RHBDL3 Gene(Protein Coding)

Rhomboid, Veinlet-Like 3 (Drosophila)

GCID:: GC17P032266

GIFtS:: 47

Genes Participants

Aliases for RHBDL3 Gene

Rhomboid, Veinlet-Like 3 (Drosophila) ² ³ ⁵
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

HGNC: 16502
Entrez Gene: 162494
Ensembl: ENSG00000141314
UniProtKB: P58872

Previous HGNC Symbols for RHBDL3 Gene

RHBDL4

Previous GeneCards Identifiers for RHBDL3 Gene

GC00U991136
GC17P027618
GC17P030593
GC17P026782

Export aliases for RHBDL3 gene to outside databases

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

RHBL3_HUMAN,P58872

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

Enhancers for RHBDL3 Gene

GeneHancer Identifier	Score	Enhancer Sources	TSS distance (kb)	Number of Genes Away	Size (kb)	Transcription Factor Binding Sites within enhancer	Other Gene Targets for Enhancer

Enhancers around RHBDL3 on UCSC Golden Path with GeneCards custom track

Promoters for RHBDL3 Gene

Ensembl Regulatory Elements (ENSRs)	TSS Distance (bp)	Size (bp)	Binding Sites for Transcription Factors within promoters

ENSRs around RHBDL3 on UCSC Golden Path with GeneCards custom track

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

See All at QIAGEN

Regulatory Element Products

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

Genes around RHBDL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:

17q11.2 by Ensembl
17q11.2 by Entrez Gene
17q11.2 by HGNC

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 — Genomic Neighborhood • Exon Structure • Gene 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:
P58872-1

P58872-2

P58872-3

neXtProt entry for RHBDL3 Gene

Proteomics data for RHBDL3 Gene at MOPED

Protein Expression for RHBDL3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for RHBDL3 Gene

P58872:

Post-translational modifications for RHBDL3 Gene

Modification sites at PhosphoSitePlus
- P58872
Modification sites at neXtProt
- NX_P58872

Other Protein References for RHBDL3 Gene

ENSEMBL proteins:

REFSEQ proteins:

NP_612201.1

Antibody Products

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Novus Biologicals Antibodies for RHBDL3

Search for Antibodies for RHBDL3 at Abcam

Browse Antibodies at Cloud-Clone Corp.

Search Invitrogen Antibodies for RHBDL3

Search antibodies-online for antibodies

Search GeneTex for Antibodies for RHBDL3

Santa Cruz Biotechnology (SCBT) Antibodies for RHBDL3
- Vrho (D-15)

Protein Products

Browse Purified and Recombinant Proteins at EMD Millipore

Browse R&D Systems for Human Recombinant Proteins

Browse Enzo Life Sciences for proteins

OriGene Purified Proteins for RHBDL3
- NM_138328
Search Origene for MassSpec and Protein Over-expression Lysates for RHBDL3
Origene Custom Protein Services for RHBDL3

GenScript Custom Purified and Recombinant Proteins Services for RHBDL3

Novus Biologicals proteins and lysates for RHBDL3

Browse ProSpec Recombinant Proteins

Browse Proteins at Cloud-Clone Corp.

Search eBioscience for RHBDL3 related proteins

Search GeneTex for Proteins for RHBDL3

Search for Proteins for RHBDL3 at Abcam

Assay Products

Browse Kits and Assays available from EMD Millipore

Browse R&D Systems for biochemical assays

GenScript Custom Assay Services for RHBDL3

Browse Enzo Life Sciences for kits & assays

Browse Assay Kits at Cloud-Clone Corp.

Search eBioscience for RHBDL3 related elisas

Search antibodies-online for kits

Search for Assays for RHBDL3 at Abcam

Domains & Families for RHBDL3 Gene

Gene Families for RHBDL3 Gene

HGNC:

Protein Domains for RHBDL3 Gene

InterPro:

Blocks:

Rhomboid-like protein

ProtoNet:

P58872

Suggested Antigen Peptide Sequences for RHBDL3 Gene

GenScript: Design optimal peptide antigens:

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.

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.

RHBL3_HUMAN,P58872

UniProtKB/Swiss-Prot Function:

May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors.

RHBL3_HUMAN,P58872

Enzyme Numbers (IUBMB) for RHBDL3 Gene

EC 3.4.21.105 ⁶³ ⁴

Phenotypes for RHBDL3 Gene

MGI mutant phenotypes for RHBDL3:

inferred from 1 alleles

GenomeRNAi human phenotypes for RHBDL3:

Animal Models for RHBDL3 Gene

MGI Knock Outs for RHBDL3:

Rhbdl3 ^{tm1b(EUCOMM)Wtsi}

Animal Model Products

Taconic Biosciences Mouse Models for RHBDL3
- Rhbdl3

ViGene Biosciences lentiviral particle packaged cDNA for RHBDL3 gene
- LH887596
ViGene Biosciences ready-to-package AAV shRNAs for RHBDL3 gene
- SH887596
Search ViGene Biosciences for RHBDL3

CRISPR Products

OriGene CRISPR knockouts for RHBDL3
- KN217290
- KN314756

Santa Cruz Biotechnology (SCBT) CRISPR for RHBDL3

GenScript: Design CRISPR guide RNA sequences for RHBDL3

miRNA for RHBDL3 Gene

miRTarBase miRNAs that target RHBDL3

miRNA Products

Search ViGene Biosciences for RHBDL3

Inhibitory RNA Products

Origene siRNA, shRNA, mouse_rna, rat_shrna, and RNAi products in human, mouse, rat for RHBDL3
Browse OriGene Inhibitory RNA Products For RHBDL3

ViGene Biosciences ready-to-package AAV shRNAs for RHBDL3 gene
- SH887596

Search Santa Cruz Biotechnology (SCBT) for RHBDL3 siRNA/shRNA

No data available for Gene Ontology (GO) - Molecular Function , 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.

P58872-RHBL3_HUMAN

Subcellular locations from

COMPARTMENTS

Jensen Localization Image for RHBDL3 Gene

Compartment	Confidence
mitochondrion	3
plasma membrane	3
nucleus	1
peroxisome	1

No data available for Gene Ontology (GO) - Cellular Components for RHBDL3 Gene

Pathways & Interactions for RHBDL3 Gene

SuperPathways for RHBDL3 Gene

More details on SuperPathways for RHBDL3

No Data Available

Interacting Proteins for RHBDL3 Gene

http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000269051%0d%0a9606.ENSP00000216115%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000307235%0d%0a9606.ENSP00000351777%0d%0a9606.ENSP00000304447%0d%0a — STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins: ENSP00000269051 P58872-RHBL3_HUMAN for RHBDL3 Gene via STRING I2D

Symbol	External ID(s)	Details
BMP4	ENSP00000245451 ²⁰ P12644 ²¹	STRING: ENSP00000245451 I2D: score=1
CHRD	ENSP00000204604 ²⁰ Q9H2X0 ²¹	STRING: ENSP00000204604 I2D: score=1
ETV6	ENSP00000379658 ²⁰ P41212 ²¹	STRING: ENSP00000379658 I2D: score=1
HRAS	ENSP00000309845 ²⁰ P01112 ²¹	STRING: ENSP00000309845 I2D: score=1
NOTCH2	ENSP00000256646 ²⁰ Q04721 ²¹	STRING: ENSP00000256646 I2D: score=1

Gene Ontology (GO) - Biological Process for RHBDL3 Gene

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016485	protein processing	IBA	--

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

Drugs & Compounds for RHBDL3 Gene

No Compound Related Data Available

Drug Products

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RHBDL3

Browse compounds at ApexBio

Transcripts for RHBDL3 Gene

mRNA/cDNA for RHBDL3 Gene

(11) REFSEQ mRNAs :

(10) Additional mRNA sequences :

(46) Selected AceView cDNA sequences:

(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RHBDL3 Gene

Rhomboid, veinlet-like 3 (Drosophila):

Hs.655027

Representative Sequences:

NM_138328

CRISPR Products

OriGene CRISPR knockouts for RHBDL3
- KN217290
- KN314756

Santa Cruz Biotechnology (SCBT) CRISPR for RHBDL3

GenScript: Design CRISPR guide RNA sequences for RHBDL3

miRNA Products

Search ViGene Biosciences for RHBDL3

Inhibitory RNA Products

Origene siRNA, shRNA, mouse_rna, rat_shrna, and RNAi products in human, mouse, rat for RHBDL3
Browse OriGene Inhibitory RNA Products For RHBDL3

ViGene Biosciences ready-to-package AAV shRNAs for RHBDL3 gene
- SH887596

Search Santa Cruz Biotechnology (SCBT) for RHBDL3 siRNA/shRNA

Clone Products

OriGene clones in human for RHBDL3
OriGene ORF clones in human,mouse,rat for RHBDL3
Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling

GenScript: Next-day shipping cDNA clones in your preferred vector

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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat

Search Addgene for plasmids for RHBDL3

Flow Cytometry Products

eBioscience FlowRNA Probe Sets

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 by BioGPS for RHBDL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Neural Tube (Nervous System)
- Roof Plate Cells Mesencephalic Roof Plate
- Diencephalon
- Mesencephalic Roof Plate
Inner Cell Mass (Early Embryonic Tissues)
- Induced pluripotent stem cell line 1
Neural Ectoderm (Nervous System)
- Neural ectoderm cells(Fasano CA et. al. 2010)
Eye (Sensory Organs)

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for RHBDL3 Gene

Integrated proteomics: cell line protein expression from ProteomicsDB, MOPED and MaxQB for RHBDL3 Gene

SOURCE GeneReport for Unigene cluster for RHBDL3 Gene Hs.655027

Protein tissue co-expression partners for RHBDL3 Gene

- Elite partner

Primer Products

OriGene qPCR primer pairs for RHBDL3
- HP216905

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)		535623 XM_002695658.2 XP_002695704.2
cow (Bos Taurus)	Mammalia	RHBDL3 ³⁶	94 (a)	OneToOne	19:18160728-18192076
dog (Canis familiaris)	Mammalia	RHBDL3 ³⁵	90.49 (n) 97.51 (a)		491155 XM_005624825.1 XP_005624882.1
dog (Canis familiaris)	Mammalia	RHBDL3 ³⁶	67 (a)	OneToOne	9:40633318-40675234
mouse (Mus musculus)	Mammalia	Rhbdl3 ³⁵	90.69 (n) 95.69 (a)		246104 NM_139228.3 NP_631974.1
		Rhbdl3 ¹⁶			80300912
		Rhbdl3 ³⁶	96 (a)	OneToOne	11:80300912-80355955
chimpanzee (Pan troglodytes)	Mammalia	RHBDL3 ³⁵	99.02 (n) 99.12 (a)		747914 XM_001158831.2 XP_001158831.2
chimpanzee (Pan troglodytes)	Mammalia	RHBDL3 ³⁶	100 (a)	OneToOne	17:24670993-24726518
rat (Rattus norvegicus)	Mammalia	Rhbdl3 ³⁵	90.27 (n) 95.69 (a)		287556 NM_001105819.1 NP_001099289.1
oppossum (Monodelphis domestica)	Mammalia	RHBDL3 ³⁶	88 (a)	OneToOne	2:503455464-503525520
platypus (Ornithorhynchus anatinus)	Mammalia	RHBDL3 ³⁶	85 (a)	OneToOne	Contig4580:3591-20659
chicken (Gallus gallus)	Aves	RHBDL3 ³⁵	77.52 (n) 85.83 (a)		417411 XM_004946181.1 XP_004946238.1
chicken (Gallus gallus)	Aves	RHBDL3 ³⁶	86 (a)	OneToOne	18:6678617-6695673
lizard (Anolis carolinensis)	Reptilia	RHBDL3 ³⁶	86 (a)	OneToOne	GL343198.1:1716909-1796159
tropical clawed frog (Silurana tropicalis)	Amphibia	LOC101732375 ³⁵	73.87 (n) 76 (a)		101732375 XM_004920714.1 XP_004920771.1
zebrafish (Danio rerio)	Actinopterygii	rhbdl3 ³⁵	70.83 (n) 76.69 (a)		550128 NM_001017556.2 NP_001017556.1
		wufb98c11 ³⁵			AL726021.1
		rhbdl3 ³⁶	71 (a)	OneToOne	6:19211952-19285746
African malaria mosquito (Anopheles gambiae)	Insecta	AgaP_AGAP005058 ³⁵	50.62 (n) 43.84 (a)		1274741 XM_313932.4 XP_313932.4
fruit fly (Drosophila melanogaster)	Insecta	stet ³⁵	52.87 (n) 44.25 (a)		38169 NM_176272.2 NP_788450.1
		rho ³⁶	31 (a)	ManyToMany	3L:1463811-1468944
		rho-4 ³⁶	24 (a)	ManyToMany	X:11493874-11500034
		ru ³⁶	30 (a)	ManyToMany	3L:1370628-1387437
		stet ³⁶	25 (a)	ManyToMany	3L:1475438-1489547
sea squirt (Ciona savignyi)	Ascidiacea	-- ³⁶	29 (a)	ManyToMany	reftig_30:3141181-3144173

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

RHBDL1 ⁵
RHBDL2 ⁵

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

Variants for RHBDL3 Gene

Sequence variations from dbSNP and Humsavar for RHBDL3 Gene

SNP ID	Clin	Chr 17 pos	Sequence Context	Type
rs4795690	-	32,298,186(+)	TCTAC(A/G)TGGCC	reference, missense
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

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% 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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for RHBDL3 Gene

Disorders for RHBDL3 Gene

Relevant External Links for RHBDL3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:: 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

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 ³ ⁴ ⁶⁷
Ubiquitin-dependent intramembrane rhomboid protease promotes ERAD of membrane proteins. (PMID: 22795130) Fleig L. … Lemberg M.K. (Mol. Cell 2012) ³
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
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) ³