Seroatlas · Human Serome Atlas

AFDN

Afadin

Also known as: AF-6, AF6, AFAD_HUMAN, MLLT4

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

Protein identityUniProt · HPA

UniProt accession: P55196
Gene: AFDN
Ensembl: ENSG00000130396
Chromosome: 6
Canonical length: 1824 aa
Protein class: Cancer-related genes, Disease related genes, Plasma proteins, Predicted intracellular proteins, RAS pathway related proteins
Subcellular location: Nucleoplasm,Plasma membrane,Cell Junctions
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011]

Canonical amino-acid sequenceUniProt

1824 residues, UniProt reviewed canonical sequence.

>P55196|AFDN
     1  MSAGGRDEER RKLADIIHHW NANRLDLFEI SQPTEDLEFH GVMRFYFQDK AAGNFATKCI
    61  RVSSTATTQD VIETLAEKFR PDMRMLSSPK YSLYEVHVSG ERRLDIDEKP LVVQLNWNKD
   121  DREGRFVLKN ENDAIPPKKA QSNGPEKQEK EGVIQNFKRT LSKKEKKEKK KREKEALRQA
   181  SDKDDRPFQG EDVENSRLAA EVYKDMPETS FTRTISNPEV VMKRRRQQKL EKRMQEFRSS
   241  DGRPDSGGTL RIYADSLKPN IPYKTILLST TDPADFAVAE ALEKYGLEKE NPKDYCIARV
   301  MLPPGAQHSD EKGAKEIILD DDECPLQIFR EWPSDKGILV FQLKRRPPDH IPKKTKKHLE
   361  GKTPKGKERA DGSGYGSTLP PEKLPYLVEL SPGRRNHFAY YNYHTYEDGS DSRDKPKLYR
   421  LQLSVTEVGT EKLDDNSIQL FGPGIQPHHC DLTNMDGVVT VTPRSMDAET YVEGQRISET
   481  TMLQSGMKVQ FGASHVFKFV DPSQDHALAK RSVDGGLMVK GPRHKPGIVQ ETTFDLGGDI
   541  HSGTALPTSK STTRLDSDRV SSASSTAERG MVKPMIRVEQ QPDYRRQESR TQDASGPELI
   601  LPASIEFRES SEDSFLSAII NYTNSSTVHF KLSPTYVLYM ACRYVLSNQY RPDISPTERT
   661  HKVIAVVNKM VSMMEGVIQK QKNIAGALAF WMANASELLN FIKQDRDLSR ITLDAQDVLA
   721  HLVQMAFKYL VHCLQSELNN YMPAFLDDPE ENSLQRPKID DVLHTLTGAM SLLRRCRVNA
   781  ALTIQLFSQL FHFINMWLFN RLVTDPDSGL CSHYWGAIIR QQLGHIEAWA EKQGLELAAD
   841  CHLSRIVQAT TLLTMDKYAP DDIPNINSTC FKLNSLQLQA LLQNYHCAPD EPFIPTDLIE
   901  NVVTVAENTA DELARSDGRE VQLEEDPDLQ LPFLLPEDGY SCDVVRNIPN GLQEFLDPLC
   961  QRGFCRLIPH TRSPGTWTIY FEGADYESHL LRENTELAQP LRKEPEIITV TLKKQNGMGL
  1021  SIVAAKGAGQ DKLGIYVKSV VKGGAADVDG RLAAGDQLLS VDGRSLVGLS QERAAELMTR
  1081  TSSVVTLEVA KQGAIYHGLA TLLNQPSPMM QRISDRRGSG KPRPKSEGFE LYNNSTQNGS
  1141  PESPQLPWAE YSEPKKLPGD DRLMKNRADH RSSPNVANQP PSPGGKSAYA SGTTAKITSV
  1201  STGNLCTEEQ TPPPRPEAYP IPTQTYTREY FTFPASKSQD RMAPPQNQWP NYEEKPHMHT
  1261  DSNHSSIAIQ RVTRSQEELR EDKAYQLERH RIEAAMDRKS DSDMWINQSS SLDSSTSSQE
  1321  HLNHSSKSVT PASTLTKSGP GRWKTPAAIP ATPVAVSQPI RTDLPPPPPP PPVHYAGDFD
  1381  GMSMDLPLPP PPSANQIGLP SAQVAAAERR KREEHQRWYE KEKARLEEER ERKRREQERK
  1441  LGQMRTQSLN PAPFSPLTAQ QMKPEKPSTL QRPQETVIRE LQPQQQPRTI ERRDLQYITV
  1501  SKEELSSGDS LSPDPWKRDA KEKLEKQQQM HIVDMLSKEI QELQSKPDRS AEESDRLRKL
  1561  MLEWQFQKRL QESKQKDEDD EEEEDDDVDT MLIMQRLEAE RRARLQDEER RRQQQLEEMR
  1621  KREAEDRARQ EEERRRQEEE RTKRDAEEKR RQEEGYYSRL EAERRRQHDE AARRLLEPEA
  1681  PGLCRPPLPR DYEPPSPSPA PGAPPPPPQR NASYLKTQVL SPDSLFTAKF VAYNEEEEEE
  1741  DCSLAGPNSY PGSTGAAVGA HDACRDAKEK RSKSQDADSP GSSGAPENLT FKERQRLFSQ
  1801  GQDVSNKVKA SRKLTELENE LNTK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AFDN 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: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.46
Highest tissue expression: 75 nTPM

Expression across tissuesHPA

Tissue

esophagus: 75 nTPM
salivary gland: 51 nTPM
small intestine: 49 nTPM
liver: 48 nTPM
pancreas: 44 nTPM
heart muscle: 44 nTPM

Single-cell type

esophageal apical cells: 1,778 nCPM
endometrial glandular cells: 1,111 nCPM
endometrial ciliated cells: 840 nCPM
endometrial luminal cells: 651 nCPM
ocular epithelial cells: 606 nCPM
alveolar cells type 1: 524 nCPM

Immune cell

memory B-cell: 1 nTPM
neutrophil: 0.8 nTPM
naive B-cell: 0.6 nTPM
memory CD4 T-cell: 0.4 nTPM
gdT-cell: 0.3 nTPM
intermediate monocyte: 0.2 nTPM

Brain region

white matter: 110 nTPM
basal ganglia: 109 nTPM
choroid plexus: 109 nTPM
medulla oblongata: 108 nTPM
thalamus: 107 nTPM
hypothalamus: 105 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): 0.21
gnomAD pLI: 1
DepMap mean gene effect: 0.02
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

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

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

AFDN is annotated at the cell surface, where native AFDN is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

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

Loading the interactive Seroatlas protein explorer...