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Protein

AF4/FMR2 family member 1

Gene

AFF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  • transcription factor activity, sequence-specific DNA binding Source: ProtInc
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000172493-MONOMER.
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

HGNCiHGNC:7135. AFF1.

Subcellular locationi

GO - Cellular componenti

  • transcription elongation factor complex Source: UniProtKB
Complete GO annotation...

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.

PTM databases

iPTMnetiP51825.
PhosphoSitePlusiP51825.

Expressioni

Gene expression databases

BgeeiENSG00000172493.
CleanExiHS_AFF1.
ExpressionAtlasiP51825. baseline and differential.
GenevisibleiP51825. HS.

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

WithEntry#Exp.IntActNotes
tatP046083EBI-2610180,EBI-6164389From a different organism.

Protein-protein interaction databases

BioGridi110445. 39 interactors.
DIPiDIP-56407N.
IntActiP51825. 23 interactors.
MINTiMINT-1198004.
STRINGi9606.ENSP00000378578.

Structurei

Secondary structure

11210
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni768 – 770Combined sources3
Helixi825 – 831Combined sources7
Beta strandi836 – 838Combined sources3
Beta strandi843 – 845Combined sources3
Turni847 – 849Combined sources3
Helixi858 – 867Combined sources10

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2LM0NMR-A738-779[»]
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.
OMAiMSSARWE.
OrthoDBiEOG091G0KKW.
PhylomeDBiP51825.
TreeFamiTF326216.

Family and domain databases

InterProiIPR007797. TF_AF4/FMR2.
[Graphical view]
PANTHERiPTHR10528. PTHR10528. 1 hit.
PfamiPF05110. AF-4. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

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

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 rs3733378dbSNPEnsembl.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

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. 39 interactors.
DIPiDIP-56407N.
IntActiP51825. 23 interactors.
MINTiMINT-1198004.
STRINGi9606.ENSP00000378578.

PTM databases

iPTMnetiP51825.
PhosphoSitePlusiP51825.

Polymorphism and mutation databases

BioMutaiAFF1.
DMDMi1703194.

Proteomic databases

EPDiP51825.
MaxQBiP51825.
PaxDbiP51825.
PeptideAtlasiP51825.
PRIDEiP51825.

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.
GeneCardsiAFF1.
HGNCiHGNC:7135. AFF1.
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.
OMAiMSSARWE.
OrthoDBiEOG091G0KKW.
PhylomeDBiP51825.
TreeFamiTF326216.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000172493-MONOMER.
SIGNORiP51825.

Miscellaneous databases

ChiTaRSiAFF1. human.
GeneWikiiAFF1.
GenomeRNAii4299.
PROiP51825.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000172493.
CleanExiHS_AFF1.
ExpressionAtlasiP51825. baseline and differential.
GenevisibleiP51825. HS.

Family and domain databases

InterProiIPR007797. TF_AF4/FMR2.
[Graphical view]
PANTHERiPTHR10528. PTHR10528. 1 hit.
PfamiPF05110. AF-4. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAFF1_HUMAN
AccessioniPrimary (citable) accession number: P51825
Secondary accession number(s): B4DTU1, E9PBM3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: November 30, 2016
This is version 141 of the entry and version 1 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 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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. 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.