P51825 (AFF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	AFF1
Synonyms:	AF4, FEL, MLLT2, PBM1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1210 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subunit structure	Component of the super elongation complex (SEC), at least composed of EAF1, MLLT3/AF9, AFF (AFF1 or AFF4), the P-TEFb complex and ELL (ELL, ELL2 or ELL3).
Subcellular location	Nucleus Potential.
Involvement in disease	A chromosomal aberration involving AFF1 is associated with acute leukemias. Translocation t(4;11)(q21;q23) with MLL/HRX. The result is a rogue activator protein.
Sequence similarities	Belongs to the AF4 family.
Sequence caution	The sequence AAA36642.1 differs from that shown. Reason: Frameshift at positions 897, 905 and 1178.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Chromosomal rearrangement Polymorphism
Disease	Proto-oncogene
PTM	Acetylation Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	sequence-specific DNA binding transcription factor activity Traceable author statement PubMed 7689231. Source: ProtInc
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
tat	P04608	3	EBI-2610180,EBI-6164389	From a different organism.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P51825-1)

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.

Isoform 2 (identifier: P51825-2)

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.

Isoform 3 (identifier: P51825-3)

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

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1210

1210

AF4/FMR2 family member 1

PRO_0000215910

Regions

Compositional bias

483 – 492

10

Poly-Ser

Compositional bias

835 – 843

9

Poly-Ser

Compositional bias

866 – 869

4

Poly-Pro

Compositional bias

871 – 874

4

Poly-Ser

Amino acid modifications

Modified residue

206

1

Phosphoserine Ref.6 Ref.7 Ref.8 Ref.9 Ref.11

Modified residue

212

1

Phosphoserine Ref.6 Ref.7 Ref.8

Modified residue

220

1

Phosphothreonine Ref.7

Modified residue

588

1

Phosphoserine Ref.8

Modified residue

681

1

N6-acetyllysine Ref.10

Modified residue

697

1

Phosphothreonine Ref.6 Ref.12

Modified residue

750

1

Phosphoserine Ref.7 Ref.8 Ref.9

Modified residue

755

1

Phosphothreonine Ref.7

Natural variations

Alternative sequence

1 – 5

5

MAAQS → MAFTERVNSSGN in isoform 2.

VSP_046095

Alternative sequence

1096

1

A → AR in isoform 2 and isoform 3.

VSP_046096

Natural variant

209

1

P → A.
Corresponds to variant rs3733378 [ dbSNP | Ensembl ].

VAR_020370

Natural variant

1204

1

Q → K in a breast cancer sample; somatic mutation. Ref.15

VAR_036130

Experimental info

Sequence conflict

46

1

K → R in AAA36642. Ref.2

Sequence conflict

624

1

E → G in AAA36642. Ref.2

Sequence conflict

762

1

M → V in BAG62103. Ref.3

Sequence conflict

820

1

R → G in BAG62103. Ref.3

Sequence conflict

899 – 905

7

SASSTKS → VPAVPRV in AAA36642. Ref.2

Sequence conflict

928 – 929

2

EH → AD in AAA36642. Ref.2

Sequence conflict

999

1

I → N in AAA36642. Ref.2

Sequence conflict

1140

1

N → I in AAA36642. Ref.2

Secondary structure

1

.

.

.

1210

Helix Strand Turn

Details...

Turn

768 – 770

3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 1996. Version 1. Checksum: F0E334DF8FC2FF04	FASTA	1,210	131,422
	10 20 30 40 50 60 MAAQSSLYND DRNLLRIREK ERRNQEAHQE KEAFPEKIPL FGEPYKTAKG DELSSRIQNM 70 80 90 100 110 120 LGNYEEVKEF LSTKSHTHRL DASENRLGKP KYPLIPDKGS SIPSSSFHTS VHHQSIHTPA 130 140 150 160 170 180 SGPLSVGNIS HNPKMAQPRT EPMPSLHAKS CGPPDSQHLT QDRLGQEGFG SSHHKKGDRR 190 200 210 220 230 240 ADGDHCASVT DSAPERELSP LISLPSPVPP LSPIHSNQQT LPRTQGSSKV HGSSNNSKGY 250 260 270 280 290 300 CPAKSPKDLA VKVHDKETPQ DSLVAPAQPP SQTFPPPSLP SKSVAMQQKP TAYVRPMDGQ 310 320 330 340 350 360 DQAPSESPEL KPLPEDYRQQ TFEKTDLKVP AKAKLTKLKM PSQSVEQTYS NEVHCVEEIL 370 380 390 400 410 420 KEMTHSWPPP LTAIHTPSTA EPSKFPFPTK DSQHVSSVTQ NQKQYDTSSK THSNSQQGTS 430 440 450 460 470 480 SMLEDDLQLS DSEDSDSEQT PEKPPSSSAP PSAPQSLPEP VASAHSSSAE SESTSDSDSS 490 500 510 520 530 540 SDSESESSSS DSEENEPLET PAPEPEPPTT NKWQLDNWLT KVSQPAAPPE GPRSTEPPRR 550 560 570 580 590 600 HPESKGSSDS ATSQEHSESK DPPPKSSSKA PRAPPEAPHP GKRSCQKSPA QQEPPQRQTV 610 620 630 640 650 660 GTKQPKKPVK ASARAGSRTS LQGEREPGLL PYGSRDQTSK DKPKVKTKGR PRAAASNEPK 670 680 690 700 710 720 PAVPPSSEKK KHKSSLPAPS KALSGPEPAK DNVEDRTPEH FALVPLTESQ GPPHSGSGSR 730 740 750 760 770 780 TSGCRQAVVV QEDSRKDRLP LPLRDTKLLS PLRDTPPPQS LMVKITLDLL SRIPQPPGKG 790 800 810 820 830 840 SRQRKAEDKQ PPAGKKHSSE KRSSDSSSKL AKKRKGEAER DCDNKKIRLE KEIKSQSSSS 850 860 870 880 890 900 SSSHKESSKT KPSRPSSQSS KKEMLPPPPV SSSSQKPAKP ALKRSRREAD TCGQDPPKSA 910 920 930 940 950 960 SSTKSNHKDS SIPKQRRVEG KGSRSSSEHK GSSGDTANPF PVPSLPNGNS KPGKPQVKFD 970 980 990 1000 1010 1020 KQQADLHMRE AKKMKQKAEL MTDRVGKAFK YLEAVLSFIE CGIATESESQ SSKSAYSVYS 1030 1040 1050 1060 1070 1080 ETVDLIKFIM SLKSFSDATA PTQEKIFAVL CMRCQSILNM AMFRCKKDIA IKYSRTLNKH 1090 1100 1110 1120 1130 1140 FESSSKVAQA PSPCIASTGT PSPLSPMPSP ASSVGSQSSA GSVGSSGVAA TISTPVTIQN 1150 1160 1170 1180 1190 1200 MTSSYVTITS HVLTAFDLWE QAEALTRKNK EFFARLSTNV CTLALNSSLV DLVHYTRQGF 1210 QQLQELTKTP
	Isoform 2 [UniParc]. Checksum: 8C9DCE41FF2EA841	FASTA	1,218	132,384
	10 20 30 40 50 60 MAFTERVNSS GNSLYNDDRN LLRIREKERR NQEAHQEKEA FPEKIPLFGE PYKTAKGDEL 70 80 90 100 110 120 SSRIQNMLGN YEEVKEFLST KSHTHRLDAS ENRLGKPKYP LIPDKGSSIP SSSFHTSVHH 130 140 150 160 170 180 QSIHTPASGP LSVGNISHNP KMAQPRTEPM PSLHAKSCGP PDSQHLTQDR LGQEGFGSSH 190 200 210 220 230 240 HKKGDRRADG DHCASVTDSA PERELSPLIS LPSPVPPLSP IHSNQQTLPR TQGSSKVHGS 250 260 270 280 290 300 SNNSKGYCPA KSPKDLAVKV HDKETPQDSL VAPAQPPSQT FPPPSLPSKS VAMQQKPTAY 310 320 330 340 350 360 VRPMDGQDQA PSESPELKPL PEDYRQQTFE KTDLKVPAKA KLTKLKMPSQ SVEQTYSNEV 370 380 390 400 410 420 HCVEEILKEM THSWPPPLTA IHTPSTAEPS KFPFPTKDSQ HVSSVTQNQK QYDTSSKTHS 430 440 450 460 470 480 NSQQGTSSML EDDLQLSDSE DSDSEQTPEK PPSSSAPPSA PQSLPEPVAS AHSSSAESES 490 500 510 520 530 540 TSDSDSSSDS ESESSSSDSE ENEPLETPAP EPEPPTTNKW QLDNWLTKVS QPAAPPEGPR 550 560 570 580 590 600 STEPPRRHPE SKGSSDSATS QEHSESKDPP PKSSSKAPRA PPEAPHPGKR SCQKSPAQQE 610 620 630 640 650 660 PPQRQTVGTK QPKKPVKASA RAGSRTSLQG EREPGLLPYG SRDQTSKDKP KVKTKGRPRA 670 680 690 700 710 720 AASNEPKPAV PPSSEKKKHK SSLPAPSKAL SGPEPAKDNV EDRTPEHFAL VPLTESQGPP 730 740 750 760 770 780 HSGSGSRTSG CRQAVVVQED SRKDRLPLPL RDTKLLSPLR DTPPPQSLMV KITLDLLSRI 790 800 810 820 830 840 PQPPGKGSRQ RKAEDKQPPA GKKHSSEKRS SDSSSKLAKK RKGEAERDCD NKKIRLEKEI 850 860 870 880 890 900 KSQSSSSSSS HKESSKTKPS RPSSQSSKKE MLPPPPVSSS SQKPAKPALK RSRREADTCG 910 920 930 940 950 960 QDPPKSASST KSNHKDSSIP KQRRVEGKGS RSSSEHKGSS GDTANPFPVP SLPNGNSKPG 970 980 990 1000 1010 1020 KPQVKFDKQQ ADLHMREAKK MKQKAELMTD RVGKAFKYLE AVLSFIECGI ATESESQSSK 1030 1040 1050 1060 1070 1080 SAYSVYSETV DLIKFIMSLK SFSDATAPTQ EKIFAVLCMR CQSILNMAMF RCKKDIAIKY 1090 1100 1110 1120 1130 1140 SRTLNKHFES SSKVAQAPSP CIARSTGTPS PLSPMPSPAS SVGSQSSAGS VGSSGVAATI 1150 1160 1170 1180 1190 1200 STPVTIQNMT SSYVTITSHV LTAFDLWEQA EALTRKNKEF FARLSTNVCT LALNSSLVDL 1210 VHYTRQGFQQ LQELTKTP
	Isoform 3 [UniParc]. Checksum: FD08BE7A2BE38BFC	FASTA	1,211	131,578
	10 20 30 40 50 60 MAAQSSLYND DRNLLRIREK ERRNQEAHQE KEAFPEKIPL FGEPYKTAKG DELSSRIQNM 70 80 90 100 110 120 LGNYEEVKEF LSTKSHTHRL DASENRLGKP KYPLIPDKGS SIPSSSFHTS VHHQSIHTPA 130 140 150 160 170 180 SGPLSVGNIS HNPKMAQPRT EPMPSLHAKS CGPPDSQHLT QDRLGQEGFG SSHHKKGDRR 190 200 210 220 230 240 ADGDHCASVT DSAPERELSP LISLPSPVPP LSPIHSNQQT LPRTQGSSKV HGSSNNSKGY 250 260 270 280 290 300 CPAKSPKDLA VKVHDKETPQ DSLVAPAQPP SQTFPPPSLP SKSVAMQQKP TAYVRPMDGQ 310 320 330 340 350 360 DQAPSESPEL KPLPEDYRQQ TFEKTDLKVP AKAKLTKLKM PSQSVEQTYS NEVHCVEEIL 370 380 390 400 410 420 KEMTHSWPPP LTAIHTPSTA EPSKFPFPTK DSQHVSSVTQ NQKQYDTSSK THSNSQQGTS 430 440 450 460 470 480 SMLEDDLQLS DSEDSDSEQT PEKPPSSSAP PSAPQSLPEP VASAHSSSAE SESTSDSDSS 490 500 510 520 530 540 SDSESESSSS DSEENEPLET PAPEPEPPTT NKWQLDNWLT KVSQPAAPPE GPRSTEPPRR 550 560 570 580 590 600 HPESKGSSDS ATSQEHSESK DPPPKSSSKA PRAPPEAPHP GKRSCQKSPA QQEPPQRQTV 610 620 630 640 650 660 GTKQPKKPVK ASARAGSRTS LQGEREPGLL PYGSRDQTSK DKPKVKTKGR PRAAASNEPK 670 680 690 700 710 720 PAVPPSSEKK KHKSSLPAPS KALSGPEPAK DNVEDRTPEH FALVPLTESQ GPPHSGSGSR 730 740 750 760 770 780 TSGCRQAVVV QEDSRKDRLP LPLRDTKLLS PLRDTPPPQS LMVKITLDLL SRIPQPPGKG 790 800 810 820 830 840 SRQRKAEDKQ PPAGKKHSSE KRSSDSSSKL AKKRKGEAER DCDNKKIRLE KEIKSQSSSS 850 860 870 880 890 900 SSSHKESSKT KPSRPSSQSS KKEMLPPPPV SSSSQKPAKP ALKRSRREAD TCGQDPPKSA 910 920 930 940 950 960 SSTKSNHKDS SIPKQRRVEG KGSRSSSEHK GSSGDTANPF PVPSLPNGNS KPGKPQVKFD 970 980 990 1000 1010 1020 KQQADLHMRE AKKMKQKAEL MTDRVGKAFK YLEAVLSFIE CGIATESESQ SSKSAYSVYS 1030 1040 1050 1060 1070 1080 ETVDLIKFIM SLKSFSDATA PTQEKIFAVL CMRCQSILNM AMFRCKKDIA IKYSRTLNKH 1090 1100 1110 1120 1130 1140 FESSSKVAQA PSPCIARSTG TPSPLSPMPS PASSVGSQSS AGSVGSSGVA ATISTPVTIQ 1150 1160 1170 1180 1190 1200 NMTSSYVTIT SHVLTAFDLW EQAEALTRKN KEFFARLSTN VCTLALNSSL VDLVHYTRQG 1210 FQQLQELTKT P

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Genes on chromosomes 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs." Nakamura T., Alder H., Gu Y., Prasad R., Canaani O., Kamada N., Gale R.P., Lange B., Crist W.M., Nowell P.C., Croce C.M., Canaani E. Proc. Natl. Acad. Sci. U.S.A. 90:4631-4635(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]	"A serine/proline-rich protein is fused to HRX in t(4;11) acute leukemias." Morrissey J., Tkachuk D.C., Milatovich A., Francke U., Link M., Cleary M.L. Blood 81:1124-1131(1993) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), CHROMOSOMAL TRANSLOCATION WITH MLL/HRX.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Placenta.
[4]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The t(4;11) chromosome translocation of human acute leukemias fuses the ALL-1 gene, related to Drosophila trithorax, to the AF-4 gene." Gu Y., Nakamura T., Alder H., Prasad R., Canaani O., Cimino G., Croce C.M., Canaani E. Cell 71:701-708(1992) [PubMed] [Europe PMC] [Abstract] Cited for: CHROMOSOMAL TRANSLOCATION WITH MLL/HRX.
[6]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-206; SER-212 AND THR-697, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[7]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-206; SER-212; THR-220; SER-750 AND THR-755, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[8]	"Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-206; SER-212; SER-588 AND SER-750, MASS SPECTROMETRY.
[9]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-206 AND SER-750, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[10]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-681, MASS SPECTROMETRY.
[11]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-206, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[12]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-697, MASS SPECTROMETRY.
[13]	"The super elongation complex (SEC) family in transcriptional control." Luo Z., Lin C., Shilatifard A. Nat. Rev. Mol. Cell Biol. 13:543-547(2012) [PubMed] [Europe PMC] [Abstract] Cited for: REVIEW ON THE SUPER ELONGATION COMPLEX.
[14]	"Leukemia fusion target AF9 is an intrinsically disordered transcriptional regulator that recruits multiple partners via coupled folding and binding." Leach B.I., Kuntimaddi A., Schmidt C.R., Cierpicki T., Johnson S.A., Bushweller J.H. Structure 21:176-183(2013) [PubMed] [Europe PMC] [Abstract] Cited for: STRUCTURE BY NMR OF 738-779 IN COMPLEX WITH MLLT3.
[15]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] LYS-1204.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.

IPI

IPI00396310.
IPI00873029.

PIR

A58198.
I39410.

RefSeq

NP_001160165.1. NM_001166693.1.
NP_005926.1. NM_005935.2.

UniGene

Hs.480190.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2LM0	NMR	-	A	738-779	[»]

ProteinModelPortal

P51825.

ModBase

Search...

Protein-protein interaction databases

IntAct

P51825. 14 interactions.

MINT

MINT-1198004.

STRING

9606.ENSP00000305689.

PTM databases

PhosphoSite

P51825.

Polymorphism databases

DMDM

1703194.

Proteomic databases

PaxDb

P51825.

PRIDE

P51825.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000307808; ENSP00000305689; ENSG00000172493.
ENST00000395146; ENSP00000378578; ENSG00000172493.

GeneID

4299.

KEGG

hsa:4299.

UCSC

uc003hqj.4. human.

Organism-specific databases

CTD

4299.

GeneCards

GC04P087856.

HGNC

HGNC:7135. AFF1.

MIM

159557. gene.

neXtProt

NX_P51825.

Orphanet

99860. Precursor B-cell acute lymphoblastic leukemia.

PharmGKB

PA30851.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG120323.

HOVERGEN

HBG004189.

KO

K15184.

OrthoDB

EOG4M91QS.

Gene expression databases

ArrayExpress

P51825.

Bgee

P51825.

CleanEx

HS_AFF1.

Genevestigator

P51825.

GermOnline

ENSG00000172493. Homo sapiens.

Family and domain databases

InterPro

IPR007797. TF_AF4/FMR2.
[Graphical view]

PANTHER

PTHR10528. PTHR10528. 1 hit.

Pfam

PF05110. AF-4. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

ChiTaRS

AFF1. human.

GenomeRNAi

4299.

NextBio

16923.

SOURCE

Search...

Entry information

Entry name

AFF1_HUMAN

Accession

Primary (citable) accession number: P51825
Secondary accession number(s): B4DTU1, E9PBM3

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	October 1, 1996
Last modified:	May 1, 2013
This is version 105 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.