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Aliases for RHBDF1 Gene

Aliases for RHBDF1 Gene

  • Rhomboid 5 Homolog 1 (Drosophila) 2 3
  • IRhom1 3 4 6
  • Dist1 3 4 6
  • Epidermal Growth Factor Receptor-Related Protein 3 4
  • Rhomboid Family Member 1 3 4
  • P100hRho 3 4
  • C16orf8 3 4
  • Epidermal Growth Factor Receptor, Related Sequence 3
  • Chromosome 16 Open Reading Frame 8 2
  • Rhomboid Family 1 (Drosophila) 2
  • Inactive Rhomboid Protein 1 3
  • Rhomboid 5 Homolog 1 4
  • Rhomboid Family 1 3
  • EGFR-RS 3
  • Gene-89 3
  • Gene-90 3
  • HDist1 3

External Ids for RHBDF1 Gene

Previous Symbols for RHBDF1 Gene

  • C16orf8

Summaries for RHBDF1 Gene

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 esophageal cancer. 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

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

Genomics for RHBDF1 Gene

Genomic Location for RHBDF1 Gene

Start:
58,059 bp from pter
End:
78,112 bp from pter
Size:
20,054 bases
Orientation:
Minus strand

Genomic View for RHBDF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RHBDF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RHBDF1 Gene

Regulatory Elements for RHBDF1 Gene

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

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

Proteomics data for RHBDF1 Gene at MOPED

Post-translational modifications for RHBDF1 Gene

Other Protein References for RHBDF1 Gene

No data available for DME Specific Peptides for RHBDF1 Gene

Domains for RHBDF1 Gene

Protein Domains for RHBDF1 Gene

UniProtKB/Swiss-Prot:

RHDF1_HUMAN
Family:
  • Belongs to the peptidase S54 family.:
    • Q96CC6
genes like me logo Genes that share domains with RHBDF1: view

No data available for Gene Families for RHBDF1 Gene

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.

Gene Ontology (GO) - Molecular Function for RHBDF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 NOT serine-type endopeptidase activity IDA 21439629
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

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RHBDF1 Gene COMPARTMENTS Subcellular localization image for RHBDF1 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 3
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for RHBDF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IDA 18832597
GO:0005789 endoplasmic reticulum membrane IDA 18832597
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RHBDF1: view

Pathways 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:0008283 cell proliferation IMP 18832597
GO:0015031 protein transport IEA --
GO:0016477 cell migration IMP 18832597
GO:0042058 regulation of epidermal growth factor receptor signaling pathway IMP 18832597
genes like me logo Genes that share ontologies with RHBDF1: view

No data available for Pathways by source for RHBDF1 Gene

Compounds for RHBDF1 Gene

(1) Novoseek inferred chemical compound relationships for RHBDF1 Gene

Compound -log(P) Hits PubMed IDs
tyrosine 37.7 2
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:

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 for RHBDF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RHBDF1 Gene

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.
genes like me logo Genes that share expressions with RHBDF1: view

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 36
  • 99.26 (n)
  • 99.88 (a)
RHBDF1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RHBDF1 36
  • 90.68 (n)
  • 94.74 (a)
RHBDF1 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RHBDF1 36
  • 89.79 (n)
  • 95.2 (a)
RHBDF1 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rhbdf1 36
  • 88.3 (n)
  • 95.56 (a)
Rhbdf1 16
Rhbdf1 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RHBDF1 37
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RHBDF1 37
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rhbdf1 36
  • 88.19 (n)
  • 95.32 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 87 (a)
OneToMany
-- 37
  • 83 (a)
OneToMany
-- 37
  • 82 (a)
OneToMany
RHBDF1 36
  • 77.87 (n)
  • 87.54 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 88 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia rhbdf1 36
  • 69.72 (n)
  • 82.98 (a)
Str.5518 36
zebrafish
(Danio rerio)
Actinopterygii rhbdf1 36
  • 74.79 (n)
  • 80.77 (a)
rhbdf1 37
  • 79 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta rho-5 37
  • 13 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rom-3 37
  • 22 (a)
ManyToMany
rom-4 37
  • 16 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4186 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 59 (a)
ManyToMany
-- 37
  • 51 (a)
ManyToMany
Species with no ortholog for RHBDF1:
  • 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

Selected 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 Sequence Context AA Info Type MAF
rs216598 -- 58,586(+) AACCC(C/G/T)GAGAT reference, synonymous-codon
rs216599 -- 59,673(+) GGCAC(A/G)CCCTA intron-variant
rs216600 -- 60,167(+) TTCTC(C/T)CCCAC intron-variant
rs216601 -- 62,114(+) CCCCG(A/G)GGGGC intron-variant
rs216602 -- 62,153(+) AATAT(A/G)CTGCG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv904623 CNV Gain+Loss 21882294
dgv2455n71 CNV Loss 21882294
esv2422427 CNV Duplication 17116639
dgv789e1 CNV Complex 17122850
nsv518291 CNV Loss 19592680
dgv2456n71 CNV Loss 21882294
nsv904628 CNV Loss 21882294
esv988339 CNV Deletion 20482838
dgv2457n71 CNV Loss 21882294
nsv904631 CNV Loss 21882294

Relevant External Links for RHBDF1 Gene

HapMap Linkage Disequilibrium report
RHBDF1
Human Gene Mutation Database (HGMD)
RHBDF1

Disorders for RHBDF1 Gene

(1) Novoseek inferred disease relationships for RHBDF1 Gene

Disease -log(P) Hits PubMed IDs
tumors 1.35 2

Relevant External Links for RHBDF1

Genetic Association Database (GAD)
RHBDF1
Human Genome Epidemiology (HuGE) Navigator
RHBDF1
genes like me logo Genes that share disorders with RHBDF1: view

No data available for UniProtKB/Swiss-Prot 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 L.Y. (FASEB J. 2009) 3 4 23
  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. (PMID: 8318735) Kielman M.F. … Bernini L.F. (Mamm. Genome 1993) 2 3 4
  3. Characterization of a human rhomboid homolog, p100hRho/RHBDF1, which interacts with TGF-alpha family ligands. (PMID: 15965977) Nakagawa T. … Derynck R. (Dev. Dyn. 2005) 2 3 4
  4. Human rhomboid family-1 gene silencing causes apoptosis or autophagy to epithelial cancer cells and inhibits xenograft tumor growth. (PMID: 18524845) Yan Z. … Li L.Y. (Mol. Cancer Ther. 2008) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49

Products for RHBDF1 Gene

Sources for RHBDF1 Gene

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