Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - P55196 (AFAD_HUMAN)

(max 400 entries)x

Your basket is currently empty. i

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Afadin

Gene

AFDN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Belongs to an adhesion system, probably together with the E-cadherin-catenin system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs). Nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton.

GO - Molecular functioni

  • cadherin binding Source: BHF-UCL
  • protein C-terminus binding Source: ProtInc
  • Ras GTPase binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • adherens junction organization Source: GO_Central
  • cell adhesion Source: ProtInc
  • cell-cell signaling Source: ProtInc
  • establishment of endothelial intestinal barrier Source: UniProtKB
  • positive regulation of GTPase activity Source: UniProtKB
  • regulation of protein localization Source: GO_Central
  • signal transduction Source: ProtInc
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processCell adhesion

Enzyme and pathway databases

ReactomeiR-HSA-418990 Adherens junctions interactions
SignaLinkiP55196
SIGNORiP55196

Names & Taxonomyi

Protein namesi
Recommended name:
Afadin
Alternative name(s):
ALL1-fused gene from chromosome 6 protein
Short name:
Protein AF-6
Afadin adherens junction formation factorImported
Gene namesi
Name:AFDNImported
Synonyms:AF6, MLLT4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000130396.20
HGNCiHGNC:7137 AFDN
MIMi159559 gene
neXtProtiNX_P55196

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving AFDN is associated with acute leukemias. Translocation t(6;11)(q27;q23) with KMT2A/MLL1. The result is a rogue activator protein.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei26Breakpoint for translocation to form KMT2A/MLL1-AFDN1

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNETi4301
OpenTargetsiENSG00000130396

Polymorphism and mutation databases

BioMutaiMLLT4
DMDMi288558835

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002159181 – 1824AfadinAdd BLAST1824

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei216PhosphoserineCombined sources1
Modified residuei246PhosphoserineCombined sources1
Modified residuei256PhosphoserineCombined sources1
Modified residuei391PhosphoserineBy similarity1
Modified residuei424PhosphoserineCombined sources1
Modified residuei512PhosphoserineCombined sources1
Modified residuei557PhosphoserineCombined sources1
Modified residuei562PhosphoserineCombined sources1
Modified residuei589PhosphoserineCombined sources1
Modified residuei655PhosphoserineCombined sources1
Modified residuei1083PhosphoserineCombined sources1
Modified residuei1107PhosphoserineCombined sources1
Modified residuei1126PhosphoserineBy similarity1
Modified residuei1140PhosphoserineBy similarity1
Modified residuei1143PhosphoserineCombined sources1
Modified residuei1172PhosphoserineBy similarity1
Modified residuei1173PhosphoserineCombined sources1
Modified residuei1182PhosphoserineCombined sources1
Modified residuei1199PhosphoserineCombined sources1
Modified residuei1211PhosphothreonineCombined sources1
Modified residuei1232PhosphothreonineCombined sources1
Modified residuei1238PhosphoserineCombined sources1
Modified residuei1275PhosphoserineCombined sources1
Modified residuei1328PhosphoserineCombined sources1
Modified residuei1330PhosphothreonineCombined sources1
Modified residuei1501PhosphoserineCombined sources1
Modified residuei1512PhosphoserineCombined sources1
Modified residuei1696PhosphoserineCombined sources1
Modified residuei1721PhosphoserineCombined sources1
Modified residuei1774PhosphoserineBy similarity1
Modified residuei1779PhosphoserineCombined sources1
Modified residuei1799PhosphoserineCombined sources1
Modified residuei1807N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP55196
PaxDbiP55196
PeptideAtlasiP55196
PRIDEiP55196
ProteomicsDBi56796
56797 [P55196-1]
56798 [P55196-2]
56799 [P55196-3]
56800 [P55196-5]
56801 [P55196-6]

PTM databases

iPTMnetiP55196
PhosphoSitePlusiP55196

Expressioni

Gene expression databases

BgeeiENSG00000130396
CleanExiHS_MLLT4
ExpressionAtlasiP55196 baseline and differential
GenevisibleiP55196 HS

Organism-specific databases

HPAiCAB013496
HPA030212
HPA030213
HPA030214
HPA030215
HPA049868

Interactioni

Subunit structurei

Homodimer. Interacts with F-actin, nectin and NECTIN3. Essential for the association of nectin and E-cadherin. Isoform 1/s-afadin does not interact with F-actin. Interacts with ZO-1 and occludin, but probably in an indirect manner. Interacts with RIT1 and RIT2 (By similarity). Interacts with NRXN1 and BCR.By similarity2 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • cadherin binding Source: BHF-UCL
  • protein C-terminus binding Source: ProtInc
  • Ras GTPase binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi110447, 104 interactors
CORUMiP55196
ELMiP55196
IntActiP55196, 62 interactors
MINTiP55196
STRINGi9606.ENSP00000375956

Structurei

Secondary structure

11824
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi1006 – 1013Combined sources8
Beta strandi1015 – 1017Combined sources3
Beta strandi1020 – 1025Combined sources6
Beta strandi1028 – 1031Combined sources4
Beta strandi1034 – 1040Combined sources7
Beta strandi1042 – 1044Combined sources3
Helixi1045 – 1049Combined sources5
Beta strandi1054 – 1061Combined sources8
Helixi1071 – 1079Combined sources9
Beta strandi1083 – 1091Combined sources9
Turni1722 – 1724Combined sources3
Turni1735 – 1738Combined sources4

3D structure databases

ProteinModelPortaliP55196
SMRiP55196
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP55196

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini39 – 133Ras-associating 1PROSITE-ProRule annotationAdd BLAST95
Domaini246 – 348Ras-associating 2PROSITE-ProRule annotationAdd BLAST103
Domaini426 – 492FHAAdd BLAST67
Domaini668 – 908DilutePROSITE-ProRule annotationAdd BLAST241
Domaini1007 – 1093PDZPROSITE-ProRule annotationAdd BLAST87

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili146 – 185Sequence analysisAdd BLAST40
Coiled coili1408 – 1448Sequence analysisAdd BLAST41
Coiled coili1523 – 1667Sequence analysisAdd BLAST145

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi163 – 175Glu/Lys-richAdd BLAST13
Compositional biasi1346 – 1392Pro-richAdd BLAST47
Compositional biasi1578 – 1588Asp/Glu-rich (acidic)Add BLAST11
Compositional biasi1678 – 1708Pro-richAdd BLAST31

Domaini

The PDZ/DHR domain interacts with the C-terminus of nectin and the Pro-rich C-terminal domain interacts with F-actin.

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

eggNOGiKOG1892 Eukaryota
ENOG410XR0S LUCA
GeneTreeiENSGT00390000010033
HOVERGENiHBG050463
InParanoidiP55196
KOiK05702
OMAiAYYNYHT
OrthoDBiEOG091G00CA
PhylomeDBiP55196
TreeFamiTF350731

Family and domain databases

CDDicd00060 FHA, 1 hit
cd15471 Myo5p-like_CBD_afadin, 1 hit
InterProiView protein in InterPro
IPR028842 Afadin
IPR037977 CBD_Afadin
IPR002710 Dilute_dom
IPR000253 FHA_dom
IPR001478 PDZ
IPR036034 PDZ_sf
IPR000159 RA_dom
IPR008984 SMAD_FHA_dom_sf
IPR029071 Ubiquitin-like_domsf
PANTHERiPTHR10398 PTHR10398, 1 hit
PfamiView protein in Pfam
PF01843 DIL, 1 hit
PF00498 FHA, 1 hit
PF00595 PDZ, 1 hit
PF00788 RA, 2 hits
SMARTiView protein in SMART
SM01132 DIL, 1 hit
SM00240 FHA, 1 hit
SM00228 PDZ, 1 hit
SM00314 RA, 2 hits
SUPFAMiSSF49879 SSF49879, 1 hit
SSF50156 SSF50156, 1 hit
SSF54236 SSF54236, 2 hits
PROSITEiView protein in PROSITE
PS51126 DILUTE, 1 hit
PS50106 PDZ, 1 hit
PS50200 RA, 2 hits

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 4 (identifier: P55196-4) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSAGGRDEER RKLADIIHHW NANRLDLFEI SQPTEDLEFH GVMRFYFQDK 
        60         70         80         90        100
AAGNFATKCI RVSSTATTQD VIETLAEKFR PDMRMLSSPK YSLYEVHVSG 
       110        120        130        140        150
ERRLDIDEKP LVVQLNWNKD DREGRFVLKN ENDAIPPKKA QSNGPEKQEK 
       160        170        180        190        200
EGVIQNFKRT LSKKEKKEKK KREKEALRQA SDKDDRPFQG EDVENSRLAA 
       210        220        230        240        250
EVYKDMPETS FTRTISNPEV VMKRRRQQKL EKRMQEFRSS DGRPDSGGTL 
       260        270        280        290        300
RIYADSLKPN IPYKTILLST TDPADFAVAE ALEKYGLEKE NPKDYCIARV 
       310        320        330        340        350
MLPPGAQHSD EKGAKEIILD DDECPLQIFR EWPSDKGILV FQLKRRPPDH 
       360        370        380        390        400
IPKKTKKHLE GKTPKGKERA DGSGYGSTLP PEKLPYLVEL SPGRRNHFAY 
       410        420        430        440        450
YNYHTYEDGS DSRDKPKLYR LQLSVTEVGT EKLDDNSIQL FGPGIQPHHC 
       460        470        480        490        500
DLTNMDGVVT VTPRSMDAET YVEGQRISET TMLQSGMKVQ FGASHVFKFV 
       510        520        530        540        550
DPSQDHALAK RSVDGGLMVK GPRHKPGIVQ ETTFDLGGDI HSGTALPTSK 
       560        570        580        590        600
STTRLDSDRV SSASSTAERG MVKPMIRVEQ QPDYRRQESR TQDASGPELI 
       610        620        630        640        650
LPASIEFRES SEDSFLSAII NYTNSSTVHF KLSPTYVLYM ACRYVLSNQY 
       660        670        680        690        700
RPDISPTERT HKVIAVVNKM VSMMEGVIQK QKNIAGALAF WMANASELLN 
       710        720        730        740        750
FIKQDRDLSR ITLDAQDVLA HLVQMAFKYL VHCLQSELNN YMPAFLDDPE 
       760        770        780        790        800
ENSLQRPKID DVLHTLTGAM SLLRRCRVNA ALTIQLFSQL FHFINMWLFN 
       810        820        830        840        850
RLVTDPDSGL CSHYWGAIIR QQLGHIEAWA EKQGLELAAD CHLSRIVQAT 
       860        870        880        890        900
TLLTMDKYAP DDIPNINSTC FKLNSLQLQA LLQNYHCAPD EPFIPTDLIE 
       910        920        930        940        950
NVVTVAENTA DELARSDGRE VQLEEDPDLQ LPFLLPEDGY SCDVVRNIPN 
       960        970        980        990       1000
GLQEFLDPLC QRGFCRLIPH TRSPGTWTIY FEGADYESHL LRENTELAQP 
      1010       1020       1030       1040       1050
LRKEPEIITV TLKKQNGMGL SIVAAKGAGQ DKLGIYVKSV VKGGAADVDG 
      1060       1070       1080       1090       1100
RLAAGDQLLS VDGRSLVGLS QERAAELMTR TSSVVTLEVA KQGAIYHGLA 
      1110       1120       1130       1140       1150
TLLNQPSPMM QRISDRRGSG KPRPKSEGFE LYNNSTQNGS PESPQLPWAE 
      1160       1170       1180       1190       1200
YSEPKKLPGD DRLMKNRADH RSSPNVANQP PSPGGKSAYA SGTTAKITSV 
      1210       1220       1230       1240       1250
STGNLCTEEQ TPPPRPEAYP IPTQTYTREY FTFPASKSQD RMAPPQNQWP 
      1260       1270       1280       1290       1300
NYEEKPHMHT DSNHSSIAIQ RVTRSQEELR EDKAYQLERH RIEAAMDRKS 
      1310       1320       1330       1340       1350
DSDMWINQSS SLDSSTSSQE HLNHSSKSVT PASTLTKSGP GRWKTPAAIP 
      1360       1370       1380       1390       1400
ATPVAVSQPI RTDLPPPPPP PPVHYAGDFD GMSMDLPLPP PPSANQIGLP 
      1410       1420       1430       1440       1450
SAQVAAAERR KREEHQRWYE KEKARLEEER ERKRREQERK LGQMRTQSLN 
      1460       1470       1480       1490       1500
PAPFSPLTAQ QMKPEKPSTL QRPQETVIRE LQPQQQPRTI ERRDLQYITV 
      1510       1520       1530       1540       1550
SKEELSSGDS LSPDPWKRDA KEKLEKQQQM HIVDMLSKEI QELQSKPDRS 
      1560       1570       1580       1590       1600
AEESDRLRKL MLEWQFQKRL QESKQKDEDD EEEEDDDVDT MLIMQRLEAE 
      1610       1620       1630       1640       1650
RRARLQDEER RRQQQLEEMR KREAEDRARQ EEERRRQEEE RTKRDAEEKR 
      1660       1670       1680       1690       1700
RQEEGYYSRL EAERRRQHDE AARRLLEPEA PGLCRPPLPR DYEPPSPSPA 
      1710       1720       1730       1740       1750
PGAPPPPPQR NASYLKTQVL SPDSLFTAKF VAYNEEEEEE DCSLAGPNSY 
      1760       1770       1780       1790       1800
PGSTGAAVGA HDACRDAKEK RSKSQDADSP GSSGAPENLT FKERQRLFSQ 
      1810       1820 
GQDVSNKVKA SRKLTELENE LNTK
Length:1,824
Mass (Da):206,804
Last modified:February 9, 2010 - v3
Checksum:i51486232F183A3BA
GO
Isoform 1 (identifier: P55196-2) [UniParc]FASTAAdd to basket
Also known as: s-afadin

The sequence of this isoform differs from the canonical sequence as follows:
     139-139: Missing.
     393-407: Missing.
     1605-1628: LQDEERRRQQQLEEMRKREAEDRA → VKGGVLWLCPSVVPILASACFPWG
     1629-1824: Missing.

Note: May be due to intron retention.Curated
Show »
Length:1,612
Mass (Da):182,000
Checksum:i202D7BEC1E825AB6
GO
Isoform 2 (identifier: P55196-1) [UniParc]FASTAAdd to basket
Also known as: l-afadin

The sequence of this isoform differs from the canonical sequence as follows:
     139-139: Missing.
     393-407: Missing.
     1048-1048: Missing.
     1747-1824: PNSYPGSTGA...TELENELNTK → QDKYSSTRKS...KRVTNQLSLS

Note: May be due to intron retention.
Show »
Length:1,816
Mass (Da):205,605
Checksum:iEB1FE7F04879CE8F
GO
Isoform 3 (identifier: P55196-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     139-139: Missing.
     393-407: Missing.
     1048-1048: Missing.
     1683-1746: Missing.

Note: No experimental confirmation available.
Show »
Length:1,743
Mass (Da):197,653
Checksum:iECCDE46AD8C401B9
GO
Isoform 6 (identifier: P55196-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1605-1606: Missing.
     1650-1653: RRQE → VMVL
     1654-1824: Missing.

Show »
Length:1,651
Mass (Da):187,672
Checksum:i6F55A481FC0DB6B3
GO
Isoform 5 (identifier: P55196-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     139-139: Missing.
     1604-1604: R → RTAMPAISVLDL

Note: No experimental confirmation available.
Show »
Length:1,834
Mass (Da):207,788
Checksum:i3D57FDBD6A521DFD
GO

Sequence cautioni

The sequence CAB82312 differs from that shown. Reason: Frameshift at positions 1509, 1512 and 1701.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti374G → V in AAC50059 (PubMed:8242616).Curated1
Sequence conflicti1425R → P in AAC50059 (PubMed:8242616).Curated1
Isoform 1 (identifier: P55196-2)
Sequence conflicti1031 – 1032DV → D in AAC50059 (PubMed:8242616).Curated2
Sequence conflicti1031 – 1032DV → D in BAA32485 (PubMed:9679199).Curated2

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_038707139Missing in isoform 1, isoform 2, isoform 3 and isoform 5. 2 Publications1
Alternative sequenceiVSP_038708393 – 407Missing in isoform 1, isoform 2 and isoform 3. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_0387091048Missing in isoform 2 and isoform 3. Curated1
Alternative sequenceiVSP_0192571604R → RTAMPAISVLDL in isoform 5. 1 Publication1
Alternative sequenceiVSP_0002171605 – 1628LQDEE…AEDRA → VKGGVLWLCPSVVPILASAC FPWG in isoform 1. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_0411971605 – 1606Missing in isoform 6. 1 Publication2
Alternative sequenceiVSP_0002181629 – 1824Missing in isoform 1. 1 PublicationAdd BLAST196
Alternative sequenceiVSP_0411981650 – 1653RRQE → VMVL in isoform 6. 1 Publication4
Alternative sequenceiVSP_0411991654 – 1824Missing in isoform 6. 1 PublicationAdd BLAST171
Alternative sequenceiVSP_0387101683 – 1746Missing in isoform 3. CuratedAdd BLAST64
Alternative sequenceiVSP_0387111747 – 1824PNSYP…ELNTK → QDKYSSTRKSHGDLLPAPLK PRPPPCQPRPASDGVFLSNS FQPPSAKANSTAHKKGQPLP PPKKSSSYHPSHCKGRGKRV TNQLSLS in isoform 2. CuratedAdd BLAST78

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U02478 mRNA Translation: AAC50059.1
AB011399 Genomic DNA Translation: BAA32483.1
AB011399 Genomic DNA Translation: BAA32484.1
AB011399 Genomic DNA Translation: BAA32485.1
AL009178 Genomic DNA No translation available.
AL049698 Genomic DNA No translation available.
AL731868 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW47482.1
AB209420 mRNA Translation: BAD92657.1
AL161973 mRNA Translation: CAB82312.1 Frameshift.
CCDSiCCDS47517.1 [P55196-6]
CCDS75553.1 [P55196-3]
PIRiT47137
RefSeqiNP_001035089.1, NM_001040000.2 [P55196-6]
NP_001193937.1, NM_001207008.1 [P55196-3]
NP_001278893.1, NM_001291964.1
XP_005267053.1, XM_005266996.3 [P55196-4]
UniGeneiHs.614974
Hs.728849
Hs.741785

Genome annotation databases

EnsembliENST00000392108; ENSP00000375956; ENSG00000130396 [P55196-6]
ENST00000392112; ENSP00000375960; ENSG00000130396 [P55196-3]
ENST00000400822; ENSP00000383623; ENSG00000130396 [P55196-5]
ENST00000447894; ENSP00000404595; ENSG00000130396 [P55196-4]
GeneIDi4301
KEGGihsa:4301
UCSCiuc003qwc.3 human [P55196-4]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Similar proteinsi

Entry informationi

Entry nameiAFAD_HUMAN
AccessioniPrimary (citable) accession number: P55196
Secondary accession number(s): O75087
, O75088, O75089, Q59FP0, Q5TIG6, Q5TIG7, Q9NSN7, Q9NU92
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: February 9, 2010
Last modified: July 18, 2018
This is version 194 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health