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Rhbdf1
Gene Detail
 Symbol
Name
ID
Rhbdf1
rhomboid family 1 (Drosophila)
MGI:104328
Synonyms Dist, Dist1, Egfr-rs
Feature Type protein coding gene
Genetic Map
Chromosome 11
18.83 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr11:32209585-32222300 bp, - strand
From VEGA annotation of GRCm38

  12716 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:32085  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Rhbdf1

Human
homologs
Human Homolog RHBDF1, rhomboid 5 homolog 1 (Drosophila)
NCBI Gene ID 64285
neXtProt AC  NX_Q96CC6
Human Synonyms  C16orf8, Dist1, EGFR-RS, gene-89, gene-90, hDist1
Human Chr (Location)  16p13.3; chr16:58059-78112 (-)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(13) : Gene trapped(4) Targeted(9)
Incidental mutations (data from Mutagenetix , APF )
 
This gene is deleted in the Hbath-J mutation. Mice homozygous for a knock-out allele exhibit postnatal lethality and premature death with growth defects.
 
Interactions
Rhbdf1 interacts with 297 markers (Mir1b, Mir7-1, Mir7-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process cell migration, cell proliferation, ...
Component endoplasmic reticulum, endoplasmic reticulum membrane, ...
Function serine-type endopeptidase activity
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (36)    Tissues (34)    Images (8)
Theiler Stages: 1, 2, 3, 4, 7, 9, 10, 18, 20, 22, 23, 24, 25, 27, 28
Assay TypeResults
RNA in situ 9
Northern blot 12
RT-PCR 15
cDNA source data(58)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(63) Genomic(2) cDNA(58) Primer pair(2) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000005370 (Evidence)
Ensembl Gene ModelENSMUSG00000020282 (Evidence)
Entrez Gene13650 (Evidence)
UniGene11545
DFCITC1577930, TC1713353
DoTSDT.40137970, DT.94144091, DT.99840221
NIA Mouse Gene IndexU032631
Consensus CDS ProjectCCDS24519.1
International Mouse Knockout Project StatusRhbdf1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005370 VEGA Gene Model | MGI Sequence Detail 12716 C57BL/6J ±  kb
transcript OTTMUST00000011982 VEGA | MGI Sequence Detail 2946 Not Applicable 
polypeptide OTTMUSP00000005544 VEGA | MGI Sequence Detail 856 Not Applicable 

For the selected sequences
All sequences(86) RefSeq(27) UniProt(5)
Polymorphisms SNPs within 2kb(132 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002610 Peptidase S54, rhomboid
InterPro IPR022764 Peptidase S54, rhomboid domain
InterPro IPR022241 Rhomboid serine protease
Protein Ontology PR:000013968 inactive rhomboid protein 1
References (Earliest) J:12626 Kielman MF, et al., 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. Mamm Genome. 1993;4(6):314-23
(Latest) J:203951 Christova Y, et al., Mammalian iRhoms have distinct physiological functions including an essential role in TACE regulation. EMBO Rep. 2013 Oct;14(10):884-90
All references(40)
Other
accession IDs
MGD-MRK-25656

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/23/2014
MGI 5.19
The Jackson Laboratory