RAI1

Mammalian protein found in Homo sapiens
RAI1
Identifiers
AliasesRAI1, SMCR, SMS, retinoic acid induced 1
External IDsOMIM: 607642; MGI: 103291; HomoloGene: 7508; GeneCards: RAI1; OMA:RAI1 - orthologs
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for RAI1
Genomic location for RAI1
Band17p11.2Start17,681,458 bp[1]
End17,811,453 bp[1]
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)[2]
Chromosome 11 (mouse)
Genomic location for RAI1
Genomic location for RAI1
Band11|11 B1.3-B2Start60,105,013 bp[2]
End60,199,197 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • retinal pigment epithelium

  • nipple

  • palpebral conjunctiva

  • urethra

  • pylorus

  • tibia

  • Brodmann area 23

  • cardia

  • human penis

  • parietal lobe
Top expressed in
  • lateral septal nucleus

  • habenula

  • anterior amygdaloid area

  • olfactory tubercle

  • ventromedial nucleus

  • subiculum

  • dorsomedial hypothalamic nucleus

  • Rostral migratory stream

  • lateral hypothalamus

  • mammillary body
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • protein binding
  • metal ion binding
  • DNA-binding transcription factor activity
Cellular component
  • cytoplasm
  • mitochondrion
  • nucleoplasm
  • nucleus
Biological process
  • positive regulation of transcription, DNA-templated
  • skeletal system development
  • negative regulation of multicellular organism growth
  • regulation of transcription by RNA polymerase II
  • circadian regulation of gene expression
  • rhythmic process
  • positive regulation of transcription by RNA polymerase II
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

10743

19377

Ensembl

ENSG00000108557

ENSMUSG00000062115

UniProt

Q7Z5J4

Q61818

RefSeq (mRNA)

NM_030665
NM_017574
NM_152256

NM_001037764
NM_009021

RefSeq (protein)

NP_109590

NP_001032853
NP_033047

Location (UCSC)Chr 17: 17.68 – 17.81 MbChr 11: 60.11 – 60.2 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

RAI1 is a transcription factor associated with Smith–Magenis syndrome when individuals have deletions of the gene and Potocki–Lupski syndrome when individuals have a duplication. It is known as retinoic acid induced 1.

See also

External links

  • GeneReviews/NIH/NCBI/UW entry on Smith-Magenis Syndrome
  • RAI1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)


  • v
  • t
  • e
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000108557 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000062115 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.