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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RHBDL3 Gene

protein-coding   GIFtS: 46
GCID: GC17P030593

rhomboid, veinlet-like 3 (Drosophila)

(Previous names: rhomboid, veinlet-like 4 (Drosophila) )
(Previous symbol: RHBDL4)
  Search for RHBDL3
in
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Biological research products
for RHBDL3    

Aliases
for RHBDL3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Rhomboid, Veinlet-Like 3 (Drosophila)1 2     EC 3.4.21.1053 8
RHBDL41 2 3     Rhomboid, Veinlet-Like 4 (Drosophila)1
VRHO1 2 3     Rhomboid, Veinlet-Like 42
Ventrhoid Transmembrane Protein2 3     Rhomboid-Related Protein 32

External Ids:    HGNC: 165021   Entrez Gene: 1624942   Ensembl: ENSG000001413147   UniProtKB: P588723   

Export aliases for RHBDL3 gene to outside databases

Previous GC identifers: GC00U991136 GC17P027618 GC17P026782


Summaries
for RHBDL3 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: RHBL3_HUMAN, P58872
Function: May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides
from their membrane anchors (By similarity)




Genomic Views
for RHBDL3 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010799.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RHBDL3 gene promoter:
         STAT1   NF-1   p53   NRSF form 1   STAT1beta   STAT5A   NRSF form 2   STAT1alpha   POU2F1   HOXA5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RHBDL3 promoter sequence
   Search SABiosciences Chromatin IP Primers for RHBDL3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RHBDL3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q11.2   Ensembl cytogenetic band:  17q11.2   HGNC cytogenetic band: 17q11.2

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P030593:  view genomic region     (about GC identifiers)

Start:
 30,593,195 bp from pter      End:
 30,651,680 bp from pter
Size:
 58,486 bases      Orientation:
 plus strand

Proteins
for RHBDL3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: RHBL3_HUMAN, P58872 (See protein sequence)
Recommended Name: Rhomboid-related protein 3  
Size: 404 amino acids; 45245 Da
Subcellular location: Membrane; Multi-pass membrane protein (Probable)
Secondary accessions: A6NMH1 Q495Y6

Explore the universe of human proteins at neXtProt for RHBDL3: NX_P58872

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P58872

    • 2 DME Specific Peptides for RHBDL3 (P58872)
     GRAVWLRF  GVPLEMVHG 

    RHBDL3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_612201.1  
    ENSEMBL proteins: 
     ENSP00000463941   ENSP00000394849   ENSP00000269051   ENSP00000442092   ENSP00000466508  

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    Novus Biologicals RHBDL3 Protein
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    Uscn Proteins for RHBDL3

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--


    RHBDL3 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for RHBDL3

    Protein Domains /
    Families
    for RHBDL3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    RHBDL3 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_Ca-bd
     IPR022764 Peptidase_S54_rhomboid_dom
     IPR002610 Peptidase_S54_rhomboid
     IPR017213 Peptidase_S54_rhomboid_met

    Graphical View of Domain Structure for InterPro Entry P58872

    ProtoNet protein and cluster: P58872

    1 Blocks protein family: IPB002610 Rhomboid-like protein

    UniProtKB/Swiss-Prot: RHBL3_HUMAN, P58872
    Similarity: Belongs to the peptidase S54 family
    Similarity: Contains 2 EF-hand domains


    Function
    for RHBDL3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: RHBL3_HUMAN, P58872
    Function: May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides
    from their membrane anchors (By similarity)
    Catalytic activity: Cleaves type-1 transmembrane domains using a catalytic dyad composed of serine and histidine that
    are contributed by different transmembrane domains

    Enzyme Number (IUBMB): EC 3.4.21.1051 2

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RHBDL3
    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate RHBDL3 (see all 34):
    hsa-miR-3685 hsa-miR-1321 hsa-miR-330-5p hsa-miR-3162-5p hsa-miR-3667-5p hsa-miR-124 hsa-miR-629* hsa-miR-326
    SwitchGear 3'UTR luciferase reporter plasmid: RHBDL3 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity IEA--
    GO:0005509calcium ion binding IEA--


    RHBDL3 for ontologies           About GeneDecksing



    Pathways & Interactions
    for RHBDL3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RHBDL3

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5/12 Interacting proteins for RHBDL3 (P588723 ENSP000002690514) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BMP4P126443I2D: score=1 
    CHRDQ9H2X03I2D: score=1 
    CTNNB1P352223I2D: score=1 
    ETV6P412123I2D: score=1 
    FRKP426853I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--


    RHBDL3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for RHBDL3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RHBDL3
    Search CenterWatch for drugs/clinical trials and news about RHBDL3 / RHBL3 

    Transcripts
    for RHBDL3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for RHBDL3 gene: 
    NM_138328.2  

    Unigene Cluster for RHBDL3:

    Rhomboid, veinlet-like 3 (Drosophila)
    Hs.655027  [show with all ESTs]
    Unigene Representative Sequence: NM_138328
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000578006 ENST00000431505 ENST00000269051(uc002hhe.1 uc010csw.1 uc010csx.1 uc010csy.1)
    ENST00000538145 ENST00000536287(uc002hhf.1) ENST00000582967

    miRNA
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    8/34 QIAGEN miScript miRNA Assays for microRNAs that regulate RHBDL3 (see all 34):
    hsa-miR-3685 hsa-miR-1321 hsa-miR-330-5p hsa-miR-3162-5p hsa-miR-3667-5p hsa-miR-124 hsa-miR-629* hsa-miR-326
    SwitchGear 3'UTR luciferase reporter plasmid: RHBDL3 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AJ313480.1 AK124570.1 AK127490.1 AL133573.1 BC016953.1 BC100975.1 BC100976.1 BC100977.1 
    BC100978.1 BX647302.1 

    6 DOTS entries:

    DT.40115544  DT.112050  DT.92031890  DT.120900932  DT.75115271  DT.95079942 

    24/46 AceView cDNA sequences (see all 46):

    AI369789 AK124570 AJ313480 BM717083 BX647302 AK127490 T16542 BM674460 
    BE047684 AA235710 BM988137 AI197876 BE904095 BM695873 AI859187 BC016953 
    BE220111 NM_138328 BM011465 AA351949 BG911192 BM666952 BE252504 AI863395 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for RHBDL3    About this scheme

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


    ECgene alternative splicing isoforms for RHBDL3

    Expression
    for RHBDL3 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RHBDL3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGCTCCCCG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    RHBDL3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeVisceral White AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See RHBDL3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RHBDL3

    SOURCE GeneReport for Unigene cluster: Hs.655027
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    In Situ
    Assay Products:     
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    Orthologs
    for RHBDL3 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for RHBDL3 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves RHBDL31 rhomboid, veinlet-like 3 (Drosophila) 78.14(n)
    87.7(a)    		   417411  XM_415663.2  XP_415663.2 
    lizard
    (Anolis carolinensis)    		 Reptilia RHBDL36
    		 --
    		 91(a)
    		 1 ↔ 1
    		 GL343198.1(1767011-1795899)
    zebrafish
    (Danio rerio)    		 Actinopterygii wufb98c112 Transcribed sequence with weak similarity to protein more 75.49(n)    AL726021.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta stet1 stem cell tumor 52.2(n)
    43.97(a)    		   38169  NM_176272.1  NP_788450.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea rom-16
    		 Rhomboid-related protein 1
    		 26(a)
    		 1 → many
    		 III(4907190-4908786)


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

    Paralogs
    for RHBDL3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RHBDL3 gene
    RHBDL22  RHBDL12  
    2 SIMAP similar genes for RHBDL3 using alignment to 5 protein entries:     RHBL3_HUMAN (see all proteins):
    RHBDL1    RHBDL2

    RHBDL3 for paralogs           About GeneDecksing



    Genomic Variants
    for RHBDL3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1123 NCBI SNPs in RHBDL3 are shown (see all 1123)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1885330981,2
    		--30591199(+) AATACA/GTGTTC 1 -- us2k10--------
    rs580997561,2
    		C,--30591266(+) ATATG-/TTGATA 1 -- us2k10--------
    rs360967671,2
    		C,--30591306(+) CTCCCA/-TGGGT 1 -- us2k12Minor allele frequency- -:0.25NA CSA 4
    rs99150421,2
    		C,F,A,H,--30591380(+) GTGCCC/TTTCTC 1 -- us2k1 trp311Minor allele frequency- T:0.36NA WA CSA EA 374
    rs1426525111,2
    		--30591476(+) TCATGC/TAAATG 1 -- us2k10--------
    rs571719381,2
    		F,--30591524(+) GGGCCC/GCAGCG 1 -- us2k11Minor allele frequency- G:0.13WA 118
    rs124513381,2
    		C,F,H,--30591529(+) CCAGCA/GGTCAT 1 -- us2k114Minor allele frequency- G:0.49NA WA CSA EA 378
    rs1179782141,2
    		C,F,--30591706(+) AAATAG/ATTGAA 1 -- us2k11Minor allele frequency- A:0.02EA 120
    rs769898701,2
    		F,--30591764(+) ACTCAC/ACTAAT 1 -- us2k11Minor allele frequency- A:0.03EA 120
    rs1813238741,2
    		--30591907(+) TAATGA/GAAAGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RHBDL3 (30593195 - 30651680 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for RHBDL3
         1 CNV: 72865
         2 Indels: 45528 102441

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    Disorders / Diseases
    for RHBDL3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		   --

    Publications
    for RHBDL3 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RHBDL3 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with RHBDL3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and expression of Ventrhoid, a novel vertebrate homologue of the Drosophila EGF pathway gene Rhomboid. (PubMed id 11900977)1, 2, 3 Jaszai J. and Brand M. (2002)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Ubiquitin-dependent intramembrane rhomboid protease pr omotes ERAD of membrane proteins. (PubMed id 22795130)1 Fleig L....Lemberg M.K. (2012)
    4. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (2006)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    External Searches for RHBDL3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing RHBDL3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 162494 HGNC: 16502 AceView: RHBDL4 Ensembl:ENSG00000141314 euGenes: HUgn162494
    ECgene: RHBDL3 H-InvDB: RHBDL3

    Other Databases showing RHBDL3 gene

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    Specialized Databases showing RHBDL3 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RHBDL3 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
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    IP news from LifeMap Sciences, Inc.)
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    		Patent Information for RHBDL3 gene:
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