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Protein

Protein AF-10

Gene

MLLT10

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Probably involved in transcriptional regulation. In vitro or as fusion protein with KMT2A/MLL1 has transactivation activity. Binds to cruciform DNA. In cells, binding to unmodified histone H3 regulates DOT1L functions including histone H3 'Lys-79' dimethylation (H3K79me2) and gene activation (PubMed:26439302).2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei266KMT2A/MLL1 fusion point (in acute myeloid leukemia patient B)1
Sitei627KMT2A/MLL1 fusion point (in acute myeloid leukemia patient C)1
Sitei664KMT2A/MLL1 fusion point (in acute myeloid leukemia patient A)1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri22 – 74PHD-type 1PROSITE-ProRule annotationAdd BLAST53
Zinc fingeri79 – 112C2HC pre-PHD-typePROSITE-ProRule annotationAdd BLAST34
Zinc fingeri135 – 198PHD-type 2PROSITE-ProRule annotationAdd BLAST64

GO - Molecular functioni

  • chromatin binding Source: UniProtKB
  • DNA binding Source: UniProtKB-KW
  • DNA-binding transcription factor activity Source: ProtInc
  • histone binding Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • nucleosome binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

SIGNORiP55197

Names & Taxonomyi

Protein namesi
Recommended name:
Protein AF-10Curated
Alternative name(s):
ALL1-fused gene from chromosome 10 protein
Gene namesi
Name:MLLT10Imported
Synonyms:AF101 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000078403.16
HGNCiHGNC:16063 MLLT10
MIMi602409 gene
neXtProtiNX_P55197

Subcellular locationi

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving MLLT10 is associated with acute leukemias. Translocation t(10;11)(p12;q23) with KMT2A/MLL1. The result is a rogue activator protein.
A chromosomal aberration involving MLLT10 is associated with diffuse histiocytic lymphomas. Translocation t(10;11)(p13;q14) with PICALM.

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi22I → A: Does not affect interaction with histone H3. 1 Publication1
Mutagenesisi80V → A: Does not affect interaction with histone H3. 1 Publication1
Mutagenesisi106A → V: Impairs interaction with histone H3. 1 Publication1
Mutagenesisi107L → A: Impairs interaction with histone H3. Reduces association to chromatin. Does not rescued histone H3 'Lys-79' dimethylation (H3K79me2) levels in MLLT10-depleted cells. Does not rescued DOT1L-target genes in MLLT10-depleted cells. 1 Publication1
Mutagenesisi109I → A: Impairs interaction with histone H3. 1 Publication1
Mutagenesisi114F → A: Impairs interaction with histone H3. 1 Publication1
Mutagenesisi120M → A: Impairs interaction with histone H3. 1 Publication1
Mutagenesisi179E → A: Impairs interaction with histone H3. 1 Publication1
Mutagenesisi190Y → A: Impairs interaction with histone H3. 1 Publication1

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNETi8028
MalaCardsiMLLT10
OpenTargetsiENSG00000078403
Orphaneti99861 Precursor T-cell acute lymphoblastic leukemia
PharmGKBiPA30849

Polymorphism and mutation databases

BioMutaiMLLT10
DMDMi527504034

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002159351 – 1068Protein AF-10Add BLAST1068

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei217PhosphoserineCombined sources1
Modified residuei252PhosphoserineCombined sources1
Cross-linki280Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei436PhosphoserineCombined sources1
Modified residuei532PhosphoserineBy similarity1
Modified residuei684PhosphoserineCombined sources1
Modified residuei686PhosphoserineCombined sources1
Modified residuei689PhosphoserineCombined sources1

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP55197
PaxDbiP55197
PeptideAtlasiP55197
PRIDEiP55197
ProteomicsDBi56802
56803 [P55197-2]

PTM databases

iPTMnetiP55197
PhosphoSitePlusiP55197

Expressioni

Tissue specificityi

Expressed abundantly in testis.

Gene expression databases

BgeeiENSG00000078403 Expressed in 209 organ(s), highest expression level in testis
CleanExiHS_MLLT10
ExpressionAtlasiP55197 baseline and differential
GenevisibleiP55197 HS

Organism-specific databases

HPAiHPA005747

Interactioni

Subunit structurei

Self-associates. Interacts with FSTL3 isoform 2; the interaction enhances MLLT10 in vitro transcriptional activity and self-association. Interacts with YEATS4. Interacts with SS18. Interacts with DOT1L; this interaction also occurs with the KMT2A/MLL1 fusion protein. Interacts with histone H3; interaction is necessary for MLLT10 binding to nucleosomes; interaction is inhibited by histone H3 'Lys-27' methylations (H3K27me1, H3K27me2 and H3K27me3) amd acetylation; interaction stabilizes association of MLLT10 at chromatin; interaction is essential for histone H3 'Lys-79' dimethylation (H3K79me2) (PubMed:26439302).5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CTNNB1P352224EBI-1104952,EBI-491549

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113723, 25 interactors
DIPiDIP-37633N
IntActiP55197, 23 interactors
STRINGi9606.ENSP00000307411

Structurei

Secondary structure

11068
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP55197
SMRiP55197
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni80 – 287Self-associationAdd BLAST208
Regioni106 – 190Required for interaction with histone H31 PublicationAdd BLAST85
Regioni141 – 233Interaction with FSTL31 PublicationAdd BLAST93
Regioni311 – 674DNA-bindingAdd BLAST364
Regioni703 – 784Transactivation domain; required for DOT1L-bindingAdd BLAST82
Regioni750 – 778Leucine-zipperAdd BLAST29

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi229 – 240Glu/Lys-richAdd BLAST12

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri22 – 74PHD-type 1PROSITE-ProRule annotationAdd BLAST53
Zinc fingeri79 – 112C2HC pre-PHD-typePROSITE-ProRule annotationAdd BLAST34
Zinc fingeri135 – 198PHD-type 2PROSITE-ProRule annotationAdd BLAST64

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG0956 Eukaryota
COG5141 LUCA
GeneTreeiENSGT00740000114866
HOGENOMiHOG000033831
HOVERGENiHBG004186
InParanoidiP55197
OMAiQYCGYCK
OrthoDBiEOG091G069E
PhylomeDBiP55197
TreeFamiTF316118

Family and domain databases

Gene3Di3.30.40.10, 2 hits
InterProiView 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
SMARTiView protein in SMART
SM00249 PHD, 2 hits
SUPFAMiSSF57903 SSF57903, 1 hit
PROSITEiView protein in PROSITE
PS51805 EPHD, 1 hit
PS01359 ZF_PHD_1, 1 hit
PS50016 ZF_PHD_2, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 4 (identifier: P55197-4) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MVSSDRPVSL EDEVSHSMKE MIGGCCVCSD ERGWAENPLV YCDGHGCSVA
60 70 80 90 100
VHQACYGIVQ VPTGPWFCRK CESQERAARV RCELCPHKDG ALKRTDNGGW
110 120 130 140 150
AHVVCALYIP EVQFANVSTM EPIVLQSVPH DRYNKTCYIC DEQGRESKAA
160 170 180 190 200
TGACMTCNKH GCRQAFHVTC AQFAGLLCEE EGNGADNVQY CGYCKYHFSK
210 220 230 240 250
LKKSKRGSNR SYDQSLSDSS SHSQDKHHEK EKKKYKEKDK HKQKHKKQPE
260 270 280 290 300
PSPALVPSLT VTTEKTYTST SNNSISGSLK RLEDTTARFT NANFQEVSAH
310 320 330 340 350
TSSGKDVSET RGSEGKGKKS SAHSSGQRGR KPGGGRNPGT TVSAASPFPQ
360 370 380 390 400
GSFSGTPGSV KSSSGSSVQS PQDFLSFTDS DLRNDSYSHS QQSSATKDVH
410 420 430 440 450
KGESGSQEGG VNSFSTLIGL PSTSAVTSQP KSFENSPGDL GNSSLPTAGY
460 470 480 490 500
KRAQTSGIEE ETVKEKKRKG NKQSKHGPGR PKGNKNQENV SHLSVSSASP
510 520 530 540 550
TSSVASAAGS ITSSSLQKSP TLLRNGSLQS LSVGSSPVGS EISMQYRHDG
560 570 580 590 600
ACPTTTFSEL LNAIHNGIYN SNDVAVSFPN VVSGSGSSTP VSSSHLPQQS
610 620 630 640 650
SGHLQQVGAL SPSAVSSAAP AVATTQANTL SGSSLSQAPS HMYGNRSNSS
660 670 680 690 700
MAALIAQSEN NQTDQDLGDN SRNLVGRGSS PRGSLSPRSP VSSLQIRYDQ
710 720 730 740 750
PGNSSLENLP PVAASIEQLL ERQWSEGQQF LLEQGTPSDI LGMLKSLHQL
760 770 780 790 800
QVENRRLEEQ IKNLTAKKER LQLLNAQLSV PFPTITANPS PSHQIHTFSA
810 820 830 840 850
QTAPTTDSLN SSKSPHIGNS FLPDNSLPVL NQDLTSSGQS TSSSSALSTP
860 870 880 890 900
PPAGQSPAQQ GSGVSGVQQV NGVTVGALAS GMQPVTSTIP AVSAVGGIIG
910 920 930 940 950
ALPGNQLAIN GIVGALNGVM QTPVTMSQNP TPLTHTTVPP NATHPMPATL
960 970 980 990 1000
TNSASGLGLL SDQQRQILIH QQQFQQLLNS QQLTPEQHQA FLYQLMQHHH
1010 1020 1030 1040 1050
QQHHQPELQQ LQIPGPTQIP INNLLAGTQA PPLHTATTNP FLTIHGDNAS
1060
QKVARLSDKT GPVAQEKS
Length:1,068
Mass (Da):113,320
Last modified:July 24, 2013 - v2
Checksum:i0C4D9B77F61BFEEE
GO
Isoform 1 (identifier: P55197-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     566-566: N → NDRGDSSTLTKQELKFI
     986-1011: EQHQAFLYQLMQHHHQQHHQPELQQL → VHRHPHFTQLPPTHFSPSMEIMQVRK
     1012-1068: Missing.

Show »
Length:1,027
Mass (Da):109,026
Checksum:i7C7C0059DDD46589
GO
Isoform 2 (identifier: P55197-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     81-126: RCELCPHKDG...VSTMEPIVLQ → AESRSVAQAK...GMQFLLVSLI
     127-1068: Missing.

Note: No experimental confirmation available.
Show »
Length:126
Mass (Da):13,851
Checksum:iB8E45EC6C2BA9FA8
GO
Isoform 3 (identifier: P55197-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     81-179: RCELCPHKDG...CAQFAGLLCE → MVCNSCWLAS...VIWRFKKERW
     180-1068: Missing.

Note: No experimental confirmation available.
Show »
Length:179
Mass (Da):20,047
Checksum:iE522FE1E4B1ED346
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y5C4H0Y5C4_HUMAN
Protein AF-10
MLLT10
62Annotation score:
Q5JT35Q5JT35_HUMAN
Protein AF-10
MLLT10
361Annotation score:
H0Y5P4H0Y5P4_HUMAN
Protein AF-10
MLLT10
179Annotation score:

Sequence cautioni

The sequence BC129946 differs from that shown. Reason: Frameshift at position 235.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04455281 – 179RCELC…GLLCE → MVCNSCWLASSENVTPGYIE HHCACASPHPRCLVSNVPPV SGALMHCFWACLTTAAFFGP QSFTTCHMSFLVSRDILFYI YGFMPFISVVIWRFKKERW in isoform 3. 1 PublicationAdd BLAST99
Alternative sequenceiVSP_04304481 – 126RCELC…PIVLQ → AESRSVAQAKVQWCDLSPLQ PLLPGFKRFSCLSLPNGMQF LLVSLI in isoform 2. 1 PublicationAdd BLAST46
Alternative sequenceiVSP_043045127 – 1068Missing in isoform 2. 1 PublicationAdd BLAST942
Alternative sequenceiVSP_044553180 – 1068Missing in isoform 3. 1 PublicationAdd BLAST889
Alternative sequenceiVSP_047517566N → NDRGDSSTLTKQELKFI in isoform 1. 1 Publication1
Alternative sequenceiVSP_047518986 – 1011EQHQA…ELQQL → VHRHPHFTQLPPTHFSPSME IMQVRK in isoform 1. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_0475191012 – 1068Missing in isoform 1. 1 PublicationAdd BLAST57

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U13948 mRNA Translation: AAA79972.1
AY598745 mRNA Translation: AAT47519.1
AL161799 Genomic DNA No translation available.
AL358780 Genomic DNA No translation available.
AL359697 Genomic DNA No translation available.
AL357372 Genomic DNA No translation available.
BC080577 mRNA Translation: AAH80577.1
BC094844 mRNA No translation available.
BC129946 mRNA No translation available.
CCDSiCCDS55706.1 [P55197-2]
CCDS55707.1 [P55197-3]
CCDS55708.1 [P55197-4]
CCDS7135.1 [P55197-1]
PIRiI38759
RefSeqiNP_001182555.1, NM_001195626.1 [P55197-4]
NP_001182556.1, NM_001195627.1 [P55197-2]
NP_001182557.1, NM_001195628.1 [P55197-3]
NP_001182559.1, NM_001195630.1 [P55197-3]
NP_001311225.1, NM_001324296.1 [P55197-3]
NP_004632.1, NM_004641.3 [P55197-1]
UniGeneiHs.30385

Genome annotation databases

EnsembliENST00000307729; ENSP00000307411; ENSG00000078403 [P55197-4]
ENST00000377059; ENSP00000366258; ENSG00000078403 [P55197-4]
ENST00000377072; ENSP00000366272; ENSG00000078403 [P55197-1]
ENST00000377091; ENSP00000366295; ENSG00000078403 [P55197-2]
ENST00000377100; ENSP00000366304; ENSG00000078403 [P55197-3]
ENST00000621220; ENSP00000484335; ENSG00000078403 [P55197-2]
ENST00000631589; ENSP00000488569; ENSG00000078403 [P55197-4]
GeneIDi8028
KEGGihsa:8028
UCSCiuc001iqq.3 human [P55197-4]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U13948 mRNA Translation: AAA79972.1
AY598745 mRNA Translation: AAT47519.1
AL161799 Genomic DNA No translation available.
AL358780 Genomic DNA No translation available.
AL359697 Genomic DNA No translation available.
AL357372 Genomic DNA No translation available.
BC080577 mRNA Translation: AAH80577.1
BC094844 mRNA No translation available.
BC129946 mRNA No translation available.
CCDSiCCDS55706.1 [P55197-2]
CCDS55707.1 [P55197-3]
CCDS55708.1 [P55197-4]
CCDS7135.1 [P55197-1]
PIRiI38759
RefSeqiNP_001182555.1, NM_001195626.1 [P55197-4]
NP_001182556.1, NM_001195627.1 [P55197-2]
NP_001182557.1, NM_001195628.1 [P55197-3]
NP_001182559.1, NM_001195630.1 [P55197-3]
NP_001311225.1, NM_001324296.1 [P55197-3]
NP_004632.1, NM_004641.3 [P55197-1]
UniGeneiHs.30385

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5DAGX-ray1.60A1-208[»]
5DAHX-ray2.61A/B1-208[»]
6CKNX-ray2.49A/B704-779[»]
6CKOX-ray2.00A/B704-779[»]
ProteinModelPortaliP55197
SMRiP55197
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113723, 25 interactors
DIPiDIP-37633N
IntActiP55197, 23 interactors
STRINGi9606.ENSP00000307411

PTM databases

iPTMnetiP55197
PhosphoSitePlusiP55197

Polymorphism and mutation databases

BioMutaiMLLT10
DMDMi527504034

Proteomic databases

EPDiP55197
PaxDbiP55197
PeptideAtlasiP55197
PRIDEiP55197
ProteomicsDBi56802
56803 [P55197-2]

Protocols and materials databases

DNASUi8028
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000307729; ENSP00000307411; ENSG00000078403 [P55197-4]
ENST00000377059; ENSP00000366258; ENSG00000078403 [P55197-4]
ENST00000377072; ENSP00000366272; ENSG00000078403 [P55197-1]
ENST00000377091; ENSP00000366295; ENSG00000078403 [P55197-2]
ENST00000377100; ENSP00000366304; ENSG00000078403 [P55197-3]
ENST00000621220; ENSP00000484335; ENSG00000078403 [P55197-2]
ENST00000631589; ENSP00000488569; ENSG00000078403 [P55197-4]
GeneIDi8028
KEGGihsa:8028
UCSCiuc001iqq.3 human [P55197-4]

Organism-specific databases

CTDi8028
DisGeNETi8028
EuPathDBiHostDB:ENSG00000078403.16
GeneCardsiMLLT10
HGNCiHGNC:16063 MLLT10
HPAiHPA005747
MalaCardsiMLLT10
MIMi602409 gene
neXtProtiNX_P55197
OpenTargetsiENSG00000078403
Orphaneti99861 Precursor T-cell acute lymphoblastic leukemia
PharmGKBiPA30849
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0956 Eukaryota
COG5141 LUCA
GeneTreeiENSGT00740000114866
HOGENOMiHOG000033831
HOVERGENiHBG004186
InParanoidiP55197
OMAiQYCGYCK
OrthoDBiEOG091G069E
PhylomeDBiP55197
TreeFamiTF316118

Enzyme and pathway databases

SIGNORiP55197

Miscellaneous databases

ChiTaRSiMLLT10 human
GeneWikiiMLLT10
GenomeRNAii8028
PROiPR:P55197
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000078403 Expressed in 209 organ(s), highest expression level in testis
CleanExiHS_MLLT10
ExpressionAtlasiP55197 baseline and differential
GenevisibleiP55197 HS

Family and domain databases

Gene3Di3.30.40.10, 2 hits
InterProiView 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
SMARTiView protein in SMART
SM00249 PHD, 2 hits
SUPFAMiSSF57903 SSF57903, 1 hit
PROSITEiView protein in PROSITE
PS51805 EPHD, 1 hit
PS01359 ZF_PHD_1, 1 hit
PS50016 ZF_PHD_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiAF10_HUMAN
AccessioniPrimary (citable) accession number: P55197
Secondary accession number(s): B1ANA8
, Q5JT37, Q5VX90, Q66K63
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: July 24, 2013
Last modified: October 10, 2018
This is version 164 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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