Aliases for RHBDD1 Gene

Aliases for RHBDD1 Gene

  • Rhomboid Domain Containing 1 2 3 5
  • Rhomboid Domain-Containing Protein 1 3 4
  • Rhomboid-Related Protein 4 3 4
  • Rhomboid-Like Protein 4 3 4
  • RHBDL4 3 4
  • RRP4 3 4
  • EC 3.4.21.105 4
  • DKFZp547E052 2
  • RHBDD1 5

External Ids for RHBDD1 Gene

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

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
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J226788 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 621.9 -4.7 -4653 13.8 SP1 HNRNPL CREB1 GATAD2A CTCF TEAD4 PRDM10 REST TFE3 SOX13 RHBDD1 IRS1 ENSG00000261379 5MWI_A-095 ENSG00000272622 HSALNG0022707
GH02J226834 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 613.5 +37.2 37211 6.7 CREB1 GATAD2A HNRNPL PRDM10 ZNF629 TFE3 LEF1 IKZF1 NFKBIZ KDM1A RHBDD1 lnc-COL4A3-4 lnc-IRS1-6 IRS1 piR-30521 COL4A4
GH02J226902 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 607.1 +106.9 106942 10.6 SP1 IKZF2 YY1 PKNOX1 RELA EED CEBPB JUND RUNX3 BCLAF1 RHBDD1 ENSG00000212391 piR-30048-019 lnc-COL4A3-2 COL4A4
GH02J227324 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.8 +525.7 525684 3.3 SP1 HNRNPL CREB1 GATAD2A PRDM10 REST ZNF629 TFE3 SIX5 IKZF1 MFF MFF-DT IRS1 RHBDD1 STIP1P2 TM4SF20
GH02J227471 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.8 +673.5 673456 4.3 SP1 GATAD2A CTCF TFE3 SOX13 IKZF1 BACH1 JUND LARP7 PRDM1 AGFG1 MIR5703 RHBDD1 TM4SF20 HSALNG0022746 piR-47851-003 SCYGR2
- 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:
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.

    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

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

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 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

Gene Ontology (GO) - Molecular Function 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 --
genes like me logo Genes that share ontologies with RHBDD1: view
genes like me logo Genes that share phenotypes with RHBDD1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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.

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
cytoskeleton 1
nucleus 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0
cytosol 0

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 IBA,IDA 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

PathCards logo

SuperPathways for RHBDD1 Gene

No Data Available

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 IEA,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

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 :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RHBDD1

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

Expression for RHBDD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for RHBDD1 Gene



Protein tissue co-expression partners 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.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(4.6)
  • Pancreas(4.1)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with RHBDD1: view

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 30 31
  • 99.37 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RHBDD1 30 31
  • 88.25 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RHBDD1 30 31
  • 85.47 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rhbdd1 30
  • 81.38 (n)
Mouse
(Mus musculus)
Mammalia Rhbdd1 30 17 31
  • 81.06 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RHBDD1 31
  • 66 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RHBDD1 31
  • 61 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RHBDD1 30 31
  • 66.67 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RHBDD1 31
  • 58 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rhbdd1 30
  • 62.8 (n)
Str.7235 30
Zebrafish
(Danio rerio)
Actinopterygii rhbdd1 30 31
  • 59.98 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons RBL14 30
  • 51.02 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0283500 30
  • 46 (n)
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

Paralogs for RHBDD1 Gene

Pseudogenes.org Pseudogenes for RHBDD1 Gene

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

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

Additional dbSNP identifiers (rs#s) for RHBDD1 Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(2) MalaCards diseases for RHBDD1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
benign mammary dysplasia
brain glioblastoma multiforme
  • brain glioblastoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RHBDD1

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

No data available for 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
  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
  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
  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
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4

Products for RHBDD1 Gene

Sources for RHBDD1 Gene