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. 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.
No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RHBDL3 Gene
Genomics for RHBDL3 Gene
Regulatory Elements for RHBDL3 Gene
Enhancers for RHBDL3 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around RHBDL3 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the RHBDL3 gene promoter:
Regulatory Element Products
Genomic Location for RHBDL3 Gene
- Chromosome:
- 17
- Start:
- 32,266,131 bp from pter
- End:
- 32,324,661 bp from pter
- Size:
- 58,531 bases
- Orientation:
- Plus strand
Genomic View for RHBDL3 Gene
Genes around RHBDL3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q11.2 by Ensembl
- 17q11.2 by Entrez Gene
- 17q11.2 by HGNC
RHBDL3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
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
- Invitrogen Antibodies for RHBDL3
- Search GeneTex for Antibodies for RHBDL3
Protein Products
-
OriGene Purified Proteins for RHBDL3
- Search Origene for MassSpec and Protein Over-expression Lysates for RHBDL3
- Origene Custom Protein Services for RHBDL3
- Search GeneTex for Proteins for RHBDL3
Assay Products
Domains & Families for RHBDL3 Gene
Gene Families for RHBDL3 Gene
Protein Domains for RHBDL3 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for RHBDL3 Gene
Graphical View of Domain Structure for InterPro Entry
P58872UniProtKB/Swiss-Prot:
RHBL3_HUMAN :- Contains 2 EF-hand domains.
- Belongs to the peptidase S54 family.
- Domain:
-
- Contains 2 EF-hand domains.
- 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
| 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
-
Taconic Biosciences Mouse Models for RHBDL3
- Cyagen custom Knockout/knockin (KOKI) mouse models for RHBDL3
-
-
ViGene Biosciences lentiviral particle packaged cDNA for RHBDL3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for RHBDL3 gene
- Search ViGene Biosciences for RHBDL3
CRISPR Products
-
OriGene CRISPR knockouts for RHBDL3
- GenScript: Design CRISPR guide RNA sequences for RHBDL3
miRNA for RHBDL3 Gene
- miRTarBase miRNAs that target RHBDL3
miRNA Products
- Search ViGene Biosciences for RHBDL3
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
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
Flow Cytometry Products
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 3 |
| peroxisome | 1 |
| nucleus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005743 | mitochondrial inner membrane | IBA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IBA | -- |
Pathways & Interactions for RHBDL3 Gene
No Data Available
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
- GenScript: Design CRISPR guide RNA sequences for RHBDL3
miRNA Products
- Search ViGene Biosciences for RHBDL3
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
Flow Cytometry Products
| 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
This gene is overexpressed in Heart - Atrial Appendage (x5.8), Brain - Cortex (x5.5), and Brain - Frontal Cortex (BA9) (x5.2).
This gene is overexpressed in Retina (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RHBDL3 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of RHBDL3 Gene:
RHBDL3SOURCE GeneReport for Unigene cluster for RHBDL3 Gene:
Hs.655027Primer Products
-
OriGene qPCR primer pairs for RHBDL3
No data available for mRNA Expression by UniProt/SwissProt 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 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | RHBDL3 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Rhbdl3 34 16 35 |
|
||
| dog (Canis familiaris) |
Mammalia | RHBDL3 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Rhbdl3 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | RHBDL3 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | RHBDL3 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | RHBDL3 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | RHBDL3 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC101732375 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | rhbdl3 34 35 |
|
||
| wufb98c11 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | stet 34 35 |
|
||
| rho 35 |
|
ManyToMany | |||
| ru 35 |
|
ManyToMany | |||
| rho-4 35 |
|
ManyToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005058 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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 | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs10585399 | -- | 32,302,551(+) | TATAT(-/A)TTTTT | intron-variant | |
| rs10586485 | -- | 32,309,048(+) | GTGAC(-/AG)AGAGA | intron-variant | |
| rs10853148 | -- | 32,312,219(+) | TTGCT(C/T)GAGCC | intron-variant | |
| rs11080177 | -- | 32,282,953(+) | GACTG(A/G)GACTC | intron-variant, upstream-variant-2KB | |
| rs11080178 | -- | 32,282,965(+) | TGACT(C/G)TTGCT | intron-variant, upstream-variant-2KB |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv827949 | CNV | gain | 20364138 |
| nsv574693 | CNV | gain | 21841781 |
| nsv574692 | CNV | gain | 21841781 |
| nsv1148266 | CNV | deletion | 26484159 |
| nsv1142215 | CNV | tandem duplication | 24896259 |
| nsv1140158 | CNV | deletion | 24896259 |
| nsv1134639 | CNV | deletion | 24896259 |
| nsv1120336 | CNV | tandem duplication | 24896259 |
| nsv1115519 | CNV | duplication | 24896259 |
| esv3554320 | CNV | deletion | 23714750 |
| esv29073 | CNV | gain | 19812545 |
| esv2715835 | CNV | deletion | 23290073 |
| esv2715834 | CNV | deletion | 23290073 |
| esv2672269 | CNV | deletion | 23128226 |
| esv2621296 | CNV | insertion | 19546169 |
| esv2238058 | CNV | deletion | 18987734 |
| esv1001216 | CNV | deletion | 20482838 |
| dgv1456n106 | CNV | deletion | 24896259 |
Residual Variation Intolerance Score:
14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
9.69;
89.25% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links 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
Relevant External Links for RHBDL3
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- 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) Jaszai J. … Brand M. (Mech. Dev. 2002) 2 3 4 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
- Ubiquitin-dependent intramembrane rhomboid protease promotes ERAD of membrane proteins. (PMID: 22795130) Fleig L. … Lemberg M.K. (Mol. Cell 2012) 3 64
- DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody M.C. … Nusbaum C. (Nature 2006) 4 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 4 64
Products for RHBDL3 Gene
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- OriGene Purified Proteins for RHBDL3
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- OriGene qPCR primer pairs for RHBDL3
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- Novus Biologicals Antibodies for RHBDL3
- Novus Biologicals proteins and lysates for RHBDL3
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Taconic Biosciences Mouse Models for RHBDL3
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- 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
- Search ViGene Biosciences for RHBDL3
- Horizon Cell Lines for RHBDL3
- Cyagen custom Knockout/knockin (KOKI) mouse models for RHBDL3
- 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
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
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
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- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
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- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
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- (138) UDN
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- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab