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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

GO - Biological processi

<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

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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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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

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HGNCi
HGNC:6473 AFF3

Online Mendelian Inheritance in Man (OMIM)

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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)

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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

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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

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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

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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

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EMBLi

GenBank nucleotide sequence database

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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

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

Database of genes from NCBI RefSeq genomes

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GeneIDi
3899

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3899

UCSC genome browser

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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

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CTDi
3899
DisGeNETi3899

GeneCards: human genes, protein and diseases

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

GenAtlas: human gene database

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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

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ChiTaRSi
AFF3 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
AFF3

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

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GenomeRNAii
3899
PharosiP51826

Protein Ontology

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PROi
PR:P51826

The Stanford Online Universal Resource for Clones and ESTs

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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

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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
UniProt is an ELIXIR core data resource
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