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RHBDF1 Gene

protein-coding   GIFtS: 51
GCID: GC16M000108

Rhomboid 5 Homolog 1 (Drosophila)

(Previous names: chromosome 16 open reading frame 8, rhomboid family 1 (Drosophila))
(Previous symbol: C16orf8)
  See RHBDF1-related disease
at  

(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 5 Homolog 1 (Drosophila)1 2     Dist12
C16orf81 2 3     EGFR-RS2
Epidermal Growth Factor Receptor-Related Protein2 3     Epidermal Growth Factor Receptor, Related Sequence2
Rhomboid Family Member 12 3     gene-892
iRhom12 3     gene-902
p100hRho2 3     hDist12
DIST13 5     Inactive Rhomboid Protein 12
IRHOM13 5     Rhomboid Family 12
Chromosome 16 Open Reading Frame 81     Rhomboid 5 Homolog 13
Rhomboid Family 1 (Drosophila)1     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   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 Chromatin IP Primers for RHBDF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
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: 

  • N-glycosylated1
  • Glycosylation2 at Asn583
  • Modification sites at PhosphoSitePlus

  • See RHBDF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    RHBDF1 Human Recombinant Protein Products:

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    Novus Biologicals RHBDF1 Protein
    Novus Biologicals RHBDF1 Lysate
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    Cloud-Clone Corp. Proteins for RHBDF1

     
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    Search eBioscience for ELISAs for RHBDF1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with RHBDF1           About GenesLikeMe


    (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,
    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: 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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252NOT serine-type endopeptidase activity IDA--
    GO:0019838growth factor binding IEA--
         
    Find genes that share ontologies with RHBDF1           About GenesLikeMe


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Rhbdf1):
     adipose tissue  behavior/neurological  cardiovascular system  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     integument  mortality/aging  nervous system  reproductive system 

    Find genes that share phenotypes with RHBDF1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Rhbdf1tm1.1Mfm for RHBDF1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RHBDF1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RHBDF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RHBDF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RHBDF1

    miRNA
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    miRTarBase miRNAs that target RHBDF1:
    hsa-mir-124-3p (MIRT022709)

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    6 qRT-PCR 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
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for RHBDF1
    Predesigned siRNA for gene silencing in human, mouse, rat RHBDF1

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    GenScript: all cDNA clones in your preferred vector: RHBDF1 (NM_022450)
    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RHBDF1


    (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
    RHDF1_HUMAN, Q96CC6: Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane;
    Multi-pass membrane protein. Note=Predominantly localized in the endoplasmic reticulum membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    plasma membrane3
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    Find genes that share ontologies with RHBDF1           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 RHBDF1
    Interactions:

        Search GeneGlobe Interaction Network for RHBDF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for RHBDF1 (Q96CC63 ENSP000002623164) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TGFAP011353, ENSP000002954004I2D: score=1 STRING: ENSP00000295400
    ST7LENSP000003507344STRING: ENSP00000350734
    EGFENSP000002651714STRING: ENSP00000265171
    AMD1ENSP000003578804STRING: ENSP00000357880
    STX8ENSP000003052554STRING: ENSP00000305255
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

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

    Find genes that share ontologies with RHBDF1           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 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)



    Find genes that share compounds with RHBDF1           About GenesLikeMe



    (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 RHBDF1 gene: 
    NM_022450.3  

    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)

    miRNA
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    Block miRNA regulation of human, mouse, rat RHBDF1 using miScript Target Protectors
    6 qRT-PCR 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
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for RHBDF1
    Predesigned siRNA for gene silencing in human, mouse, rat RHBDF1
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      QuantiTect SYBR Green Assays in human, mouse, rat RHBDF1
      QuantiFast Probe-based Assays in human, mouse, rat RHBDF1

    Selected AceView cDNA sequences (see all 145):

    AI910467 BM695372 CD673883 BG751409 BM931467 AW002025 AI990448 AW590585 
    BQ890467 BF001972 BF115530 BQ068365 AI016695 AI671048 AW139277 AA858091 
    BM830007 BM991070 BQ423894 AI655808 CA312329 BE304427 AI287642 BU552499 

    GeneLoc Exon Structure

    Selected 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™, 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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    RHBDF1 expression in normal human tissues (normalized intensities)
    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
     
     Brain (Nervous System)
             Adult Oligodendrocyte Precursor Cells Lateral Ventricle
    RHBDF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RHBDF1 Protein Expression

    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
    Assay Products:
     

     
    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for RHBDF1 gene from Selected 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) 77.87(n)
    87.54(a)
      416647  XM_004945349.1  XP_004945406.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    88(a)
    many ↔ many
    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) 74.79(n)
    80.77(a)
      798402  NM_001002228.1  NP_001002228.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta rho-56
    rhomboid-5
    13(a)
    1 → many
    2L(10368025-10373900)
    worm
    (Caenorhabditis elegans)
    Secernentea rom-36
    rom-46
    Protein ROM-4, isoform c
    22(a)
    16(a)
    many ↔ many
    many ↔ many
    IV(16965284-16970490) WBGene00004402
    IV(16995777-17014946) WBGene00004403


    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)
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    Paralogs for RHBDF1 gene
    RHBDF22  
    2 SIMAP similar genes for RHBDF1 using alignment to 9 protein entries:     RHDF1_HUMAN (see all proteins):
    FLJ00080    RHBDF2

    Find genes that share paralogs with RHBDF1           About GenesLikeMe


    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), 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 RHBDF1 (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

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 614403    OMIM disorders: --

    1 disease for RHBDF1:    
    About MalaCards
    fgfr-related craniosynostosis syndromes


    Find genes that share disorders with RHBDF1           About GenesLikeMe

    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

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    PubMed articles for RHBDF1 gene, integrated from 10 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. (Dev. Dyn. 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.F.... Bernini L.F. (Mamm. Genome 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. (FASEB J. 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. (Mol. Med. 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. (Mol. Cancer Ther. 2008)
    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. 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. (Hum. Mol. Genet. 2001)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. Rhomboid family pseudoproteases use the ER quality control machinery to regulate intercellular signaling. (PubMed id 21439629)2 Zettl M.... Freeman M. (Cell 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. (Biol. Psychiatry 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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     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

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    Entrez Gene: 64285 HGNC: 20561 AceView: RHBDF1 Ensembl:ENSG00000007384 euGenes: HUgn64285
    ECgene: RHBDF1 H-InvDB: RHBDF1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

    TryGeneCards Plus
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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