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UniProtKB - P51826 (AFF3_HUMAN)

Entry version 147 (16 Oct 2019)
Sequence version 3 (12 Sep 2018)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • DNA-binding transcription factor activity Source: GO_Central
  • double-stranded DNA binding Source: BHF-UCL
Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...SIGNORi		P51826

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
AF4/FMR2 family member 3
Alternative name(s):
Lymphoid nuclear protein related to AF4
Short name:
Protein LAF-4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AFF31 PublicationImported
Synonyms:LAF4
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:6473 AFF3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601464 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P51826

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		3899

Open Targets

More...OpenTargetsi		ENSG00000144218

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30264

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P51826

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		AFF3

Domain mapping of disease mutations (DMDM)

More...DMDMi		126302515

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002159161 – 1226AF4/FMR2 family member 3Add BLAST1226

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei755PhosphoserineCombined sources1
Modified residuei881PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P51826

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P51826

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P51826

PeptideAtlas

More...PeptideAtlasi		P51826

PRoteomics IDEntifications database

More...PRIDEi		P51826

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		56428 [P51826-1]
56429 [P51826-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P51826

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P51826

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000144218 Expressed in 192 organ(s), highest expression level in neocortex

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P51826 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P51826 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA044512
HPA053379

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		110096, 5 interactors

Protein interaction database and analysis system

More...IntActi		P51826, 5 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000386834

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P51826

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi413 – 419Poly-Ser7
Compositional biasi422 – 432Poly-SerAdd BLAST11
Compositional biasi440 – 445Poly-Ser6
Compositional biasi670 – 679Poly-Ser10

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the AF4 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IGJB Eukaryota
ENOG410XRXU LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182974

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P51826

KEGG Orthology (KO)

More...KOi		K15195

Identification of Orthologs from Complete Genome Data

More...OMAi		HKAENQL

Database of Orthologous Groups

More...OrthoDBi		558558at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P51826

TreeFam database of animal gene trees

More...TreeFami		TF326216

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR007797 TF_AF4/FMR2

The PANTHER Classification System

More...PANTHERi		PTHR10528 PTHR10528, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF05110 AF-4, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JUC4C9JUC4_HUMAN
AF4/FMR2 family member 3
AFF3
155Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C3W3H7C3W3_HUMAN
AF4/FMR2 family member 3
AFF3
179Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J622C9J622_HUMAN
AF4/FMR2 family member 3
AFF3
161Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J847C9J847_HUMAN
AF4/FMR2 family member 3
AFF3
114Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JC67C9JC67_HUMAN
AF4/FMR2 family member 3
AFF3
155Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JMS1C9JMS1_HUMAN
AF4/FMR2 family member 3
AFF3
99Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JZ66C9JZ66_HUMAN
AF4/FMR2 family member 3
AFF3
128Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C4C2H7C4C2_HUMAN
AF4/FMR2 family member 3
AFF3
185Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JUY1C9JUY1_HUMAN
AF4/FMR2 family member 3
AFF3
183Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JIB1C9JIB1_HUMAN
AF4/FMR2 family member 3
AFF3
17Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04112018C → WGEDILNQRNDSLVVEFQSS ASRCRS in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS33258.1 [P51826-2]
CCDS42723.1 [P51826-1]

NCBI Reference Sequences

More...RefSeqi		NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000317233; ENSP00000317421; ENSG00000144218 [P51826-1]
ENST00000409236; ENSP00000387207; ENSG00000144218 [P51826-1]
ENST00000409579; ENSP00000386834; ENSG00000144218 [P51826-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3899

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3899

UCSC genome browser

More...UCSCi		uc002tag.4 human [P51826-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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]

3D structure databases

SMRiP51826
ModBaseiSearch...

Protein-protein interaction databases

BioGridi110096, 5 interactors
IntActiP51826, 5 interactors
STRINGi9606.ENSP00000386834

PTM databases

iPTMnetiP51826
PhosphoSitePlusiP51826

Polymorphism and mutation databases

BioMutaiAFF3
DMDMi126302515

Proteomic databases

jPOSTiP51826
MassIVEiP51826
PaxDbiP51826
PeptideAtlasiP51826
PRIDEiP51826
ProteomicsDBi56428 [P51826-1]
56429 [P51826-2]

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

Comparative Toxicogenomics Database

More...CTDi		3899
DisGeNETi3899

GeneCards: human genes, protein and diseases

More...GeneCardsi		AFF3
HGNCiHGNC:6473 AFF3
HPAiHPA044512
HPA053379
MIMi601464 gene
neXtProtiNX_P51826
OpenTargetsiENSG00000144218
PharmGKBiPA30264

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IGJB Eukaryota
ENOG410XRXU LUCA
GeneTreeiENSGT00950000182974
InParanoidiP51826
KOiK15195
OMAiHKAENQL
OrthoDBi558558at2759
PhylomeDBiP51826
TreeFamiTF326216

Enzyme and pathway databases

SIGNORiP51826

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		AFF3 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		AFF3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		3899
PharosiP51826

Protein Ontology

More...PROi		PR:P51826

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000144218 Expressed in 192 organ(s), highest expression level in neocortex
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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAFF3_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P51826
Secondary accession number(s): B7ZM46
, B9EGL9, D3DVI6, Q53RD6, Q53S47, Q53SI6, Q53TB9, Q59F27, Q8IWJ5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: September 12, 2018
Last modified: October 16, 2019
This is version 147 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  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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