Seroatlas · Human Serome Atlas

RAI1

Retinoic acid-induced protein 1

Also known as: DKFZP434A139, KIAA1820, MGC12824, RAI1_HUMAN, SMCR, SMS

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q7Z5J4
Gene: RAI1
Ensembl: ENSG00000108557
Chromosome: 17
Canonical length: 1906 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1906 residues, UniProt reviewed canonical sequence.

>Q7Z5J4|RAI1
     1  MQSFRERCGF HGKQQNYQQT SQETSRLENY RQPSQAGLSC DRQRLLAKDY YNPQPYPSYE
    61  GGAGTPSGTA AAVAADKYHR GSKALPTQQG LQGRPAFPGY GVQDSSPYPG RYAGEESLQA
   121  WGAPQPPPPQ PQPLPAGVAK YDENLMKKTA VPPSRQYAEQ GAQVPFRTHS LHVQQPPPPQ
   181  QPLAYPKLQR QKLQNDIASP LPFPQGTHFP QHSQSFPTSS TYSSSVQGGG QGAHSYKSCT
   241  APTAQPHDRP LTASSSLAPG QRVQNLHAYQ SGRLSYDQQQ QQQQQQQQQQ QALQSRHHAQ
   301  ETLHYQNLAK YQHYGQQGQG YCQPDAAVRT PEQYYQTFSP SSSHSPARSV GRSPSYSSTP
   361  SPLMPNLENF PYSQQPLSTG AFPAGITDHS HFMPLLNPSP TDATSSVDTQ AGNCKPLQKD
   421  KLPENLLSDL SLQSLTALTS QVENISNTVQ QLLLSKAAVP QKKGVKNLVS RTPEQHKSQH
   481  CSPEGSGYSA EPAGTPLSEP PSSTPQSTHA EPQEADYLSG SEDPLERSFL YCNQARGSPA
   541  RVNSNSKAKP ESVSTCSVTS PDDMSTKSDD SFQSLHGSLP LDSFSKFVAG ERDCPRLLLS
   601  ALAQEDLASE ILGLQEAIGE KADKAWAEAP SLVKDSSKPP FSLENHSACL DSVAKSAWPR
   661  PGEPEALPDS LQLDKGGNAK DFSPGLFEDP SVAFATPDPK KTTGPLSFGT KPTLGVPAPD
   721  PTTAAFDCFP DTTAASSADS ANPFAWPEEN LGDACPRWGL HPGELTKGLE QGGKASDGIS
   781  KGDTHEASAC LGFQEEDPPG EKVASLPGDF KQEEVGGVKE EAGGLLQCPE VAKADRWLED
   841  SRHCCSTADF GDLPLLPPTS RKEDLEAEEE YSSLCELLGS PEQRPGMQDP LSPKAPLICT
   901  KEEVEEVLDS KAGWGSPCHL SGESVILLGP TVGTESKVQS WFESSLSHMK PGEEGPDGER
   961  APGDSTTSDA SLAQKPNKPA VPEAPIAKKE PVPRGKSLRS RRVHRGLPEA EDSPCRAPVL
  1021  PKDLLLPESC TGPPQGQMEG AGAPGRGASE GLPRMCTRSL TALSEPRTPG PPGLTTTPAP
  1081  PDKLGGKQRA AFKSGKRVGK PSPKAASSPS NPAALPVASD SSPMGSKTKE TDSPSTPGKD
  1141  QRSMILRSRT KTQEIFHSKR RRPSEGRLPN CRATKKLLDN SHLPATFKVS SSPQKEGRVS
  1201  QRARVPKPGA GSKLSDRPLH ALKRKSAFMA PVPTKKRNLV LRSRSSSSSN ASGNGGDGKE
  1261  ERPEGSPTLF KRMSSPKKAK PTKGNGEPAT KLPPPETPDA CLKLASRAAF QGAMKTKVLP
  1321  PRKGRGLKLE AIVQKITSPS LKKFACKAPG ASPGNPLSPS LSDKDRGLKG AGGSPVGVEE
  1381  GLVNVGTGQK LPTSGADPLC RNPTNRSLKG KLMNSKKLSS TDCFKTEAFT SPEALQPGGT
  1441  ALAPKKRSRK GRAGAHGLSK GPLEKRPYLG PALLLTPRDR ASGTQGASED NSGGGGKKPK
  1501  MEELGLASQP PEGRPCQPQT RAQKQPGHTN YSSYSKRKRL TRGRAKNTTS SPCKGRAKRR
  1561  RQQQVLPLDP AEPEIRLKYI SSCKRLRSDS RTPAFSPFVR VEKRDAFTTI CTVVNSPGDA
  1621  PKPHRKPSSS ASSSSSSSSF SLDAAGASLA TLPGGSILQP RPSLPLSSTM HLGPVVSKAL
  1681  STSCLVCCLC QNPANFKDLG DLCGPYYPEH CLPKKKPKLK EKVRPEGTCE EASLPLERTL
  1741  KGPECAAAAT AGKPPRPDGP ADPAKQGPLR TSARGLSRRL QSCYCCDGRE DGGEEAAPAD
  1801  KGRKHECSKE APAEPGGEAQ EHWVHEACAV WTGGVYLVAG KLFGLQEAMK VAVDMMCSSC
  1861  QEAGATIGCC HKGCLHTYHY PCASDAGCIF IEENFSLKCP KHKRLP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RAI1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.65
Highest tissue expression: 18 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 18 nTPM
cervix: 17 nTPM
pituitary gland: 17 nTPM
endometrium: 16 nTPM
urinary bladder: 16 nTPM
ovary: 15 nTPM

Single-cell type

papillary tip epithelial cells: 175 nCPM
prostatic hillock cells: 153 nCPM
gonadotrophs: 113 nCPM
epicardial cells: 111 nCPM
renal connecting tubule cells: 106 nCPM
choroid plexus epithelial cells: 106 nCPM

Immune cell

plasmacytoid DC: 0.7 nTPM
NK-cell: 0.6 nTPM
non-classical monocyte: 0.3 nTPM
classical monocyte: 0.2 nTPM
intermediate monocyte: 0.2 nTPM
naive B-cell: 0.2 nTPM

Brain region

cerebral cortex: 75 nTPM
cerebellum: 59 nTPM
amygdala: 58 nTPM
basal ganglia: 58 nTPM
white matter: 55 nTPM
hippocampal formation: 54 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RAI1.

Disease | AllUniProt

Conditions RAI1 is implicated in, by any mechanism.

Smith-Magenis syndrome (SMS) MIM:182290

Disease | GeneticClinVar

165 pathogenic / likely-pathogenic of 2,500 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.12
gnomAD pLI: 1
gnomAD missense Z: 1.12
DepMap mean gene effect: -0.08
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

zinc ion binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RAI1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

PIN1

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RAI1 as an antibody target. Whether an autoantibody or antibody against RAI1 could matter depends on whether native RAI1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RAI1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label RAI1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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