UniProtKB - P51826 (AFF3_HUMAN)
Protein
AF4/FMR2 family member 3
Gene
AFF3
Organism
Homo sapiens (Human)
Status
Functioni
Putative transcription activator that may function in lymphoid development and oncogenesis. Binds, in vitro, to double-stranded DNA.
GO - Molecular functioni
- double-stranded DNA binding Source: BHF-UCL
GO - Biological processi
- embryonic hindlimb morphogenesis Source: BHF-UCL
- regulation of gene expression Source: GO_Central
- response to tumor necrosis factor Source: BHF-UCL
Keywordsi
Molecular function | Activator, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | P51826 |
SIGNORi | P51826 |
Names & Taxonomyi
Protein namesi | Recommended name: AF4/FMR2 family member 3Alternative name(s): Lymphoid nuclear protein related to AF4 Short name: Protein LAF-4 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000144218.18 |
HGNCi | HGNC:6473, AFF3 |
MIMi | 601464, gene |
neXtProti | NX_P51826 |
Subcellular locationi
Nucleus
Cytosol
- cytosol Source: HPA
Nucleus
- nuclear body Source: HPA
- nucleoplasm Source: HPA
- nucleus Source: BHF-UCL
- super elongation complex Source: GO_Central
- transcription elongation factor complex Source: GO_Central
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 3899 |
OpenTargetsi | ENSG00000144218 |
PharmGKBi | PA30264 |
Miscellaneous databases
Pharosi | P51826, Tbio |
Polymorphism and mutation databases
BioMutai | AFF3 |
DMDMi | 126302515 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000215916 | 1 – 1226 | AF4/FMR2 family member 3Add BLAST | 1226 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 755 | PhosphoserineCombined sources | 1 | |
Modified residuei | 881 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
jPOSTi | P51826 |
MassIVEi | P51826 |
PaxDbi | P51826 |
PeptideAtlasi | P51826 |
PRIDEi | P51826 |
ProteomicsDBi | 56428 [P51826-1] 56429 [P51826-2] |
PTM databases
iPTMneti | P51826 |
PhosphoSitePlusi | P51826 |
Expressioni
Tissue specificityi
Preferentially expressed in lymphoid tissues, highest levels being found in the thymus.
Gene expression databases
Bgeei | ENSG00000144218, Expressed in neocortex and 210 other tissues |
ExpressionAtlasi | P51826, baseline and differential |
Genevisiblei | P51826, HS |
Organism-specific databases
HPAi | ENSG00000144218, Tissue enhanced (lymphoid) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 110096, 7 interactors |
IntActi | P51826, 5 interactors |
STRINGi | 9606.ENSP00000386834 |
Miscellaneous databases
RNActi | P51826, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 413 – 419 | Poly-Ser | 7 | |
Compositional biasi | 422 – 432 | Poly-SerAdd BLAST | 11 | |
Compositional biasi | 440 – 445 | Poly-Ser | 6 | |
Compositional biasi | 670 – 679 | Poly-Ser | 10 |
Sequence similaritiesi
Belongs to the AF4 family.Curated
Phylogenomic databases
eggNOGi | ENOG502QU9C, Eukaryota |
GeneTreei | ENSGT00950000182974 |
HOGENOMi | CLU_006484_1_1_1 |
InParanoidi | P51826 |
OMAi | HKAENQL |
OrthoDBi | 558558at2759 |
PhylomeDBi | P51826 |
TreeFami | TF326216 |
Family and domain databases
InterProi | View protein in InterPro IPR007797, AF4/FMR2 IPR043640, AF4/FMR2_CHD IPR043639, AF4_int |
PANTHERi | PTHR10528, PTHR10528, 1 hit |
Pfami | View protein in Pfam PF18876, AF-4_C, 1 hit PF18875, AF4_int, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 16 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: P51826-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
AEPESPDNGT 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
Computationally mapped potential isoform sequencesi
There are 16 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH7C4C2 | H7C4C2_HUMAN | AF4/FMR2 family member 3 | AFF3 | 580 | Annotation score: | ||
C9JUC4 | C9JUC4_HUMAN | AF4/FMR2 family member 3 | AFF3 | 103 | Annotation score: | ||
C9J622 | C9J622_HUMAN | AF4/FMR2 family member 3 | AFF3 | 161 | Annotation score: | ||
H7C3W3 | H7C3W3_HUMAN | AF4/FMR2 family member 3 | AFF3 | 179 | Annotation score: | ||
C9J847 | C9J847_HUMAN | AF4/FMR2 family member 3 | AFF3 | 114 | Annotation score: | ||
C9JC67 | C9JC67_HUMAN | AF4/FMR2 family member 3 | AFF3 | 165 | Annotation score: | ||
C9JMS1 | C9JMS1_HUMAN | AF4/FMR2 family member 3 | AFF3 | 99 | Annotation score: | ||
C9JZ66 | C9JZ66_HUMAN | AF4/FMR2 family member 3 | AFF3 | 128 | Annotation score: | ||
A0A5F9ZHH7 | A0A5F9ZHH7_HUMAN | AF4/FMR2 family member 3 | AFF3 | 379 | Annotation score: | ||
A0A5F9ZHU9 | A0A5F9ZHU9_HUMAN | AF4/FMR2 family member 3 | AFF3 | 143 | Annotation score: | ||
There are more potential isoformsShow all |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 87 | S → T in AAA98763 (PubMed:8555498).Curated | 1 | |
Sequence conflicti | 421 | S → T in AAA98763 (PubMed:8555498).Curated | 1 | |
Sequence conflicti | 1030 | T → YL in AAA98763 (PubMed:8555498).Curated | 1 | |
Sequence conflicti | 1120 | M → I in AAA98763 (PubMed:8555498).Curated | 1 | |
Sequence conflicti | 1125 – 1127 | SPA → FPG in AAA98763 (PubMed:8555498).Curated | 3 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_030805 | 358 | N → S. Corresponds to variant dbSNP:rs4851223Ensembl. | 1 | |
Natural variantiVAR_030806 | 494 | N → S. Corresponds to variant dbSNP:rs1047265Ensembl. | 1 | |
Natural variantiVAR_080758 | 1215 | G → V Found in a consanguineous family with intellectual disability; unknown pathological significance. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_041120 | 18 | C → WGEDILNQRNDSLVVEFQSS ASRCRS in isoform 2. 1 Publication | 1 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000317233; ENSP00000317421; ENSG00000144218 [P51826-1] ENST00000409236; ENSP00000387207; ENSG00000144218 [P51826-1] ENST00000409579; ENSP00000386834; ENSG00000144218 [P51826-2] ENST00000672756; ENSP00000500419; ENSG00000144218 [P51826-1] |
GeneIDi | 3899 |
KEGGi | hsa:3899 |
UCSCi | uc002tag.4, human [P51826-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
3D structure databases
SMRi | P51826 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110096, 7 interactors |
IntActi | P51826, 5 interactors |
STRINGi | 9606.ENSP00000386834 |
PTM databases
iPTMneti | P51826 |
PhosphoSitePlusi | P51826 |
Polymorphism and mutation databases
BioMutai | AFF3 |
DMDMi | 126302515 |
Proteomic databases
jPOSTi | P51826 |
MassIVEi | P51826 |
PaxDbi | P51826 |
PeptideAtlasi | P51826 |
PRIDEi | P51826 |
ProteomicsDBi | 56428 [P51826-1] 56429 [P51826-2] |
Protocols and materials databases
Antibodypediai | 32831, 58 antibodies |
Genome annotation databases
Ensembli | ENST00000317233; ENSP00000317421; ENSG00000144218 [P51826-1] ENST00000409236; ENSP00000387207; ENSG00000144218 [P51826-1] ENST00000409579; ENSP00000386834; ENSG00000144218 [P51826-2] ENST00000672756; ENSP00000500419; ENSG00000144218 [P51826-1] |
GeneIDi | 3899 |
KEGGi | hsa:3899 |
UCSCi | uc002tag.4, human [P51826-1] |
Organism-specific databases
CTDi | 3899 |
DisGeNETi | 3899 |
EuPathDBi | HostDB:ENSG00000144218.18 |
GeneCardsi | AFF3 |
HGNCi | HGNC:6473, AFF3 |
HPAi | ENSG00000144218, Tissue enhanced (lymphoid) |
MIMi | 601464, gene |
neXtProti | NX_P51826 |
OpenTargetsi | ENSG00000144218 |
PharmGKBi | PA30264 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QU9C, Eukaryota |
GeneTreei | ENSGT00950000182974 |
HOGENOMi | CLU_006484_1_1_1 |
InParanoidi | P51826 |
OMAi | HKAENQL |
OrthoDBi | 558558at2759 |
PhylomeDBi | P51826 |
TreeFami | TF326216 |
Enzyme and pathway databases
PathwayCommonsi | P51826 |
SIGNORi | P51826 |
Miscellaneous databases
BioGRID-ORCSi | 3899, 6 hits in 844 CRISPR screens |
ChiTaRSi | AFF3, human |
GeneWikii | AFF3 |
GenomeRNAii | 3899 |
Pharosi | P51826, Tbio |
PROi | PR:P51826 |
RNActi | P51826, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000144218, Expressed in neocortex and 210 other tissues |
ExpressionAtlasi | P51826, baseline and differential |
Genevisiblei | P51826, HS |
Family and domain databases
InterProi | View protein in InterPro IPR007797, AF4/FMR2 IPR043640, AF4/FMR2_CHD IPR043639, AF4_int |
PANTHERi | PTHR10528, PTHR10528, 1 hit |
Pfami | View protein in Pfam PF18876, AF-4_C, 1 hit PF18875, AF4_int, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | AFF3_HUMAN | |
Accessioni | P51826Primary (citable) accession number: P51826 Secondary accession number(s): B7ZM46 Q8IWJ5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | September 12, 2018 | |
Last modified: | December 2, 2020 | |
This is version 154 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations