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Aliases for RHBDD1 Gene

Aliases for RHBDD1 Gene

  • Rhomboid Domain Containing 1 2 3 5
  • Rhomboid Domain-Containing Protein 1 3 4
  • Rhomboid-Like Protein 4 3 4
  • RHBDL4 3 4
  • RRP4 3 4
  • Rhomboid-Related Protein 4 3
  • EC 3.4.21.105 4

External Ids for RHBDD1 Gene

Previous GeneCards Identifiers for RHBDD1 Gene

  • GC02P227409
  • GC02P227700
  • GC02P219544

Summaries for RHBDD1 Gene

GeneCards Summary for RHBDD1 Gene

RHBDD1 (Rhomboid Domain Containing 1) is a Protein Coding gene. GO annotations related to this gene include serine-type endopeptidase activity and endopeptidase activity.

UniProtKB/Swiss-Prot 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

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RHBDD1 Gene

Genomics for RHBDD1 Gene

Regulatory Elements for RHBDD1 Gene

Enhancers for RHBDD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H226788 2 FANTOM5 Ensembl ENCODE dbSUPER 21.5 -40.2 -40173 13 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 RHBDD1 ENSG00000261379 IRS1 GC02P226775
GH02H226834 1.4 ENCODE dbSUPER 14 +2.0 1953 6 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 RHBDD1 IRS1 PIR31520 GC02P226865
GH02H226753 1.5 Ensembl ENCODE dbSUPER 10.9 -76.5 -76489 10 FOXA2 MLX ZFP64 ARID4B DMAP1 YY1 FOS ZC3H11A REST MIER2 IRS1 RHBDD1 GC02P226775 MIR5702
GH02H226673 1.4 Ensembl ENCODE dbSUPER 10 -162.0 -162031 0 FEZF1 ZEB1 ZNF366 ZSCAN5C RCOR1 ZNF548 ZNF391 DEK CEBPB ZNF488 RHBDD1 MIR5702 GC02P226775
GH02H227324 1.4 ENCODE dbSUPER 9.8 +490.4 490361 3 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 CBX5 MFF IRS1 RHBDD1 LOC654841 STIP1P2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RHBDD1 on UCSC Golden Path with GeneCards custom track

Promoters for RHBDD1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000131373 519 1801 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143

Genomic Location for RHBDD1 Gene

Chromosome:
2
Start:
226,835,581 bp from pter
End:
226,999,215 bp from pter
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:
RHBDD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RHBDD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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.
    Miscellaneous:
    • According to PubMed:22795130; it is not localized in the mitochondrion.

    Three dimensional structures from OCA and Proteopedia for RHBDD1 Gene

    Alternative splice isoforms for RHBDD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RHBDD1 Gene

Post-translational modifications for RHBDD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Suggested Antigen Peptide Sequences for RHBDD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TEB9

UniProtKB/Swiss-Prot:

RHBL4_HUMAN :
  • Belongs to the peptidase S54 family.
Family:
  • Belongs to the peptidase S54 family.
genes like me logo Genes that share domains with RHBDD1: view

Function for RHBDD1 Gene

Molecular function for RHBDD1 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 EnzymeRegulation:
Inhibited by aprotinin.
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 Induction:
Up-regulated by endoplasmic reticulum stress agents that induce the unfolded protein response (UPR).

Enzyme Numbers (IUBMB) for RHBDD1 Gene

Phenotypes From GWAS Catalog for RHBDD1 Gene

Gene Ontology (GO) - Molecular Function for RHBDD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with RHBDD1: view

Phenotypes for RHBDD1 Gene

GenomeRNAi human phenotypes for RHBDD1:
genes like me logo Genes that share phenotypes with RHBDD1: view

Animal Model Products

CRISPR Products

miRNA for RHBDD1 Gene

miRTarBase miRNAs that target RHBDD1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RHBDD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RHBDD1 gene
Compartment Confidence
mitochondrion 4
endoplasmic reticulum 4
plasma membrane 1
extracellular 1
peroxisome 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RHBDD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum IDA,IEA 22795130
GO:0005789 endoplasmic reticulum membrane ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RHBDD1: view

Pathways & Interactions for RHBDD1 Gene

SuperPathways for RHBDD1 Gene

No Data Available

Interacting Proteins for RHBDD1 Gene

Gene Ontology (GO) - Biological Process for RHBDD1 Gene

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 ISS --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with RHBDD1: view

No data available for Pathways by source and SIGNOR curated interactions for RHBDD1 Gene

Drugs & Compounds for RHBDD1 Gene

No Compound Related Data Available

Transcripts for RHBDD1 Gene

Unigene Clusters for RHBDD1 Gene

Rhomboid domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RHBDD1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for RHBDD1 Gene

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
ECgene alternative splicing isoforms for
RHBDD1

Expression for RHBDD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RHBDD1 Gene

Protein differential expression in normal tissues from HIPED 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, PaxDb, MaxQB, and MOPED for RHBDD1 Gene



Protein tissue co-expression partners for RHBDD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RHBDD1 Gene:

RHBDD1

SOURCE GeneReport for Unigene cluster for RHBDD1 Gene:

Hs.471514

mRNA 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(4.5)
  • Eye(4.1)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with RHBDD1: view

Primer 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.

Orthologs for RHBDD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RHBDD1 33 34
  • 99.37 (n)
dog
(Canis familiaris)
Mammalia RHBDD1 33 34
  • 88.25 (n)
cow
(Bos Taurus)
Mammalia RHBDD1 33 34
  • 85.47 (n)
rat
(Rattus norvegicus)
Mammalia Rhbdd1 33
  • 81.38 (n)
mouse
(Mus musculus)
Mammalia Rhbdd1 33 16 34
  • 81.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RHBDD1 34
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RHBDD1 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves RHBDD1 33 34
  • 66.67 (n)
lizard
(Anolis carolinensis)
Reptilia RHBDD1 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rhbdd1 33
  • 62.8 (n)
Str.7235 33
zebrafish
(Danio rerio)
Actinopterygii rhbdd1 33 34
  • 59.98 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons RBL14 33
  • 51.02 (n)
rice
(Oryza sativa)
Liliopsida Os01g0283500 33
  • 46 (n)
Species where no ortholog for RHBDD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for RHBDD1 Gene

Pseudogenes.org Pseudogenes for RHBDD1 Gene

genes like me logo Genes that share paralogs with RHBDD1: view

No data available for Paralogs for RHBDD1 Gene

Variants for RHBDD1 Gene

Sequence variations from dbSNP and Humsavar for RHBDD1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000013044 -- 226,827,846(+) GCATA(C/G)CATGT intron-variant
rs1000018701 -- 226,946,291(+) TATGT(G/T)TAAGT intron-variant
rs1000026006 -- 226,955,746(+) TTTCT(C/T)TGTGC intron-variant
rs1000067030 -- 226,981,305(+) GCACA(G/T)GTATA intron-variant
rs1000075671 -- 226,905,057(+) GCTAT(A/G)TTCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RHBDD1 Gene

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

Variation tolerance for RHBDD1 Gene

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)

Relevant External Links for RHBDD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RHBDD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHBDD1 Gene

Disorders for RHBDD1 Gene

Relevant External Links for RHBDD1

Genetic Association Database (GAD)
RHBDD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RHBDD1

No disorders were found for RHBDD1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RHBDD1 Gene

Publications for RHBDD1 Gene

  1. Ubiquitin-dependent intramembrane rhomboid protease promotes ERAD of membrane proteins. (PMID: 22795130) Fleig L … Lemberg MK (Molecular cell 2012) 3 4 60
  2. 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 60
  3. 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 60
  4. Framingham Heart Study genome-wide association: results for pulmonary function measures. (PMID: 17903307) Wilk JB … O'Connor GT (BMC medical genetics 2007) 3 45 60
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 60

Products for RHBDD1 Gene

Sources for RHBDD1 Gene

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