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Aliases for RHBDD1 Gene
Aliases for RHBDD1 Gene
External Ids for RHBDD1 Gene
- HGNC: 23081
- Entrez Gene: 84236
- Ensembl: ENSG00000144468
- OMIM: 617515
- UniProtKB: Q8TEB9
Previous GeneCards Identifiers for RHBDD1 Gene
- GC02P227409
- GC02P227700
- GC02P219544
- GC02P226835
Summaries for RHBDD1 Gene
GeneCards Summary for RHBDD1 Gene
RHBDD1 (Rhomboid Domain Containing 1) is a Protein Coding gene. Diseases associated with RHBDD1 include Benign Mammary Dysplasia and Brain Glioblastoma Multiforme. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and endopeptidase activity. An important paralog of this gene is RHBDD3.
UniProtKB/Swiss-Prot Summary for RHBDD1 Gene
-
Intramembrane-cleaving serine protease that cleaves single transmembrane or multi-pass membrane proteins in the hydrophobic plane of the membrane, luminal loops and juxtamembrane regions. Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded membrane proteins. Required for the degradation process of some specific misfolded endoplasmic reticulum (ER) luminal proteins. Participates in the transfer of misfolded proteins from the ER to the cytosol, where they are destroyed by the proteasome in a ubiquitin-dependent manner. Functions in BIK, MPZ, PKD1, PTCRA, RHO, STEAP3 and TRAC processing. Involved in the regulation of exosomal secretion; inhibits the TSAP6-mediated secretion pathway. Involved in the regulation of apoptosis; modulates BIK-mediated apoptotic activity. Also plays a role in the regulation of spermatogenesis; inhibits apoptotic activity in spermatogonia.
Additional gene information for RHBDD1 Gene
- HGNC(23081)
- Entrez Gene(84236)
- Ensembl(ENSG00000144468)
- OMIM(617515)
- UniProtKB(Q8TEB9)
- Open Targets Platform(ENSG00000144468)
- Search for RHBDD1 at DataMed
- Search for RHBDD1 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RHBDD1 Gene
Genomics for RHBDD1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RHBDD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RHBDD1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RHBDD1
- Top Transcription factor binding sites by QIAGEN in the RHBDD1 gene promoter:
-
- AP-1
- AREB6
- ATF-2
- c-Jun
- C/EBPalpha
- Cdc5
- CREB
- CUTL1
- deltaCREB
- S8
Genomic Locations for RHBDD1 Gene
Genomic Locations for RHBDD1 Gene
- chr2:226,800,159-226,999,215
- (GRCh38/hg38)
- Size:
- 199,057 bases
- Orientation:
- Plus strand
- chr2:227,700,297-227,863,931
- (GRCh37/hg19)
- Size:
- 163,635 bases
- Orientation:
- Plus strand
Genomic View for RHBDD1 Gene
Genes around RHBDD1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q36.3 by HGNC
- 2q36.3 by Entrez Gene
- 2q36.3 by Ensembl
RHBDD1 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 RHBDD1 Gene
Proteins for RHBDD1 Gene
-
Protein details for RHBDD1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8TEB9-RHBL4_HUMAN
- Recommended name:
- Rhomboid-related protein 4
- Protein Accession:
- Q8TEB9
- Q495B9
- Q53S43
- Q5EBM8
- Q6P5V8
- Q8IV60
- Q9H057
Protein attributes for RHBDD1 Gene
- Size:
- 315 amino acids
- Molecular mass:
- 35823 Da
- Quaternary structure:
-
- Interacts (via C-terminal domain) with VCP. Interacts with ubiquitin and ubiquitinated proteins (By similarity). Interacts with BIK and STEAP3.
Protein Expression for RHBDD1 Gene
Post-translational modifications for RHBDD1 Gene
Other Protein References for RHBDD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences RHBDD1 Antibody
- Novus Biologicals Antibodies for RHBDD1
-
Abcam antibodies for RHBDD1
- Invitrogen Antibodies for RHBDD1 (AFLGC-RHBDD1)
- antibodies-online: Show 3 available RHBDD1 Antibodies ranked by validation data
-
Biorbyt antibodies for RHBDD1
-
Custom Antibody ServicesProSci Antibodies for RHBDD1
Protein Products
-
OriGene Purified Proteins for RHBDD1
- Search Origene for MassSpec and Protein Over-expression Lysates for RHBDD1
- Origene Custom Protein Services for RHBDD1
No data available for DME Specific Peptides for RHBDD1 Gene
Domains & Families for RHBDD1 Gene
Gene Families for RHBDD1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
- Predicted membrane proteins
- Transporters
Protein Domains for RHBDD1 Gene
- InterPro:
- Blocks:
-
- Rhomboid-like protein
- ProtoNet:
Suggested Antigen Peptide Sequences for RHBDD1 Gene
- GenScript: Design optimal peptide antigens:
-
- Rhomboid domain-containing protein 1 (RHBD1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8TEB9- Family:
-
- Belongs to the peptidase S54 family.
Function for RHBDD1 Gene
Molecular function for RHBDD1 Gene
- UniProtKB/Swiss-Prot Function:
- Intramembrane-cleaving serine protease that cleaves single transmembrane or multi-pass membrane proteins in the hydrophobic plane of the membrane, luminal loops and juxtamembrane regions. Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded membrane proteins. Required for the degradation process of some specific misfolded endoplasmic reticulum (ER) luminal proteins. Participates in the transfer of misfolded proteins from the ER to the cytosol, where they are destroyed by the proteasome in a ubiquitin-dependent manner. Functions in BIK, MPZ, PKD1, PTCRA, RHO, STEAP3 and TRAC processing. Involved in the regulation of exosomal secretion; inhibits the TSAP6-mediated secretion pathway. Involved in the regulation of apoptosis; modulates BIK-mediated apoptotic activity. Also plays a role in the regulation of spermatogenesis; inhibits apoptotic activity in spermatogonia.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=Cleaves type-1 transmembrane domains using a catalytic dyad composed of serine and histidine that are contributed by different transmembrane domains.; EC=3.4.21.105;.
- UniProtKB/Swiss-Prot Induction:
- Up-regulated by endoplasmic reticulum stress agents that induce the unfolded protein response (UPR).
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Inhibited by aprotinin.
Enzyme Numbers (IUBMB) for RHBDD1 Gene
Phenotypes From GWAS Catalog for RHBDD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004175 | endopeptidase activity | IBA | 21873635 |
| GO:0004252 | serine-type endopeptidase activity | IBA | 21873635 |
| GO:0008233 | peptidase activity | IEA | -- |
| GO:0008236 | serine-type peptidase activity | IEA | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for RHBDD1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RHBDD1 - Select products 50% OFF >
- * RHBDD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RHBDD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RHBDD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for RHBDD1
miRNA for RHBDD1 Gene
- miRTarBase miRNAs that target RHBDD1
-
- hsa-miR-218-5p (MIRT024241)
- hsa-miR-33a-5p (MIRT028195)
- mmu-miR-666-3p (MIRT577832)
- hsa-miR-1197 (MIRT735937)
- hsa-miR-1324 (MIRT737400)
- hsa-miR-1343-5p (MIRT737486)
- hsa-miR-2110 (MIRT738912)
- hsa-miR-29a-3p (MIRT739568)
- hsa-miR-29b-3p (MIRT739591)
- hsa-miR-29c-3p (MIRT739603)
- hsa-miR-302a-5p (MIRT739637)
- hsa-miR-3150a-3p (MIRT740283)
- hsa-miR-3160-3p (MIRT740529)
- hsa-miR-3175 (MIRT740681)
- hsa-miR-3195 (MIRT741062)
- hsa-miR-3197 (MIRT741103)
- hsa-miR-450a-2-3p (MIRT745589)
- hsa-miR-4649-3p (MIRT746486)
- hsa-miR-4665-3p (MIRT746750)
- hsa-miR-4733-3p (MIRT747970)
- hsa-miR-5093 (MIRT749686)
- hsa-miR-5192 (MIRT749954)
- hsa-miR-532-5p (MIRT750341)
- hsa-miR-543 (MIRT750427)
- hsa-miR-6087 (MIRT751921)
- hsa-miR-6731-5p (MIRT754031)
- hsa-miR-6763-5p (MIRT755025)
- hsa-miR-6765-5p (MIRT755074)
- hsa-miR-6810-5p (MIRT756668)
- hsa-miR-6825-5p (MIRT757012)
- hsa-miR-6857-5p (MIRT757769)
- hsa-miR-7160-5p (MIRT759324)
- hsa-miR-8085 (MIRT760235)
- hsa-miR-92a-1-5p (MIRT760529)
- hsa-miR-939-5p (MIRT760777)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RHBDD1
- Browse OriGene Inhibitory RNA Products For RHBDD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHBDD1
Clone Products
- Applied Biological Materials (abm): Clones for RHBDD1 - Select products 50% OFF >
- * RHBDD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG204515
- MG218691
- MR204515
- MR204515L3
- MR204515L4
- MR218691
- MR218691L3
- MR218691L4
- RC210708
- RC210708L1
- RC210708L2
- RC210708L3
- RC210708L4
- RC229870
- RC229870L3
- RC229870L4
- RG210708
- RG229870
- RR213669
- RR213669L3
- RR213669L4
- MR204515L3V
- MR204515L4V
- MR218691L3V
- MR218691L4V
- RC210708L1V
- RC210708L2V
- RC210708L3V
- RC210708L4V
- RC229870L3V
- RC229870L4V
- RR213669L3V
- RR213669L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RHBDD1
- Addgene plasmids for RHBDD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RHBDD1
Cell Line Products
-
Horizon Cell Lines for RHBDD1
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RHBDD1 Gene
Localization for RHBDD1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for RHBDD1 Gene
- Endoplasmic reticulum membrane. Multi-pass membrane protein. Mitochondrion membrane. Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| mitochondrion | 4 |
| endoplasmic reticulum | 4 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| nucleus | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
| cytosol | 0 |
- Endoplasmic reticulum (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IBA,IDA | 22795130 |
| GO:0005789 | endoplasmic reticulum membrane | ISS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for RHBDD1 Gene
Interacting Proteins for RHBDD1 Gene
Selected Interacting proteins:
Q8TEB9-RHBL4_HUMAN
ENSP00000375914
for RHBDD1 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for RHBDD1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006508 | proteolysis | IEA | -- |
| GO:0006915 | apoptotic process | IEA | -- |
| GO:0007283 | spermatogenesis | IEA | -- |
| GO:0010954 | positive regulation of protein processing | IEA,ISS | -- |
| GO:0030154 | cell differentiation | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for RHBDD1 Gene
Transcripts for RHBDD1 Gene
mRNA/cDNA for RHBDD1 Gene
- 5 REFSEQ mRNAs :
- 22 NCBI additional mRNA sequence :
- 15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000341329 4883 nts (view in UCSC)
- ENST00000392062 5061 nts (view in UCSC)
- ENST00000409053 538 nts (view in UCSC)
- ENST00000423616 556 nts (view in UCSC)
- ENST00000424132 577 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for RHBDD1 - Select products 50% OFF >
- * RHBDD1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for RHBDD1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RHBDD1
-
Santa Cruz Biotechnology (SCBT) CRISPR for RHBDD1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RHBDD1
- Browse OriGene Inhibitory RNA Products For RHBDD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHBDD1
Clone Products
- Applied Biological Materials (abm): Clones for RHBDD1 - Select products 50% OFF >
- * RHBDD1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG204515
- MG218691
- MR204515
- MR204515L3
- MR204515L4
- MR218691
- MR218691L3
- MR218691L4
- RC210708
- RC210708L1
- RC210708L2
- RC210708L3
- RC210708L4
- RC229870
- RC229870L3
- RC229870L4
- RG210708
- RG229870
- RR213669
- RR213669L3
- RR213669L4
- MR204515L3V
- MR204515L4V
- MR218691L3V
- MR218691L4V
- RC210708L1V
- RC210708L2V
- RC210708L3V
- RC210708L4V
- RC229870L3V
- RC229870L4V
- RR213669L3V
- RR213669L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RHBDD1
- Addgene plasmids for RHBDD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RHBDD1
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7 | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - |
Relevant External Links for RHBDD1 Gene
- GeneLoc Exon Structure for
- RHBDD1
Expression for RHBDD1 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (15.9) and Islet of Langerhans (7.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RHBDD1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RHBDD1
SOURCE GeneReport for Unigene cluster for RHBDD1 Gene:
Hs.471514mRNA Expression by UniProt/SwissProt for RHBDD1 Gene:
Q8TEB9-RHBL4_HUMAN
Tissue specificity:
Expressed strongly in testis.
Evidence on tissue expression from TISSUES for RHBDD1 Gene
- Nervous system(4.6)
- Pancreas(4.1)
- Eye(4.1)
Primer Products
-
OriGene qPCR primer pairs for RHBDD1
-
OriGene qPCR primer pairs and template standards for RHBDD1
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RHBDD1 Gene
Orthologs for RHBDD1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | RHBDD1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | RHBDD1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | RHBDD1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Rhbdd1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Rhbdd1 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | RHBDD1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | RHBDD1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | RHBDD1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | RHBDD1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | rhbdd1 30 |
|
||
| Str.7235 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | rhbdd1 30 31 |
|
OneToOne | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | RBL14 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os01g0283500 30 |
|
- Species where no ortholog for RHBDD1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- 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)
- Fruit Fly (Drosophila melanogaster)
- 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 Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for RHBDD1 Gene
- ENSEMBL:
- Gene Tree for RHBDD1 (if available)
- TreeFam:
- Gene Tree for RHBDD1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for RHBDD1: view image
Paralogs for RHBDD1 Gene
Variants for RHBDD1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RHBDD1 Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 769592 | Benign: not provided | 226,995,471(+) | C/T | SYNONYMOUS_VARIANT | |
| rs35731955 | - | p.Ala110Thr |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv4178n100 | CNV | gain | 25217958 |
| dgv764e214 | CNV | loss | 21293372 |
| esv2667541 | CNV | deletion | 23128226 |
| esv3561096 | CNV | deletion | 23714750 |
| esv3594520 | CNV | loss | 21293372 |
| esv3594523 | CNV | gain | 21293372 |
| esv3594524 | CNV | loss | 21293372 |
| esv3594525 | CNV | loss | 21293372 |
| nsv3191 | CNV | insertion | 18451855 |
| nsv473056 | CNV | novel sequence insertion | 20440878 |
| nsv584594 | CNV | gain | 21841781 |
Residual Variation Intolerance Score:
89.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.99;
60.11% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RHBDD1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- RHBDD1
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHBDD1 Gene
Disorders for RHBDD1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| benign mammary dysplasia |
|
|
| brain glioblastoma multiforme |
|
|
Search RHBDD1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for RHBDD1
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for RHBDD1 Gene
Publications for RHBDD1 Gene
- Ubiquitin-dependent intramembrane rhomboid protease promotes ERAD of membrane proteins. (PMID: 22795130) Fleig L … Lemberg MK (Molecular cell 2012) 3 4
- Exosome-related multi-pass transmembrane protein TSAP6 is a target of rhomboid protease RHBDD1-induced proteolysis. (PMID: 22624035) Wan C … Wang L (PloS one 2012) 3 4
- A novel member of the Rhomboid family, RHBDD1, regulates BIK-mediated apoptosis. (PMID: 18953687) Wang Y … Wang L (Cellular and molecular life sciences : CMLS 2008) 3 4
- Framingham Heart Study genome-wide association: results for pulmonary function measures. (PMID: 17903307) Wilk JB … O'Connor GT (BMC medical genetics 2007) 3 41
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
ExternalLinks
Products for RHBDD1 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for RHBDD1
- Search Origene for MassSpec and Protein Over-expression Lysates for RHBDD1
- Origene Custom Protein Services for RHBDD1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RHBDD1
- Browse OriGene Inhibitory RNA Products For RHBDD1
- OriGene qPCR primer pairs for RHBDD1
- OriGene qPCR primer pairs and template standards for RHBDD1
- OriGene CRISPR knockouts for RHBDD1
- MG204515
- MG218691
- MR204515
- MR204515L3
- MR204515L4
- MR218691
- MR218691L3
- MR218691L4
- RC210708
- RC210708L1
- RC210708L2
- RC210708L3
- RC210708L4
- RC229870
- RC229870L3
- RC229870L4
- RG210708
- RG229870
- RR213669
- RR213669L3
- RR213669L4
- MR204515L3V
- MR204515L4V
- MR218691L3V
- MR218691L4V
- RC210708L1V
- RC210708L2V
- RC210708L3V
- RC210708L4V
- RC229870L3V
- RC229870L4V
- RR213669L3V
- RR213669L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For RHBDD1
- Sino Biological Human cDNA Clone for RHBDD1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for RHBDD1
- Novus Biologicals proteins and lysates for RHBDD1
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- Abcam antibodies for RHBDD1
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- Browse Primary Antibodies
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- Invitrogen Antibodies for RHBDD1 (AFLGC-RHBDD1)
- VectorBuilder Custom and pre-made DNA vectors for RHBDD1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for RHBDD1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for RHBDD1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for RHBDD1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for RHBDD1
- Addgene plasmids for RHBDD1
- antibodies-online: Show 3 available RHBDD1 Antibodies ranked by validation data
- antibodies-online: Search results for available RHBDD1 related products ranked by validation data
- antibodies-online: Search results for available RHBDD1 related products ranked by validation data
- Custom Antibody ServicesProSci Antibodies for RHBDD1
- Search for RHBDD1 Proteins at ProSci
- Horizon Cell Lines for RHBDD1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RHBDD1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RHBDD1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for RHBDD1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHBDD1
- Biorbyt antibodies for RHBDD1
Sources for RHBDD1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB