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

RHBDF1 Gene

protein-coding   GIFtS: 52
GCID: GC16M000108

Rhomboid 5 Homolog 1 (Drosophila)

(Previous names: chromosome 16 open reading frame 8, rhomboid family 1 (Drosophila))
(Previous symbol: C16orf8)
Microbiology & Infectious Diseases Congress
  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 5 Homolog 1 (Drosophila)1 2     Epidermal Growth Factor Receptor, Related Sequence2
C16orf81 2 3     gene-892
Epidermal Growth Factor Receptor-Related Protein2 3     gene-902
Rhomboid Family Member 12 3     hDist12
iRhom12 3     Inactive Rhomboid Protein 12
p100hRho2 3     Rhomboid Family 12
Chromosome 16 Open Reading Frame 81     DIST13
Rhomboid Family 1 (Drosophila)1     IRHOM13
Dist12     Rhomboid 5 Homolog 13
EGFR-RS2     

External Ids:    HGNC: 205611   Entrez Gene: 642852   Ensembl: ENSG000000073847   OMIM: 6144035   UniProtKB: Q96CC63   

Export aliases for RHBDF1 gene to outside databases

Previous GC identifers: GC16M000048 GC16M000026


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

GeneCards Summary for RHBDF1 Gene: 
RHBDF1 (rhomboid 5 homolog 1 (Drosophila)) is a protein-coding gene. Diseases associated with RHBDF1 include fgfr-related craniosynostosis syndromes, and craniosynostosis, syndromic. GO annotations related to this gene include growth factor binding and serine-type endopeptidase activity. An important paralog of this gene is RHBDF2.

UniProtKB/Swiss-Prot: RHDF1_HUMAN, Q96CC6
Function: Rhomboid protease-like protein which has no protease activity but regulates the secretion of several
ligands of the epidermal growth factor receptor. Indirectly activates the epidermal growth factor receptor
signaling pathway and may thereby regulate sleep, cell survival, proliferation and migration

Gene Wiki entry for RHBDF1 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 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 RHBDF1 gene promoter:
         Max   STAT3   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRHBDF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RHBDF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RHBDF1


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

RHBDF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RHBDF1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M000108:  view genomic region     (about GC identifiers)

Start:
108,058 bp from pter      End:
126,354 bp from pter
Size:
18,297 bases      Orientation:
minus 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: RHDF1_HUMAN, Q96CC6 (See protein sequence)
Recommended Name: Inactive rhomboid protein 1  
Size: 855 amino acids; 97401 Da
Subunit: Homodimer, or homooligomer. Interacts with TGFA and HBEGF. Interacts with EGF; may retain EGF in the
endoplasmic reticulum and regulates its degradation through the endoplasmic reticulum-associated degradation
(ERAD)
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane;
Multi-pass membrane protein. Note=Predominantly localized in the endoplasmic reticulum membrane
Sequence caution: Sequence=AAA02490.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAK61212.1; Type=Erroneous gene model prediction; Sequence=ABD95905.1; Type=Erroneous gene model
prediction; Sequence=EAW85873.1; Type=Erroneous gene model prediction;
Secondary accessions: Q04842 Q1W6H2 Q4TT59 Q96S34 Q9H6E1

Explore the universe of human proteins at neXtProt for RHBDF1: NX_Q96CC6

Explore proteomics data for RHBDF1 at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96CC6

  • RHBDF1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RHBDF1 Protein Expression
    REFSEQ proteins: NP_071895.3  
    ENSEMBL proteins: 
     ENSP00000262316   ENSP00000411508   ENSP00000406397   ENSP00000412218   ENSP00000408915  
     ENSP00000394427   ENSP00000392133  

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    Cloud-Clone Corp. Proteins for RHBDF1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IDA18832597
    GO:0005789endoplasmic reticulum membrane IDA18832597
    GO:0016021integral to membrane IEA--

    RHBDF1 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
    3 InterPro protein domains:
     IPR022241 Rhomboid_SP
     IPR022764 Peptidase_S54_rhomboid_dom
     IPR002610 Peptidase_S54_rhomboid

    Graphical View of Domain Structure for InterPro Entry Q96CC6

    ProtoNet protein and cluster: Q96CC6

    1 Blocks protein domain: IPB002610 Rhomboid-like protein

    UniProtKB/Swiss-Prot: RHDF1_HUMAN, Q96CC6
    Similarity: Belongs to the peptidase S54 family


    RHBDF1 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: RHDF1_HUMAN, Q96CC6
    Function: Rhomboid protease-like protein which has no protease activity but regulates the secretion of several
    ligands of the epidermal growth factor receptor. Indirectly activates the epidermal growth factor receptor
    signaling pathway and may thereby regulate sleep, cell survival, proliferation and migration

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252NOT serine-type endopeptidase activity IDA--
    GO:0019838growth factor binding IEA--
         
    RHBDF1 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Rhbdf1):
     embryogenesis  growth/size  hematopoietic system  integument  mortality/aging 

    RHBDF1 for phenotypes           About GeneDecksing

    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RHBDF1 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHBDF1


    (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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RHBDF1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for RHBDF1 (Q96CC63 ENSP000002623164) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TGFAP011353, ENSP000002954004I2D: score=1 STRING: ENSP00000295400
    ST7LENSP000003507344STRING: ENSP00000350734
    UBCENSP000003448184STRING: ENSP00000344818
    EGFENSP000002651714STRING: ENSP00000265171
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0008283cell proliferation IMP18832597
    GO:0015031protein transport IEA--
    GO:0016477cell migration IMP18832597
    GO:0042058regulation of epidermal growth factor receptor signaling pathway IMP18832597

    RHBDF1 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

    RHBDF1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RHBDF1 (RHDF1)

    1 Novoseek inferred chemical compound relationship for RHBDF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 37.7 2 7477768 (1), 11774167 (1)

    Search CenterWatch for drugs/clinical trials and news about RHBDF1 / RHDF1

    (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,
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    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 RHBDF1 gene: 
    NM_022450.3  

    Unigene Cluster for RHBDF1:

    Rhomboid 5 homolog 1 (Drosophila)
    Hs.744992  [show with all ESTs]
    Unigene Representative Sequence: AK056708
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262316(uc002cfl.4) ENST00000428730 ENST00000448893 ENST00000486045
    ENST00000493647 ENST00000482904 ENST00000417043 ENST00000487201 ENST00000450643
    ENST00000419764 ENST00000472390 ENST00000454039(uc010uty.2 uc010bqo.1 uc010utz.2)

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    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate RHBDF1:
    hsa-miR-885-3p hsa-miR-588 hsa-miR-124 hsa-miR-323-5p hsa-miR-506 hsa-miR-548s
    SwitchGear 3'UTR luciferase reporter plasmidRHBDF1 3' UTR sequence
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    Additional mRNA sequence: 

    AK026010.1 AK056708.1 AK225408.1 AK291177.1 AK304797.1 AK304812.1 AK309097.1 BC014425.1 
    M99624.1 

    12 DOTS entries:

    DT.411584  DT.95164756  DT.40279881  DT.120717501  DT.102826038  DT.100754230  DT.100841000  DT.120717429 
    DT.120717499  DT.120717500  DT.95132587  DT.91892169 

    24/145 AceView cDNA sequences (see all 145):

    AW139277 AI338770 BF508094 AI671048 AI910467 BF115530 CD673883 AW298735 
    AW002025 BQ890467 BM986946 CA312329 AW590585 BQ423894 BM991070 BQ068365 
    AA858091 BF001972 BG751409 BM695372 BM931467 AI655808 AI990448 BM830007 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for RHBDF1 (see all 13)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a ·
    SP1:                                                                                                                                                        -   
    SP2:                                                                                                                                                        -   
    SP3:                                                                                                                                                            
    SP4:                          -                                                                                                                                 
    SP5:                                                                                                                                                            

    ExUns: 17b · 17c ^ 18 ^ 19a · 19b ^ 20a · 20b · 20c ^ 21
    SP1:                                                      
    SP2:                                                      
    SP3:                                                      
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for RHBDF1

    (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

    RHBDF1 expression in normal human tissues (normalized intensities)      RHBDF1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGCCAATAA
    RHBDF1 Expression
    About this image


    RHBDF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Brain (Nervous System)
             Adult Oligodendrocyte Precursor Cells Lateral Ventricle

    See RHBDF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RHBDF1

    SOURCE GeneReport for Unigene cluster: Hs.744992

    UniProtKB/Swiss-Prot: RHDF1_HUMAN, Q96CC6
    Tissue specificity: Highly expressed in cerebellum, cerebrum, heart, skeletal muscle, placenta, pancreatic islet
    and testis. Detected at lower levels in colon, kidney, small intestine and lung

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHBDF1

    (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 RHBDF1 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rhbdf11 , 5 rhomboid family 1 (Drosophila)1, 5 88.3(n)1
    95.56(a)1
      11 (18.83 cM)5
    136501  NM_010117.21  NP_034247.21 
     322095855 
    chicken
    (Gallus gallus)
    Aves RHBDF11 rhomboid 5 homolog 1 (Drosophila) 78.14(n)
    88.13(a)
      416647  XM_414944.3  XP_414944.2 
    lizard
    (Anolis carolinensis)
    Reptilia RHBDF16
    Uncharacterized protein
    83(a)
    1 ↔ 1
    GL343856.1(162081-163701)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.55182 Transcribed sequence with weak similarity to protein more 74.62(n)    BX712025.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rhbdf11 rhomboid 5 homolog 1 (Drosophila) 74.76(n)
    80.77(a)
      798402  NM_001002228.1  NP_001002228.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta rho-56
    rhomboid-5
    16(a)
    1 → many
    2L(10368025-10373900)
    worm
    (Caenorhabditis elegans)
    Secernentea rom-36
    rom-46
    Protein ROM-4, isoform c
    24(a)
    19(a)
    many ↔ many
    many ↔ many
    IV(16965284-16970490)
    IV(16995777-17014946)


    ENSEMBL Gene Tree for RHBDF1 (if available)
    TreeFam Gene Tree for RHBDF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RHBDF1 gene
    RHBDF22  
    2 SIMAP similar genes for RHBDF1 using alignment to 9 protein entries:     RHDF1_HUMAN (see all proteins):
    FLJ00080    RHBDF2

    RHBDF1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RHBDF1
    PGOHUM00000237542


    (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

    10/473 SNPs in RHBDF1 are shown (see all 473)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1401536711,2
    --26628(+) GGCCAG/TTCCCC 1 -- ut310--------
    rs1154979681,2
    C,F--26630(+) CCAGTC/ACCCAC 1 -- ut311Minor allele frequency- A:0.03WA 118
    rs1438615471,2
    C,F--26722(+) GAGCCC/TGCAGC 1 -- ut311Minor allele frequency- T:0.01EU 635
    rs1445587041,2
    C,F--26747(+) TGAGCG/ATCCAG 2 /D syn11Minor allele frequency- A:0.00NA 4500
    rs572361351,2
    C,F--26801(+) AGGAAC/TTCACA 2 E syn16Minor allele frequency- T:0.07WA CSA NA EU 6089
    rs1996439771,2
    C--26840(+) AAGAGG/TACCAC 2 V syn10--------
    rs1888198731,2
    C--26898(+) GGCAGC/TGTTTC 2 H R mis10--------
    rs2017217961,2
    --26947(+) GAAGGC/TGAAGG 2 T A mis10--------
    rs2165981,2
    C,F,A,H--26978(+) AACCCC/G/TGAGAT 3 S syn119MN NS EA NA WA CSA EU 6834
    rs1910002871,2
    --27006(+) TCCACA/GGCAGC 2 P L mis10--------

    HapMap Linkage Disequilibrium report for RHBDF1 (108058 - 126354 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for RHBDF1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv988339CNV Deletion20482838
    esv2422427CNV Duplication17116639
    nsv904628CNV Loss21882294
    nsv904631CNV Loss21882294
    dgv2457n71CNV Loss21882294
    nsv518291CNV Loss19592680
    dgv2456n71CNV Loss21882294
    dgv2455n71CNV Loss21882294
    nsv904623CNV Gain+Loss21882294
    dgv789e1CNV Complex17122850

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614403    OMIM disorders: --

    10 diseases for RHBDF1:    About MalaCards
    fgfr-related craniosynostosis syndromes    craniosynostosis, syndromic    craniosynostosis    esophageal cancer
    pneumonia    tuberculosis    esophagitis    endotheliitis
    gastric cancer    pancreatitis


    RHBDF1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for RHBDF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 1.35 2 7477768 (1), 18832597 (1)

    Genetic Association Database (GAD): RHBDF1
    Human Genome Epidemiology (HuGE) Navigator: RHBDF1 (2 documents)

    Export disorders for RHBDF1 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 RHBDF1 gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with RHBDF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a human rhomboid homolog, p100hRho/RHBDF1, which interacts with TGF-alpha family ligands. (PubMed id 15965977)1, 2, 3 Nakagawa T.... Derynck R. (2005)
    2. Homology of a 130-kb region enclosing the alpha-globin gene cluster, the alpha-locus controlling region, and two non-globin genes in human and mouse. (PubMed id 8318735)1, 2, 3 Kielman M.... Bernini L.F. (1993)
    3. Human rhomboid family-1 gene RHBDF1 participates in GPCR-mediated transactivation of EGFR growth signals in head and neck squamous cancer cells. (PubMed id 18832597)1, 2, 9 Zou H....Li L.Y. (2009)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Human rhomboid family-1 gene silencing causes apoptosis or autophagy to epithelial cancer cells and inhibits xenograft tumor growth. (PubMed id 18524845)1, 2 Yan Z....Li L.Y. (2008)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. 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)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Rhomboid family pseudoproteases use the ER quality control machinery to regulate intercellular signaling. (PubMed id 21439629)2 Zettl M.... Freeman M. (2011)
    10. Convergent Animal and Human Evidence Suggests a Role of PPM1A Gene in Response to Antidepressants. (PubMed id 20970119)1 Malki K....Schalkwyk L.C. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 64285 HGNC: 20561 AceView: RHBDF1 Ensembl:ENSG00000007384 euGenes: HUgn64285
    ECgene: RHBDF1 H-InvDB: RHBDF1

    (According to HUGE)
    About This Section
      --

    (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 RHBDF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RHBDF1 gene:
    Search GeneIP for patents involving RHBDF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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