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Aliases for RHBDL3 Gene

Aliases for RHBDL3 Gene

  • Rhomboid, Veinlet-Like 3 (Drosophila) 2 3
  • Ventrhoid Transmembrane Protein 3 4
  • EC 3.4.21.105 4 63
  • RHBDL4 3 4
  • VRHO 3 4
  • Rhomboid, Veinlet-Like 4 (Drosophila) 2
  • Rhomboid, Veinlet-Like 4 3

External Ids for RHBDL3 Gene

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, Veinlet-Like 3 (Drosophila)) 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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RHBDL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • A6NMH1
    • Q495Y4
    • Q495Y5
    • Q495Y6

    Protein attributes for RHBDL3 Gene

    Size:
    404 amino acids
    Molecular mass:
    45245 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RHBDL3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RHBDL3 Gene

Proteomics data for RHBDL3 Gene at MOPED

Selected DME Specific Peptides for RHBDL3 Gene

Post-translational modifications for RHBDL3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RHBDL3 Gene

Domains & Families for RHBDL3 Gene

Gene Families for RHBDL3 Gene

Graphical View of Domain Structure for InterPro Entry

P58872

UniProtKB/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.
genes like me logo Genes that share domains with RHBDL3: view

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

Gene Ontology (GO) - Molecular Function for RHBDL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity IBA --
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with RHBDL3: view

Phenotypes for RHBDL3 Gene

GenomeRNAi human phenotypes for RHBDL3:
genes like me logo Genes that share phenotypes with RHBDL3: view

Animal Model Products

CRISPR Products

miRNA for RHBDL3 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RHBDL3

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , 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.

Gene Ontology (GO) - Cellular Components for RHBDL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IBA --
genes like me logo Genes that share ontologies with RHBDL3: view

No data available for Subcellular locations from COMPARTMENTS for RHBDL3 Gene

Pathways & Interactions for RHBDL3 Gene

SuperPathways for RHBDL3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RHBDL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016485 protein processing IBA --
genes like me logo Genes that share ontologies with RHBDL3: view

No data available for Pathways by source and SIGNOR curated interactions for RHBDL3 Gene

Drugs & Compounds for RHBDL3 Gene

No Compound Related Data Available

Transcripts for RHBDL3 Gene

Unigene Clusters for RHBDL3 Gene

Rhomboid, veinlet-like 3 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RHBDL3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RHBDL3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b
SP1: - - -
SP2:
SP3: - - -
SP4: - -

Relevant External Links for RHBDL3 Gene

GeneLoc Exon Structure for
RHBDL3
ECgene alternative splicing isoforms for
RHBDL3

Expression for RHBDL3 Gene

mRNA expression in normal human tissues for RHBDL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

Protein differential expression in normal tissues from HIPED for RHBDL3 Gene

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



SOURCE GeneReport for Unigene cluster for RHBDL3 Gene Hs.655027

genes like me logo Genes that share expression patterns with RHBDL3: view

Protein tissue co-expression partners for RHBDL3 Gene

- Elite partner

Primer Products

In Situ Assay Products

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.

Orthologs for RHBDL3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RHBDL3 35
  • 91.34 (n)
  • 97.21 (a)
RHBDL3 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RHBDL3 35
  • 90.49 (n)
  • 97.51 (a)
RHBDL3 36
  • 67 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rhbdl3 35
  • 90.69 (n)
  • 95.69 (a)
Rhbdl3 16
Rhbdl3 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RHBDL3 35
  • 99.02 (n)
  • 99.12 (a)
RHBDL3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rhbdl3 35
  • 90.27 (n)
  • 95.69 (a)
oppossum
(Monodelphis domestica)
Mammalia RHBDL3 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RHBDL3 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves RHBDL3 35
  • 77.52 (n)
  • 85.83 (a)
RHBDL3 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RHBDL3 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101732375 35
  • 73.87 (n)
  • 76 (a)
zebrafish
(Danio rerio)
Actinopterygii rhbdl3 35
  • 70.83 (n)
  • 76.69 (a)
wufb98c11 35
rhbdl3 36
  • 71 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005058 35
  • 50.62 (n)
  • 43.84 (a)
fruit fly
(Drosophila melanogaster)
Insecta stet 35
  • 52.87 (n)
  • 44.25 (a)
rho 36
  • 31 (a)
ManyToMany
rho-4 36
  • 24 (a)
ManyToMany
ru 36
  • 30 (a)
ManyToMany
stet 36
  • 25 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
ManyToMany
Species with no ortholog for RHBDL3:
  • 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)

Evolution for RHBDL3 Gene

ENSEMBL:
Gene Tree for RHBDL3 (if available)
TreeFam:
Gene Tree for RHBDL3 (if available)

Paralogs for RHBDL3 Gene

Paralogs for RHBDL3 Gene

(2) SIMAP similar genes for RHBDL3 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with RHBDL3: view

Variants for RHBDL3 Gene

Sequence variations from dbSNP and Humsavar for RHBDL3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs167298 -- 32,291,497(+) gcaac(A/G)tggta intron-variant
rs172522 -- 32,297,820(+) GACTG(G/T)GGTTA intron-variant
rs172524 -- 32,270,216(+) TCTCA(A/G)AGTCC intron-variant
rs186191 -- 32,297,792(+) actgc(C/G)cccag intron-variant
rs301341 -- 32,292,738(+) tagag(G/T)ttgca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RHBDL3 Gene

Variant ID Type Subtype PubMed ID
nsv908068 CNV Gain 21882294
nsv908069 CNV Gain 21882294
esv29073 CNV Gain 19812545
nsv827949 CNV Gain 20364138
esv2715834 CNV Deletion 23290073
esv2238058 CNV Deletion 18987734
esv2715835 CNV Deletion 23290073
esv2672269 CNV Deletion 23128226
esv1001216 CNV Deletion 20482838
esv2621296 CNV Insertion 19546169

Variation tolerance for RHBDL3 Gene

Residual Variation Intolerance Score: 14.04% 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

HapMap Linkage Disequilibrium report
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
genes like me logo Genes that share disorders with RHBDL3: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RHBDL3 Gene

Publications for RHBDL3 Gene

  1. 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 67
  2. Ubiquitin-dependent intramembrane rhomboid protease promotes ERAD of membrane proteins. (PMID: 22795130) Fleig L. … Lemberg M.K. (Mol. Cell 2012) 67
  3. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody M.C. … Nusbaum C. (Nature 2006) 67
  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) 67
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 67

Products for RHBDL3 Gene

Sources for RHBDL3 Gene

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