Aliases for RHBDL3 Gene
Aliases for RHBDL3 Gene
External Ids for RHBDL3 Gene
- HGNC: 16502
- Entrez Gene: 162494
- Ensembl: ENSG00000141314
- UniProtKB: P58872
Previous HGNC Symbols for RHBDL3 Gene
- RHBDL4
Previous GeneCards Identifiers for RHBDL3 Gene
- GC00U991136
- GC17P027618
- GC17P030593
- GC17P026782
Summaries for RHBDL3 Gene
GeneCards Summary for RHBDL3 Gene
RHBDL3 (Rhomboid Like 3) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding and serine-type endopeptidase activity. An important paralog of this gene is RHBDL1.
UniProtKB/Swiss-Prot for RHBDL3 Gene
-
May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors.
Additional gene information for RHBDL3 Gene
- Monarch Initiative
- Search for RHBDL3 at DataMed
- Search for RHBDL3 at HumanCyc
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RHBDL3 Gene
Genomics for RHBDL3 Gene
GeneHancer (GH) Regulatory Elements for RHBDL3 Gene
- Top Transcription factor binding sites by QIAGEN in the RHBDL3 gene promoter:
Regulatory Element Products
Genomic Locations for RHBDL3 Gene
- chr17:32,266,131-32,324,661
- (GRCh38/hg38)
- Size:
- 58,531 bases
- Orientation:
- Plus strand
- chr17:30,593,195-30,651,680
- (GRCh37/hg19)
Genomic View for RHBDL3 Gene
- Cytogenetic band:
-
- 17q11.2 by Ensembl
- 17q11.2 by Entrez Gene
- 17q11.2 by HGNC


RefSeq DNA sequence for RHBDL3 Gene
Proteins for RHBDL3 Gene
-
Protein details for RHBDL3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P58872-RHBL3_HUMAN
- Recommended name:
- Rhomboid-related protein 3
- Protein Accession:
- P58872
- A6NMH1
- Q495Y4
- Q495Y5
- Q495Y6
Protein attributes for RHBDL3 Gene
- Size:
- 404 amino acids
- Molecular mass:
- 45245 Da
- Quaternary structure:
- No Data Available
Protein Expression for RHBDL3 Gene
Selected DME Specific Peptides for RHBDL3 Gene
- P58872:
-
- GVPLEMVHG
- GRAVWLRF
Post-translational modifications for RHBDL3 Gene
Other Protein References for RHBDL3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for RHBDL3
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Protein Products
-
OriGene Purified Proteins for RHBDL3
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-
Quality Products:
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Assay Products
Domains & Families for RHBDL3 Gene
Gene Families for RHBDL3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted membrane proteins
Protein Domains for RHBDL3 Gene
Suggested Antigen Peptide Sequences for RHBDL3 Gene
Graphical View of Domain Structure for InterPro Entry
P58872- Family:
-
- Belongs to the peptidase S54 family.
Function for RHBDL3 Gene
Molecular function for RHBDL3 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- Cleaves type-1 transmembrane domains using a catalytic dyad composed of serine and histidine that are contributed by different transmembrane domains.
- UniProtKB/Swiss-Prot Function:
- May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors.
Enzyme Numbers (IUBMB) for RHBDL3 Gene
Phenotypes From GWAS Catalog for RHBDL3 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004252 | serine-type endopeptidase activity | IBA | -- |
GO:0005509 | calcium ion binding | IEA | -- |
GO:0008233 | peptidase activity | IEA | -- |
GO:0008236 | serine-type peptidase activity | IEA | -- |
GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for RHBDL3 Gene
- MGI mutant phenotypes for RHBDL3:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for RHBDL3:
Animal Models for RHBDL3 Gene
- MGI Knock Outs for RHBDL3:
-
- Rhbdl3 tm1b(EUCOMM)Wtsi
Animal Model Products
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-
-
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-
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CRISPR Products
-
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RHBDL3
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miRNA for RHBDL3 Gene
- miRTarBase miRNAs that target RHBDL3
miRNA Products
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Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RHBDL3
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-
ViGene Biosciences ready-to-package AAV shRNAs for RHBDL3 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available RHBDL3 gene related products
- orf clones - Search results for available RHBDL3 gene related products
- Applied Biological Materials Clones for RHBDL3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for RHBDL3
-
ViGene Biosciences adenoviral particle packaged cDNA for RHBDL3 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for RHBDL3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for RHBDL3 gene
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RHBDL3 Gene
Localization for RHBDL3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for RHBDL3 Gene
- Membrane; Multi-pass membrane protein.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IBA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for RHBDL3 Gene
Pathways & Interactions for RHBDL3 Gene
Interacting Proteins for RHBDL3 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006508 | proteolysis | IEA | -- |
GO:0016485 | protein processing | IBA | -- |
No data available for Pathways by source and SIGNOR curated interactions for RHBDL3 Gene
Transcripts for RHBDL3 Gene
mRNA/cDNA for RHBDL3 Gene
- (14) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (46) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for RHBDL3 Gene
CRISPR Products
-
OriGene CRISPR knockouts for RHBDL3
- genomics-online: gRNA clones - Search results for available RHBDL3 gene related products
- Applied Biological Materials CRISPR for RHBDL3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RHBDL3
- GenScript: Design CRISPR guide RNA sequences for RHBDL3
miRNA Products
- Search ViGene Biosciences for RHBDL3
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RHBDL3
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- genomics-online: shRNA clones - Search results for available RHBDL3 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for RHBDL3 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for RHBDL3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RHBDL3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available RHBDL3 gene related products
- orf clones - Search results for available RHBDL3 gene related products
- Applied Biological Materials Clones for RHBDL3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||
SP4: | - | - |
Expression for RHBDL3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Neural Tube (Nervous System)
- Roof Plate Cells Mesencephalic Roof Plate
- Diencephalon
- Mesencephalic Roof Plate
- Inner Cell Mass (Early Embryonic Tissues)
- Neural Ectoderm (Nervous System)
-
Eye (Sensory Organs)
mRNA differential expression in normal tissues according to GTEx for RHBDL3 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RHBDL3 Gene
NURSA nuclear receptor signaling pathways regulating expression of RHBDL3 Gene:
RHBDL3SOURCE GeneReport for Unigene cluster for RHBDL3 Gene:
Hs.655027Evidence on tissue expression from TISSUES for RHBDL3 Gene
- Nervous system(4.7)
Primer Products
-
OriGene qPCR primer pairs for RHBDL3
- genomics-online: primer clones - Search results for available RHBDL3 gene related products
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RHBDL3 Gene
Orthologs for RHBDL3 Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | RHBDL3 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | RHBDL3 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Rhbdl3 33 16 34 |
|
||
dog (Canis familiaris) |
Mammalia | RHBDL3 33 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Rhbdl3 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | RHBDL3 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | RHBDL3 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | RHBDL3 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | RHBDL3 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC101732375 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | rhbdl3 33 34 |
|
||
wufb98c11 33 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | stet 33 34 |
|
||
rho 34 |
|
ManyToMany | |||
ru 34 |
|
ManyToMany | |||
rho-4 34 |
|
ManyToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005058 33 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
ManyToMany |
- Species where no ortholog for RHBDL3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for RHBDL3 Gene
(2) SIMAP similar genes for RHBDL3 Gene using alignment to 5 proteins:
Variants for RHBDL3 Gene
SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000029421 | -- | 32,315,970(+) | C/T | intron_variant | |
rs1000101283 | -- | 32,316,807(+) | C/T | intron_variant | |
rs1000147363 | -- | 32,320,096(+) | C/A/T | intron_variant | |
rs1000158746 | -- | 32,319,739(+) | C/T | intron_variant | |
rs1000223452 | -- | 32,279,682(+) | C/T | genic_upstream_transcript_variant, intron_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1456n106 | CNV | deletion | 24896259 |
esv1001216 | CNV | deletion | 20482838 |
esv2238058 | CNV | deletion | 18987734 |
esv2621296 | CNV | insertion | 19546169 |
esv2672269 | CNV | deletion | 23128226 |
esv2715834 | CNV | deletion | 23290073 |
esv2715835 | CNV | deletion | 23290073 |
esv29073 | CNV | gain | 19812545 |
esv3554320 | CNV | deletion | 23714750 |
nsv1115519 | CNV | duplication | 24896259 |
nsv1120336 | CNV | tandem duplication | 24896259 |
nsv1134639 | CNV | deletion | 24896259 |
nsv1140158 | CNV | deletion | 24896259 |
nsv1142215 | CNV | tandem duplication | 24896259 |
nsv1148266 | CNV | deletion | 26484159 |
nsv574692 | CNV | gain | 21841781 |
nsv574693 | CNV | gain | 21841781 |
nsv827949 | CNV | gain | 20364138 |
Additional Variant Information for RHBDL3 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- RHBDL3
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHBDL3 Gene
Disorders for RHBDL3 Gene
Additional Disease Information for RHBDL3
No disorders were found for RHBDL3 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RHBDL3 Gene
Publications for RHBDL3 Gene
- Cloning and expression of Ventrhoid, a novel vertebrate homologue of the Drosophila EGF pathway gene rhomboid. (PMID: 11900977) Jászai J … Brand M (Mechanisms of development 2002) 2 3 4 58
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
- The rhomboid-like superfamily: molecular mechanisms and biological roles. (PMID: 25062361) Freeman M (Annual review of cell and developmental biology 2014) 3 58
- Emerging role of rhomboid family proteins in mammalian biology and disease. (PMID: 23562403) Bergbold N … Lemberg MK (Biochimica et biophysica acta 2013) 3 58
- Sampling the membrane: function of rhomboid-family proteins. (PMID: 23369641) Lemberg MK (Trends in cell biology 2013) 3 58
Products for RHBDL3 Gene
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for available RHBDL3 related products ranked by validation data
- antibodies-online: Search results for available RHBDL3 related products ranked by validation data
- antibodies-online: Search results for 3 available RHBDL3 Proteins ranked by validation data
- Compare Top RHBDL3 Proteins
- Quality Products:
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Sources for RHBDL3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
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- (30) GeneAnnot
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- (32) SOURCE
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- (37) FlyBase
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- (42) GenAtlas
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- (47) Atlas
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- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
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- (55) miRBase
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- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
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- (84) Vector BioLabs
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- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew