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Aliases for RHBDL3 Gene

Aliases for RHBDL3 Gene

  • Rhomboid Like 3 2 3 5
  • Ventrhoid Transmembrane Protein 3 4
  • EC 3.4.21.105 4 56
  • RHBDL4 3 4
  • VRHO 3 4
  • Rhomboid, Veinlet-Like 4 (Drosophila) 2
  • Rhomboid, Veinlet-Like 3 (Drosophila) 2
  • Rhomboid-Related Protein 3 3
  • Rhomboid, Veinlet-Like 3 3
  • 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 Like 3) is a Protein Coding gene. Gene Ontology (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.

Additional gene information for RHBDL3 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 RHBDL3 Gene

Genomics for RHBDL3 Gene

GeneHancer (GH) Regulatory Elements for RHBDL3 Gene

Promoters and enhancers for RHBDL3 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
GH17I032264 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 565.7 -0.5 -469 1.5 ZNF449 KLF17 SIN3A ZIC2 ZNF335 ZFHX2 POLR2A VEZF1 EZH2 ZBTB20 RHBDL3 LOC105371731 GC17M032239
GH17I032266 Enhancer 0.7 ENCODE 550.8 +0.8 826 0.2 RING1 ZNF777 KLF17 IRF4 ZNF335 GLIS2 ZBTB48 KLF8 IKZF2 EZH2 LOC105371731 RHBDL3 UTP6 SUZ12 C17orf75 GC17M032239
GH17I032265 Enhancer 0.6 ENCODE dbSUPER 557.7 -1.6 -1564 0.1 CTCF REST RHBDL3 LOC105371731 GC17M032239 UBL5P2
GH17I032348 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.1 +84.5 84499 4.1 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 NFYC MEF2D ZNF207 C17orf75 GC17M032350 GC17P032358 PIR54391 MIR632 SUZ12 UTP6 PSMD11 LRRC37B
GH17I032340 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.1 +75.9 75939 2.2 ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC C17orf75 ZNF207 UTP6 SUZ12 RHBDL3 TMEM98 SH3GL1P1 PSMD11 MYO1D OOSP1P2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RHBDL3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RHBDL3 gene promoter:

Genomic Locations for RHBDL3 Gene

Genomic Locations for RHBDL3 Gene
chr17:32,266,131-32,324,661
(GRCh38/hg38)
Size:
58,531 bases
Orientation:
Plus strand
chr17:30,593,195-30,651,680
(GRCh37/hg19)

Genomic View for RHBDL3 Gene

Genes around RHBDL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RHBDL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for RHBDL3 Gene

P58872:
  • GVPLEMVHG
  • GRAVWLRF

Post-translational modifications for RHBDL3 Gene

No Post-translational modifications

Domains & Families for RHBDL3 Gene

Gene Families for RHBDL3 Gene

Graphical View of Domain Structure for InterPro Entry

P58872

UniProtKB/Swiss-Prot:

RHBL3_HUMAN :
  • Belongs to the peptidase S54 family.
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

Phenotypes From GWAS Catalog 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 --
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 RHBDL3: view

Phenotypes for RHBDL3 Gene

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

Animal Models for RHBDL3 Gene

MGI Knock Outs for RHBDL3:

Animal Model Products

CRISPR Products

miRNA for RHBDL3 Gene

Inhibitory RNA Products

No data available for Human Phenotype Ontology , 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.

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 RHBDL3 gene
Compartment Confidence
plasma membrane 3
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for RHBDL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
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 the Human Protein Atlas (HPA) 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:0006508 proteolysis IEA --
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

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for RHBDL3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RHBDL3 Gene:

RHBDL3

SOURCE GeneReport for Unigene cluster for RHBDL3 Gene:

Hs.655027

Evidence on tissue expression from TISSUES for RHBDL3 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with RHBDL3: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia RHBDL3 33 34
  • 99.02 (n)
cow
(Bos Taurus)
Mammalia RHBDL3 33 34
  • 91.34 (n)
mouse
(Mus musculus)
Mammalia Rhbdl3 33 16 34
  • 90.69 (n)
dog
(Canis familiaris)
Mammalia RHBDL3 33 34
  • 90.49 (n)
rat
(Rattus norvegicus)
Mammalia Rhbdl3 33
  • 90.27 (n)
oppossum
(Monodelphis domestica)
Mammalia RHBDL3 34
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RHBDL3 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves RHBDL3 33 34
  • 77.52 (n)
lizard
(Anolis carolinensis)
Reptilia RHBDL3 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101732375 33
  • 73.87 (n)
zebrafish
(Danio rerio)
Actinopterygii rhbdl3 33 34
  • 70.83 (n)
wufb98c11 33
fruit fly
(Drosophila melanogaster)
Insecta stet 33 34
  • 52.87 (n)
rho 34
  • 31 (a)
ManyToMany
ru 34
  • 30 (a)
ManyToMany
rho-4 34
  • 24 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005058 33
  • 50.62 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 29 (a)
ManyToMany
Species where no ortholog for RHBDL3 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000029421 -- 32,315,970(+) C/T intron_variant
rs1000101283 -- 32,316,807(+) C/T intron_variant
rs1000147363 -- 32,320,096(+) C/A/T intron_variant
rs1000158746 -- 32,319,739(+) C/T intron_variant
rs1000223452 -- 32,279,682(+) C/T genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv1456n106 CNV deletion 24896259
esv1001216 CNV deletion 20482838
esv2238058 CNV deletion 18987734
esv2621296 CNV insertion 19546169
esv2672269 CNV deletion 23128226
esv2715834 CNV deletion 23290073
esv2715835 CNV deletion 23290073
esv29073 CNV gain 19812545
esv3554320 CNV deletion 23714750
nsv1115519 CNV duplication 24896259
nsv1120336 CNV tandem duplication 24896259
nsv1134639 CNV deletion 24896259
nsv1140158 CNV deletion 24896259
nsv1142215 CNV tandem duplication 24896259
nsv1148266 CNV deletion 26484159
nsv574692 CNV gain 21841781
nsv574693 CNV gain 21841781
nsv827949 CNV gain 20364138

Variation tolerance for RHBDL3 Gene

Residual Variation Intolerance Score: 14% 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)

Additional Variant Information for RHBDL3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RHBDL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHBDL3 Gene

Disorders for RHBDL3 Gene

Additional Disease Information for RHBDL3

No disorders were found for RHBDL3 Gene.

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) Jászai J … Brand M (Mechanisms of development 2002) 2 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. The rhomboid-like superfamily: molecular mechanisms and biological roles. (PMID: 25062361) Freeman M (Annual review of cell and developmental biology 2014) 3 58
  4. Emerging role of rhomboid family proteins in mammalian biology and disease. (PMID: 23562403) Bergbold N … Lemberg MK (Biochimica et biophysica acta 2013) 3 58
  5. Sampling the membrane: function of rhomboid-family proteins. (PMID: 23369641) Lemberg MK (Trends in cell biology 2013) 3 58

Products for RHBDL3 Gene

Sources for RHBDL3 Gene

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