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Protein

AF4/FMR2 family member 1

Gene

AFF1

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

Functioni

GO - Molecular functioni

  • DNA-binding transcription factor activity Source: ProtInc

Enzyme and pathway databases

SIGNORiP51825

Names & Taxonomyi

Protein namesi
Recommended name:
AF4/FMR2 family member 1
Alternative name(s):
ALL1-fused gene from chromosome 4 protein
Short name:
Protein AF-4
Protein FEL
Proto-oncogene AF4
Gene namesi
Name:AFF1
Synonyms:AF4, FEL, MLLT2, PBM1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000172493.20
HGNCiHGNC:7135 AFF1
MIMi159557 gene
neXtProtiNX_P51825

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

Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving AFF1 is associated with acute leukemias. Translocation t(4;11)(q21;q23) with KMT2A/MLL1. The result is a rogue activator protein.

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNETi4299
MalaCardsiAFF1
OpenTargetsiENSG00000172493
Orphaneti99860 Precursor B-cell acute lymphoblastic leukemia
PharmGKBiPA30851

Polymorphism and mutation databases

BioMutaiAFF1
DMDMi1703194

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002159101 – 1210AF4/FMR2 family member 1Add BLAST1210

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei199PhosphoserineBy similarity1
Modified residuei206PhosphoserineCombined sources1
Modified residuei212PhosphoserineCombined sources1
Modified residuei220PhosphothreonineCombined sources1
Modified residuei588PhosphoserineCombined sources1
Modified residuei681N6-acetyllysineCombined sources1
Modified residuei697PhosphothreonineCombined sources1
Modified residuei750PhosphoserineCombined sources1
Modified residuei755PhosphothreonineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP51825
MaxQBiP51825
PaxDbiP51825
PeptideAtlasiP51825
PRIDEiP51825
ProteomicsDBi56427

PTM databases

iPTMnetiP51825
PhosphoSitePlusiP51825

Expressioni

Gene expression databases

BgeeiENSG00000172493 Expressed in 249 organ(s), highest expression level in placenta
CleanExiHS_AFF1
ExpressionAtlasiP51825 baseline and differential
GenevisibleiP51825 HS

Organism-specific databases

HPAiHPA069947

Interactioni

Subunit structurei

Component of the super elongation complex (SEC), at least composed of EAF1, EAF2, CDK9, MLLT3/AF9, AFF (AFF1 or AFF4), the P-TEFb complex and ELL (ELL, ELL2 or ELL3).2 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi110445, 43 interactors
CORUMiP51825
DIPiDIP-56407N
IntActiP51825, 24 interactors
MINTiP51825
STRINGi9606.ENSP00000378578

Structurei

Secondary structure

11210
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP51825
SMRiP51825
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi483 – 492Poly-Ser10
Compositional biasi835 – 843Poly-Ser9
Compositional biasi866 – 869Poly-Pro4
Compositional biasi871 – 874Poly-Ser4

Sequence similaritiesi

Belongs to the AF4 family.Curated

Phylogenomic databases

eggNOGiENOG410IGJB Eukaryota
ENOG410XRXU LUCA
GeneTreeiENSGT00530000063217
HOGENOMiHOG000246991
HOVERGENiHBG004189
InParanoidiP51825
KOiK15184
OMAiQGTSMLE
OrthoDBiEOG091G0KKW
PhylomeDBiP51825
TreeFamiTF326216

Family and domain databases

InterProiView protein in InterPro
IPR007797 TF_AF4/FMR2
PANTHERiPTHR10528 PTHR10528, 1 hit
PfamiView protein in Pfam
PF05110 AF-4, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P51825-1) [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
MAAQSSLYND DRNLLRIREK ERRNQEAHQE KEAFPEKIPL FGEPYKTAKG
60 70 80 90 100
DELSSRIQNM LGNYEEVKEF LSTKSHTHRL DASENRLGKP KYPLIPDKGS
110 120 130 140 150
SIPSSSFHTS VHHQSIHTPA SGPLSVGNIS HNPKMAQPRT EPMPSLHAKS
160 170 180 190 200
CGPPDSQHLT QDRLGQEGFG SSHHKKGDRR ADGDHCASVT DSAPERELSP
210 220 230 240 250
LISLPSPVPP LSPIHSNQQT LPRTQGSSKV HGSSNNSKGY CPAKSPKDLA
260 270 280 290 300
VKVHDKETPQ DSLVAPAQPP SQTFPPPSLP SKSVAMQQKP TAYVRPMDGQ
310 320 330 340 350
DQAPSESPEL KPLPEDYRQQ TFEKTDLKVP AKAKLTKLKM PSQSVEQTYS
360 370 380 390 400
NEVHCVEEIL KEMTHSWPPP LTAIHTPSTA EPSKFPFPTK DSQHVSSVTQ
410 420 430 440 450
NQKQYDTSSK THSNSQQGTS SMLEDDLQLS DSEDSDSEQT PEKPPSSSAP
460 470 480 490 500
PSAPQSLPEP VASAHSSSAE SESTSDSDSS SDSESESSSS DSEENEPLET
510 520 530 540 550
PAPEPEPPTT NKWQLDNWLT KVSQPAAPPE GPRSTEPPRR HPESKGSSDS
560 570 580 590 600
ATSQEHSESK DPPPKSSSKA PRAPPEAPHP GKRSCQKSPA QQEPPQRQTV
610 620 630 640 650
GTKQPKKPVK ASARAGSRTS LQGEREPGLL PYGSRDQTSK DKPKVKTKGR
660 670 680 690 700
PRAAASNEPK PAVPPSSEKK KHKSSLPAPS KALSGPEPAK DNVEDRTPEH
710 720 730 740 750
FALVPLTESQ GPPHSGSGSR TSGCRQAVVV QEDSRKDRLP LPLRDTKLLS
760 770 780 790 800
PLRDTPPPQS LMVKITLDLL SRIPQPPGKG SRQRKAEDKQ PPAGKKHSSE
810 820 830 840 850
KRSSDSSSKL AKKRKGEAER DCDNKKIRLE KEIKSQSSSS SSSHKESSKT
860 870 880 890 900
KPSRPSSQSS KKEMLPPPPV SSSSQKPAKP ALKRSRREAD TCGQDPPKSA
910 920 930 940 950
SSTKSNHKDS SIPKQRRVEG KGSRSSSEHK GSSGDTANPF PVPSLPNGNS
960 970 980 990 1000
KPGKPQVKFD KQQADLHMRE AKKMKQKAEL MTDRVGKAFK YLEAVLSFIE
1010 1020 1030 1040 1050
CGIATESESQ SSKSAYSVYS ETVDLIKFIM SLKSFSDATA PTQEKIFAVL
1060 1070 1080 1090 1100
CMRCQSILNM AMFRCKKDIA IKYSRTLNKH FESSSKVAQA PSPCIASTGT
1110 1120 1130 1140 1150
PSPLSPMPSP ASSVGSQSSA GSVGSSGVAA TISTPVTIQN MTSSYVTITS
1160 1170 1180 1190 1200
HVLTAFDLWE QAEALTRKNK EFFARLSTNV CTLALNSSLV DLVHYTRQGF
1210
QQLQELTKTP
Length:1,210
Mass (Da):131,422
Last modified:October 1, 1996 - v1
Checksum:iF0E334DF8FC2FF04
GO
Isoform 2 (identifier: P51825-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-5: MAAQS → MAFTERVNSSGN
     1096-1096: A → AR

Note: No experimental confirmation available.
Show »
Length:1,218
Mass (Da):132,384
Checksum:i8C9DCE41FF2EA841
GO
Isoform 3 (identifier: P51825-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1096-1096: A → AR

Show »
Length:1,211
Mass (Da):131,578
Checksum:iFD08BE7A2BE38BFC
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7ETI4E7ETI4_HUMAN
AF4/FMR2 family member 1
AFF1
406Annotation score:
D6RAU0D6RAU0_HUMAN
AF4/FMR2 family member 1
AFF1
137Annotation score:
F5GXF9F5GXF9_HUMAN
AF4/FMR2 family member 1
AFF1
1,205Annotation score:
H0Y9S4H0Y9S4_HUMAN
AF4/FMR2 family member 1
AFF1
194Annotation score:
E7EMC5E7EMC5_HUMAN
AF4/FMR2 family member 1
AFF1
417Annotation score:
D6RIZ5D6RIZ5_HUMAN
AF4/FMR2 family member 1
AFF1
52Annotation score:

Sequence cautioni

The sequence AAA36642 differs from that shown. Reason: Frameshift at positions 897, 905 and 1178.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti46K → R in AAA36642 (PubMed:8443374).Curated1
Sequence conflicti624E → G in AAA36642 (PubMed:8443374).Curated1
Sequence conflicti762M → V in BAG62103 (PubMed:14702039).Curated1
Sequence conflicti820R → G in BAG62103 (PubMed:14702039).Curated1
Sequence conflicti899 – 905SASSTKS → VPAVPRV in AAA36642 (PubMed:8443374).Curated7
Sequence conflicti928 – 929EH → AD in AAA36642 (PubMed:8443374).Curated2
Sequence conflicti999I → N in AAA36642 (PubMed:8443374).Curated1
Sequence conflicti1140N → I in AAA36642 (PubMed:8443374).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_020370209P → A. Corresponds to variant dbSNP:rs3733378Ensembl.1
Natural variantiVAR_0361301204Q → K in a breast cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0460951 – 5MAAQS → MAFTERVNSSGN in isoform 2. 1 Publication5
Alternative sequenceiVSP_0460961096A → AR in isoform 2 and isoform 3. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L13773 mRNA Translation: AAA58360.1
L25050 mRNA Translation: AAA36642.1 Frameshift.
AK300364 mRNA Translation: BAG62103.1
AC092658 Genomic DNA No translation available.
AC093779 Genomic DNA No translation available.
AC093827 Genomic DNA No translation available.
CCDSiCCDS3616.1 [P51825-1]
CCDS54775.1 [P51825-2]
PIRiA58198
I39410
RefSeqiNP_001160165.1, NM_001166693.2 [P51825-2]
NP_001300888.1, NM_001313959.1 [P51825-3]
NP_001300889.1, NM_001313960.1
NP_005926.1, NM_005935.3 [P51825-1]
XP_005263064.1, XM_005263007.3 [P51825-2]
XP_011530275.1, XM_011531973.2 [P51825-2]
UniGeneiHs.480190

Genome annotation databases

EnsembliENST00000307808; ENSP00000305689; ENSG00000172493 [P51825-1]
ENST00000395146; ENSP00000378578; ENSG00000172493 [P51825-2]
GeneIDi4299
KEGGihsa:4299
UCSCiuc003hqj.5 human [P51825-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L13773 mRNA Translation: AAA58360.1
L25050 mRNA Translation: AAA36642.1 Frameshift.
AK300364 mRNA Translation: BAG62103.1
AC092658 Genomic DNA No translation available.
AC093779 Genomic DNA No translation available.
AC093827 Genomic DNA No translation available.
CCDSiCCDS3616.1 [P51825-1]
CCDS54775.1 [P51825-2]
PIRiA58198
I39410
RefSeqiNP_001160165.1, NM_001166693.2 [P51825-2]
NP_001300888.1, NM_001313959.1 [P51825-3]
NP_001300889.1, NM_001313960.1
NP_005926.1, NM_005935.3 [P51825-1]
XP_005263064.1, XM_005263007.3 [P51825-2]
XP_011530275.1, XM_011531973.2 [P51825-2]
UniGeneiHs.480190

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2LM0NMR-A738-779[»]
ProteinModelPortaliP51825
SMRiP51825
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110445, 43 interactors
CORUMiP51825
DIPiDIP-56407N
IntActiP51825, 24 interactors
MINTiP51825
STRINGi9606.ENSP00000378578

PTM databases

iPTMnetiP51825
PhosphoSitePlusiP51825

Polymorphism and mutation databases

BioMutaiAFF1
DMDMi1703194

Proteomic databases

EPDiP51825
MaxQBiP51825
PaxDbiP51825
PeptideAtlasiP51825
PRIDEiP51825
ProteomicsDBi56427

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000307808; ENSP00000305689; ENSG00000172493 [P51825-1]
ENST00000395146; ENSP00000378578; ENSG00000172493 [P51825-2]
GeneIDi4299
KEGGihsa:4299
UCSCiuc003hqj.5 human [P51825-1]

Organism-specific databases

CTDi4299
DisGeNETi4299
EuPathDBiHostDB:ENSG00000172493.20
GeneCardsiAFF1
HGNCiHGNC:7135 AFF1
HPAiHPA069947
MalaCardsiAFF1
MIMi159557 gene
neXtProtiNX_P51825
OpenTargetsiENSG00000172493
Orphaneti99860 Precursor B-cell acute lymphoblastic leukemia
PharmGKBiPA30851
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGJB Eukaryota
ENOG410XRXU LUCA
GeneTreeiENSGT00530000063217
HOGENOMiHOG000246991
HOVERGENiHBG004189
InParanoidiP51825
KOiK15184
OMAiQGTSMLE
OrthoDBiEOG091G0KKW
PhylomeDBiP51825
TreeFamiTF326216

Enzyme and pathway databases

SIGNORiP51825

Miscellaneous databases

ChiTaRSiAFF1 human
GeneWikiiAFF1
GenomeRNAii4299
PROiPR:P51825
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000172493 Expressed in 249 organ(s), highest expression level in placenta
CleanExiHS_AFF1
ExpressionAtlasiP51825 baseline and differential
GenevisibleiP51825 HS

Family and domain databases

InterProiView protein in InterPro
IPR007797 TF_AF4/FMR2
PANTHERiPTHR10528 PTHR10528, 1 hit
PfamiView protein in Pfam
PF05110 AF-4, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiAFF1_HUMAN
AccessioniPrimary (citable) accession number: P51825
Secondary accession number(s): B4DTU1, E9PBM3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: September 12, 2018
This is version 156 of the entry and version 1 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 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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