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

RHBDL1 Gene

protein-coding   GIFtS: 50
GCID: GC16P000725

Rhomboid, Veinlet-Like 1 (Drosophila)

(Previous names: rhomboid (veinlet, Drosophila)-like)
(Previous symbol: RHBDL)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Rhomboid, Veinlet-Like 1 (Drosophila)1 2     EC 3.4.21.1053 8
RHBDL1 2 3 5     Rhomboid (Veinlet, Drosophila)-Like1
RRP2 3 5     Rhomboid, Drosophila, Homolog Of2
Rhomboid-Like Protein 12 3     Rhomboid-Related Protein 12

External Ids:    HGNC: 100071   Entrez Gene: 90282   Ensembl: ENSG000001032697   OMIM: 6032645   UniProtKB: O757833   

Export aliases for RHBDL1 gene to outside databases

Previous GC identifers: GC16P000665 GC16P000666 GC16P000650


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RHBDL1 Gene:
This gene encodes a protein similar to Rhomboid in Drosophila which is involved in signalling in the
Spitz/epidermal growth factor receptor/mitogen-activated protein kinase pathway. The Rhomboid family of proteins
consists of intramembrane serine proteases containing several transmembrane domains. Alternative splicing results
in multiple transcript variants encoding different isoforms. (provided by RefSeq, Jul 2013)

GeneCards Summary for RHBDL1 Gene: 
RHBDL1 (rhomboid, veinlet-like 1 (Drosophila)) is a protein-coding gene. Diseases associated with RHBDL1 include leber hereditary optic neuropathy, and neuropathy. GO annotations related to this gene include serine-type endopeptidase activity and calcium ion binding. An important paralog of this gene is RHBDL2.

UniProtKB/Swiss-Prot: RHBL1_HUMAN, O75783
Function: May be involved in regulated intramembrane proteolysis and the subsequent release of functional
polypeptides from their membrane anchors (By similarity)




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RHBDL1 gene promoter:
         Sp1   p53   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRHBDL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RHBDL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RHBDL1


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

RHBDL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RHBDL1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P000725:  view genomic region     (about GC identifiers)

Start:
725,666 bp from pter      End:
728,268 bp from pter
Size:
2,603 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RHBL1_HUMAN, O75783 (See protein sequence)
Recommended Name: Rhomboid-related protein 1  
Size: 438 amino acids; 48314 Da
Subcellular location: Membrane; Multi-pass membrane protein
Secondary accessions: A2IDC0 A2IDC1 Q0VAX4 Q9NQ85
Alternative splicing: 2 isoforms:  O75783-1   O75783-2   

Explore the universe of human proteins at neXtProt for RHBDL1: NX_O75783

Explore proteomics data for RHBDL1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75783

  • 2 DME Specific Peptides for RHBDL1 (O75783)
     GRAVWLRF  GVPLEMVHG 

    RHBDL1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RHBDL1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001265649.1  NP_001265650.1  

    ENSEMBL proteins: 
     ENSP00000344206   ENSP00000455608   ENSP00000219551  

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    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral to plasma membrane TAS9662444
    GO:0016020membrane TAS9662444
    GO:0016021integral to membrane ----

    RHBDL1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR011992 EF-hand-like_dom
     IPR022764 Peptidase_S54_rhomboid_dom
     IPR002610 Peptidase_S54_rhomboid
     IPR017213 Peptidase_S54_rhomboid_met

    Graphical View of Domain Structure for InterPro Entry O75783

    ProtoNet protein and cluster: O75783

    1 Blocks protein domain: IPB002610 Rhomboid-like protein

    UniProtKB/Swiss-Prot: RHBL1_HUMAN, O75783
    Similarity: Belongs to the peptidase S54 family


    RHBDL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RHBL1_HUMAN, O75783
    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

         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--
         
    RHBDL1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RHBDL1:
     Decreased Wnt reporter activit 

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RHBDL1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for RHBDL1 (ENSP000002195514) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZWINTENSP000003630554STRING: ENSP00000363055
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0007165signal transduction TAS9662444

    RHBDL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 RHBDL1 (RHBL1)

    Search CenterWatch for drugs/clinical trials and news about RHBDL1 / RHBL1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RHBDL1 gene (3 alternative transcripts): 
    NM_001278720.1  NM_001278721.1  NM_003961.1  

    Unigene Cluster for RHBDL1:

    Rhomboid, veinlet-like 1 (Drosophila)
    Hs.137572  [show with all ESTs]
    Unigene Representative Sequence: AK294136
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000352681(uc002cir.1) ENST00000561556 ENST00000450775(uc010uun.1)
    ENST00000219551(uc002cis.1)
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    Inhib. RNA
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    Additional mRNA sequence: 

    AJ272344.1 AK294136.1 BC120874.2 BC120875.2 Y17108.1 

    3 DOTS entries:

    DT.75120768  DT.75159107  DT.95265383 

    17 AceView cDNA sequences:

    NM_003961 AJ272344 BM719830 BX109654 BM717565 Y17108 BI822562 BI544995 
    BI545043 BQ067866 BI600093 BI667844 AI343266 BQ188710 AI652564 AI961823 
    AW166279 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for RHBDL1    About this scheme

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


    ECgene alternative splicing isoforms for RHBDL1

    (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

    RHBDL1 expression in normal human tissues (normalized intensities)      RHBDL1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGTGGCCGC
    RHBDL1 Expression
    About this image


    RHBDL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             brain/forebrain/telencephalon   

    See RHBDL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RHBDL1

    SOURCE GeneReport for Unigene cluster: Hs.137572

    UniProtKB/Swiss-Prot: RHBL1_HUMAN, O75783
    Tissue specificity: Detected in heart, brain, skeletal muscle and kidney

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    (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 RHBDL1 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rhbdl11 , 5 rhomboid, veinlet-like 1 (Drosophila)1, 5 90.12(n)1
    97.51(a)1
      17 (12.93 cM)5
    2149511  NM_144816.11  NP_659065.11 
     258344655 
    chicken
    (Gallus gallus)
    Aves RHBDL11 rhomboid, veinlet-like 1 (Drosophila) 87.17(n)
    93.07(a)
      429205  XM_426761.3  XP_426761.3 
    lizard
    (Anolis carolinensis)
    Reptilia RHBDL16
    Uncharacterized protein
    90(a)
    1 ↔ 1
    AAWZ02037242(1540-16668)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005381011 rhomboid-related protein 1-like 77.1(n)
    82.26(a)
      100538101  XM_003201347.1  XP_003201395.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ru6
    rho6
    (see all 5)
    rhomboid
    (see all 5)
    29(a)
    26(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    3L(1370628-1387437)
    3L(1463811-1468944)
    worm
    (Caenorhabditis elegans)
    Secernentea rom-16
    rom-26
    Rhomboid-related protein 2
    24(a)
    17(a)
    many ↔ many
    many ↔ many
    III(4907226-4908822)
    III(9592282-9595574)


    ENSEMBL Gene Tree for RHBDL1 (if available)
    TreeFam Gene Tree for RHBDL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RHBDL1 gene
    RHBDL22  RHBDL32  
    2 SIMAP similar genes for RHBDL1 using alignment to 3 protein entries:     RHBL1_HUMAN (see all proteins):
    RHBDL3    RHBDL2

    RHBDL1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/127 SNPs in RHBDL1 are shown (see all 127)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1491264271,2
    --724685(+) AAGGCC/GTGGTC 1 -- us2k10--------
    rs2008887071,2
    --724689(+) CTGGT-/CCCCCC 1 -- us2k10--------
    rs1501535451,2
    C--724724(+) TGGCA-/GGGTGG 1 -- us2k10--------
    rs740028221,2
    C,F--724823(+) AGCCCG/CCTGTA 1 -- us2k11Minor allele frequency- C:0.50WA 2
    rs1155166781,2
    C,F--724850(+) TCTGGG/AACTAC 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1921374421,2
    --725044(+) CCTGGC/TGCCGC 1 -- us2k10--------
    rs1145452141,2
    C,F--725047(+) GGCGCC/TGCCTT 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1479020061,2
    C--725139(+) GGCTTA/GGTCGT 1 -- us2k10--------
    rs1153019491,2
    F--725169(+) GCAGCG/TTCTTC 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs38301401,2
    C,F,H--725335(-) GCTCCC/TCCTCC 1 -- us2k1 trp317Minor allele frequency- T:0.21NS EA NA WA 2322

    HapMap Linkage Disequilibrium report for RHBDL1 (725666 - 728268 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/27 variations for RHBDL1 (see all 27):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2422427CNV Duplication17116639
    dgv2475n71CNV Loss21882294
    nsv904707CNV Loss21882294
    dgv2487n71CNV Loss21882294
    nsv904796CNV Loss21882294
    dgv2492n71CNV Loss21882294
    nsv904797CNV Loss21882294
    dgv2493n71CNV Loss21882294
    nsv904759CNV Loss21882294
    dgv2479n71CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603264    OMIM disorders: --

    2 diseases for RHBDL1:    About MalaCards
    leber hereditary optic neuropathy    neuropathy

    1 disease from the University of Copenhagen DISEASES database for RHBDL1:
    Leber hereditary optic neuropathy

    RHBDL1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RHBDL1

    Export disorders for RHBDL1 gene to outside databases

    (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 RHBDL1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with RHBDL1)
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    1. Characterization of a mammalian cDNA encoding a protein with high sequence similarity to the Drosophila regulatory protein Rhomboid. (PubMed id 9662444)1, 2, 3, 9 Pascall J.C. and Brown K.D. (1998)
    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. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)1, 2 Daniels R.J....Higgs D.R. (2001)
    4. Rhomboid proteins: a role in keratinocyte proliferatio n and cancer. (PubMed id 23263464)1 Etheridge S.L....Blaydon D.C. (2013)
    5. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (2004)
    6. 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)
    7. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9028 HGNC: 10007 AceView: RHBDL1 Ensembl:ENSG00000103269 euGenes: HUgn9028
    ECgene: RHBDL1 H-InvDB: RHBDL1

    (According to HUGE)
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      --

    (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 RHBDL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RHBDL1 gene:
    Search GeneIP for patents involving RHBDL1

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