Seroatlas · Human Serome Atlas

AFF1

AF4/FMR2 family member 1

Also known as: AF-4, AF4, AFF1_HUMAN, FEL, MLLT2, PBM1

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

Protein identityUniProt · HPA

UniProt accession: P51825
Gene: AFF1
Ensembl: ENSG00000172493
Chromosome: 4
Canonical length: 1210 aa
Protein class: Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Mitochondria

OverviewNCBI Gene

This gene encodes a member of the AF4/ lymphoid nuclear protein related to the Fragile X E syndrome (FRAXE) family of proteins, which have been implicated in human childhood lymphoblastic leukemia, fragile chromosome X intellectual disability, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

Canonical amino-acid sequenceUniProt

1210 residues, UniProt reviewed canonical sequence.

>P51825|AFF1
     1  MAAQSSLYND DRNLLRIREK ERRNQEAHQE KEAFPEKIPL FGEPYKTAKG DELSSRIQNM
    61  LGNYEEVKEF LSTKSHTHRL DASENRLGKP KYPLIPDKGS SIPSSSFHTS VHHQSIHTPA
   121  SGPLSVGNIS HNPKMAQPRT EPMPSLHAKS CGPPDSQHLT QDRLGQEGFG SSHHKKGDRR
   181  ADGDHCASVT DSAPERELSP LISLPSPVPP LSPIHSNQQT LPRTQGSSKV HGSSNNSKGY
   241  CPAKSPKDLA VKVHDKETPQ DSLVAPAQPP SQTFPPPSLP SKSVAMQQKP TAYVRPMDGQ
   301  DQAPSESPEL KPLPEDYRQQ TFEKTDLKVP AKAKLTKLKM PSQSVEQTYS NEVHCVEEIL
   361  KEMTHSWPPP LTAIHTPSTA EPSKFPFPTK DSQHVSSVTQ NQKQYDTSSK THSNSQQGTS
   421  SMLEDDLQLS DSEDSDSEQT PEKPPSSSAP PSAPQSLPEP VASAHSSSAE SESTSDSDSS
   481  SDSESESSSS DSEENEPLET PAPEPEPPTT NKWQLDNWLT KVSQPAAPPE GPRSTEPPRR
   541  HPESKGSSDS ATSQEHSESK DPPPKSSSKA PRAPPEAPHP GKRSCQKSPA QQEPPQRQTV
   601  GTKQPKKPVK ASARAGSRTS LQGEREPGLL PYGSRDQTSK DKPKVKTKGR PRAAASNEPK
   661  PAVPPSSEKK KHKSSLPAPS KALSGPEPAK DNVEDRTPEH FALVPLTESQ GPPHSGSGSR
   721  TSGCRQAVVV QEDSRKDRLP LPLRDTKLLS PLRDTPPPQS LMVKITLDLL SRIPQPPGKG
   781  SRQRKAEDKQ PPAGKKHSSE KRSSDSSSKL AKKRKGEAER DCDNKKIRLE KEIKSQSSSS
   841  SSSHKESSKT KPSRPSSQSS KKEMLPPPPV SSSSQKPAKP ALKRSRREAD TCGQDPPKSA
   901  SSTKSNHKDS SIPKQRRVEG KGSRSSSEHK GSSGDTANPF PVPSLPNGNS KPGKPQVKFD
   961  KQQADLHMRE AKKMKQKAEL MTDRVGKAFK YLEAVLSFIE CGIATESESQ SSKSAYSVYS
  1021  ETVDLIKFIM SLKSFSDATA PTQEKIFAVL CMRCQSILNM AMFRCKKDIA IKYSRTLNKH
  1081  FESSSKVAQA PSPCIASTGT PSPLSPMPSP ASSVGSQSSA GSVGSSGVAA TISTPVTIQN
  1141  MTSSYVTITS HVLTAFDLWE QAEALTRKNK EFFARLSTNV CTLALNSSLV DLVHYTRQGF
  1201  QQLQELTKTP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AFF1 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): 0.63
Highest tissue expression: 59 nTPM

Expression across tissuesHPA

Tissue

retina: 59 nTPM
skeletal muscle: 52 nTPM
thyroid gland: 52 nTPM
tongue: 39 nTPM
bone marrow: 33 nTPM
adipose tissue: 31 nTPM

Single-cell type

renal collecting duct principal cells: 1,629 nCPM
cone photoreceptor cells: 1,284 nCPM
syncytiotrophoblasts: 1,154 nCPM
renal connecting tubule cells: 883 nCPM
papillary tip epithelial cells: 851 nCPM
rod photoreceptor cells: 779 nCPM

Immune cell

neutrophil: 29 nTPM
plasmacytoid DC: 21 nTPM
eosinophil: 18 nTPM
naive B-cell: 15 nTPM
memory B-cell: 12 nTPM
memory CD4 T-cell: 12 nTPM

Brain region

choroid plexus: 143 nTPM
medulla oblongata: 70 nTPM
thalamus: 66 nTPM
cerebral cortex: 65 nTPM
pons: 59 nTPM
basal ganglia: 58 nTPM

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): 0.35
gnomAD pLI: 0.71
gnomAD missense Z: -0.41
DepMap mean gene effect: -0.02
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

regulation of gene expression

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of AFF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

MLLT3

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads AFF1 as an antibody target. Whether an autoantibody or antibody against AFF1 could matter depends on whether native AFF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AFF1 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 AFF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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