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Rhbdf1 Gene Detail
Summary
  • Symbol
    Rhbdf1
  • Name
    rhomboid 5 homolog 1
  • Synonyms
    Dist, Dist1, Egfr-rs
  • Feature Type
    protein coding gene
  • IDs
    MGI:104328
    NCBI Gene: 13650
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:32159585-32172300 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 18.83 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    132 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104328
 protein coding gene Chr11:32159585-32172339 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018128
 protein coding gene Chr11:30407123-30419838 (-)
A/J MGP_AJ_G0018101
 protein coding gene Chr11:29256203-29269031 (-)
AKR/J MGP_AKRJ_G0018065
 protein coding gene Chr11:30181770-30194601 (-)
BALB/cJ MGP_BALBcJ_G0018070
 protein coding gene Chr11:29451707-29464443 (-)
C3H/HeJ MGP_C3HHeJ_G0017883
 protein coding gene Chr11:30129945-30142690 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018522
 protein coding gene Chr11:31412390-31425105 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016177
 protein coding gene Chr11:27789706-27802747 (-)
CAST/EiJ MGP_CASTEiJ_G0017445
 protein coding gene Chr11:30160641-30173415 (-)
CBA/J MGP_CBAJ_G0017856
 protein coding gene Chr11:32911096-32923860 (-)
DBA/2J MGP_DBA2J_G0017966
 protein coding gene Chr11:29055758-29068574 (-)
FVB/NJ MGP_FVBNJ_G0017960
 protein coding gene Chr11:28877523-28890510 (-)
LP/J MGP_LPJ_G0018038
 protein coding gene Chr11:30642674-30655410 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017984
 protein coding gene Chr11:33904227-33916997 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018563
 protein coding gene Chr11:30314231-30326955 (-)
PWK/PhJ MGP_PWKPhJ_G0017228
 protein coding gene Chr11:29206270-29219245 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017022
 protein coding gene Chr11:30008334-30021129 (-)
WSB/EiJ MGP_WSBEiJ_G0017498
 protein coding gene Chr11:29949384-29962123 (-)



Homology
more
  • Human Ortholog
    RHBDF1, rhomboid 5 homolog 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RHBDF1, rhomboid 5 homolog 1
  • Synonyms
    C16orf8, Dist1, EGFR-RS, gene-89, gene-90, hDist1
  • Links
    NCBI Gene ID: 64285
    neXtProt AC: NX_Q96CC6
    UniProt: Q96CC6

  • Chr Location
    16p13.3; chr16:58059-76360 (-)  GRCh38
Human Diseases
less
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    36 phenotypes from 8 alleles in 8 genetic backgrounds
    15 phenotypes from multigenic genotypes
    2 images
    36 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for a null allele show pleiotropic phenotypes and postnatal lethality largely dependent on the genetic background. Observed defects range from small size, reduced fat mass, and brain haemorrhages to small lymph organs, thrombosis, abnormal pancreatic acini, and behavioral deficits.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    19
  • GO References
    3
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    765
  • Tissues
    52
  • cDNA Data
    59
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000020282 Ensembl Gene Model | MGI Sequence Detail 12716 C57BL/6J ±  kb
    transcript ENSMUST00000020524 Ensembl | MGI Sequence Detail 2946 Not Applicable  
    polypeptide ENSMUSP00000020524 Ensembl | MGI Sequence Detail 856 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 64
      Genomic 2
      cDNA 59
      Primer pair 2
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-25656
    References
    more
    • Summaries
      All 64
      Developmental Gene Expression 7
      Diseases 2
      Gene Ontology 3
      Phenotypes 36
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:338016 Rabinowitsch AI, et al., Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice. J Cell Sci. 2023 Jul 1;136(13):jcs260910
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory