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RHBDD1 Gene

protein-coding   GIFtS: 48
GCID: GC02P227700

Rhomboid Domain Containing 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Rhomboid Domain Containing 11 2     Rhomboid-Related Protein 42
Rhomboid Domain-Containing Protein 12 3     EC 3.4.21.1053
Rhomboid-Like Protein 42 3     RHBDL43
RRP42 3     

External Ids:    HGNC: 230811   Entrez Gene: 842362   Ensembl: ENSG000001444687   UniProtKB: Q8TEB93   

Export aliases for RHBDD1 gene to outside databases

Previous GC identifers: GC02P227409 GC02P219544


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RHBDD1 Gene:
RHBDD1 (rhomboid domain containing 1) is a protein-coding gene. GO annotations related to this gene include endopeptidase activity and serine-type endopeptidase activity.

UniProtKB/Swiss-Prot: RHBL4_HUMAN, Q8TEB9
Function: Intramembrane-cleaving serine protease that cleaves single transmembrane or multi-pass membrane proteins
in the hydrophobic plane of the membrane, luminal loops and juxtamembrane regions. Involved in regulated
intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors.
Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded membrane proteins.
Required for the degradation process of some specific misfolded endoplasmic reticulum (ER) luminal proteins.
Participates in the transfer of misfolded proteins from the ER to the cytosol, where they are destroyed by the
proteasome in a ubiquitin-dependent manner. Functions in BIK, MPZ, PKD1, PTCRA, RHO, STEAP3 and TRAC processing.
Involved in the regulation of exosomal secretion; inhibits the TSAP6-mediated secretion pathway. Involved in the
regulation of apoptosis; modulates BIK-mediated apoptotic activity. Also plays a role in the regulation of
spermatogenesis; inhibits apoptotic activity in spermatogonia




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RHBDD1 gene promoter:
         AP-1   ATF-2   CUTL1   Cdc5   C/EBPalpha   CREB   AREB6   S8   deltaCREB   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRHBDD1 promoter sequence
   Search Chromatin IP Primers for RHBDD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RHBDD1


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

Entrez Gene cytogenetic band: 2q36.3   Ensembl cytogenetic band:  2q36.3   HGNC cytogenetic band: 2q36.3

RHBDD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RHBDD1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P227700:  view genomic region     (about GC identifiers)

Start:
227,700,297 bp from pter      End:
227,863,931 bp from pter
Size:
163,635 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RHBL4_HUMAN, Q8TEB9 (See protein sequence)
Recommended Name: Rhomboid-related protein 4  
Size: 315 amino acids; 35823 Da
Subunit: Interacts (via C-terminus domain) with VCP. Interacts with ubiquitin and ubiquitinated proteins (By
similarity). Interacts with BIK and STEAP3
Miscellaneous: According to PubMed:22795130; it is not localized in the mitochondrion
Secondary accessions: Q495B9 Q53S43 Q5EBM8 Q6P5V8 Q8IV60 Q9H057
Alternative splicing: 2 isoforms:  Q8TEB9-1   Q8TEB9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RHBDD1: NX_Q8TEB9

Explore proteomics data for RHBDD1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RHBDD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001161080.1  NP_115652.2  

    ENSEMBL proteins: 
     ENSP00000400765   ENSP00000344779   ENSP00000410384   ENSP00000414801   ENSP00000399694  
     ENSP00000388847   ENSP00000397298   ENSP00000387269   ENSP00000375914  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR022764 Peptidase_S54_rhomboid_dom

    Graphical View of Domain Structure for InterPro Entry Q8TEB9

    ProtoNet protein and cluster: Q8TEB9

    1 Blocks protein domain: IPB002610 Rhomboid-like protein

    UniProtKB/Swiss-Prot: RHBL4_HUMAN, Q8TEB9
    Similarity: Belongs to the peptidase S54 family


    Find genes that share domains with RHBDD1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RHBL4_HUMAN, Q8TEB9
    Function: Intramembrane-cleaving serine protease that cleaves single transmembrane or multi-pass membrane proteins
    in the hydrophobic plane of the membrane, luminal loops and juxtamembrane regions. Involved in regulated
    intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors.
    Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded membrane proteins.
    Required for the degradation process of some specific misfolded endoplasmic reticulum (ER) luminal proteins.
    Participates in the transfer of misfolded proteins from the ER to the cytosol, where they are destroyed by the
    proteasome in a ubiquitin-dependent manner. Functions in BIK, MPZ, PKD1, PTCRA, RHO, STEAP3 and TRAC processing.
    Involved in the regulation of exosomal secretion; inhibits the TSAP6-mediated secretion pathway. Involved in the
    regulation of apoptosis; modulates BIK-mediated apoptotic activity. Also plays a role in the regulation of
    spermatogenesis; inhibits apoptotic activity in spermatogonia
    Catalytic activity: Cleaves type-1 transmembrane domains using a catalytic dyad composed of serine and histidine
    that are contributed by different transmembrane domains
    Enzyme regulation: Inhibited by aprotinin
    Induction: Up-regulated by endoplasmic reticulum stress agents that induce the unfolded protein response (UPR)

         Enzyme Number (IUBMB): EC 3.4.21.1051

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004175endopeptidase activity IDA--
    GO:0004252serine-type endopeptidase activity IEA--
    GO:0005515protein binding IPI18953687
         
    Find genes that share ontologies with RHBDD1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for RHBDD1:
     Increased G1 DNA content 

         1 MGI phenotypic allele for Rhbdd1 (no phenotypes)

    Find genes that share phenotypes with RHBDD1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Rhbdd1tm1.1Mfm for RHBDD1

       genOway: Develop your customized and physiologically relevant rodent model for RHBDD1

    miRNA
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    hsa-mir-218-5p (MIRT024241), hsa-mir-33a-5p (MIRT028195)

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    Selected qRT-PCR Assays for microRNAs that regulate RHBDD1 (see all 17):
    hsa-miR-29c hsa-miR-29a hsa-miR-374a hsa-miR-520a-5p hsa-miR-3150b-3p hsa-miR-641 hsa-miR-3662 hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidRHBDD1 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RHBL4_HUMAN, Q8TEB9: Membrane; Multi-pass membrane protein (Potential). Endoplasmic reticulum membrane;
    Multi-pass membrane protein. Mitochondrion (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    mitochondrion3
    cytosol1
    extracellular1
    golgi apparatus1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005789endoplasmic reticulum membrane ISS--
    GO:0016021integral component of membrane ----
    GO:0030176integral component of endoplasmic reticulum membrane ISS--
    GO:0044322endoplasmic reticulum quality control compartment ISS--

    Find genes that share ontologies with RHBDD1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RHBDD1
    Interactions:

        Search GeneGlobe Interaction Network for RHBDD1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for RHBDD1 (Q8TEB93 ENSP000003447794) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SH3GLB2Q9NR463I2D: score=1 
    RTN3ENSP000003441064STRING: ENSP00000344106
    VAPAENSP000003456564STRING: ENSP00000345656
    VAPBENSP000004171754STRING: ENSP00000417175
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--
    GO:0010954positive regulation of protein processing ISS--
    GO:0030433ER-associated ubiquitin-dependent protein catabolic process ISS--
    GO:0031293membrane protein intracellular domain proteolysis ISS--
    GO:0033619membrane protein proteolysis IDA18953687

    Find genes that share ontologies with RHBDD1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RHBDD1 (RHBL4)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RHBDD1 gene (2 alternative transcripts): 
    NM_001167608.1  NM_032276.3  

    Unigene Cluster for RHBDD1:

    Rhomboid domain containing 1
    Hs.471514  [show with all ESTs]
    Unigene Representative Sequence: NM_001167608
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000424132 ENST00000341329(uc002voi.3 uc010fxc.3 uc002voj.3)
    ENST00000437454 ENST00000443477 ENST00000423616 ENST00000448992 ENST00000539613
    ENST00000450679 ENST00000436481 ENST00000409053 ENST00000491490 ENST00000473218
    ENST00000493526 ENST00000483268 ENST00000392062(uc021vxo.1)
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    Selected qRT-PCR Assays for microRNAs that regulate RHBDD1 (see all 17):
    hsa-miR-29c hsa-miR-29a hsa-miR-374a hsa-miR-520a-5p hsa-miR-3150b-3p hsa-miR-641 hsa-miR-3662 hsa-miR-3163
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    Additional mRNA sequence: 

    AK026955.1 AK074258.1 AK093986.1 AL512717.1 AL832364.1 AY640233.1 BC015553.1 BC027900.1 
    BC062636.1 BC071679.1 BC089404.1 BC101262.1 BC101263.1 BC101264.1 BC101265.1 BC111056.1 

    11 DOTS entries:

    DT.410318  DT.75100924  DT.65286125  DT.97840670  DT.100772893  DT.100794914  DT.97767190  DT.100794910 
    DT.100772892  DT.100794913  DT.100794917 

    Selected AceView cDNA sequences (see all 129):

    AA905237 BX090911 AX748395 BC027900 AI889373 BE217946 AA916801 AI076847 
    BQ049268 BM874534 CD671666 AI300229 CA427876 CA435709 BE139537 AA742295 
    AA465270 AL693548 AI452883 AV649526 BQ228178 CA434330 BX402251 BC062636 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RHBDD1 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11a · 11b
    SP1:              -     -     -     -                                                                                                               
    SP2:                                -                                                                                                               
    SP3:                                                                                                                    -                           
    SP4:                                                                                                                                                
    SP5:              -     -     -     -     -                                                                                                         


    ECgene alternative splicing isoforms for RHBDD1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RHBDD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    RHBDD1 Expression
    About this image

    RHBDD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RHBDD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.471514

    UniProtKB/Swiss-Prot: RHBL4_HUMAN, Q8TEB9
    Tissue specificity: Expressed strongly in testis

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHBDD1

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RHBDD1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rhbdd11 , 5 rhomboid domain containing 11, 5 81.06(n)1
    80.95(a)1
      1 (42.08 cM)5
    768671  NM_001122685.11  NP_001116157.11 
     823164525 
    chicken
    (Gallus gallus)
    Aves RHBDD11 rhomboid domain containing 1 66.67(n)
    62.66(a)
      424800  XM_422616.4  XP_422616.1 
    lizard
    (Anolis carolinensis)
    Reptilia RHBDD16
    rhomboid domain containing 1
    58(a)
    1 ↔ 1
    3(23670816-23710982)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.72352 Transcribed sequences 71.43(n)    AL888635.2 
    zebrafish
    (Danio rerio)
    Actinopterygii rhbdd11 rhomboid domain containing 1 59.98(n)
    60.19(a)
      550277  NM_001017614.1  NP_001017614.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RBL141 RBL14 51.02(n)
    40.78(a)
      821028  NM_180275.2  NP_850606.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g02835001 Os01g0283500 46(n)
    37.64(a)
      4327907  NM_001049301.1  NP_001042766.1 


    ENSEMBL Gene Tree for RHBDD1 (if available)
    TreeFam Gene Tree for RHBDD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RHBDD1 gene

    Find genes that share paralogs with RHBDD1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for RHBDD1
    PGOHUM00000243805


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RHBDD1 (see all 3022)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs168227241,2
    C,F--227698796(+) ATATTG/TCTTAC 2 -- us2k15Minor allele frequency- N:0.04NA EA 218
    rs107182301,2
    C--227698798(+) ATTTCT/-TACAT 2 -- us2k11Minor allele frequency- -:0.00NA 2
    rs1928182461,2
    --227699034(+) CTAGGA/GAAATA 2 -- us2k10--------
    rs1852031521,2
    --227699138(+) GGAGGA/CGTATA 2 -- us2k10--------
    rs621910121,2
    C--227699156(+) TCTAGG/AAAAGA 2 -- us2k13Minor allele frequency- A:0.12NA EA 242
    rs168227261,2
    C,F--227699161(+) GAAAGA/GGGTAA 2 -- us2k1 tfbs3 trp39Minor allele frequency- G:0.31NA WA CSA EA 505
    rs1384816941,2
    --227699212(+) TTCTTC/TGTCAC 2 -- us2k10--------
    rs1901033731,2
    --227699346(+) TTTAGG/TCAGTT 2 -- us2k10--------
    rs1931209621,2
    --227699397(+) CCAATA/CAACAA 2 -- us2k10--------
    rs1846470141,2
    --227699461(+) GAGCAC/TCTTTA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for RHBDD1 (227700297 - 227863931 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for RHBDD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2667541CNV Deletion23128226
    nsv3191CNV Insertion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RHBDD1
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    (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.)
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    Find genes that share disorders with RHBDD1           About GenesLikeMe

    Genetic Association Database (GAD): RHBDD1

    Export disorders for RHBDD1 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)
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    PubMed articles for RHBDD1 gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with RHBDD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Exosome-related multi-pass transmembrane protein TSAP6 is a target of rhomboid protease RHBDD1-induced proteolysis. (PubMed id 22624035)1, 2 Wan C.... Wang L. (PLoS ONE 2012)
    2. A novel member of the Rhomboid family, RHBDD1, regulates BIK-mediated apoptosis. (PubMed id 18953687)1, 2 Wang Y.... Wang L. (Cell. Mol. Life Sci. 2008)
    3. Framingham Heart Study genome-wide association: results for pulmonary function measures. (PubMed id 17903307)1, 4 Wilk J.B....O'Connor G.T. (BMC Med. Genet. 2007)
    4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    5. 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. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Human and mouse proteases: a comparative genomic approach. (PubMed id 12838346)1, 3 Puente X.S.... Lopez-Otin C. (Nat. Rev. Genet. 2003)
    8. Lentivirus-mediated silencing of rhomboid domain containing 1 suppresses tumor growth and induces apoptosis in hepatoma HepG2 cells. (PubMed id 23534782)1 Liu X.N....Zang G.Q. (Asian Pac. J. Cancer Prev. 2013)
    9. Rhomboid domain containing 1 inhibits cell apoptosis by upregulating AP-1 activity and its downstream target Bcl-3. (PubMed id 23669365)1 Ren X....Wang L. (FEBS Lett. 2013)
    10. The F-box protein FBXO25 promotes the proteasome-dependent degradation of ELK-1 protein. (PubMed id 23940030)1 Teixeira F.R....Gomes M.D. (J. Biol. Chem. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84236 HGNC: 23081 AceView: DKFZp547E052.1 Ensembl:ENSG00000144468 euGenes: HUgn84236
    ECgene: RHBDD1 H-InvDB: RHBDD1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RHBDD1 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 RHBDD1 gene:
    Search GeneIP for patents involving RHBDD1

    GeneCards and IP:
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