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Aliases for RHBDF1 Gene

Aliases for RHBDF1 Gene

  • Rhomboid 5 Homolog 1 2 3 4 5
  • Epidermal Growth Factor Receptor-Related Protein 3 4
  • Rhomboid Family Member 1 3 4
  • P100hRho 3 4
  • C16orf8 3 4
  • IRhom1 3 4
  • Dist1 3 4
  • Epidermal Growth Factor Receptor, Related Sequence 3
  • Chromosome 16 Open Reading Frame 8 2
  • Rhomboid 5 Homolog 1 (Drosophila) 2
  • Rhomboid Family 1 (Drosophila) 2
  • Inactive Rhomboid Protein 1 3
  • Rhomboid Family 1 3
  • EGFR-RS 3
  • Gene-89 3
  • Gene-90 3
  • HDist1 3

External Ids for RHBDF1 Gene

Previous HGNC Symbols for RHBDF1 Gene

  • C16orf8

Previous GeneCards Identifiers for RHBDF1 Gene

  • GC16M000048
  • GC16M000026
  • GC16M000108

Summaries for RHBDF1 Gene

GeneCards Summary for RHBDF1 Gene

RHBDF1 (Rhomboid 5 Homolog 1) is a Protein Coding gene. Diseases associated with RHBDF1 include Fgfr-Related Craniosynostosis Syndromes. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and growth factor binding. An important paralog of this gene is RHBDF2.

UniProtKB/Swiss-Prot for RHBDF1 Gene

  • 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

Additional gene information for RHBDF1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RHBDF1 Gene

Genomics for RHBDF1 Gene

GeneHancer (GH) Regulatory Elements for RHBDF1 Gene

Promoters and enhancers for RHBDF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I000066 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 565.8 +2.9 2853 13.6 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 ZNF143 RHBDF1 MPG ENSG00000278995 GC16P000423 NPRL3 LUC7L ENSG00000268836 WASH4P ENSG00000228779 HBZ
GH16I000689 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13.6 -613.9 -613887 1.7 PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 POLR2B WDR24 ENSG00000261659 TELO2 ENSG00000261505 LUC7L WDR90 CRAMP1 ENSG00000260051 IFT140 ENSG00000268836
GH16I000981 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 11.5 -905.0 -905046 1.6 ZNF493 ZNF133 SIN3A GLI4 ZNF2 GLIS2 ZNF213 ZNF416 KLF7 ZNF548 ENSG00000260807 LMF1 SOX8 GC16M000980 GC16M000982 GC16P001002 WDR90 CRAMP1 ENSG00000261505 UBE2I
GH16I000323 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -250.1 -250077 5.3 PKNOX1 CLOCK ARNT NEUROD1 SIN3A FEZF1 ZNF2 YY1 ZNF766 ZNF213 LUC7L WDR90 ENSG00000228779 RHOT2 UBE2I ENSG00000261505 WDR24 JMJD8 ENSG00000262528 TMEM8A
GH16I000104 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 12.3 -28.4 -28427 1 HDAC1 TEAD4 TAL1 MAX YY1 TCF12 ZNF316 GATA2 NCOR1 CBFA2T2 HBM ENSG00000228779 NPRL3 HBZ MPG RHBDF1 HBQ1 SNRNP25 NHLRC4 GC16P000130
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RHBDF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RHBDF1 gene promoter:

Genomic Locations for RHBDF1 Gene

Genomic Locations for RHBDF1 Gene
chr16:58,059-76,355
(GRCh38/hg38)
Size:
18,297 bases
Orientation:
Minus strand
chr16:108,058-126,354
(GRCh37/hg19)

Genomic View for RHBDF1 Gene

Genes around RHBDF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RHBDF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RHBDF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHBDF1 Gene

Proteins for RHBDF1 Gene

  • Protein details for RHBDF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96CC6-RHDF1_HUMAN
    Recommended name:
    Inactive rhomboid protein 1
    Protein Accession:
    Q96CC6
    Secondary Accessions:
    • Q04842
    • Q1W6H2
    • Q4TT59
    • Q96S34
    • Q9H6E1

    Protein attributes for RHBDF1 Gene

    Size:
    855 amino acids
    Molecular mass:
    97401 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=AAA02490.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAK61212.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=ABD95905.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW85873.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for RHBDF1 Gene

Post-translational modifications for RHBDF1 Gene

No data available for DME Specific Peptides for RHBDF1 Gene

Domains & Families for RHBDF1 Gene

Gene Families for RHBDF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for RHBDF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96CC6

UniProtKB/Swiss-Prot:

RHDF1_HUMAN :
  • Belongs to the peptidase S54 family.
Family:
  • Belongs to the peptidase S54 family.
genes like me logo Genes that share domains with RHBDF1: view

Function for RHBDF1 Gene

Molecular function for RHBDF1 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for RHBDF1 Gene

Gene Ontology (GO) - Molecular Function for RHBDF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 NOT serine-type endopeptidase activity IEA,IDA 21439629
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0019838 growth factor binding IEA --
genes like me logo Genes that share ontologies with RHBDF1: view
genes like me logo Genes that share phenotypes with RHBDF1: view

Animal Models for RHBDF1 Gene

MGI Knock Outs for RHBDF1:

miRNA for RHBDF1 Gene

miRTarBase miRNAs that target RHBDF1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RHBDF1 Gene

Localization for RHBDF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RHBDF1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Note=Predominantly localized in the endoplasmic reticulum membrane (PubMed:15965977). {ECO:0000269 PubMed:15965977}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RHBDF1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 3
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RHBDF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IDA 18832597
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IDA,IEA 18832597
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RHBDF1: view

Pathways & Interactions for RHBDF1 Gene

SuperPathways for RHBDF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RHBDF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006810 transport IEA --
GO:0008283 cell proliferation IMP 18832597
GO:0015031 protein transport IEA --
GO:0016477 cell migration IMP 18832597
genes like me logo Genes that share ontologies with RHBDF1: view

No data available for Pathways by source and SIGNOR curated interactions for RHBDF1 Gene

Drugs & Compounds for RHBDF1 Gene

(1) Drugs for RHBDF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with RHBDF1: view

Transcripts for RHBDF1 Gene

Unigene Clusters for RHBDF1 Gene

Rhomboid 5 homolog 1 (Drosophila):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RHBDF1 Gene

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:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:

ExUns: 17b · 17c ^ 18 ^ 19a · 19b ^ 20a · 20b · 20c ^ 21
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: - -

Relevant External Links for RHBDF1 Gene

GeneLoc Exon Structure for
RHBDF1
ECgene alternative splicing isoforms for
RHBDF1

Expression for RHBDF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RHBDF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RHBDF1 Gene

This gene is overexpressed in Nasal epithelium (63.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RHBDF1 Gene



NURSA nuclear receptor signaling pathways regulating expression of RHBDF1 Gene:

RHBDF1

SOURCE GeneReport for Unigene cluster for RHBDF1 Gene:

Hs.744992

mRNA Expression by UniProt/SwissProt for RHBDF1 Gene:

Q96CC6-RHDF1_HUMAN
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.

Evidence on tissue expression from TISSUES for RHBDF1 Gene

  • Nervous system(4.3)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with RHBDF1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RHBDF1 Gene

Orthologs for RHBDF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RHBDF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RHBDF1 34 33
  • 99.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RHBDF1 33 34
  • 90.68 (n)
dog
(Canis familiaris)
Mammalia RHBDF1 34 33
  • 89.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rhbdf1 33 16 34
  • 88.3 (n)
rat
(Rattus norvegicus)
Mammalia Rhbdf1 33
  • 88.19 (n)
oppossum
(Monodelphis domestica)
Mammalia RHBDF1 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RHBDF1 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 87 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
-- 34
  • 82 (a)
OneToMany
RHBDF1 33
  • 77.87 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 88 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rhbdf1 33
  • 69.72 (n)
Str.5518 33
zebrafish
(Danio rerio)
Actinopterygii rhbdf1 33 34
  • 74.79 (n)
fruit fly
(Drosophila melanogaster)
Insecta rho-5 34
  • 13 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rom-3 34
  • 22 (a)
ManyToMany
rom-4 34
  • 16 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 59 (a)
ManyToMany
-- 34
  • 51 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4186 33
Species where no ortholog for RHBDF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RHBDF1 Gene

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

Paralogs for RHBDF1 Gene

Paralogs for RHBDF1 Gene

(2) SIMAP similar genes for RHBDF1 Gene using alignment to 9 proteins:

Pseudogenes.org Pseudogenes for RHBDF1 Gene

genes like me logo Genes that share paralogs with RHBDF1: view

Variants for RHBDF1 Gene

Sequence variations from dbSNP and Humsavar for RHBDF1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000068724 -- 69,592(-) G/A/T genic_upstream_transcript_variant, intron_variant
rs1000087335 -- 75,536(-) G/A/C genic_upstream_transcript_variant, intron_variant
rs1000463847 -- 62,871(-) A/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1000610570 -- 68,565(-) C/G genic_upstream_transcript_variant, intron_variant
rs1000641964 -- 68,382(-) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RHBDF1 Gene

Variant ID Type Subtype PubMed ID
dgv2688n100 CNV gain 25217958
dgv2689n100 CNV gain 25217958
dgv2690n100 CNV gain 25217958
esv2422427 CNV duplication 17116639
esv2760065 CNV gain 17122850
esv3637536 CNV loss 21293372
esv3637537 CNV gain 21293372
esv988339 CNV deletion 20482838
nsv1037456 CNV gain+loss 25217958
nsv1044142 CNV gain 25217958
nsv1044732 CNV loss 25217958
nsv1045829 CNV gain 25217958
nsv518291 CNV loss 19592680

Variation tolerance for RHBDF1 Gene

Residual Variation Intolerance Score: 78.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.60; 56.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RHBDF1 Gene

Human Gene Mutation Database (HGMD)
RHBDF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RHBDF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RHBDF1 Gene

Disorders for RHBDF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RHBDF1 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
fgfr-related craniosynostosis syndromes
  • acrocephalosyndactyly
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RHBDF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RHBDF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RHBDF1 Gene

Publications for RHBDF1 Gene

  1. Human rhomboid family-1 gene RHBDF1 participates in GPCR-mediated transactivation of EGFR growth signals in head and neck squamous cancer cells. (PMID: 18832597) Zou H … Li LY (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2009) 3 4 22 58
  2. Characterization of a human rhomboid homolog, p100hRho/RHBDF1, which interacts with TGF-alpha family ligands. (PMID: 15965977) Nakagawa T … Derynck R (Developmental dynamics : an official publication of the American Association of Anatomists 2005) 2 3 4 58
  3. 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. (PMID: 8318735) Kielman MF … Bernini LF (Mammalian genome : official journal of the International Mammalian Genome Society 1993) 2 3 4 58
  4. Rhomboid family pseudoproteases use the ER quality control machinery to regulate intercellular signaling. (PMID: 21439629) Zettl M … Freeman M (Cell 2011) 3 4 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for RHBDF1 Gene

Sources for RHBDF1 Gene

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