About   Help   FAQ
Rai1 Gene Detail
Summary
  • Symbol
    Rai1
  • Name
    retinoic acid induced 1
  • Synonyms
    Gt1
  • Feature Type
    protein coding gene
  • IDs
    MGI:103291
    NCBI Gene: 19377
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:59995839-60090023 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 37.81 cM, cytoband B2
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1488 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103291
 protein coding gene Chr11:59995743-60090023 (+)
129S1/SvImJ MGP_129S1SvImJ_G0018412
 protein coding gene Chr11:59969875-60067966 (+)
A/J MGP_AJ_G0018381
 protein coding gene Chr11:57690997-57786050 (+)
AKR/J MGP_AKRJ_G0018351
 protein coding gene Chr11:59623382-59719566 (+)
BALB/cJ MGP_BALBcJ_G0018352
 protein coding gene Chr11:58035188-58130668 (+)
C3H/HeJ MGP_C3HHeJ_G0018165
 protein coding gene Chr11:59492443-59588545 (+)
C57BL/6NJ MGP_C57BL6NJ_G0018804
 protein coding gene Chr11:61868622-61964815 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016450
 protein coding gene Chr11:54933261-55026359 (+)
CAST/EiJ MGP_CASTEiJ_G0017722
 protein coding gene Chr11:59630968-59730445 (+)
CBA/J MGP_CBAJ_G0018139
 protein coding gene Chr11:64586483-64686944 (+)
DBA/2J MGP_DBA2J_G0018248
 protein coding gene Chr11:57344630-57439700 (+)
FVB/NJ MGP_FVBNJ_G0018239
 protein coding gene Chr11:57013843-57108857 (+)
LP/J MGP_LPJ_G0018321
 protein coding gene Chr11:60575272-60671699 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018263
 protein coding gene Chr11:65658833-65755048 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0018845
 protein coding gene Chr11:59651346-59748776 (+)
PWK/PhJ MGP_PWKPhJ_G0017493
 protein coding gene Chr11:57949207-58045768 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017285
 protein coding gene Chr11:59440721-59543302 (+)
WSB/EiJ MGP_WSBEiJ_G0017773
 protein coding gene Chr11:59324004-59424369 (+)



Homology
more
  • Human Ortholog
    RAI1, retinoic acid induced 1
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RAI1, retinoic acid induced 1
  • Synonyms
    SMCR, SMS
  • Links
    NCBI Gene ID: 10743
    neXtProt AC: NX_Q7Z5J4
    UniProt: Q7Z5J4

  • Chr Location
    17p11.2; chr17:17681458-17811453 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Rai1 mouse models; 1 with human RAI1 associations

Human Disease Mouse Models
      
IDs
 View 5 models
      
IDs
 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    61 phenotypes from 5 alleles in 9 genetic backgrounds
    23 phenotypes from multigenic genotypes
    34 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 disruptions of this gene usually die as embryos. Survivors have shortened life spans and show severe craniofacial and axial skeleton defects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    17
  • GO References
    9
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
    848
  • Tissues
    96
  • cDNA Data
    72
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000062115 Ensembl Gene Model | MGI Sequence Detail 94185 C57BL/6J ±  kb
    transcript ENSMUST00000064190 Ensembl | MGI Sequence Detail 7348 Not Applicable  
    polypeptide ENSMUSP00000070896 Ensembl | MGI Sequence Detail 1889 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000013692 retinoic acid-induced protein 1
      (term hierarchy)
    • InterPro Domains
      IPR034732 Extended PHD (ePHD) domain
      IPR052440 Transcriptional Regulator and Chromatin Remodeler
      IPR001965 Zinc finger, PHD-type
      IPR013083 Zinc finger, RING/FYVE/PHD-type
    • GlyGen
      Q61818 5 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (3 sites)
    Molecular
    Reagents
    less
    • All nucleic 77
      Genomic 1
      cDNA 72
      Primer pair 3
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-24173
    References
    more
    • Summaries
      All 68
      Developmental Gene Expression 7
      Diseases 7
      Gene Ontology 9
      Phenotypes 34
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:348913 Javed S, et al., Smith-Magenis syndrome protein RAI1 regulates body weight homeostasis through hypothalamic BDNF-producing neurons and neurotrophin downstream signalling. Elife. 2023 Nov 13;12
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory