosome 22.
BC002705 - Homo sapiens rhomboid domain containing 3, mRNA (cDNA clone MGC:3580 IMAGE:3627843), complete cds.
BC018872 - Homo sapiens rhomboid domain containing 3, mRNA (cDNA clone IMAGE:3628089).
JD452729 - Sequence 433753 from Patent EP1572962.
JD177206 - Sequence 158230 from Patent EP1572962.
JD215838 - Sequence 196862 from Patent EP1572962.
JD077218 - Sequence 58242 from Patent EP1572962.
JD038149 - Sequence 19173 from Patent EP1572962.
JD338105 - Sequence 319129 from Patent EP1572962.
CR456411 - Homo sapiens C22orf3 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.C22orf3).
JD230962 - Sequence 211986 from Patent EP1572962.
JD451105 - Sequence 432129 from Patent EP1572962.
JD130335 - Sequence 111359 from Patent EP1572962.
KJ893465 - Synthetic construct Homo sapiens clone ccsbBroadEn_02859 RHBDD3 gene, encodes complete protein.
CU012971 - Homo sapiens RHBDD3, mRNA (cDNA clone IMAGE:100000133), complete cds, with stop codon, in Gateway system.
CU013259 - Homo sapiens RHBDD3, mRNA (cDNA clone IMAGE:100000037), complete cds, without stop codon, in Gateway system.
AB463229 - Synthetic construct DNA, clone: pF1KB8715, Homo sapiens RHBDD3 gene for rhomboid domain containing 3, without stop codon, in Flexi system.
CR457382 - Homo sapiens full open reading frame cDNA clone RZPDo834C0314D for gene C22orf3, chromosome 22 open reading frame 3; complete cds, incl. stopcodon.
JD251738 - Sequence 232762 from Patent EP1572962.
JD448081 - Sequence 429105 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: C22orf3, NM_012265, NP_036397, Q6I9X3, Q9UGQ7, Q9Y3P4, RHBD3_HUMAN
UCSC ID: uc003aeq.1
RefSeq Accession: NM_012265
Protein: Q9Y3P4 (aka RHBD3_HUMAN)
CCDS: CCDS13850.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_012265.1
exon count: 7CDS single in 3' UTR: no RNA size: 1738
ORF size: 1161CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2424.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.