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P51826

- AFF3_HUMAN

UniProt

P51826 - AFF3_HUMAN

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Protein

AF4/FMR2 family member 3

Gene
AFF3, LAF4
Organism
Homo sapiens (Human)
Status
Reviewed - 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. 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

ArrayExpressiP51826.
BgeeiP51826.
CleanExiHS_AFF3.
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.

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.

Phylogenomic databases

eggNOGiNOG69292.
HOVERGENiHBG004189.
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

MDSFDLALLQ EWDLESLCVY EPDRNALRRK ERERRNQETQ QDDGTFNSSY     50
SLFSEPYKTN KGDELSNRIQ NTLGNYDEMK DFLTDRSNQS HLVGVPKPGV 100
PQTPVNKIDE HFVADSRAQN QPSSICSTTT STPAAVPVQQ SKRGTMGWQK 150
AGHPPSDGQQ RATQQGSLRT LLGDGVGRQQ PRAKQVCNVE VGLQTQERPP 200
AMAAKHSSSG HCVQNFPPSL ASKPSLVQQK PTAYVRPMDG QDQAPDESPK 250
LKSSSETSVH CTSYRGVPAS KPEPARAKAK LSKFSIPKQG EESRSGETNS 300
CVEEIIREMT WLPPLSAIQA PGKVEPTKFP FPNKDSQLVS SGHNNPKKGD 350
AEPESPDSGT SNTSMLEDDL KLSSDEEENE QQAAQRTALR ALSDSAVVQQ 400
PNCRTSVPSS KGSSSSSSSG SSSSSSDSES SSGSDSETES SSSESEGSKP 450
PHFSSPEAEP ASSNKWQLDK WLNKVNPHKP PILIQNESHG SESNQYYNPV 500
KEDVQDCGKV PDVCQPSLRE KEIKSTCKEE QRPRTANKAP GSKGVKQKSP 550
PAAVAVAVSA AAPPPAVPCA PAENAPAPAR RSAGKKPTRR TERTSAGDGA 600
NCHRPEEPAA ADALGTSVVV PPEPTKTRPC GNNRASHRKE LRSSVTCEKR 650
RTRGLSRIVP KSKEFIETES SSSSSSSDSD LESEQEEYPL SKAQTVAASA 700
SSGNDQRLKE AAANGGSGPR APVGSINART TSDIAKELEE QFYTLVPFGR 750
NELLSPLKDS DEIRSLWVKI DLTLLSRIPE HLPQEPGVLS APATKDSESA 800
PPSHTSDTPA EKALPKSKRK RKCDNEDDYR EIKKSQGEKD SSSRLATSTS 850
NTLSANHCNM NINSVAIPIN KNEKMLRSPI SPLSDASKHK YTSEDLTSSS 900
RPNGNSLFTS ASSSKKPKAD SQLQPHGGDL TKAAHNNSEN IPLHKSRPQT 950
KPWSPGSNGH RDCKRQKLVF DDMPRSADYF MQEAKRMKHK ADAMVEKFGK 1000
ALNYAEAALS FIECGNAMEQ GPMESKSPYT MYSETVELIR YAMRLKTHSG 1050
PNATPEDKQL AALCYRCLAL LYWRMFRLKR DHAVKYSKAL IDYFKNSSKA 1100
AQAPSPWGAS GKSTGTPSPM SPNPSPASSV GSQGSLSNAS ALSPSTIVSI 1150
PQRIHQMAAN HVSITNSILH SYDYWEMADN LAKENREFFN DLDLLMGPVT 1200
LHSSMEHLVQ YSQQGLHWLR NSAHLS 1226
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

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. VSP_041120

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti87 – 871S → T in AAA98763. 1 Publication
Sequence conflicti421 – 4211S → T in AAA98763. 1 Publication
Sequence conflicti1030 – 10301T → YL in AAA98763. 1 Publication
Sequence conflicti1120 – 11201M → I in AAA98763. 1 Publication
Sequence conflicti1125 – 11273SPA → FPG in AAA98763. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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. [P51826-1]
ENST00000356421; ENSP00000348793; ENSG00000144218. [P51826-2]
ENST00000409236; ENSP00000387207; ENSG00000144218. [P51826-1]
ENST00000409579; ENSP00000386834; ENSG00000144218. [P51826-2]
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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS33258.1. [P51826-2 ]
CCDS42723.1. [P51826-1 ]
RefSeqi NP_001020279.1. NM_001025108.1.
NP_002276.2. NM_002285.2.
XP_005264000.2. XM_005263943.2.
UniGenei Hs.444414.

3D structure databases

ProteinModelPortali P51826.
SMRi P51826. Positions 23-83.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110096. 2 interactions.
IntActi P51826. 1 interaction.
STRINGi 9606.ENSP00000348793.

PTM databases

PhosphoSitei P51826.

Polymorphism databases

DMDMi 126302515.

Proteomic databases

MaxQBi P51826.
PaxDbi P51826.
PRIDEi P51826.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000317233 ; ENSP00000317421 ; ENSG00000144218 . [P51826-1 ]
ENST00000356421 ; ENSP00000348793 ; ENSG00000144218 . [P51826-2 ]
ENST00000409236 ; ENSP00000387207 ; ENSG00000144218 . [P51826-1 ]
ENST00000409579 ; ENSP00000386834 ; ENSG00000144218 . [P51826-2 ]
GeneIDi 3899.
KEGGi hsa:3899.
UCSCi uc002taf.3. human. [P51826-2 ]
uc002tag.3. human. [P51826-1 ]

Organism-specific databases

CTDi 3899.
GeneCardsi GC02M100163.
HGNCi HGNC:6473. AFF3.
HPAi HPA044512.
MIMi 601464. gene.
neXtProti NX_P51826.
PharmGKBi PA30264.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG69292.
HOVERGENi HBG004189.
KOi K15195.
OMAi SVTCEKR.
OrthoDBi EOG767390.
PhylomeDBi P51826.
TreeFami TF326216.

Miscellaneous databases

ChiTaRSi AFF3. human.
GeneWikii AFF3.
GenomeRNAii 3899.
NextBioi 15311.
PROi P51826.
SOURCEi Search...

Gene expression databases

ArrayExpressi P51826.
Bgeei P51826.
CleanExi HS_AFF3.
Genevestigatori P51826.

Family and domain databases

InterProi IPR007797. TF_AF4/FMR2.
[Graphical view ]
PANTHERi PTHR10528. PTHR10528. 1 hit.
Pfami PF05110. AF-4. 2 hits.
[Graphical view ]
ProtoNeti Search...

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: July 9, 2014
This is version 111 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

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