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Protein

AF4/FMR2 family member 3

Gene

AFF3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • DNA-binding transcription factor activity Source: GO_Central
  • double-stranded DNA binding Source: BHF-UCL

GO - Biological processi

  • embryonic hindlimb morphogenesis Source: BHF-UCL
  • response to tumor necrosis factor Source: BHF-UCL

Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

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:AFF31 PublicationImported
Synonyms:LAF4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000144218.18
HGNCiHGNC:6473 AFF3
MIMi601464 gene
neXtProtiNX_P51826

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi3899
OpenTargetsiENSG00000144218
PharmGKBiPA30264

Polymorphism and mutation databases

BioMutaiAFF3
DMDMi126302515

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002159161 – 1226AF4/FMR2 family member 3Add BLAST1226

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei755PhosphoserineCombined sources1
Modified residuei881PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP51826
PaxDbiP51826
PeptideAtlasiP51826
PRIDEiP51826
ProteomicsDBi56428
56429 [P51826-2]

PTM databases

iPTMnetiP51826
PhosphoSitePlusiP51826

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000144218 Expressed in 192 organ(s), highest expression level in neocortex
CleanExiHS_AFF3
ExpressionAtlasiP51826 baseline and differential
GenevisibleiP51826 HS

Organism-specific databases

HPAiHPA044512
HPA053379

Interactioni

Protein-protein interaction databases

BioGridi110096, 4 interactors
IntActiP51826, 1 interactor
STRINGi9606.ENSP00000348793

Structurei

3D structure databases

ProteinModelPortaliP51826
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi413 – 419Poly-Ser7
Compositional biasi422 – 432Poly-SerAdd BLAST11
Compositional biasi440 – 445Poly-Ser6
Compositional biasi670 – 679Poly-Ser10

Sequence similaritiesi

Belongs to the AF4 family.Curated

Phylogenomic databases

eggNOGiENOG410IGJB Eukaryota
ENOG410XRXU LUCA
GeneTreeiENSGT00530000063217
HOVERGENiHBG004189
InParanoidiP51826
KOiK15195
OrthoDBiEOG091G0KKW
PhylomeDBiP51826
TreeFamiTF326216

Family and domain databases

InterProiView protein in InterPro
IPR007797 TF_AF4/FMR2
PANTHERiPTHR10528 PTHR10528, 1 hit
PfamiView protein in Pfam
PF05110 AF-4, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 10 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 '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
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
Length:1,226
Mass (Da):133,503
Last modified:September 12, 2018 - v3
Checksum:iBD2D90358609E156
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):136,379
Checksum:iF514E60D22409B45
GO

Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C3W3H7C3W3_HUMAN
AF4/FMR2 family member 3
AFF3
179Annotation score:
C9JUC4C9JUC4_HUMAN
AF4/FMR2 family member 3
AFF3
155Annotation score:
H7C4C2H7C4C2_HUMAN
AF4/FMR2 family member 3
AFF3
185Annotation score:
C9J847C9J847_HUMAN
AF4/FMR2 family member 3
AFF3
114Annotation score:
C9JMS1C9JMS1_HUMAN
AF4/FMR2 family member 3
AFF3
99Annotation score:
C9JZ66C9JZ66_HUMAN
AF4/FMR2 family member 3
AFF3
128Annotation score:
C9JC67C9JC67_HUMAN
AF4/FMR2 family member 3
AFF3
155Annotation score:
C9J622C9J622_HUMAN
AF4/FMR2 family member 3
AFF3
161Annotation score:
C9JUY1C9JUY1_HUMAN
AF4/FMR2 family member 3
AFF3
183Annotation score:
C9JIB1C9JIB1_HUMAN
AF4/FMR2 family member 3
AFF3
17Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti87S → T in AAA98763 (PubMed:8555498).Curated1
Sequence conflicti421S → T in AAA98763 (PubMed:8555498).Curated1
Sequence conflicti1030T → YL in AAA98763 (PubMed:8555498).Curated1
Sequence conflicti1120M → I in AAA98763 (PubMed:8555498).Curated1
Sequence conflicti1125 – 1127SPA → FPG in AAA98763 (PubMed:8555498).Curated3

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030805358N → S. Corresponds to variant dbSNP:rs4851223Ensembl.1
Natural variantiVAR_030806494N → S. Corresponds to variant dbSNP:rs1047265Ensembl.1
Natural variantiVAR_0807581215G → V Found in a consanguineous family with intellectual disability; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04112018C → WGEDILNQRNDSLVVEFQSS ASRCRS in isoform 2. 1 Publication1

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 [P51826-2]
NP_002276.2, NM_002285.2 [P51826-1]
XP_005264000.2, XM_005263943.3 [P51826-1]
XP_011509475.1, XM_011511173.2 [P51826-2]
XP_011509476.1, XM_011511174.2 [P51826-2]
XP_011509477.1, XM_011511175.2 [P51826-1]
XP_011509478.1, XM_011511176.2 [P51826-1]
XP_011509479.1, XM_011511177.2 [P51826-1]
UniGeneiHs.444414

Genome annotation databases

EnsembliENST00000317233; ENSP00000317421; ENSG00000144218 [P51826-1]
ENST00000409236; ENSP00000387207; ENSG00000144218 [P51826-1]
ENST00000409579; ENSP00000386834; ENSG00000144218 [P51826-2]
GeneIDi3899
KEGGihsa:3899
UCSCiuc002tag.4 human [P51826-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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 [P51826-2]
NP_002276.2, NM_002285.2 [P51826-1]
XP_005264000.2, XM_005263943.3 [P51826-1]
XP_011509475.1, XM_011511173.2 [P51826-2]
XP_011509476.1, XM_011511174.2 [P51826-2]
XP_011509477.1, XM_011511175.2 [P51826-1]
XP_011509478.1, XM_011511176.2 [P51826-1]
XP_011509479.1, XM_011511177.2 [P51826-1]
UniGeneiHs.444414

3D structure databases

ProteinModelPortaliP51826
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110096, 4 interactors
IntActiP51826, 1 interactor
STRINGi9606.ENSP00000348793

PTM databases

iPTMnetiP51826
PhosphoSitePlusiP51826

Polymorphism and mutation databases

BioMutaiAFF3
DMDMi126302515

Proteomic databases

MaxQBiP51826
PaxDbiP51826
PeptideAtlasiP51826
PRIDEiP51826
ProteomicsDBi56428
56429 [P51826-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317233; ENSP00000317421; ENSG00000144218 [P51826-1]
ENST00000409236; ENSP00000387207; ENSG00000144218 [P51826-1]
ENST00000409579; ENSP00000386834; ENSG00000144218 [P51826-2]
GeneIDi3899
KEGGihsa:3899
UCSCiuc002tag.4 human [P51826-1]

Organism-specific databases

CTDi3899
DisGeNETi3899
EuPathDBiHostDB:ENSG00000144218.18
GeneCardsiAFF3
HGNCiHGNC:6473 AFF3
HPAiHPA044512
HPA053379
MIMi601464 gene
neXtProtiNX_P51826
OpenTargetsiENSG00000144218
PharmGKBiPA30264
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGJB Eukaryota
ENOG410XRXU LUCA
GeneTreeiENSGT00530000063217
HOVERGENiHBG004189
InParanoidiP51826
KOiK15195
OrthoDBiEOG091G0KKW
PhylomeDBiP51826
TreeFamiTF326216

Miscellaneous databases

ChiTaRSiAFF3 human
GeneWikiiAFF3
GenomeRNAii3899
PROiPR:P51826
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000144218 Expressed in 192 organ(s), highest expression level in neocortex
CleanExiHS_AFF3
ExpressionAtlasiP51826 baseline and differential
GenevisibleiP51826 HS

Family and domain databases

InterProiView protein in InterPro
IPR007797 TF_AF4/FMR2
PANTHERiPTHR10528 PTHR10528, 1 hit
PfamiView protein in Pfam
PF05110 AF-4, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiAFF3_HUMAN
AccessioniPrimary (citable) accession number: P51826
Secondary accession number(s): B7ZM46
, B9EGL9, D3DVI6, Q53RD6, Q53S47, Q53SI6, Q53TB9, Q59F27, Q8IWJ5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: September 12, 2018
Last modified: November 7, 2018
This is version 138 of the entry and version 3 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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