SETBP1

Protein identityUniProt · HPA

UniProt accession

Q9Y6X0

Gene

SETBP1

Ensembl

ENSG00000152217

Chromosome

18

Canonical length

1596 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nuclear bodies,Cytosol

OverviewNCBI Gene

This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

Canonical amino-acid sequenceUniProt

1596 residues, UniProt reviewed canonical sequence.

>Q9Y6X0|SETBP1
     1  MESRETLSSS RQRGGESDFL PVSSAKPPAA PGCAGEPLLS TPGPGKGIPV GGERMEPEEE
    61  DELGSGRDVD SNSNADSEKW VAGDGLEEQE FSIKEANFTE GSLKLKIQTT KRAKKPPKNL
   121  ENYICPPEIK ITIKQSGDQK VSRAGKNSKA TKEEERSHSK KKLLTASDLA ASDLKGFQPQ
   181  AYERPQKHST LHYDTGLPQD FTGDTLKPKH QQKSSSQNHM DWSTNSDSGP VTQNCFISPE
   241  SGRETASTSK IPALEPVASF AKAQGKKGSA GNTWSQLSNN NKDLLLGGVA PSPSSHSSPA
   301  PPSSSAECNG LQPLVDQDGG GTKEPPEPPT VGSKKKSSKK DVISQTIPNP DLDWVKNAQK
   361  AFDNTEGKRE GYSADSAQEA SPARQNVSSA SNPENDSSHV RITIPIKAPS LDPTNHKRKK
   421  RQSIKAVVEK IMPEKALASG ITMSSEVVNR ILSNSEGNKK DPRVPKLSKM IENESPSVGL
   481  ETGGNAEKVI PGGVSKPRKP PMVMTPPTCT DHSPSRKLPE IQHPKFAAKR RWTCSKPKPS
   541  TMLREAVMAT SDKLMLEPPS AYPITPSSPL YTNTDSLTVI TPVKKKRGRP KKQPLLTVET
   601  IHEGTSTSPV SPISREFPGT KKRKRRRNLA KLAQLVPGED KPMSEMKFHK KVGKLGVLDK
   661  KTIKTINKMK TLKRKNILNQ ILSCSSSVAL KAKAPPETSP GAAAIESKLG KQINVSKRGT
   721  IYIGKKRGRK PRAELPPPSE EPKTAIKHPR PVSSQPDVPA VPSNFQSLVA SSPAAMHPLS
   781  TQLGGSNGNL SPASTETNFS ELKTMPNLQP ISALPTKTQK GIHSGTWKLS PPRLMANSPS
   841  HLCEIGSLKE ITLSPVSESH SEETIPSDSG IGTDNNSTSD QAEKSSESRR RYSFDFCSLD
   901  NPEAIPSDTS TKNRHGHRQK HLIVDNFLAH ESLKKPKHKR KRKSLQNRDD LQFLADLEEL
   961  ITKFQVFRIS HRSYTFYHEN PYPSIFRINF DHYYPVPYIQ YDPLLYLRRT SDLKSKKKRG
  1021  RPAKTNDTMT KVPFLQGFSY PIPSGSYYAP YGMPYTSMPM MNLGYYGQYP APLYLSHTLG
  1081  AASPFMRPTV PPPQFHTNSH VKMSGAAKHK AKHGVHLQGP VSMGLGDMQP SLNPPKVGSA
  1141  SLSSGRLHKR KHKHKHKHKE DRILGTHDNL SGLFAGKATG FSSHILSERL SSADKELPLV
  1201  SEKNKHKEKQ KHQHSEAGHK ASKNNFEVDT LSTLSLSDAQ HWTQAKEKGD LSSEPVDSCT
  1261  KRYSGSGGDG GSTRSENLDV FSEMNPSNDK WDSDVSGSKR RSYEGFGTYR EKDIQAFKMN
  1321  RKERSSYDSS MSPGMPSPHL KVDQTAVHSK NEGSVPTMMT RKKPAAVDSV TIPPAPVLSL
  1381  LAASAATSDA VGSSLKKRFK RREIEAIQCE VRKMCNYTKI LSTKKNLDHV NKILKAKRLQ
  1441  RQSKTGNNFV KKRRGRPRKQ PTQFDEDSRD QMPVLEKCID LPSKRGQKPS LSPLVLEPAA
  1501  SQDTIMATIE AVIHMAREAP PLPPPPPPPL PPPPPPPLPP PPPLPKTPRG GKRKHKPQAP
  1561  AQPPQQSPPQ QPLPQEEEVK AKRQRKSRGS ESEVLP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SETBP1 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)

0.67

Highest tissue expression

14 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SETBP1.

Disease | AllUniProt

Conditions SETBP1 is implicated in, by any mechanism.

• Schinzel-Giedion midface retraction syndrome (SGMFS) MIM:269150
• Myelodysplastic syndrome (MDS) MIM:614286
• Intellectual developmental disorder, autosomal dominant 29 (MRD29) MIM:616078
• Leukemia, acute myelogenous (AML) MIM:601626
• Leukemia, chronic myeloid, atypical (ACML) MIM:608232
• Leukemia, juvenile myelomonocytic (JMML) MIM:607785

Disease | GeneticClinVar

126 pathogenic / likely-pathogenic of 1,873 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual disability, autosomal dominant 29
• Schinzel-Giedion syndrome
• SETBP1-related disorder
• Inborn genetic diseases
• Intellectual disability

Disease | ImmuneIEDB

Conditions an epitope on SETBP1 was assayed in.

• glioblastoma T cell

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)

0.11

gnomAD pLI

1

gnomAD missense Z

1.1

DepMap mean gene effect

0.05

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

• regulation of DNA-templated transcription

Molecular functions

• DNA binding
• histone H3K4 methyltransferase activity

Cellular components

• cytosol
• nuclear body
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• AT hook, DNA-binding motif

KeywordsUniProt

• Acetylation
• DNA-binding
• Intellectual disability
• Nucleus
• Repeat

InteractionsUniProt · HPA

Protein binding partners of SETBP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SET