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Protein

Protein AF-17

Gene

MLLT6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei551 – 5511KMT2A/MLL1 fusion point (in acute myeloid leukemia patient)

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri5 – 5753PHD-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri51 – 6818C4-typeAdd
BLAST
Zinc fingeri117 – 18064PHD-type 2PROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

  • regulation of transcription, DNA-templated Source: ProtInc
Complete GO annotation...

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Protein AF-17
Alternative name(s):
ALL1-fused gene from chromosome 17 protein
Gene namesi
Name:MLLT6
Synonyms:AF17
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:7138. MLLT6.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & 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-oncogene

Organism-specific databases

PharmGKBiPA30854.

Polymorphism and mutation databases

BioMutaiMLLT6.
DMDMi215273929.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10931093Protein AF-17PRO_0000215937Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei258 – 2581PhosphoserineCombined sources
Modified residuei378 – 3781PhosphoserineCombined sources
Modified residuei423 – 4231PhosphoserineCombined sources
Modified residuei451 – 4511PhosphothreonineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiP55198.
MaxQBiP55198.
PaxDbiP55198.
PeptideAtlasiP55198.
PRIDEiP55198.

PTM databases

iPTMnetiP55198.
PhosphoSiteiP55198.

Expressioni

Gene expression databases

BgeeiP55198.
CleanExiHS_MLLT6.

Organism-specific databases

HPAiHPA004021.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
UBQLN1Q9UMX0-23EBI-740216,EBI-10173939
UBQLN4Q9NRR52EBI-740216,EBI-711226

Protein-protein interaction databases

BioGridi110448. 49 interactions.
IntActiP55198. 15 interactions.
MINTiMINT-1462445.
STRINGi9606.ENSP00000316426.

Structurei

3D structure databases

ProteinModelPortaliP55198.
SMRiP55198. Positions 8-61.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni729 – 76436Leucine-zipperAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi190 – 21122Gly/Ser-richAdd
BLAST
Compositional biasi275 – 2828Poly-Ser
Compositional biasi326 – 33813Poly-SerAdd
BLAST
Compositional biasi822 – 8298Poly-Ser
Compositional biasi834 – 86229Pro-richAdd
BLAST
Compositional biasi935 – 98450Gln-richAdd
BLAST
Compositional biasi1040 – 105112Poly-AlaAdd
BLAST
Compositional biasi1069 – 108012Gly-richAdd
BLAST

Sequence similaritiesi

Contains 2 PHD-type zinc fingers.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri5 – 5753PHD-type 1PROSITE-ProRule annotationAdd
BLAST
Zinc fingeri51 – 6818C4-typeAdd
BLAST
Zinc fingeri117 – 18064PHD-type 2PROSITE-ProRule annotationAdd
BLAST

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG0956. Eukaryota.
COG5141. LUCA.
HOGENOMiHOG000033831.
HOVERGENiHBG004186.
InParanoidiP55198.
OrthoDBiEOG7K6PT9.
PhylomeDBiP55198.
TreeFamiTF316118.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiIPR019786. Zinc_finger_PHD-type_CS.
IPR011011. Znf_FYVE_PHD.
IPR001965. Znf_PHD.
IPR019787. Znf_PHD-finger.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
SMARTiSM00249. PHD. 2 hits.
[Graphical view]
SUPFAMiSSF57903. SSF57903. 1 hit.
PROSITEiPS01359. ZF_PHD_1. 1 hit.
PS50016. ZF_PHD_2. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P55198-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKEMVGGCCV CSDERGWAEN PLVYCDGHAC SVVVHQACYG 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
Length:1,093
Mass (Da):112,076
Last modified:November 25, 2008 - v2
Checksum:iDF61DE3AD82C14BB
GO

Sequence cautioni

The sequence AAH07237.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence BAB15670.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti33 – 331V → A in AAA21145 (PubMed:8058765).Curated
Sequence conflicti33 – 331V → A in BAD92870 (Ref. 4) Curated
Sequence conflicti126 – 1261Q → T in AAA21145 (PubMed:8058765).Curated
Sequence conflicti735 – 7351R → W in BAD92870 (Ref. 4) Curated
Sequence conflicti1065 – 10651L → P in BAB15670 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti198 – 1981A → T.
Corresponds to variant rs2241012 [ dbSNP | Ensembl ].
VAR_022076

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U07932 mRNA. Translation: AAA21145.1.
AC006449 Genomic DNA. No translation available.
AK027133 mRNA. Translation: BAB15670.1. Different initiation.
AB209633 mRNA. Translation: BAD92870.1.
BC007237 mRNA. Translation: AAH07237.1. Different initiation.
AL133659 mRNA. Translation: CAB63772.2.
CCDSiCCDS11327.1.
PIRiI38533.
RefSeqiNP_005928.2. NM_005937.3.
UniGeneiHs.91531.

Genome annotation databases

GeneIDi4302.
KEGGihsa:4302.

Keywords - Coding sequence diversityi

Chromosomal rearrangement, Polymorphism

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.
AK027133 mRNA. Translation: BAB15670.1. Different initiation.
AB209633 mRNA. Translation: BAD92870.1.
BC007237 mRNA. Translation: AAH07237.1. Different initiation.
AL133659 mRNA. Translation: CAB63772.2.
CCDSiCCDS11327.1.
PIRiI38533.
RefSeqiNP_005928.2. NM_005937.3.
UniGeneiHs.91531.

3D structure databases

ProteinModelPortaliP55198.
SMRiP55198. Positions 8-61.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110448. 49 interactions.
IntActiP55198. 15 interactions.
MINTiMINT-1462445.
STRINGi9606.ENSP00000316426.

PTM databases

iPTMnetiP55198.
PhosphoSiteiP55198.

Polymorphism and mutation databases

BioMutaiMLLT6.
DMDMi215273929.

Proteomic databases

EPDiP55198.
MaxQBiP55198.
PaxDbiP55198.
PeptideAtlasiP55198.
PRIDEiP55198.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

GeneIDi4302.
KEGGihsa:4302.

Organism-specific databases

CTDi4302.
GeneCardsiMLLT6.
HGNCiHGNC:7138. MLLT6.
HPAiHPA004021.
MIMi600328. gene.
neXtProtiNX_P55198.
PharmGKBiPA30854.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0956. Eukaryota.
COG5141. LUCA.
HOGENOMiHOG000033831.
HOVERGENiHBG004186.
InParanoidiP55198.
OrthoDBiEOG7K6PT9.
PhylomeDBiP55198.
TreeFamiTF316118.

Miscellaneous databases

ChiTaRSiMLLT6. human.
GenomeRNAii4302.
PROiP55198.
SOURCEiSearch...

Gene expression databases

BgeeiP55198.
CleanExiHS_MLLT6.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiIPR019786. Zinc_finger_PHD-type_CS.
IPR011011. Znf_FYVE_PHD.
IPR001965. Znf_PHD.
IPR019787. Znf_PHD-finger.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
SMARTiSM00249. PHD. 2 hits.
[Graphical view]
SUPFAMiSSF57903. SSF57903. 1 hit.
PROSITEiPS01359. ZF_PHD_1. 1 hit.
PS50016. ZF_PHD_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Leucine-zipper dimerization motif encoded by the AF17 gene fused to ALL-1 (MLL) in acute leukemia."
    Prasad R., Leshkowitz D., Gu Y., Alder H., Nakamura T., Saito H., Huebner K., Berger R., Croce C.M., Canaani E.
    Proc. Natl. Acad. Sci. U.S.A. 91:8107-8111(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], CHROMOSOMAL TRANSLOCATION WITH KMT2A/MLL1.
  2. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5-1093.
    Tissue: Ileal mucosa.
  4. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
    Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 5-1093.
    Tissue: Spleen.
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 624-1093.
    Tissue: Skin.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 648-1093.
    Tissue: Testis.
  7. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-451, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  8. "Toward a comprehensive characterization of a human cancer cell phosphoproteome."
    Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., Mohammed S.
    J. Proteome Res. 12:260-271(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-258; SER-378 AND SER-423, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma and Erythroleukemia.

Entry informationi

Entry nameiAF17_HUMAN
AccessioniPrimary (citable) accession number: P55198
Secondary accession number(s): Q59F28
, Q96IU3, Q9H5F6, Q9UF49
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: November 25, 2008
Last modified: July 6, 2016
This is version 138 of the entry and version 2 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.