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Raph1 Gene Detail
Summary
  • Symbol
    Raph1
  • Name
    Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
  • Synonyms
    9430025M21Rik, C730009O10Rik, lamellipodin, Lpd
  • Feature Type
    protein coding gene
  • IDs
    MGI:1924550
    NCBI Gene: 77300
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:60521451-60606263 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 30.48 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1620 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1924550
 protein coding gene Chr1:60509997-60606263 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016078
 protein coding gene Chr1:60567479-60653147 (-)
A/J MGP_AJ_G0016061
 protein coding gene Chr1:58406864-58491587 (-)
AKR/J MGP_AKRJ_G0016017
 protein coding gene Chr1:60066546-60155418 (-)
BALB/cJ MGP_BALBcJ_G0016016
 protein coding gene Chr1:58438443-58523586 (-)
C3H/HeJ MGP_C3HHeJ_G0015848
 protein coding gene Chr1:60302684-60389423 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016469
 protein coding gene Chr1:62913846-63006259 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014190
 protein coding gene Chr1:54630395-54711765 (-)
CAST/EiJ MGP_CASTEiJ_G0015430
 protein coding gene Chr1:59510483-59596657 (-)
CBA/J MGP_CBAJ_G0015820
 protein coding gene Chr1:64901810-64990851 (-)
DBA/2J MGP_DBA2J_G0015921
 protein coding gene Chr1:57838058-57922024 (-)
FVB/NJ MGP_FVBNJ_G0015923
 protein coding gene Chr1:57128615-57213962 (-)
LP/J MGP_LPJ_G0015993
 protein coding gene Chr1:61431906-61520418 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0015943
 protein coding gene Chr1:67778173-67879760 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0016516
 protein coding gene Chr1:59965557-60053837 (-)
PWK/PhJ MGP_PWKPhJ_G0015217
 protein coding gene Chr1:57188887-57277369 (-)
SPRET/EiJ MGP_SPRETEiJ_G0014997
 protein coding gene Chr1:59505073-59591288 (-)
WSB/EiJ MGP_WSBEiJ_G0015493
 protein coding gene Chr1:59672531-59758418 (-)



Homology
more
  • Human Ortholog
    RAPH1, Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RAPH1, Ras association (RalGDS/AF-6) and pleckstrin homology domains 1
  • Synonyms
    ALS2CR18, ALS2CR9, LPD, PREL-2, PREL2, RalGDS/AF-6, RMO1
  • Links
    NCBI Gene ID: 65059
    neXtProt AC: NX_Q70E73
    UniProt: Q70E73

  • Chr Location
    2q33.2; chr2:203394345-203535335 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    19 phenotypes from 3 alleles in 6 genetic backgrounds
    2 images
    22 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.
Mice homozygous for a conditional allele activated in all cells exhibit background sensitive neonatal or postnatal lethality, decreased body size, belly spotting and decreased melanocyte numbers in the trunk.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    10
  • 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
membraneless 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
    707
  • Tissues
    1
  • cDNA Data
    10
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000026014 Ensembl Gene Model | MGI Sequence Detail 84813 C57BL/6J ±  kb
    transcript ENSMUST00000140485 Ensembl | MGI Sequence Detail 10024 Not Applicable  
    polypeptide ENSMUSP00000121023 Ensembl | MGI Sequence Detail 1266 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • InterPro Domains
      IPR039665 APBB1IP, PH domain
      IPR039664 GRB/APBB1IP
      IPR011993 PH-like domain superfamily
      IPR001849 Pleckstrin homology domain
      IPR000159 Ras-associating domain
      IPR029071 Ubiquitin-like domain superfamily
    • GlyGen
      F2Z3U3 7 sites, 2 N-linked glycans (3 sites), 1 O-linked glycan (4 sites)
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 10

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:3028042
    References
    more
    • Summaries
      All 46
      Developmental Gene Expression 1
      Gene Ontology 3
      Phenotypes 22
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory