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Aliases for RHBDD1 Gene

Aliases for RHBDD1 Gene

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

External Ids for RHBDD1 Gene

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.

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

Genomics for RHBDD1 Gene

Genomic Location for RHBDD1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RHBDD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHBDD1 Gene

Regulatory Elements 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

    Alternative splice isoforms for RHBDD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RHBDD1 Gene

Proteomics data for RHBDD1 Gene at MOPED

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 for RHBDD1 Gene

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
Family:
  • Belongs to the peptidase S54 family.:
    • Q8TEB9
genes like me logo Genes that share domains with RHBDD1: view

No data available for Gene Families for RHBDD1 Gene

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

Gene Ontology (GO) - Molecular Function for RHBDD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity IDA 22624035
GO:0004252 serine-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 18953687
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

miRNA for RHBDD1 Gene

miRTarBase miRNAs that target RHBDD1

No data available for Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for RHBDD1 Gene COMPARTMENTS Subcellular localization image for RHBDD1 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 3
cytosol 1
extracellular 1
golgi apparatus 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for RHBDD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005789 endoplasmic reticulum membrane ISS --
GO:0016021 integral component of membrane --
GO:0030176 integral component of endoplasmic reticulum membrane ISS --
GO:0044322 endoplasmic reticulum quality control compartment ISS --
genes like me logo Genes that share ontologies with RHBDD1: view

Pathways for RHBDD1 Gene

SuperPathways for RHBDD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RHBDD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0010954 positive regulation of protein processing ISS --
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process ISS --
GO:0031293 membrane protein intracellular domain proteolysis ISS --
GO:0033619 membrane protein proteolysis IDA 18953687
genes like me logo Genes that share ontologies with RHBDD1: view

No data available for Pathways by source for RHBDD1 Gene

Transcripts for RHBDD1 Gene

Unigene Clusters for RHBDD1 Gene

Rhomboid domain containing 1:
Representative Sequences:

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 for RHBDD1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RHBDD1 Gene

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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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 35
  • 99.37 (n)
  • 99.05 (a)
RHBDD1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RHBDD1 35
  • 85.47 (n)
  • 84.62 (a)
RHBDD1 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RHBDD1 35
  • 88.25 (n)
  • 87.3 (a)
RHBDD1 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rhbdd1 35
  • 81.06 (n)
  • 80.95 (a)
Rhbdd1 16
Rhbdd1 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RHBDD1 36
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RHBDD1 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rhbdd1 35
  • 81.38 (n)
  • 80.63 (a)
chicken
(Gallus gallus)
Aves RHBDD1 35
  • 66.67 (n)
  • 62.66 (a)
RHBDD1 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RHBDD1 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rhbdd1 35
  • 62.8 (n)
  • 61.26 (a)
Str.7235 35
zebrafish
(Danio rerio)
Actinopterygii rhbdd1 35
  • 59.98 (n)
  • 60.19 (a)
rhbdd1 36
  • 54 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons RBL14 35
  • 51.02 (n)
  • 40.78 (a)
rice
(Oryza sativa)
Liliopsida Os01g0283500 35
  • 46 (n)
  • 37.64 (a)
Species with no ortholog for RHBDD1:
  • 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 MAF
rs720501 -- 226,913,729(-) ATTAA(A/G)ATGCA intron-variant
rs957630 -- 226,839,430(-) CAGGT(A/T)AGATT utr-variant-5-prime, intron-variant
rs978909 -- 226,906,673(+) AAGAC(G/T)TGATG intron-variant
rs1019817 -- 226,841,066(-) GAGGG(C/T)GACTA intron-variant
rs1078682 -- 226,868,556(-) ACCCT(C/T)TGCCA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2667541 CNV Deletion 23128226
nsv3191 CNV Insertion 18451855

Relevant External Links for RHBDD1 Gene

HapMap Linkage Disequilibrium report
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
genes like me logo Genes that share disorders with RHBDD1: view

No data available for UniProtKB/Swiss-Prot for RHBDD1 Gene

Publications for RHBDD1 Gene

  1. 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
  2. Human and mouse proteases: a comparative genomic approach. (PMID: 12838346) Puente X.S. … Lopez-Otin C. (Nat. Rev. Genet. 2003) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. 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
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4

Products for RHBDD1 Gene

Sources for RHBDD1 Gene

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