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Protein

Afadin

Gene

AFDN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 involved in cell-cell adhesion Source: BHF-UCL
  • protein C-terminus binding Source: ProtInc
  • Ras GTPase binding Source: UniProtKB

GO - Biological processi

  • adherens junction organization Source: Reactome
  • cell adhesion Source: ProtInc
  • cell-cell signaling Source: ProtInc
  • establishment of endothelial intestinal barrier Source: UniProtKB
  • positive regulation of GTPase activity Source: UniProtKB
  • signal transduction Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Enzyme and pathway databases

BioCyciZFISH:ENSG00000130396-MONOMER.
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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:7137. AFDN.

Subcellular locationi

GO - Cellular componenti

  • cell-cell adherens junction Source: BHF-UCL
  • cell-cell junction Source: ProtInc
  • cell junction Source: HPA
  • cytoplasm Source: HPA
  • cytosol Source: Reactome
  • nucleoplasm Source: HPA
  • plasma membrane Source: HPA
Complete GO annotation...

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.

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

WithEntry#Exp.IntActNotes
DBN1Q166434EBI-365875,EBI-351394
NECTIN2Q926922EBI-365875,EBI-718419
SRCP129317EBI-365875,EBI-621482

GO - Molecular functioni

  • cadherin binding involved in cell-cell adhesion Source: BHF-UCL
  • protein C-terminus binding Source: ProtInc
  • Ras GTPase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi110447. 71 interactors.
IntActiP55196. 24 interactors.
MINTiMINT-90828.
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

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1T2MNMR-A1003-1094[»]
1XZ9NMR-A1001-1096[»]
2AINNMR-A1003-1094[»]
2EXGNMR-A1001-1096[»]
5A6CX-ray2.90A/B1709-1746[»]
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.

Sequence similaritiesi

Contains 1 dilute domain.PROSITE-ProRule annotation
Contains 1 FHA domain.Curated
Contains 1 PDZ (DHR) domain.PROSITE-ProRule annotation
Contains 2 Ras-associating domains.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

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

Family and domain databases

Gene3Di2.30.42.10. 1 hit.
2.60.200.20. 1 hit.
InterProiIPR002710. Dilute_dom.
IPR000253. FHA_dom.
IPR001478. PDZ.
IPR000159. RA_dom.
IPR008984. SMAD_FHA_domain.
IPR029071. Ubiquitin-rel_dom.
[Graphical view]
PfamiPF01843. DIL. 1 hit.
PF00498. FHA. 1 hit.
PF00595. PDZ. 1 hit.
PF00788. RA. 2 hits.
[Graphical view]
SMARTiSM01132. DIL. 1 hit.
SM00240. FHA. 1 hit.
SM00228. PDZ. 1 hit.
SM00314. RA. 2 hits.
[Graphical view]
SUPFAMiSSF49879. SSF49879. 1 hit.
SSF50156. SSF50156. 1 hit.
SSF54236. SSF54236. 2 hits.
PROSITEiPS51126. DILUTE. 1 hit.
PS50106. PDZ. 1 hit.
PS50200. RA. 2 hits.
[Graphical view]

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, AL049698, AL731868 Genomic DNA. Translation: CAI20900.1.
AL009178, AL049698, AL731868 Genomic DNA. Translation: CAI20902.1.
AL731868, AL009178, AL049698 Genomic DNA. Translation: CAI40824.1.
AL731868, AL009178, AL049698 Genomic DNA. Translation: CAI40826.1.
AL049698, AL009178, AL731868 Genomic DNA. Translation: CAI42812.1.
AL049698, AL009178, AL731868 Genomic DNA. Translation: CAI42814.1.
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

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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, AL049698, AL731868 Genomic DNA. Translation: CAI20900.1.
AL009178, AL049698, AL731868 Genomic DNA. Translation: CAI20902.1.
AL731868, AL009178, AL049698 Genomic DNA. Translation: CAI40824.1.
AL731868, AL009178, AL049698 Genomic DNA. Translation: CAI40826.1.
AL049698, AL009178, AL731868 Genomic DNA. Translation: CAI42812.1.
AL049698, AL009178, AL731868 Genomic DNA. Translation: CAI42814.1.
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1T2MNMR-A1003-1094[»]
1XZ9NMR-A1001-1096[»]
2AINNMR-A1003-1094[»]
2EXGNMR-A1001-1096[»]
5A6CX-ray2.90A/B1709-1746[»]
ProteinModelPortaliP55196.
SMRiP55196.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110447. 71 interactors.
IntActiP55196. 24 interactors.
MINTiMINT-90828.
STRINGi9606.ENSP00000375956.

PTM databases

iPTMnetiP55196.
PhosphoSitePlusiP55196.

Polymorphism and mutation databases

BioMutaiMLLT4.
DMDMi288558835.

Proteomic databases

EPDiP55196.
PaxDbiP55196.
PeptideAtlasiP55196.
PRIDEiP55196.

Protocols and materials databases

DNASUi4301.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi4301.
DisGeNETi4301.
GeneCardsiMLLT4.
HGNCiHGNC:7137. AFDN.
HPAiCAB013496.
HPA030212.
HPA030213.
HPA030214.
HPA030215.
HPA049868.
MIMi159559. gene.
neXtProtiNX_P55196.
OpenTargetsiENSG00000130396.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000130396-MONOMER.
ReactomeiR-HSA-418990. Adherens junctions interactions.
SignaLinkiP55196.
SIGNORiP55196.

Miscellaneous databases

ChiTaRSiMLLT4. human.
EvolutionaryTraceiP55196.
GeneWikiiMLLT4.
GenomeRNAii4301.
PROiP55196.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130396.
CleanExiHS_MLLT4.
ExpressionAtlasiP55196. baseline and differential.
GenevisibleiP55196. HS.

Family and domain databases

Gene3Di2.30.42.10. 1 hit.
2.60.200.20. 1 hit.
InterProiIPR002710. Dilute_dom.
IPR000253. FHA_dom.
IPR001478. PDZ.
IPR000159. RA_dom.
IPR008984. SMAD_FHA_domain.
IPR029071. Ubiquitin-rel_dom.
[Graphical view]
PfamiPF01843. DIL. 1 hit.
PF00498. FHA. 1 hit.
PF00595. PDZ. 1 hit.
PF00788. RA. 2 hits.
[Graphical view]
SMARTiSM01132. DIL. 1 hit.
SM00240. FHA. 1 hit.
SM00228. PDZ. 1 hit.
SM00314. RA. 2 hits.
[Graphical view]
SUPFAMiSSF49879. SSF49879. 1 hit.
SSF50156. SSF50156. 1 hit.
SSF54236. SSF54236. 2 hits.
PROSITEiPS51126. DILUTE. 1 hit.
PS50106. PDZ. 1 hit.
PS50200. RA. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAFAD_HUMAN
AccessioniPrimary (citable) accession number: P55196
Secondary accession number(s): O75087
, O75088, O75089, Q59FP0, Q5TIG6, Q5TIG7, Q9NSN7, Q9NU92
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: February 9, 2010
Last modified: November 2, 2016
This is version 179 of the entry and version 3 of the sequence. [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
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.