Human Gene RAI1 (ENST00000353383.6_7) from GENCODE V48lift37
  Description: retinoic acid induced 1 (from RefSeq NM_030665.4)
Gencode Transcript: ENST00000353383.6_7
Gencode Gene: ENSG00000108557.20_12
Transcript (Including UTRs)
   Position: hg19 chr17:17,584,772-17,714,767 Size: 129,996 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr17:17,696,263-17,713,295 Size: 17,033 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2025-04-10 15:10:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:17,584,772-17,714,767)mRNA (may differ from genome)Protein (1906 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIneXtProtOMIMPubMed
ReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RAI1_HUMAN
DESCRIPTION: RecName: Full=Retinoic acid-induced protein 1;
FUNCTION: May function as a transcriptional regulator. Regulates transcription through chromatin remodeling by interacting with other proteins in chromatin as well as proteins in the basic transcriptional machinery. May be important for embryonic and postnatal development. May be involved in neuronal differentiation (By similarity).
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=In neurons, localized to neurites (By similarity).
TISSUE SPECIFICITY: Expressed in all tissues examined with higher expression in the heart and brain. No expression was seen in the corpus callosum of the brain.
POLYMORPHISM: The poly-Gln tract is polymorphic and the number of Gln varies from 12 to 14. The size of the poly-Gln region may influence the age at onset of spinocerebellar ataxia type 2 (SCA2).
DISEASE: Defects in RAI1 are a cause of Smith-Magenis syndrome (SMS) [MIM:182290]. SMS is characterized by congenital mental retardation associated with development and growth delays. Affected persons have characteristic behavioral abnormalities, including self-injurious behaviors and sleep disturbance, and distinct craniofacial and skeletal anomalies.
SIMILARITY: Contains 1 PHD-type zinc finger.
SEQUENCE CAUTION: Sequence=BAB47449.1; Type=Erroneous initiation;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RAI1";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RAI1
Diseases sorted by gene-association score: smith-magenis syndrome* (1449), alacrima, achalasia, and mental retardation syndrome* (126), intellectual disability* (80), yuan-harel-lupski syndrome* (18), potocki-lupski syndrome* (18), chromosomal deletion syndrome (11), moyamoya disease (6), chromosomal disease (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.07 RPKM in Pituitary
Total median expression: 274.62 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -254.70484-0.526 Picture PostScript Text
3' UTR -622.801472-0.423 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001965 - Znf_PHD

Pfam Domains:
PF13771 - PHD-like zinc-binding domain
PF13832 - PHD-zinc-finger like domain

ModBase Predicted Comparative 3D Structure on Q7Z5J4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0035326 enhancer binding
GO:0046872 metal ion binding

Biological Process:
GO:0001501 skeletal system development
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0032922 circadian regulation of gene expression
GO:0040015 negative regulation of multicellular organism growth
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048511 rhythmic process

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion


-  Descriptions from all associated GenBank mRNAs
  AB058723 - Homo sapiens mRNA for KIAA1820 protein, partial cds.
AY172136 - Homo sapiens retinoic acid induced 1 (RAI1) mRNA, complete cds.
BC021209 - Homo sapiens retinoic acid induced 1, mRNA (cDNA clone MGC:12824 IMAGE:4137399), complete cds.
JD138080 - Sequence 119104 from Patent EP1572962.
JD330962 - Sequence 311986 from Patent EP1572962.
JD521549 - Sequence 502573 from Patent EP1572962.
JD065846 - Sequence 46870 from Patent EP1572962.
JD458969 - Sequence 439993 from Patent EP1572962.
JD192042 - Sequence 173066 from Patent EP1572962.
JD140010 - Sequence 121034 from Patent EP1572962.
JD460710 - Sequence 441734 from Patent EP1572962.
CU676870 - Synthetic construct Homo sapiens gateway clone IMAGE:100020543 5' read RAI1 mRNA.
AB384301 - Synthetic construct DNA, clone: pF1KSDA1820, Homo sapiens RAI1 gene for retinoic acid-induced protein 1, complete cds, without stop codon, in Flexi system.
KJ904660 - Synthetic construct Homo sapiens clone ccsbBroadEn_14054 RAI1 gene, encodes complete protein.
AJ271790 - Homo sapiens mRNA for retinoid-acid induced protein 1 (RAI1 gene).
JD075885 - Sequence 56909 from Patent EP1572962.
JD476208 - Sequence 457232 from Patent EP1572962.
JD458757 - Sequence 439781 from Patent EP1572962.
JD265386 - Sequence 246410 from Patent EP1572962.
JD190411 - Sequence 171435 from Patent EP1572962.
JD104927 - Sequence 85951 from Patent EP1572962.
JD095481 - Sequence 76505 from Patent EP1572962.
JD156079 - Sequence 137103 from Patent EP1572962.
JD056445 - Sequence 37469 from Patent EP1572962.
DQ597598 - Homo sapiens piRNA piR-35664, complete sequence.
JD439541 - Sequence 420565 from Patent EP1572962.
JD475988 - Sequence 457012 from Patent EP1572962.
JD072939 - Sequence 53963 from Patent EP1572962.
JD109190 - Sequence 90214 from Patent EP1572962.
JD420507 - Sequence 401531 from Patent EP1572962.
JD363992 - Sequence 345016 from Patent EP1572962.
JD547336 - Sequence 528360 from Patent EP1572962.
JD544187 - Sequence 525211 from Patent EP1572962.
AL834468 - Homo sapiens mRNA; cDNA DKFZp762L0710 (from clone DKFZp762L0710).
JD311060 - Sequence 292084 from Patent EP1572962.
JD294487 - Sequence 275511 from Patent EP1572962.
JD309511 - Sequence 290535 from Patent EP1572962.
JD399794 - Sequence 380818 from Patent EP1572962.
JD135106 - Sequence 116130 from Patent EP1572962.
JD426109 - Sequence 407133 from Patent EP1572962.
JD363355 - Sequence 344379 from Patent EP1572962.
JD195398 - Sequence 176422 from Patent EP1572962.
JD404056 - Sequence 385080 from Patent EP1572962.
JD545439 - Sequence 526463 from Patent EP1572962.
JD464059 - Sequence 445083 from Patent EP1572962.
JD187782 - Sequence 168806 from Patent EP1572962.
JD207896 - Sequence 188920 from Patent EP1572962.
JD157942 - Sequence 138966 from Patent EP1572962.
JD068782 - Sequence 49806 from Patent EP1572962.
JD248491 - Sequence 229515 from Patent EP1572962.
JD389599 - Sequence 370623 from Patent EP1572962.
JD204226 - Sequence 185250 from Patent EP1572962.
JD309714 - Sequence 290738 from Patent EP1572962.
JD068592 - Sequence 49616 from Patent EP1572962.
JD223295 - Sequence 204319 from Patent EP1572962.
JD498836 - Sequence 479860 from Patent EP1572962.
JD536099 - Sequence 517123 from Patent EP1572962.
JD269428 - Sequence 250452 from Patent EP1572962.
JD380867 - Sequence 361891 from Patent EP1572962.
JD180643 - Sequence 161667 from Patent EP1572962.
JD052564 - Sequence 33588 from Patent EP1572962.
JD337964 - Sequence 318988 from Patent EP1572962.
JD343544 - Sequence 324568 from Patent EP1572962.
JD388526 - Sequence 369550 from Patent EP1572962.
JD224705 - Sequence 205729 from Patent EP1572962.
JD193592 - Sequence 174616 from Patent EP1572962.
JD512059 - Sequence 493083 from Patent EP1572962.
JD365324 - Sequence 346348 from Patent EP1572962.
JD320614 - Sequence 301638 from Patent EP1572962.
JD121042 - Sequence 102066 from Patent EP1572962.
JD200408 - Sequence 181432 from Patent EP1572962.
JD369811 - Sequence 350835 from Patent EP1572962.
JD142360 - Sequence 123384 from Patent EP1572962.
JD339535 - Sequence 320559 from Patent EP1572962.
JD189271 - Sequence 170295 from Patent EP1572962.
JD094786 - Sequence 75810 from Patent EP1572962.
JD362307 - Sequence 343331 from Patent EP1572962.
JD472871 - Sequence 453895 from Patent EP1572962.
JD197589 - Sequence 178613 from Patent EP1572962.
JD185177 - Sequence 166201 from Patent EP1572962.
JD076695 - Sequence 57719 from Patent EP1572962.
AL834486 - Homo sapiens mRNA; cDNA DKFZp434O1430 (from clone DKFZp434O1430).
JD108991 - Sequence 90015 from Patent EP1572962.
JD040223 - Sequence 21247 from Patent EP1572962.
JD096945 - Sequence 77969 from Patent EP1572962.
AL133649 - Homo sapiens mRNA; cDNA DKFZp434A139 (from clone DKFZp434A139).
JD362149 - Sequence 343173 from Patent EP1572962.
JD398550 - Sequence 379574 from Patent EP1572962.
JD288788 - Sequence 269812 from Patent EP1572962.
JD380991 - Sequence 362015 from Patent EP1572962.
JD210926 - Sequence 191950 from Patent EP1572962.
JD278086 - Sequence 259110 from Patent EP1572962.
JD126423 - Sequence 107447 from Patent EP1572962.
JD309901 - Sequence 290925 from Patent EP1572962.
JD128227 - Sequence 109251 from Patent EP1572962.
JD194992 - Sequence 176016 from Patent EP1572962.
JD226613 - Sequence 207637 from Patent EP1572962.
JD368636 - Sequence 349660 from Patent EP1572962.
JD278486 - Sequence 259510 from Patent EP1572962.
JD479660 - Sequence 460684 from Patent EP1572962.
DQ582138 - Homo sapiens piRNA piR-32250, complete sequence.
JD196341 - Sequence 177365 from Patent EP1572962.
JD318720 - Sequence 299744 from Patent EP1572962.
JD394955 - Sequence 375979 from Patent EP1572962.
JD509791 - Sequence 490815 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000353383.1, ENST00000353383.2, ENST00000353383.3, ENST00000353383.4, ENST00000353383.5, KIAA1820, NM_030665, Q7Z5J4, Q8N3B4, Q8ND08, Q8WU64, Q96JK5, Q9H1C1, Q9H1C2, Q9UF69, RAI1_HUMAN, uc317yjs.1, uc317yjs.2
UCSC ID: ENST00000353383.6_7
RefSeq Accession: NM_030665.4
Protein: Q7Z5J4 (aka RAI1_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene RAI1:
potocki-lupski (Potocki-Lupski Syndrome)
sms (Smith-Magenis Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.