AFF3

Protein identityUniProt · HPA

UniProt accession

P51826

Gene

AFF3

Ensembl

ENSG00000144218

Chromosome

2

Canonical length

1226 aa

Protein class

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

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1226 residues, UniProt reviewed canonical sequence.

>P51826|AFF3
     1  MDSFDLALLQ EWDLESLCVY EPDRNALRRK ERERRNQETQ QDDGTFNSSY SLFSEPYKTN
    61  KGDELSNRIQ NTLGNYDEMK DFLTDRSNQS HLVGVPKPGV PQTPVNKIDE HFVADSRAQN
   121  QPSSICSTTT STPAAVPVQQ SKRGTMGWQK AGHPPSDGQQ RATQQGSLRT LLGDGVGRQQ
   181  PRAKQVCNVE VGLQTQERPP AMAAKHSSSG HCVQNFPPSL ASKPSLVQQK PTAYVRPMDG
   241  QDQAPDESPK LKSSSETSVH CTSYRGVPAS KPEPARAKAK LSKFSIPKQG EESRSGETNS
   301  CVEEIIREMT WLPPLSAIQA PGKVEPTKFP FPNKDSQLVS SGHNNPKKGD AEPESPDNGT
   361  SNTSMLEDDL KLSSDEEENE QQAAQRTALR ALSDSAVVQQ PNCRTSVPSS KGSSSSSSSG
   421  SSSSSSDSES SSGSDSETES SSSESEGSKP PHFSSPEAEP ASSNKWQLDK WLNKVNPHKP
   481  PILIQNESHG SESNQYYNPV KEDVQDCGKV PDVCQPSLRE KEIKSTCKEE QRPRTANKAP
   541  GSKGVKQKSP PAAVAVAVSA AAPPPAVPCA PAENAPAPAR RSAGKKPTRR TERTSAGDGA
   601  NCHRPEEPAA ADALGTSVVV PPEPTKTRPC GNNRASHRKE LRSSVTCEKR RTRGLSRIVP
   661  KSKEFIETES SSSSSSSDSD LESEQEEYPL SKAQTVAASA SSGNDQRLKE AAANGGSGPR
   721  APVGSINART TSDIAKELEE QFYTLVPFGR NELLSPLKDS DEIRSLWVKI DLTLLSRIPE
   781  HLPQEPGVLS APATKDSESA PPSHTSDTPA EKALPKSKRK RKCDNEDDYR EIKKSQGEKD
   841  SSSRLATSTS NTLSANHCNM NINSVAIPIN KNEKMLRSPI SPLSDASKHK YTSEDLTSSS
   901  RPNGNSLFTS ASSSKKPKAD SQLQPHGGDL TKAAHNNSEN IPLHKSRPQT KPWSPGSNGH
   961  RDCKRQKLVF DDMPRSADYF MQEAKRMKHK ADAMVEKFGK ALNYAEAALS FIECGNAMEQ
  1021  GPMESKSPYT MYSETVELIR YAMRLKTHSG PNATPEDKQL AALCYRCLAL LYWRMFRLKR
  1081  DHAVKYSKAL IDYFKNSSKA AQAPSPWGAS GKSTGTPSPM SPNPSPASSV GSQGSLSNAS
  1141  ALSPSTIVSI PQRIHQMAAN HVSITNSILH SYDYWEMADN LAKENREFFN DLDLLMGPVT
  1201  LHSSMEHLVQ YSQQGLHWLR NSAHLS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AFF3 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)

0.62

Highest tissue expression

15 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AFF3.

Disease | AllUniProt

Conditions AFF3 is implicated in, by any mechanism.

• KINSSHIP syndrome (KINS) MIM:619297

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 328 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• KINSSHIP syndrome
• Inborn genetic diseases
• AFF3-associated disorder
• AFF3-related neurodevelopmental disorders
• See cases

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)

0.22

gnomAD pLI

1

gnomAD missense Z

1.71

DepMap mean gene effect

-0.15

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

• embryonic hindlimb morphogenesis
• regulation of gene expression
• response to tumor necrosis factor

Molecular functions

• DNA-binding transcription factor activity
• double-stranded DNA binding

Cellular components

• cytosol
• nuclear body
• nucleoplasm
• nucleus
• super elongation complex

Protein domainsUniProt · Pfam · InterPro

• AF4/FMR2 family
• AF4 interaction motif
• AF4/FMR2, C-terminal homology domain
• AF-4 proto-oncoprotein N-terminal region
• AF4 interaction motif
• AFF4, C-terminal homology domain

KeywordsUniProt

• Activator
• DNA-binding
• Dwarfism
• Intellectual disability
• Nucleus
• Phosphoprotein
• Transcription
• Transcription regulation