Seroatlas · Human Serome Atlas

AFF4

AF4/FMR2 family member 4

Also known as: AF5Q31, AFF4_HUMAN, MCEF

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

Protein identityUniProt · HPA

UniProt accession: Q9UHB7
Gene: AFF4
Ensembl: ENSG00000072364
Chromosome: 5
Canonical length: 1163 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nucleoli fibrillar center,Nuclear bodies

OverviewNCBI Gene

The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]

Canonical amino-acid sequenceUniProt

1163 residues, UniProt reviewed canonical sequence.

>Q9UHB7|AFF4
     1  MNREDRNVLR MKERERRNQE IQQGEDAFPP SSPLFAEPYK VTSKEDKLSS RIQSMLGNYD
    61  EMKDFIGDRS IPKLVAIPKP TVPPSADEKS NPNFFEQRHG GSHQSSKWTP VGPAPSTSQS
   121  QKRSSGLQSG HSSQRTSAGS SSGTNSSGQR HDRESYNNSG SSSRKKGQHG SEHSKSRSSS
   181  PGKPQAVSSL NSSHSRSHGN DHHSKEHQRS KSPRDPDANW DSPSRVPFSS GQHSTQSFPP
   241  SLMSKSNSML QKPTAYVRPM DGQESMEPKL SSEHYSSQSH GNSMTELKPS SKAHLTKLKI
   301  PSQPLDASAS GDVSCVDEIL KEMTHSWPPP LTAIHTPCKT EPSKFPFPTK ESQQSNFGTG
   361  EQKRYNPSKT SNGHQSKSML KDDLKLSSSE DSDGEQDCDK TMPRSTPGSN SEPSHHNSEG
   421  ADNSRDDSSS HSGSESSSGS DSESESSSSD SEANEPSQSA SPEPEPPPTN KWQLDNWLNK
   481  VNPHKVSPAS SVDSNIPSSQ GYKKEGREQG TGNSYTDTSG PKETSSATPG RDSKTIQKGS
   541  ESGRGRQKSP AQSDSTTQRR TVGKKQPKKA EKAAAEEPRG GLKIESETPV DLASSMPSSR
   601  HKAATKGSRK PNIKKESKSS PRPTAEKKKY KSTSKSSQKS REIIETDTSS SDSDESESLP
   661  PSSQTPKYPE SNRTPVKPSS VEEEDSFFRQ RMFSPMEEKE LLSPLSEPDD RYPLIVKIDL
   721  NLLTRIPGKP YKETEPPKGE KKNVPEKHTR EAQKQASEKV SNKGKRKHKN EDDNRASESK
   781  KPKTEDKNSA GHKPSSNRES SKQSAAKEKD LLPSPAGPVP SKDPKTEHGS RKRTISQSSS
   841  LKSSSNSNKE TSGSSKNSSS TSKQKKTEGK TSSSSKEVKE KAPSSSSNCP PSAPTLDSSK
   901  PRRTKLVFDD RNYSADHYLQ EAKKLKHNAD ALSDRFEKAV YYLDAVVSFI ECGNALEKNA
   961  QESKSPFPMY SETVDLIKYT MKLKNYLAPD ATAADKRLTV LCLRCESLLY LRLFKLKKEN
  1021  ALKYSKTLTE HLKNSYNNSQ APSPGLGSKA VGMPSPVSPK LSPGNSGNYS SGASSASASG
  1081  SSVTIPQKIH QMAASYVQVT SNFLYATEIW DQAEQLSKEQ KEFFAELDKV MGPLIFNASI
  1141  MTDLVRYTRQ GLHWLRQDAK LIS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AFF4 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): 0.61
Highest tissue expression: 44 nTPM

Expression across tissuesHPA

Tissue

retina: 44 nTPM
bone marrow: 41 nTPM
parathyroid gland: 34 nTPM
thyroid gland: 31 nTPM
adrenal gland: 27 nTPM
blood vessel: 26 nTPM

Single-cell type

neutrophils: 771 nCPM
esophageal apical cells: 696 nCPM
salivary myoepithelial cells: 616 nCPM
pituicytes/fscs: 613 nCPM
endometrial glandular cells: 551 nCPM
somatotrophs: 506 nCPM

Immune cell

basophil: 13 nTPM
naive B-cell: 6.3 nTPM
memory B-cell: 6.2 nTPM
neutrophil: 4.1 nTPM
non-classical monocyte: 4.1 nTPM
plasmacytoid DC: 4.1 nTPM

Brain region

cerebellum: 83 nTPM
cerebral cortex: 82 nTPM
hypothalamus: 81 nTPM
midbrain: 76 nTPM
white matter: 72 nTPM
basal ganglia: 69 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AFF4.

Disease | AllUniProt

Conditions AFF4 is implicated in, by any mechanism.

CHOPS syndrome (CHOPS) MIM:616368

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 761 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome

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): 0.14
gnomAD pLI: 1
gnomAD missense Z: 2.47
DepMap mean gene effect: -0.1
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of AFF4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads AFF4 as an antibody target. Whether an autoantibody or antibody against AFF4 could matter depends on whether native AFF4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AFF4 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 AFF4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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