P55198 (AF17_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein AF-17

Alternative name(s):
ALL1-fused gene from chromosome 17 protein

Gene names

Name:	MLLT6
Synonyms:	AF17

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1093 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Nucleus Potential.
Involvement in disease	Note=A chromosomal aberration involving MLLT6 is associated with acute leukemias. Translocation t(11;17)(q23;q21) with MLL/HRX. The result is a rogue activator protein.
Sequence similarities	Contains 2 PHD-type zinc fingers.
Sequence caution	The sequence AAH07237.1 differs from that shown. Reason: Erroneous initiation. The sequence BAB15670.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Chromosomal rearrangement Polymorphism
Disease	Proto-oncogene
Domain	Repeat Zinc-finger
Ligand	Metal-binding Zinc
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	regulation of transcription, DNA-dependent Traceable author statement. Source: ProtInc
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	protein binding Inferred from physical interaction. Source: IntAct zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
UBQLN4	Q9NRR5	2	EBI-740216,EBI-711226

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1093	1093	Protein AF-17		PRO_0000215937
Regions
	Domain	729 – 764	36	Leucine-zipper
	Zinc finger	5 – 57	53	PHD-type 1
	Zinc finger	51 – 68	18	C4-type
	Zinc finger	117 – 180	64	PHD-type 2
	Compositional bias	190 – 211	22	Gly/Ser-rich
	Compositional bias	275 – 282	8	Poly-Ser
	Compositional bias	326 – 338	13	Poly-Ser
	Compositional bias	822 – 829	8	Poly-Ser
	Compositional bias	834 – 862	29	Pro-rich
	Compositional bias	935 – 984	50	Gln-rich
	Compositional bias	1040 – 1051	12	Poly-Ala
	Compositional bias	1069 – 1080	12	Gly-rich
Sites
	Site	551	1	MLL fusion point (in acute myeloid leukemia patient)
Amino acid modifications
	Modified residue	378	1	Phosphoserine Ref.7
	Modified residue	451	1	Phosphothreonine Ref.8
Natural variations
	Natural variant	198	1	A → T. Corresponds to variant rs2241012 [ dbSNP | Ensembl ].		VAR_022076
Experimental info
	Sequence conflict	33	1	V → A in AAA21145. Ref.1
	Sequence conflict	33	1	V → A in BAD92870. Ref.4
	Sequence conflict	126	1	Q → T in AAA21145. Ref.1
	Sequence conflict	735	1	R → W in BAD92870. Ref.4
	Sequence conflict	1065	1	L → P in BAB15670. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	P55198 [UniParc]. Last modified November 25, 2008. Version 2. Checksum: DF61DE3AD82C14BB	FASTA	1,093	112,076
	10 20 30 40 50 60 MKEMVGGCCV CSDERGWAEN PLVYCDGHAC SVVVHQACYG IVQVPTGPWF CRKCESQERA 70 80 90 100 110 120 ARVRCELCPH KDGALKRTDN GGWAHVVCAL YIPEVQFANV LTMEPIVLQY VPHDRFNKTC 130 140 150 160 170 180 YICEEQGRES KAASGACMTC NRHGCRQAFH VTCAQMAGLL CEEEVLEVDN VKYCGYCKYH 190 200 210 220 230 240 FSKMKTSRHS SGGGGGGAGG GGGSMGGGGS GFISGRRSRS ASPSTQQEKH PTHHERGQKK 250 260 270 280 290 300 SRKDKERLKQ KHKKRPESPP SILTPPVVPT ADKVSSSASS SSHHEASTQE TSESSRESKG 310 320 330 340 350 360 KKSSSHSLSH KGKKLSSGKG VSSFTSASSS SSSSSSSSGG PFQPAVSSLQ SSPDFSAFPK 370 380 390 400 410 420 LEQPEEDKYS KPTAPAPSAP PSPSAPEPPK ADLFEQKVVF SGFGPIMRFS TTTSSSGRAR 430 440 450 460 470 480 APSPGDYKSP HVTGSGASAG THKRMPALSA TPVPADETPE TGLKEKKHKA SKRSRHGPGR 490 500 510 520 530 540 PKGSRNKEGT GGPAAPSLPS AQLAGFTATA ASPFSGGSLV SSGLGGLSSR TFGPSGSLPS 550 560 570 580 590 600 LSLESPLLGA GIYTSNKDPI SHSGGMLRAV CSTPLSSSLL GPPGTSALPR LSRSPFTSTL 610 620 630 640 650 660 PSSSASISTT QVFSLAGSTF SLPSTHIFGT PMGAVNPLLS QAESSHTEPD LEDCSFRCRG 670 680 690 700 710 720 TSPQESLSSM SPISSLPALF DQTASAPCGG GQLDPAAPGT TNMEQLLEKQ GDGEAGVNIV 730 740 750 760 770 780 EMLKALHALQ KENQRLQEQI LSLTAKKERL QILNVQLSVP FPALPAALPA ANGPVPGPYG 790 800 810 820 830 840 LPPQAGSSDS LSTSKSPPGK SSLGLDNSLS TSSEDPHSGC PSRSSSSLSF HSTPPPLPLL 850 860 870 880 890 900 QQSPATLPLA LPGAPAPLPP QPQNGLGRAP GAAGLGAMPM AEGLLGGLAG SGGLPLNGLL 910 920 930 940 950 960 GGLNGAAAPN PASLSQAGGA PTLQLPGCLN SLTEQQRHLL QQQEQQLQQL QQLLASPQLT 970 980 990 1000 1010 1020 PEHQTVVYQM IQQIQQKREL QRLQMAGGSQ LPMASLLAGS STPLLSAGTP GLLPTASAPP 1030 1040 1050 1060 1070 1080 LLPAGALVAP SLGNNTSLMA AAAAAAAVAA AGGPPVLTAQ TNPFLSLSGA EGSGGGPKGG 1090 TADKGASANQ EKG

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 8058765] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], CHROMOSOMAL TRANSLOCATION WITH MLL/HRX.
[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: 16625196] [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: 14702039] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 624-1093. Tissue: Skin.
[6]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 648-1093. Tissue: Testis.
[7]	"Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column." Imami K., Sugiyama N., Kyono Y., Tomita M., Ishihama Y. Anal. Sci. 24:161-166(2008) [PubMed: 18187866] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-378, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[8]	"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: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-451, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00023466.
PIR	I38533.
RefSeq	NP_005928.2. NM_005937.3.
UniGene	Hs.91531.
3D structure databases
ProteinModelPortal	P55198.
SMR	P55198. Positions 5-61.
ModBase	Search...
Protein-protein interaction databases
IntAct	P55198. 6 interactions.
MINT	MINT-1462445.
STRING	P55198.
PTM databases
PhosphoSite	P55198.
Polymorphism databases
DMDM	215273929.
Proteomic databases
PRIDE	P55198.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000325718; ENSP00000316426; ENSG00000108292.
GeneID	4302.
KEGG	hsa:4302.
Organism-specific databases
CTD	4302.
GeneCards	GC17P036861.
HGNC	HGNC:7138. MLLT6.
HPA	HPA004021.
MIM	600328. gene.
neXtProt	NX_P55198.
PharmGKB	PA30854.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG17042.
GeneTree	ENSGT00600000084089.
HOGENOM	HBG715728.
HOVERGEN	HBG004186.
InParanoid	P55198.
OMA	FGPIMRF.
OrthoDB	EOG4XD3QG.
PhylomeDB	P55198.
Gene expression databases
ArrayExpress	P55198.
Bgee	P55198.
CleanEx	HS_MLLT6.
Genevestigator	P55198.
GermOnline	ENSG00000108292. Homo sapiens.
Family and domain databases
InterPro	IPR019786. Zinc_finger_PHD-type_CS. IPR011011. Znf_FYVE_PHD. IPR001965. Znf_PHD. IPR019787. Znf_PHD-finger. IPR013083. Znf_RING/FYVE/PHD. [Graphical view]
Gene3D	G3DSA:3.30.40.10. Znf_RING/FYVE/PHD. 1 hit.
SMART	SM00249. PHD. 2 hits. [Graphical view]
SUPFAM	SSF57903. FYVE_PHD_ZnF. 1 hit.
PROSITE	PS01359. ZF_PHD_1. 1 hit. PS50016. ZF_PHD_2. 2 hits. [Graphical view]
ProtoNet	Search...
Other
SOURCE	Search...

Entry information

Entry name

AF17_HUMAN

Accession

Primary (citable) accession number: P55198
Secondary accession number(s): Q59F28 , Q96IU3, Q9H5F6, Q9UF49

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	November 25, 2008
Last modified:	January 25, 2012
This is version 100 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.