P51826 (AFF3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
AF4/FMR2 family member 3

Alternative name(s):
Lymphoid nuclear protein related to AF4
Short name=Protein LAF-4

Gene names

Name:	AFF3
Synonyms:	LAF4

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	1226 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Putative transcription activator that may function in lymphoid development and oncogenesis. Binds, in vitro, to double-stranded DNA.
Subcellular location	Nucleus.
Tissue specificity	Preferentially expressed in lymphoid tissues, highest levels being found in the thymus.
Sequence similarities	Belongs to the AF4 family.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	DNA-binding
Molecular function	Activator
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	embryonic hindlimb morphogenesis Inferred from mutant phenotype PubMed 18616733. Source: BHF-UCL regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW response to tumor necrosis factor Inferred from mutant phenotype PubMed 20444755. Source: BHF-UCL transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleolus Inferred from direct assay. Source: HPA
Molecular_function	double-stranded DNA binding Inferred from direct assay Ref.1. Source: BHF-UCL
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: P51826-1)

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: P51826-2)

The sequence of this isoform differs from the canonical sequence as follows:
     18-18: C → WGEDILNQRNDSLVVEFQSSASRCRS

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1226	1226	AF4/FMR2 family member 3		PRO_0000215916
Regions
	Compositional bias	413 – 419	7	Poly-Ser
	Compositional bias	422 – 432	11	Poly-Ser
	Compositional bias	440 – 445	6	Poly-Ser
	Compositional bias	670 – 679	10	Poly-Ser
Amino acid modifications
	Modified residue	755	1	Phosphoserine Ref.7
	Modified residue	881	1	Phosphoserine Ref.7
Natural variations
	Alternative sequence	18	1	C → WGEDILNQRNDSLVVEFQSS ASRCRS in isoform 2.		VSP_041120
	Natural variant	358	1	S → N. Ref.1 Ref.3 Ref.4 Corresponds to variant rs4851223 [ dbSNP | Ensembl ].		VAR_030805
	Natural variant	494	1	N → S. Corresponds to variant rs1047265 [ dbSNP | Ensembl ].		VAR_030806
Experimental info
	Sequence conflict	87	1	S → T in AAA98763. Ref.1
	Sequence conflict	421	1	S → T in AAA98763. Ref.1
	Sequence conflict	1030	1	T → YL in AAA98763. Ref.1
	Sequence conflict	1120	1	M → I in AAA98763. Ref.1
	Sequence conflict	1125 – 1127	3	SPA → FPG in AAA98763. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 20, 2007. Version 2. Checksum: 3B51EB475C77A514	FASTA	1,226	133,476
	10 20 30 40 50 60 MDSFDLALLQ EWDLESLCVY EPDRNALRRK ERERRNQETQ QDDGTFNSSY SLFSEPYKTN 70 80 90 100 110 120 KGDELSNRIQ NTLGNYDEMK DFLTDRSNQS HLVGVPKPGV PQTPVNKIDE HFVADSRAQN 130 140 150 160 170 180 QPSSICSTTT STPAAVPVQQ SKRGTMGWQK AGHPPSDGQQ RATQQGSLRT LLGDGVGRQQ 190 200 210 220 230 240 PRAKQVCNVE VGLQTQERPP AMAAKHSSSG HCVQNFPPSL ASKPSLVQQK PTAYVRPMDG 250 260 270 280 290 300 QDQAPDESPK LKSSSETSVH CTSYRGVPAS KPEPARAKAK LSKFSIPKQG EESRSGETNS 310 320 330 340 350 360 CVEEIIREMT WLPPLSAIQA PGKVEPTKFP FPNKDSQLVS SGHNNPKKGD AEPESPDSGT 370 380 390 400 410 420 SNTSMLEDDL KLSSDEEENE QQAAQRTALR ALSDSAVVQQ PNCRTSVPSS KGSSSSSSSG 430 440 450 460 470 480 SSSSSSDSES SSGSDSETES SSSESEGSKP PHFSSPEAEP ASSNKWQLDK WLNKVNPHKP 490 500 510 520 530 540 PILIQNESHG SESNQYYNPV KEDVQDCGKV PDVCQPSLRE KEIKSTCKEE QRPRTANKAP 550 560 570 580 590 600 GSKGVKQKSP PAAVAVAVSA AAPPPAVPCA PAENAPAPAR RSAGKKPTRR TERTSAGDGA 610 620 630 640 650 660 NCHRPEEPAA ADALGTSVVV PPEPTKTRPC GNNRASHRKE LRSSVTCEKR RTRGLSRIVP 670 680 690 700 710 720 KSKEFIETES SSSSSSSDSD LESEQEEYPL SKAQTVAASA SSGNDQRLKE AAANGGSGPR 730 740 750 760 770 780 APVGSINART TSDIAKELEE QFYTLVPFGR NELLSPLKDS DEIRSLWVKI DLTLLSRIPE 790 800 810 820 830 840 HLPQEPGVLS APATKDSESA PPSHTSDTPA EKALPKSKRK RKCDNEDDYR EIKKSQGEKD 850 860 870 880 890 900 SSSRLATSTS NTLSANHCNM NINSVAIPIN KNEKMLRSPI SPLSDASKHK YTSEDLTSSS 910 920 930 940 950 960 RPNGNSLFTS ASSSKKPKAD SQLQPHGGDL TKAAHNNSEN IPLHKSRPQT KPWSPGSNGH 970 980 990 1000 1010 1020 RDCKRQKLVF DDMPRSADYF MQEAKRMKHK ADAMVEKFGK ALNYAEAALS FIECGNAMEQ 1030 1040 1050 1060 1070 1080 GPMESKSPYT MYSETVELIR YAMRLKTHSG PNATPEDKQL AALCYRCLAL LYWRMFRLKR 1090 1100 1110 1120 1130 1140 DHAVKYSKAL IDYFKNSSKA AQAPSPWGAS GKSTGTPSPM SPNPSPASSV GSQGSLSNAS 1150 1160 1170 1180 1190 1200 ALSPSTIVSI PQRIHQMAAN HVSITNSILH SYDYWEMADN LAKENREFFN DLDLLMGPVT 1210 1220 LHSSMEHLVQ YSQQGLHWLR NSAHLS
	Isoform 2 [UniParc]. Checksum: 73689D7FF83EDF07	FASTA	1,251	136,352
	10 20 30 40 50 60 MDSFDLALLQ EWDLESLWGE DILNQRNDSL VVEFQSSASR CRSVYEPDRN ALRRKERERR 70 80 90 100 110 120 NQETQQDDGT FNSSYSLFSE PYKTNKGDEL SNRIQNTLGN YDEMKDFLTD RSNQSHLVGV 130 140 150 160 170 180 PKPGVPQTPV NKIDEHFVAD SRAQNQPSSI CSTTTSTPAA VPVQQSKRGT MGWQKAGHPP 190 200 210 220 230 240 SDGQQRATQQ GSLRTLLGDG VGRQQPRAKQ VCNVEVGLQT QERPPAMAAK HSSSGHCVQN 250 260 270 280 290 300 FPPSLASKPS LVQQKPTAYV RPMDGQDQAP DESPKLKSSS ETSVHCTSYR GVPASKPEPA 310 320 330 340 350 360 RAKAKLSKFS IPKQGEESRS GETNSCVEEI IREMTWLPPL SAIQAPGKVE PTKFPFPNKD 370 380 390 400 410 420 SQLVSSGHNN PKKGDAEPES PDSGTSNTSM LEDDLKLSSD EEENEQQAAQ RTALRALSDS 430 440 450 460 470 480 AVVQQPNCRT SVPSSKGSSS SSSSGSSSSS SDSESSSGSD SETESSSSES EGSKPPHFSS 490 500 510 520 530 540 PEAEPASSNK WQLDKWLNKV NPHKPPILIQ NESHGSESNQ YYNPVKEDVQ DCGKVPDVCQ 550 560 570 580 590 600 PSLREKEIKS TCKEEQRPRT ANKAPGSKGV KQKSPPAAVA VAVSAAAPPP AVPCAPAENA 610 620 630 640 650 660 PAPARRSAGK KPTRRTERTS AGDGANCHRP EEPAAADALG TSVVVPPEPT KTRPCGNNRA 670 680 690 700 710 720 SHRKELRSSV TCEKRRTRGL SRIVPKSKEF IETESSSSSS SSDSDLESEQ EEYPLSKAQT 730 740 750 760 770 780 VAASASSGND QRLKEAAANG GSGPRAPVGS INARTTSDIA KELEEQFYTL VPFGRNELLS 790 800 810 820 830 840 PLKDSDEIRS LWVKIDLTLL SRIPEHLPQE PGVLSAPATK DSESAPPSHT SDTPAEKALP 850 860 870 880 890 900 KSKRKRKCDN EDDYREIKKS QGEKDSSSRL ATSTSNTLSA NHCNMNINSV AIPINKNEKM 910 920 930 940 950 960 LRSPISPLSD ASKHKYTSED LTSSSRPNGN SLFTSASSSK KPKADSQLQP HGGDLTKAAH 970 980 990 1000 1010 1020 NNSENIPLHK SRPQTKPWSP GSNGHRDCKR QKLVFDDMPR SADYFMQEAK RMKHKADAMV 1030 1040 1050 1060 1070 1080 EKFGKALNYA EAALSFIECG NAMEQGPMES KSPYTMYSET VELIRYAMRL KTHSGPNATP 1090 1100 1110 1120 1130 1140 EDKQLAALCY RCLALLYWRM FRLKRDHAVK YSKALIDYFK NSSKAAQAPS PWGASGKSTG 1150 1160 1170 1180 1190 1200 TPSPMSPNPS PASSVGSQGS LSNASALSPS TIVSIPQRIH QMAANHVSIT NSILHSYDYW 1210 1220 1230 1240 1250 EMADNLAKEN REFFNDLDLL MGPVTLHSSM EHLVQYSQQG LHWLRNSAHL S

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"LAF-4 encodes a lymphoid nuclear protein with transactivation potential that is homologous to AF-4, the gene fused to MLL in t(4;11) leukemias." Ma C., Staudt L.M. Blood 87:734-745(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ASN-358.
[2]	"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].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ASN-358.
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT ASN-358. Tissue: Lymph and Testis.
[5]	Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 689-1226. Tissue: Spleen.
[6]	"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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[7]	"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-755 AND SER-881, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	U34360 mRNA. Translation: AAA98763.1. AC092667 Genomic DNA. Translation: AAY24278.1. AC010736 Genomic DNA. Translation: AAY14792.1. AC073118 Genomic DNA. Translation: AAY24187.1. AC018690 Genomic DNA. Translation: AAY24315.1. CH471127 Genomic DNA. Translation: EAX01854.1. CH471127 Genomic DNA. Translation: EAX01855.1. CH471127 Genomic DNA. Translation: EAX01856.1. CH471127 Genomic DNA. Translation: EAX01857.1. CH471127 Genomic DNA. Translation: EAX01858.1. CH471127 Genomic DNA. Translation: EAX01859.1. BC036895 mRNA. Translation: AAH36895.1. BC136579 mRNA. Translation: AAI36580.1. BC144266 mRNA. Translation: AAI44267.1. AB209634 mRNA. Translation: BAD92871.1.
IPI	IPI00020918. IPI00515069.
RefSeq	NP_001020279.1. NM_001025108.1. NP_002276.2. NM_002285.2.
UniGene	Hs.444414.
3D structure databases
ProteinModelPortal	P51826.
ModBase	Search...
Protein-protein interaction databases
IntAct	P51826. 1 interaction.
STRING	9606.ENSP00000348793.
PTM databases
PhosphoSite	P51826.
Polymorphism databases
DMDM	126302515.
Proteomic databases
PaxDb	P51826.
PRIDE	P51826.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000317233; ENSP00000317421; ENSG00000144218. ENST00000356421; ENSP00000348793; ENSG00000144218. ENST00000409236; ENSP00000387207; ENSG00000144218. ENST00000409579; ENSP00000386834; ENSG00000144218.
GeneID	3899.
KEGG	hsa:3899.
UCSC	uc002taf.3. human. uc002tag.3. human.
Organism-specific databases
CTD	3899.
GeneCards	GC02M100163.
HGNC	HGNC:6473. AFF3.
HPA	HPA044512.
MIM	601464. gene.
neXtProt	NX_P51826.
PharmGKB	PA30264.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG69292.
HOVERGEN	HBG004189.
KO	K15195.
OMA	GESNSCV.
OrthoDB	EOG441QB8.
Gene expression databases
ArrayExpress	P51826.
Bgee	P51826.
CleanEx	HS_AFF3.
Genevestigator	P51826.
GermOnline	ENSG00000144218. Homo sapiens.
Family and domain databases
InterPro	IPR007797. TF_AF4/FMR2. [Graphical view]
PANTHER	PTHR10528. PTHR10528. 1 hit.
Pfam	PF05110. AF-4. 2 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	AFF3. human.
GenomeRNAi	3899.
NextBio	15311.
SOURCE	Search...

Entry information

Entry name

AFF3_HUMAN

Accession

Primary (citable) accession number: P51826
Secondary accession number(s): B7ZM46 , B9EGL9, D3DVI6, Q53RD6, Q53S47, Q53SI6, Q53TB9, Q59F27, Q8IWJ5

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	February 20, 2007
Last modified:	May 1, 2013
This is version 101 of the entry and version 2 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.