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Entry version 6 (07 Apr 2021)
Sequence version 1 (17 Jun 2020)
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Protein
Submitted name:

AF4/FMR2 family member 1

Gene

AFF1

Organism
Homo sapiens (Human)
Status
Unreviewed-Annotation 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 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

<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 - Biological processi

<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%5Fand%5Ftaxonomy%5Fsection">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
Submitted name:
AF4/FMR2 family member 1Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:AFF1Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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)Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 4

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7135, AFF1

<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

<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>Keywords - Cellular componenti

NucleusARBA annotation

<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

Open Targets

More...
OpenTargetsi
ENSG00000172493

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini953 – 1075AF-4_CInterPro annotationAdd BLAST123

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni80 – 321DisorderedSequence analysisAdd BLAST242
Regioni373 – 961DisorderedSequence analysisAdd BLAST589

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 biasi106 – 142PolarSequence analysisAdd BLAST37
Compositional biasi175 – 198PolyampholyteSequence analysisAdd BLAST24
Compositional biasi220 – 248PolarSequence analysisAdd BLAST29
Compositional biasi378 – 433PolarSequence analysisAdd BLAST56
Compositional biasi466 – 493PolarSequence analysisAdd BLAST28
Compositional biasi592 – 612PolarSequence analysisAdd BLAST21
Compositional biasi717 – 735PolarSequence analysisAdd BLAST19
Compositional biasi788 – 840PolyampholyteSequence analysisAdd BLAST53
Compositional biasi841 – 883PolarSequence analysisAdd BLAST43
Compositional biasi913 – 932PolyampholyteSequence analysisAdd BLAST20
Compositional biasi933 – 948PolarSequence analysisAdd BLAST16

<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.ARBA annotation

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000182974

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR007797, AF4/FMR2
IPR043640, AF4/FMR2_CHD
IPR043639, AF4_int

The PANTHER Classification System

More...
PANTHERi
PTHR10528, PTHR10528, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF18876, AF-4_C, 1 hit
PF18875, AF4_int, 1 hit

<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%5Flength">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>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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: Fragment.

This entry has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All

A0A669KBI3-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAFTERVNSS GNSLYNDDRN LLRIREKERR NQEAHQEKEA FPEKIPLFGE
60 70 80 90 100
PYKTAKGDEL SSRIQNMLGN YEEVKEFLST KSHTHRLDAS ENRLGKPKYP
110 120 130 140 150
LIPDKGSSIP SSSFHTSVHH QSIHTPASGP LSVGNISHNP KMAQPRTEPM
160 170 180 190 200
PSLHAKSCGP PDSQHLTQDR LGQEGFGSSH HKKGDRRADG DHCASVTDSA
210 220 230 240 250
PERELSPLIS LPSPVPPLSP IHSNQQTLPR TQGSSKVHGS SNNSKGYCPA
260 270 280 290 300
KSPKDLAVKV HDKETPQDSL VAPAQPPSQT FPPPSLPSKS VAMQQKPTAY
310 320 330 340 350
VRPMDGQDQA PSESPELKPL PEDYRQQTFE KTDLKVPAKA KLTKLKMPSQ
360 370 380 390 400
SVEQTYSNEV HCVEEILKEM THSWPPPLTA IHTPSTAEPS KFPFPTKDSQ
410 420 430 440 450
HVSSVTQNQK QYDTSSKTHS NSQQGTSSML EDDLQLSDSE DSDSEQTPEK
460 470 480 490 500
PPSSSAPPSA PQSLPEPVAS AHSSSAESES TSDSDSSSDS ESESSSSDSE
510 520 530 540 550
ENEPLETPAP EPEPPTTNKW QLDNWLTKVS QPAAPPEGPR STEPPRRHPE
560 570 580 590 600
SKGSSDSATS QEHSESKDPP PKSSSKAPRA PPEAPHPGKR SCQKSPAQQE
610 620 630 640 650
PPQRQTVGTK QPKKPVKASA RAGSRTSLQG EREPGLLPYG SRDQTSKDKP
660 670 680 690 700
KVKTKGRPRA AASNEPKPAV PPSSEKKKHK SSLPAPSKAL SGPEPAKDNV
710 720 730 740 750
EDRTPEHFAL VPLTESQGPP HSGSGSRTSG CRQAVVVQED SRKDRLPLPL
760 770 780 790 800
RDTKLLSPLR DTPPPQSLMV KITLDLLSRI PQPPGKGSRQ RKAEDKQPPA
810 820 830 840 850
GKKHSSEKRS SDSSSKLAKK RKGEAERDCD NKKIRLEKEI KSQSSSSSSS
860 870 880 890 900
HKESSKTKPS SQSSKKEMLP PPPVSSSSQK PAKPALKRSR READTCGQDP
910 920 930 940 950
PKSASSTKSN HKDSSIPKQR RVEGKGSRSS SEHKGSSGDT ANPFPVPSLP
960 970 980 990 1000
NGNSKPGKPQ VKFDKQQADL HMREAKKMKQ KAELMTDRVG KAFKYLEAVL
1010 1020 1030 1040 1050
SFIECGIATE SESQSSKSAY SVYSETVDLI KFIMSLKSFS DATAPTQEKI
1060 1070
FAVLCMRCQS ILNMAMFRCK KDIAI
Length:1,075
Mass (Da):117,151
Last modified:June 17, 2020 - v1
<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:i8AC1B9FB6FA5BD41
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
P51825AFF1_HUMAN
AF4/FMR2 family member 1
AFF1 AF4, FEL, MLLT2, PBM1
1,210Annotation 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>
F5GXF9F5GXF9_HUMAN
AF4/FMR2 family member 1
AFF1
1,205Annotation 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>
E7ETI4E7ETI4_HUMAN
AF4/FMR2 family member 1
AFF1
406Annotation 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>
H0Y9S4H0Y9S4_HUMAN
AF4/FMR2 family member 1
AFF1
194Annotation 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>
D6RAU0D6RAU0_HUMAN
AF4/FMR2 family member 1
AFF1
137Annotation 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>
D6RIZ5D6RIZ5_HUMAN
AF4/FMR2 family member 1
AFF1
52Annotation 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>
E7EMC5E7EMC5_HUMAN
AF4/FMR2 family member 1
AFF1
417Annotation 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 is used for sequence fragments to indicate that the residue at the extremity of the sequence is not the actual terminal residue in the complete protein sequence.<p><a href='/help/non_ter' target='_top'>More...</a></p>Non-terminal residuei1075Imported1

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
AC092658 Genomic DNA No translation available.
AC093779 Genomic DNA No translation available.
AC093827 Genomic DNA No translation available.

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000674009; ENSP00000501252; ENSG00000172493

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC092658 Genomic DNA No translation available.
AC093779 Genomic DNA No translation available.
AC093827 Genomic DNA No translation available.

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Genome annotation databases

EnsembliENST00000674009; ENSP00000501252; ENSG00000172493

Organism-specific databases

HGNCiHGNC:7135, AFF1
OpenTargetsiENSG00000172493

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00950000182974

Family and domain databases

InterProiView protein in InterPro
IPR007797, AF4/FMR2
IPR043640, AF4/FMR2_CHD
IPR043639, AF4_int
PANTHERiPTHR10528, PTHR10528, 1 hit
PfamiView protein in Pfam
PF18876, AF-4_C, 1 hit
PF18875, AF4_int, 1 hit

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 nameiA0A669KBI3_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: A0A669KBI3
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/TrEMBL: June 17, 2020
Last sequence update: June 17, 2020
Last modified: April 7, 2021
This is version 6 of the entry and version 1 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 statusiUnreviewed (UniProtKB/TrEMBL)
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

Proteomics identificationCombined sources, Reference proteomeImported
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