We will be switching to the new UniProt website soon. Please explore and share your feedback.
Take me to the new website.
UniProtKB - P55198 (AF17_HUMAN)
Protein
Protein AF-17
Gene
MLLT6
Organism
Homo sapiens (Human)
Status
Functioni
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 551 | KMT2A/MLL1 fusion point (in acute myeloid leukemia patient) | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 5 – 57 | PHD-type 1PROSITE-ProRule annotationAdd BLAST | 53 | |
Zinc fingeri | 62 – 95 | C2HC pre-PHD-typePROSITE-ProRule annotationAdd BLAST | 34 | |
Zinc fingeri | 118 – 181 | PHD-type 2PROSITE-ProRule annotationAdd BLAST | 64 |
GO - Molecular functioni
- histone binding Source: UniProtKB
- metal ion binding Source: UniProtKB-KW
- nucleosome binding Source: UniProtKB
GO - Biological processi
- negative regulation of histone H3-K79 methylation Source: Ensembl
- negative regulation of urine volume Source: Ensembl
- positive regulation of sodium ion transport Source: Ensembl
- positive regulation of transcription by RNA polymerase II Source: GO_Central
- regulation of transcription, DNA-templated Source: ProtInc
- renal potassium excretion Source: Ensembl
- renal sodium excretion Source: Ensembl
Keywordsi
Ligand | Metal-binding, Zinc |
Enzyme and pathway databases
PathwayCommonsi | P55198 |
SignaLinki | P55198 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein AF-17Alternative name(s): ALL1-fused gene from chromosome 17 protein |
Gene namesi | Name:MLLT6 Synonyms:AF17 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:7138, MLLT6 |
MIMi | 600328, gene |
neXtProti | NX_P55198 |
VEuPathDBi | HostDB:ENSG00000275023 |
Subcellular locationi
Nucleus
- Nucleus Curated
Nucleus
- nucleus Source: GO_Central
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
A chromosomal aberration involving MLLT6 is associated with acute leukemias. Translocation t(11;17)(q23;q21) with KMT2A/MLL1. The result is a rogue activator protein.
Keywords - Diseasei
Proto-oncogeneOrganism-specific databases
DisGeNETi | 4302 |
MalaCardsi | MLLT6 |
OpenTargetsi | ENSG00000275023 |
PharmGKBi | PA30854 |
Miscellaneous databases
Pharosi | P55198, Tdark |
Genetic variation databases
BioMutai | MLLT6 |
DMDMi | 215273929 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000215937 | 1 – 1093 | Protein AF-17Add BLAST | 1093 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 258 | PhosphoserineCombined sources | 1 | |
Modified residuei | 378 | PhosphoserineCombined sources | 1 | |
Modified residuei | 423 | PhosphoserineCombined sources | 1 | |
Modified residuei | 451 | PhosphothreonineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | P55198 |
jPOSTi | P55198 |
MassIVEi | P55198 |
PaxDbi | P55198 |
PeptideAtlasi | P55198 |
PRIDEi | P55198 |
ProteomicsDBi | 56804 |
PTM databases
GlyGeni | P55198, 18 sites, 2 O-linked glycans (18 sites) |
iPTMneti | P55198 |
PhosphoSitePlusi | P55198 |
Expressioni
Gene expression databases
ExpressionAtlasi | P55198, baseline and differential |
Organism-specific databases
HPAi | ENSG00000275023, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with histone H3; interaction is necessary for MLLT6 binding to nucleosomes; interaction is inhibited by histone H3 'Lys-27' methylations (H3K27me1, H3K27me2 and H3K27me3).
1 PublicationBinary interactionsi
P55198
GO - Molecular functioni
- histone binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 110448, 79 interactors |
IntActi | P55198, 43 interactors |
STRINGi | 9606.ENSP00000479910 |
Miscellaneous databases
RNActi | P55198, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 185 – 500 | DisorderedSequence analysisAdd BLAST | 316 | |
Regioni | 729 – 764 | Leucine-zipperAdd BLAST | 36 | |
Regioni | 775 – 871 | DisorderedSequence analysisAdd BLAST | 97 | |
Regioni | 1060 – 1093 | DisorderedSequence analysisAdd BLAST | 34 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 228 – 242 | Basic and acidic residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 270 – 288 | Polar residuesSequence analysisAdd BLAST | 19 | |
Compositional biasi | 289 – 304 | Basic and acidic residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 316 – 357 | Polar residuesSequence analysisAdd BLAST | 42 | |
Compositional biasi | 374 – 388 | Pro residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 406 – 420 | Polar residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 785 – 836 | Polar residuesSequence analysisAdd BLAST | 52 | |
Compositional biasi | 850 – 864 | Pro residuesSequence analysisAdd BLAST | 15 |
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 5 – 57 | PHD-type 1PROSITE-ProRule annotationAdd BLAST | 53 | |
Zinc fingeri | 62 – 95 | C2HC pre-PHD-typePROSITE-ProRule annotationAdd BLAST | 34 | |
Zinc fingeri | 118 – 181 | PHD-type 2PROSITE-ProRule annotationAdd BLAST | 64 |
Keywords - Domaini
Repeat, Zinc-fingerPhylogenomic databases
eggNOGi | KOG0956, Eukaryota |
GeneTreei | ENSGT00940000158572 |
InParanoidi | P55198 |
OMAi | PACYGIV |
OrthoDBi | 327785at2759 |
PhylomeDBi | P55198 |
TreeFami | TF316118 |
Family and domain databases
Gene3Di | 3.30.40.10, 2 hits |
InterProi | View protein in InterPro IPR034732, EPHD IPR019786, Zinc_finger_PHD-type_CS IPR011011, Znf_FYVE_PHD IPR001965, Znf_PHD IPR019787, Znf_PHD-finger IPR013083, Znf_RING/FYVE/PHD |
SMARTi | View protein in SMART SM00249, PHD, 2 hits |
SUPFAMi | SSF57903, SSF57903, 1 hit |
PROSITEi | View protein in PROSITE PS51805, EPHD, 1 hit PS01359, ZF_PHD_1, 1 hit PS50016, ZF_PHD_2, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All
P55198-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MKEMVGGCCV CSDERGWAEN PLVYCDGHAC SVAVHQACYG IVQVPTGPWF
60 70 80 90 100
CRKCESQERA ARVRCELCPH KDGALKRTDN GGWAHVVCAL YIPEVQFANV
110 120 130 140 150
LTMEPIVLQY VPHDRFNKTC YICEEQGRES KAASGACMTC NRHGCRQAFH
160 170 180 190 200
VTCAQMAGLL CEEEVLEVDN VKYCGYCKYH FSKMKTSRHS SGGGGGGAGG
210 220 230 240 250
GGGSMGGGGS GFISGRRSRS ASPSTQQEKH PTHHERGQKK SRKDKERLKQ
260 270 280 290 300
KHKKRPESPP SILTPPVVPT ADKVSSSASS SSHHEASTQE TSESSRESKG
310 320 330 340 350
KKSSSHSLSH KGKKLSSGKG VSSFTSASSS SSSSSSSSGG PFQPAVSSLQ
360 370 380 390 400
SSPDFSAFPK LEQPEEDKYS KPTAPAPSAP PSPSAPEPPK ADLFEQKVVF
410 420 430 440 450
SGFGPIMRFS TTTSSSGRAR APSPGDYKSP HVTGSGASAG THKRMPALSA
460 470 480 490 500
TPVPADETPE TGLKEKKHKA SKRSRHGPGR PKGSRNKEGT GGPAAPSLPS
510 520 530 540 550
AQLAGFTATA ASPFSGGSLV SSGLGGLSSR TFGPSGSLPS LSLESPLLGA
560 570 580 590 600
GIYTSNKDPI SHSGGMLRAV CSTPLSSSLL GPPGTSALPR LSRSPFTSTL
610 620 630 640 650
PSSSASISTT QVFSLAGSTF SLPSTHIFGT PMGAVNPLLS QAESSHTEPD
660 670 680 690 700
LEDCSFRCRG TSPQESLSSM SPISSLPALF DQTASAPCGG GQLDPAAPGT
710 720 730 740 750
TNMEQLLEKQ GDGEAGVNIV EMLKALHALQ KENQRLQEQI LSLTAKKERL
760 770 780 790 800
QILNVQLSVP FPALPAALPA ANGPVPGPYG LPPQAGSSDS LSTSKSPPGK
810 820 830 840 850
SSLGLDNSLS TSSEDPHSGC PSRSSSSLSF HSTPPPLPLL QQSPATLPLA
860 870 880 890 900
LPGAPAPLPP QPQNGLGRAP GAAGLGAMPM AEGLLGGLAG SGGLPLNGLL
910 920 930 940 950
GGLNGAAAPN PASLSQAGGA PTLQLPGCLN SLTEQQRHLL QQQEQQLQQL
960 970 980 990 1000
QQLLASPQLT PEHQTVVYQM IQQIQQKREL QRLQMAGGSQ LPMASLLAGS
1010 1020 1030 1040 1050
STPLLSAGTP GLLPTASAPP LLPAGALVAP SLGNNTSLMA AAAAAAAVAA
1060 1070 1080 1090
AGGPPVLTAQ TNPFLSLSGA EGSGGGPKGG TADKGASANQ EKG
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ6P2C6 | Q6P2C6_HUMAN | MLLT6 protein | MLLT6 | 325 | Annotation score: | ||
A0A087WVY1 | A0A087WVY1_HUMAN | Protein AF-17 | MLLT6 | 302 | Annotation score: |
Sequence cautioni
The sequence AAH07237 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB15670 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 126 | Q → T in AAA21145 (PubMed:8058765).Curated | 1 | |
Sequence conflicti | 735 | R → W in BAD92870 (Ref. 3) Curated | 1 | |
Sequence conflicti | 1065 | L → P in BAB15670 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080170 | 33 | A → V. Corresponds to variant dbSNP:rs17855918Ensembl. | 1 | |
Natural variantiVAR_022076 | 198 | A → T. Corresponds to variant dbSNP:rs2241012Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U07932 mRNA Translation: AAA21145.1 AC006449 Genomic DNA No translation available. AB209633 mRNA Translation: BAD92870.1 AK027133 mRNA Translation: BAB15670.1 Different initiation. BC007237 mRNA Translation: AAH07237.1 Different initiation. AL133659 mRNA Translation: CAB63772.2 |
CCDSi | CCDS11327.1 |
PIRi | I38533 |
RefSeqi | NP_005928.2, NM_005937.3 |
Genome annotation databases
Ensembli | ENST00000618876; ENSP00000477969; ENSG00000275851 ENST00000621332; ENSP00000479910; ENSG00000275023 |
GeneIDi | 4302 |
KEGGi | hsa:4302 |
MANE-Selecti | ENST00000621332.5; ENSP00000479910.1; NM_005937.4; NP_005928.2 |
Keywords - Coding sequence diversityi
Chromosomal rearrangementSimilar 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 | U07932 mRNA Translation: AAA21145.1 AC006449 Genomic DNA No translation available. AB209633 mRNA Translation: BAD92870.1 AK027133 mRNA Translation: BAB15670.1 Different initiation. BC007237 mRNA Translation: AAH07237.1 Different initiation. AL133659 mRNA Translation: CAB63772.2 |
CCDSi | CCDS11327.1 |
PIRi | I38533 |
RefSeqi | NP_005928.2, NM_005937.3 |
3D structure databases
SMRi | P55198 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110448, 79 interactors |
IntActi | P55198, 43 interactors |
STRINGi | 9606.ENSP00000479910 |
PTM databases
GlyGeni | P55198, 18 sites, 2 O-linked glycans (18 sites) |
iPTMneti | P55198 |
PhosphoSitePlusi | P55198 |
Genetic variation databases
BioMutai | MLLT6 |
DMDMi | 215273929 |
Proteomic databases
EPDi | P55198 |
jPOSTi | P55198 |
MassIVEi | P55198 |
PaxDbi | P55198 |
PeptideAtlasi | P55198 |
PRIDEi | P55198 |
ProteomicsDBi | 56804 |
Protocols and materials databases
Antibodypediai | 73458, 110 antibodies from 18 providers |
DNASUi | 4302 |
Genome annotation databases
Ensembli | ENST00000618876; ENSP00000477969; ENSG00000275851 ENST00000621332; ENSP00000479910; ENSG00000275023 |
GeneIDi | 4302 |
KEGGi | hsa:4302 |
MANE-Selecti | ENST00000621332.5; ENSP00000479910.1; NM_005937.4; NP_005928.2 |
Organism-specific databases
CTDi | 4302 |
DisGeNETi | 4302 |
GeneCardsi | MLLT6 |
HGNCi | HGNC:7138, MLLT6 |
HPAi | ENSG00000275023, Low tissue specificity |
MalaCardsi | MLLT6 |
MIMi | 600328, gene |
neXtProti | NX_P55198 |
OpenTargetsi | ENSG00000275023 |
PharmGKBi | PA30854 |
VEuPathDBi | HostDB:ENSG00000275023 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0956, Eukaryota |
GeneTreei | ENSGT00940000158572 |
InParanoidi | P55198 |
OMAi | PACYGIV |
OrthoDBi | 327785at2759 |
PhylomeDBi | P55198 |
TreeFami | TF316118 |
Enzyme and pathway databases
PathwayCommonsi | P55198 |
SignaLinki | P55198 |
Miscellaneous databases
BioGRID-ORCSi | 4302, 24 hits in 1050 CRISPR screens |
ChiTaRSi | MLLT6, human |
GenomeRNAii | 4302 |
Pharosi | P55198, Tdark |
PROi | PR:P55198 |
RNActi | P55198, protein |
SOURCEi | Search... |
Gene expression databases
ExpressionAtlasi | P55198, baseline and differential |
Family and domain databases
Gene3Di | 3.30.40.10, 2 hits |
InterProi | View protein in InterPro IPR034732, EPHD IPR019786, Zinc_finger_PHD-type_CS IPR011011, Znf_FYVE_PHD IPR001965, Znf_PHD IPR019787, Znf_PHD-finger IPR013083, Znf_RING/FYVE/PHD |
SMARTi | View protein in SMART SM00249, PHD, 2 hits |
SUPFAMi | SSF57903, SSF57903, 1 hit |
PROSITEi | View protein in PROSITE PS51805, EPHD, 1 hit PS01359, ZF_PHD_1, 1 hit PS50016, ZF_PHD_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | AF17_HUMAN | |
Accessioni | P55198Primary (citable) accession number: P55198 Secondary accession number(s): Q59F28 Q9UF49 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | March 28, 2018 | |
Last modified: | February 23, 2022 | |
This is version 171 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot