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Protein

AF4/FMR2 family member 4

Gene

Aff4

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF4 acts as a central scaffold that recruits other factors through direct interactions with ELL proteins (ELL, ELL2 or ELL3) and the P-TEFb complex. In case of infection by HIV-1 virus, the SEC complex is recruited by the viral Tat protein to stimulate viral gene expression (By similarity).By similarity

GO - Biological processi

  • regulation of transcription, DNA-templated Source: UniProtKB-KW
  • spermatid development Source: MGI
  • transcription, DNA-templated Source: UniProtKB-KW

Keywordsi

Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-MMU-112382 Formation of RNA Pol II elongation complex
R-MMU-674695 RNA Polymerase II Pre-transcription Events
R-MMU-75955 RNA Polymerase II Transcription Elongation

Names & Taxonomyi

Protein namesi
Recommended name:
AF4/FMR2 family member 4
Gene namesi
Name:Aff4
Synonyms:Alf4
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 11

Organism-specific databases

MGIiMGI:2136171 Aff4

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

Disruption phenotypei

Mice are infertile with azoospermia. Spermatogenesis is arrested at the level of spermiogenesis.1 Publication

Keywords - Diseasei

Proto-oncogene

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002393941 – 1160AF4/FMR2 family member 4Add BLAST1160

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei120PhosphoserineBy similarity1
Modified residuei207PhosphoserineBy similarity1
Modified residuei382PhosphoserineBy similarity1
Modified residuei383PhosphoserineBy similarity1
Modified residuei384PhosphoserineBy similarity1
Modified residuei387PhosphoserineBy similarity1
Modified residuei482PhosphoserineCombined sources1
Modified residuei485PhosphoserineCombined sources1
Modified residuei486PhosphoserineCombined sources1
Modified residuei544PhosphoserineBy similarity1
Cross-linki578Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity
Modified residuei666PhosphoserineBy similarity1
Modified residuei669PhosphothreonineBy similarity1
Modified residuei675PhosphoserineBy similarity1
Modified residuei689PhosphoserineCombined sources1
Modified residuei698PhosphoserineCombined sources1
Modified residuei701PhosphoserineCombined sources1
Modified residuei707PhosphotyrosineBy similarity1
Modified residuei809PhosphoserineCombined sources1
Modified residuei817N6-acetyllysineCombined sources1
Modified residuei831PhosphoserineBy similarity1
Modified residuei1040PhosphoserineCombined sources1
Modified residuei1052PhosphoserineBy similarity1
Modified residuei1055PhosphoserineBy similarity1
Modified residuei1059PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9ESC8
MaxQBiQ9ESC8
PaxDbiQ9ESC8
PRIDEiQ9ESC8

PTM databases

iPTMnetiQ9ESC8
PhosphoSitePlusiQ9ESC8

Expressioni

Tissue specificityi

Highly expressed in testis by Sertoli cells, and at low levels in other tissues.1 Publication

Developmental stagei

Expressed throughout embryogenesis with maximum expression at 10.5 and 12.5 dpc.1 Publication

Gene expression databases

BgeeiENSMUSG00000049470
CleanExiMM_AFF4
ExpressionAtlasiQ9ESC8 baseline and differential
GenevisibleiQ9ESC8 MM

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). Interacts with ELL2; the interaction is direct and leads to stabilize ELL2 and prevent ELL2 ubiquitination and degradation (By similarity). Interacts with ELL3; the interaction is direct.By similarity1 Publication

Protein-protein interaction databases

BioGridi220280, 2 interactors
IntActiQ9ESC8, 3 interactors
MINTiQ9ESC8
STRINGi10090.ENSMUSP00000051479

Structurei

3D structure databases

ProteinModelPortaliQ9ESC8
SMRiQ9ESC8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi102 – 456Ser-richAdd BLAST355
Compositional biasi784 – 896Ser-richAdd BLAST113
Compositional biasi1032 – 1079Ser-richAdd BLAST48

Sequence similaritiesi

Belongs to the AF4 family.Curated

Phylogenomic databases

eggNOGiENOG410IGJB Eukaryota
ENOG410XRXU LUCA
GeneTreeiENSGT00530000063217
HOGENOMiHOG000246991
HOVERGENiHBG004189
InParanoidiQ9ESC8
KOiK15185
OMAiLIKYTMK
OrthoDBiEOG091G0KKW
PhylomeDBiQ9ESC8
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

Sequencei

Sequence statusi: Complete.

Q9ESC8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNREDRNVLR MKERERRNQE IQQGEDAFPP SSPLFAEPYK VTSKEDKLSS
60 70 80 90 100
RIQSMLGNYD EMKDYIGDRS IPKLVAIPKP AVPTTTDEKA NPNFFEQRHG
110 120 130 140 150
GSHQSSKWTP VGPAPSTSQS QKRSSALQSG HSSQRSGAGG SGASSSGQRH
160 170 180 190 200
DRDSYSSSRK KGQHGSEHSK SRSSSPGKPQ AVSSLSSSHS RSHGNDHHSK
210 220 230 240 250
EHQRSKSPRD PDANWDSPSR GPFSSGQHSS QSFPPSLMSK SSSMLQKPTA
260 270 280 290 300
YVRPMDGQES VEPKLSSEHY SSQSHGNSMT ELKPSSKAHL TKLKIPSRPL
310 320 330 340 350
DASVSGDVSC VDEILKEMTH SWPPPLTAIH TPCKTEPSKF PFPTKESQQS
360 370 380 390 400
NFGPGEQKRY STAKTSNGHQ SKSMLKDDLK LSSSEDSDGE QDCDKTMPRS
410 420 430 440 450
TPGSNSEPSH HNSEGADNSR DDSSSHSGSE SSSGSDSESE SSSSDSEANE
460 470 480 490 500
PSQSASPEPE PPPTNKWQLD NWLNKVNPHK VSPASSVDSN IPSSQAYKKE
510 520 530 540 550
GREQGTASNY TDPGGTKETS SATPGRDSKT IQKGSESGRG RQKSPAQSDS
560 570 580 590 600
TTQRRTVGKK QPKKPEKSAA EEPRGGLKIE SETPVDMAAS MPSSRHKAAT
610 620 630 640 650
KGSRKPNIKK ESKSSPRPTA EKKKYKSASK PSQKSREIIE TDTSSSDSDG
660 670 680 690 700
SESLPPSSQT PKYPESNRTP VKPSSVEEED SFFRQRMFSP MEEKELLSPL
710 720 730 740 750
SEPDDRYPLI VKIDLNLLTR IPGKPYKETE PPKGEKKNVP EKHSREVQKQ
760 770 780 790 800
ASEKASNKGK RKHKNDDDTR ASESKKPKTE DKNSSGHKPS SSRESSKQSS
810 820 830 840 850
TKEKDLLPSP AGPILSKDSK TEHGSRKRTV SQSSSLKSSG TSSKENSGSS
860 870 880 890 900
SKSSSSSTAK QKKTEGKGPS SSKEAKEKAP NSSSNCPPST PTSESSKPRR
910 920 930 940 950
TKLAFDDRNY SADHYLQEAK KLKHNADALS DRFEKAVYYL DAVVSFIECG
960 970 980 990 1000
NALEKNAQES KSPFPMYSDT VELIKYTMKL KNYLAPDATA ADKRLTVLCL
1010 1020 1030 1040 1050
RCQSLLYLRL FKLKKENALK YSKTLTEHLK NSYSNSQAPS PGLGSKAVGM
1060 1070 1080 1090 1100
PSPVSPKLSP GNSGSYSSGG SSASASGSSV TIPQKIHQMA ASYVQVTSNF
1110 1120 1130 1140 1150
LYATEIWDQA EQLSKEQKEF FAELDKVMGP LIFNASIMTD LARYTRQGLH
1160
WLRQDAKLIS
Length:1,160
Mass (Da):126,639
Last modified:March 1, 2001 - v1
Checksum:i0C13253EAC9192B3
GO

Sequence cautioni

The sequence BAC28178 differs from that shown. Reason: Frameshift at position 921.Curated
The sequence BAC35763 differs from that shown. Reason: Frameshift at positions 573 and 577.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti932R → S in BAC28178 (PubMed:16141072).Curated1
Sequence conflicti980L → Q in BAC28178 (PubMed:16141072).Curated1
Sequence conflicti1088Q → K in BAC28178 (PubMed:16141072).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF190449 mRNA Translation: AAG17126.1
AK033163 mRNA Translation: BAC28178.1 Frameshift.
AK053034 mRNA Translation: BAC35244.1
AK054401 mRNA Translation: BAC35763.1 Frameshift.
BC138999 mRNA Translation: AAI39000.1
CCDSiCCDS24676.1
RefSeqiNP_291043.1, NM_033565.2
XP_011247633.1, XM_011249331.2
UniGeneiMm.395281

Genome annotation databases

EnsembliENSMUST00000060945; ENSMUSP00000051479; ENSMUSG00000049470
GeneIDi93736
KEGGimmu:93736
UCSCiuc007ivu.2 mouse

Similar proteinsi

Entry informationi

Entry nameiAFF4_MOUSE
AccessioniPrimary (citable) accession number: Q9ESC8
Secondary accession number(s): B2RST9
, Q8C6K4, Q8C6W3, Q8CCH3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 13, 2006
Last sequence update: March 1, 2001
Last modified: March 28, 2018
This is version 120 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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