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Protein

AF4/FMR2 family member 3

Gene

AFF3

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

Functioni

Putative transcription activator that may function in lymphoid development and oncogenesis. Binds, in vitro, to double-stranded DNA.

GO - Molecular functioni

  1. double-stranded DNA binding Source: BHF-UCL

GO - Biological processi

  1. embryonic hindlimb morphogenesis Source: BHF-UCL
  2. regulation of transcription, DNA-templated Source: UniProtKB-KW
  3. response to tumor necrosis factor Source: BHF-UCL
  4. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
AF4/FMR2 family member 3
Alternative name(s):
Lymphoid nuclear protein related to AF4
Short name:
Protein LAF-4
Gene namesi
Name:AFF3
Synonyms:LAF4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:6473. AFF3.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. nucleoplasm Source: HPA
  3. nucleus Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA30264.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 12261226AF4/FMR2 family member 3PRO_0000215916Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei755 – 7551Phosphoserine1 Publication
Modified residuei881 – 8811Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP51826.
PaxDbiP51826.
PRIDEiP51826.

PTM databases

PhosphoSiteiP51826.

Expressioni

Tissue specificityi

Preferentially expressed in lymphoid tissues, highest levels being found in the thymus.

Gene expression databases

BgeeiP51826.
CleanExiHS_AFF3.
ExpressionAtlasiP51826. baseline and differential.
GenevestigatoriP51826.

Organism-specific databases

HPAiHPA044512.

Interactioni

Protein-protein interaction databases

BioGridi110096. 2 interactions.
IntActiP51826. 1 interaction.
STRINGi9606.ENSP00000348793.

Structurei

3D structure databases

ProteinModelPortaliP51826.
SMRiP51826. Positions 23-83.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi413 – 4197Poly-Ser
Compositional biasi422 – 43211Poly-SerAdd
BLAST
Compositional biasi440 – 4456Poly-Ser
Compositional biasi670 – 67910Poly-Ser

Sequence similaritiesi

Belongs to the AF4 family.Curated

Phylogenomic databases

eggNOGiNOG69292.
GeneTreeiENSGT00530000063217.
HOVERGENiHBG004189.
InParanoidiP51826.
KOiK15195.
OMAiSVTCEKR.
OrthoDBiEOG767390.
PhylomeDBiP51826.
TreeFamiTF326216.

Family and domain databases

InterProiIPR007797. TF_AF4/FMR2.
[Graphical view]
PANTHERiPTHR10528. PTHR10528. 1 hit.
PfamiPF05110. AF-4. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P51826-1) [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
MDSFDLALLQ EWDLESLCVY EPDRNALRRK ERERRNQETQ QDDGTFNSSY
60 70 80 90 100
SLFSEPYKTN KGDELSNRIQ NTLGNYDEMK DFLTDRSNQS HLVGVPKPGV
110 120 130 140 150
PQTPVNKIDE HFVADSRAQN QPSSICSTTT STPAAVPVQQ SKRGTMGWQK
160 170 180 190 200
AGHPPSDGQQ RATQQGSLRT LLGDGVGRQQ PRAKQVCNVE VGLQTQERPP
210 220 230 240 250
AMAAKHSSSG HCVQNFPPSL ASKPSLVQQK PTAYVRPMDG QDQAPDESPK
260 270 280 290 300
LKSSSETSVH CTSYRGVPAS KPEPARAKAK LSKFSIPKQG EESRSGETNS
310 320 330 340 350
CVEEIIREMT WLPPLSAIQA PGKVEPTKFP FPNKDSQLVS SGHNNPKKGD
360 370 380 390 400
AEPESPDSGT SNTSMLEDDL KLSSDEEENE QQAAQRTALR ALSDSAVVQQ
410 420 430 440 450
PNCRTSVPSS KGSSSSSSSG SSSSSSDSES SSGSDSETES SSSESEGSKP
460 470 480 490 500
PHFSSPEAEP ASSNKWQLDK WLNKVNPHKP PILIQNESHG SESNQYYNPV
510 520 530 540 550
KEDVQDCGKV PDVCQPSLRE KEIKSTCKEE QRPRTANKAP GSKGVKQKSP
560 570 580 590 600
PAAVAVAVSA AAPPPAVPCA PAENAPAPAR RSAGKKPTRR TERTSAGDGA
610 620 630 640 650
NCHRPEEPAA ADALGTSVVV PPEPTKTRPC GNNRASHRKE LRSSVTCEKR
660 670 680 690 700
RTRGLSRIVP KSKEFIETES SSSSSSSDSD LESEQEEYPL SKAQTVAASA
710 720 730 740 750
SSGNDQRLKE AAANGGSGPR APVGSINART TSDIAKELEE QFYTLVPFGR
760 770 780 790 800
NELLSPLKDS DEIRSLWVKI DLTLLSRIPE HLPQEPGVLS APATKDSESA
810 820 830 840 850
PPSHTSDTPA EKALPKSKRK RKCDNEDDYR EIKKSQGEKD SSSRLATSTS
860 870 880 890 900
NTLSANHCNM NINSVAIPIN KNEKMLRSPI SPLSDASKHK YTSEDLTSSS
910 920 930 940 950
RPNGNSLFTS ASSSKKPKAD SQLQPHGGDL TKAAHNNSEN IPLHKSRPQT
960 970 980 990 1000
KPWSPGSNGH RDCKRQKLVF DDMPRSADYF MQEAKRMKHK ADAMVEKFGK
1010 1020 1030 1040 1050
ALNYAEAALS FIECGNAMEQ GPMESKSPYT MYSETVELIR YAMRLKTHSG
1060 1070 1080 1090 1100
PNATPEDKQL AALCYRCLAL LYWRMFRLKR DHAVKYSKAL IDYFKNSSKA
1110 1120 1130 1140 1150
AQAPSPWGAS GKSTGTPSPM SPNPSPASSV GSQGSLSNAS ALSPSTIVSI
1160 1170 1180 1190 1200
PQRIHQMAAN HVSITNSILH SYDYWEMADN LAKENREFFN DLDLLMGPVT
1210 1220
LHSSMEHLVQ YSQQGLHWLR NSAHLS
Length:1,226
Mass (Da):133,476
Last modified:February 20, 2007 - v2
Checksum:i3B51EB475C77A514
GO
Isoform 2 (identifier: P51826-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:1,251
Mass (Da):136,352
Checksum:i73689D7FF83EDF07
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti87 – 871S → T in AAA98763. (PubMed:8555498)Curated
Sequence conflicti421 – 4211S → T in AAA98763. (PubMed:8555498)Curated
Sequence conflicti1030 – 10301T → YL in AAA98763. (PubMed:8555498)Curated
Sequence conflicti1120 – 11201M → I in AAA98763. (PubMed:8555498)Curated
Sequence conflicti1125 – 11273SPA → FPG in AAA98763. (PubMed:8555498)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti358 – 3581S → N.3 Publications
Corresponds to variant rs4851223 [ dbSNP | Ensembl ].
VAR_030805
Natural varianti494 – 4941N → S.
Corresponds to variant rs1047265 [ dbSNP | Ensembl ].
VAR_030806

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei18 – 181C → WGEDILNQRNDSLVVEFQSS ASRCRS in isoform 2. 1 PublicationVSP_041120

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS33258.1. [P51826-2]
CCDS42723.1. [P51826-1]
RefSeqiNP_001020279.1. NM_001025108.1.
NP_002276.2. NM_002285.2.
XP_005264000.2. XM_005263943.2.
UniGeneiHs.444414.

Genome annotation databases

EnsembliENST00000317233; ENSP00000317421; ENSG00000144218.
ENST00000409236; ENSP00000387207; ENSG00000144218.
ENST00000409579; ENSP00000386834; ENSG00000144218.
GeneIDi3899.
KEGGihsa:3899.
UCSCiuc002taf.3. human. [P51826-2]
uc002tag.3. human. [P51826-1]

Polymorphism databases

DMDMi126302515.

Keywords - Coding sequence diversityi

Alternative splicing, 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
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.
CCDSiCCDS33258.1. [P51826-2]
CCDS42723.1. [P51826-1]
RefSeqiNP_001020279.1. NM_001025108.1.
NP_002276.2. NM_002285.2.
XP_005264000.2. XM_005263943.2.
UniGeneiHs.444414.

3D structure databases

ProteinModelPortaliP51826.
SMRiP51826. Positions 23-83.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110096. 2 interactions.
IntActiP51826. 1 interaction.
STRINGi9606.ENSP00000348793.

PTM databases

PhosphoSiteiP51826.

Polymorphism databases

DMDMi126302515.

Proteomic databases

MaxQBiP51826.
PaxDbiP51826.
PRIDEiP51826.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317233; ENSP00000317421; ENSG00000144218.
ENST00000409236; ENSP00000387207; ENSG00000144218.
ENST00000409579; ENSP00000386834; ENSG00000144218.
GeneIDi3899.
KEGGihsa:3899.
UCSCiuc002taf.3. human. [P51826-2]
uc002tag.3. human. [P51826-1]

Organism-specific databases

CTDi3899.
GeneCardsiGC02M100163.
HGNCiHGNC:6473. AFF3.
HPAiHPA044512.
MIMi601464. gene.
neXtProtiNX_P51826.
PharmGKBiPA30264.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG69292.
GeneTreeiENSGT00530000063217.
HOVERGENiHBG004189.
InParanoidiP51826.
KOiK15195.
OMAiSVTCEKR.
OrthoDBiEOG767390.
PhylomeDBiP51826.
TreeFamiTF326216.

Miscellaneous databases

ChiTaRSiAFF3. human.
GeneWikiiAFF3.
GenomeRNAii3899.
NextBioi15311.
PROiP51826.
SOURCEiSearch...

Gene expression databases

BgeeiP51826.
CleanExiHS_AFF3.
ExpressionAtlasiP51826. baseline and differential.
GenevestigatoriP51826.

Family and domain databases

InterProiIPR007797. TF_AF4/FMR2.
[Graphical view]
PANTHERiPTHR10528. PTHR10528. 1 hit.
PfamiPF05110. AF-4. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-755 AND SER-881, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiAFF3_HUMAN
AccessioniPrimary (citable) accession number: P51826
Secondary accession number(s): B7ZM46
, B9EGL9, D3DVI6, Q53RD6, Q53S47, Q53SI6, Q53TB9, Q59F27, Q8IWJ5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: February 20, 2007
Last modified: February 4, 2015
This is version 116 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.