Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P51826

- AFF3_HUMAN

UniProt

P51826 - AFF3_HUMAN

Protein

AF4/FMR2 family member 3

Gene

AFF3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 112 (01 Oct 2014)
      Sequence version 2 (20 Feb 2007)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    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

    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.
    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.
    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

    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:
    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]
    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 ]
    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

    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: October 1, 2014
    This is version 112 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