Reviewed, UniProtKB/Swiss-Prot O94915 (FRYL_HUMAN)

Names and origin

Protein names

Recommended name:
    Protein furry homolog-like
Alternative name(s):
    ALL1-fused gene from chromosome 4p12

Gene names

Name:	FRYL
Synonyms:	AF4P12, KIAA0826

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	3013 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Plays a key role in maintaining the integrity of polarized cell extensions during morphogenesis, regulates the actin cytoskeleton and plays a key role in patterning sensory neuron dendritic fields by promoting avoidance between homologous dendrites as well as by limiting dendritic branching By similarity. May function as a transcriptional activator.
Tissue specificity	Widely expressed with higher expression in colon, placenta, brain and cells of lymphoid origin. Ref.6
Involvement in disease	A chromosomal aberration involving FRYL is found in treatment-related acute lymphoblastic leukemia (ALL). Translocation t(4;11)(p12;q23) that forms a MLL-FRYL fusion protein.
Sequence similarities	Belongs to the furry protein family.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Coding sequence diversity	Alternative splicing Chromosomal rearrangement Polymorphism
PTM	Phosphoprotein
Gene Ontology (GO)
Biological process	regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
BAK1	Q16611	1	EBI-1104821,EBI-519866
YWHAB	P31946	1	EBI-1104821,EBI-359815
YWHAG	P61981	1	EBI-1104821,EBI-359832

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O94915-1)

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.

Isoform 2 (identifier: O94915-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-2604: Missing.
     2822-2827: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 3013	3013	Protein furry homolog-like		PRO_0000277619
Sites
	Site	2302	1	Breakpoint for insertion to form MLL-AFF4 fusion protein
Amino acid modifications
	Modified residue	844	1	Phosphoserine Ref.8 Ref.9
	Modified residue	1959	1	Phosphothreonine Ref.9
	Modified residue	2272	1	Phosphoserine Ref.8 Ref.9 Ref.7
Natural variations
	Alternative sequence	1 – 2604	2604	Missing in isoform 2.		VSP_023038
	Alternative sequence	2822 – 2827	6	Missing in isoform 2.		VSP_023039
	Natural variant	1878	1	I → V: dbSNP rs7670111.		VAR_053832

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 6, 2007. Version 2. Checksum: DFD7FEC47792DA1E	FASTA	3,013	339,598
	10 20 30 40 50 60 MSNITIDPDV KPGEYVIKSL FAEFAVQAEK KIEVVMAEPL EKLLSRSLQR GEDLQFDQLI 70 80 90 100 110 120 SSMSSVAEHC LPSLLRTLFD WYRRQNGTED ESYEYRPRSS TKSKGDEQQR ERDYLLERRD 130 140 150 160 170 180 LAVDFIFCLV LVEVLKQIPV HPVPDPLVHE VLNLAFKHFK HKEGYSGTNT GNVHIIADLY 190 200 210 220 230 240 AEVIGVLAQS KFQAVRKKFV TELKELRQKE QSPHVVQSVI SLIMGMKFFR VKMYPVEDFE 250 260 270 280 290 300 ASFQFMQECA QYFLEVKDKD IKHALAGLFV EILIPVAAAV KNEVNVPCLK NFVEMLYQTT 310 320 330 340 350 360 FELSSRKKHS LALYPLITCL LCVSQKQFFL NNWHIFLQNC LSHLKNKDPK MSRVALESLY 370 380 390 400 410 420 RLLWVYVIRI KCESNTVTQS RLMSIVSALF PKGSRSVVPR DTPLNIFVKI IQFIAQERLD 430 440 450 460 470 480 FAMKEIIFDL LSVGKSTKTF TINPERMNIG LRVFLVIADS LQQKDGEPPM PTTGVILPSG 490 500 510 520 530 540 NTLRVKKIFL NKTLTDEEAK VIGMSVYYPQ VRKALDSILR HLDKEVGRPM CMTSVQMSNK 550 560 570 580 590 600 EPEDMITGER KPKIDLFRTC IAAIPRLIPD GMSRTDLIEL LARLTIHMDE ELRALAFNTL 610 620 630 640 650 660 QALMLDFPDW REDVLSGFVY FIVREVTDVH PTLLDNAVKM LVQLINQWKQ AAQMHNKNQD 670 680 690 700 710 720 TQHGVANGAS HPPPLERSPY SNVFHVVEGF ALVILCSSRP ATRRLAVSVL REIRALFALL 730 740 750 760 770 780 EIPKGDDELA IDVMDRLSPS ILESFIHLTG ADQTTLLYCP SSIDLQTLAE WNSSPISHQF 790 800 810 820 830 840 DVISPSHIWI FAHVTQGQDP WIISLSSFLK QENLPKHCST AVSYAWMFAY TRLQLLSPQV 850 860 870 880 890 900 DINSPINAKK VNTTTSSDSY IGLWRNYLIL CCSAATSSSS TSAGSVRCSP PETLASTPDS 910 920 930 940 950 960 GYSIDSKIIG IPSPSSLFKH IVPMMRSESM EITESLVLGL GRTNPGAFRE LIEELHPIIK 970 980 990 1000 1010 1020 EALERRPENM KRRRRRDILR VQLVRIFELL ADAGVISHSA SGGLDNETHF LNNTLLEYVD 1030 1040 1050 1060 1070 1080 LTRQLLEAEN EKDSDTLKDI RCHFSALVAN IIQNVPVHQR RSIFPQQSLR HSLFMLFSHW 1090 1100 1110 1120 1130 1140 AGPFSIMFTP LDRYSDRNMQ INRHQYCALK AMSAVLCCGP VADNVGLSSD GYLYKWLDNI 1150 1160 1170 1180 1190 1200 LDSLDKKVHQ LGCEAVTLLL ELNPDQSNLM YWAVDRCYTG SGRVAAGCFK AIANVFQNRD 1210 1220 1230 1240 1250 1260 YQCDTVMLLN LILFKAADSS RSIYEVAMQL LQILEPKMFR YAHKLEVQRT DGVLSQLSPL 1270 1280 1290 1300 1310 1320 PHLYSVSYYQ LSEELARAYP ELTLAIFSEI SQRIQTAHPA GRQVMLHYLL PWMNNIELVD 1330 1340 1350 1360 1370 1380 LKPLPTARRH DEDEDDSLKD RELMVTSRRW LRGEGWGSPQ ATAMVLNNLM YMTAKYGDEL 1390 1400 1410 1420 1430 1440 AWSEVENVWT TLADGWPKNL KIILHFLISI CGVNSEPSLL PYVKKVIVYL GRDKTMQLLE 1450 1460 1470 1480 1490 1500 ELVSELQLTD PVSSGVTHMD NPPYYRITSS YKIPSVTSGT TSSSNTMVAP TDGNPDNKPI 1510 1520 1530 1540 1550 1560 KENIEESYVH LDIYSGLNSH LNRQHHRLES RYSSSSGGSY EEEKSDSMPL YSNWRLKVME 1570 1580 1590 1600 1610 1620 HNQGEPLPFP PAGGCWSPLV DYVPETSSPG LPLHRCNIAV ILLTDLIIDH SVKVEWGSYL 1630 1640 1650 1660 1670 1680 HLLLHAIFIG FDHCHPEVYE HCKRLLLHLL IVMGPNSNIR TVASVLLRNK EFNEPRVLTV 1690 1700 1710 1720 1730 1740 KQVAHLDYNF TAGINDFIPD YQPSPMTDSG LSSSSTSSSI SLGNNSAAIS HLHTTILNEV 1750 1760 1770 1780 1790 1800 DISVEQDGKV KTLMEFITSR KRGPLWNHED VSAKNPSIKS AEQLTTFLKH VVSVFKQSSS 1810 1820 1830 1840 1850 1860 EGIHLEHHLS EVALQTALSC SSRHYAGRSF QIFRALKQPL TATTLSDVLS RLVETVGDPG 1870 1880 1890 1900 1910 1920 EDAQGFVIEL LLTLESAIDT LAETMKHYDL LSALSQTSYH DPIMGNKYAA NRKSTGQLNL 1930 1940 1950 1960 1970 1980 STSPINSSSY LGYNSNARSN SLRLSLIGDR RGDRRRSNTL DIMDGRINHS SSLARTRSLS 1990 2000 2010 2020 2030 2040 SLREKGMYDV QSTTEPTNLM ATIFWIAASL LESDYEYEYL LALRLLNKLL IHLPLDKSES 2050 2060 2070 2080 2090 2100 REKIENVQSK LKWTNFPGLQ QLFLKGFTSA STQEMTVHLL SKLISVSKHT LVDPSQLSGF 2110 2120 2130 2140 2150 2160 PLNILCLLPH LIQHFDSPTQ FCKETASRIA KVCAEEKCPT LVNLAHMMSL YSTHTYSRDC 2170 2180 2190 2200 2210 2220 SNWINVVCRY LHDSFSDTTF NLVTYLAELL EKGLSSMQQS LLQIIYSLLS HIDLSAAPAK 2230 2240 2250 2260 2270 2280 QFNLEIIKII GKYVQSPYWK EALNILKLVV SRSASLVVPS DIPKTYGGDT GSPEISFTKI 2290 2300 2310 2320 2330 2340 FNNVSKELPG KTLDFHFDIS ETPIIGNKYG DQHSAAGRNG KPKVIAVTRS TSSTSSGSNS 2350 2360 2370 2380 2390 2400 NALVPVSWKR PQLSQRRTRE KLMNVLSLCG PESGLPKNPS VVFSSNEDLE VGDQQTSLIS 2410 2420 2430 2440 2450 2460 TTEDINQEEE VAVEDNSSEQ QFGVFKDFDF LDVELEDAEG ESMDNFNWGV RRRSLDSIDK 2470 2480 2490 2500 2510 2520 GDTPSLQEYQ CSSSTPSLNL TNQEDTDESS EEEAALTASQ ILSRTQMLNS DSATDETIPD 2530 2540 2550 2560 2570 2580 HPDLLLQSED STGSITTEEV LQIRDETPTL EASLDNANSR LPEDTTSVLK EEHVTTFEDE 2590 2600 2610 2620 2630 2640 GSYIIQEQQE SLVCQGILDL EETEMPEPLA PESYPESVCE EDVTLALKEL DERCEEEEAD 2650 2660 2670 2680 2690 2700 FSGLSSQDEE EQDGFPEVQT SPLPSPFLSA IIAAFQPVAY DDEEEAWRCH VNQMLSDTDG 2710 2720 2730 2740 2750 2760 SSAVFTFHVF SRLFQTIQRK FGEITNEAVS FLGDSLQRIG TKFKSSLEVM MLCSECPTVF 2770 2780 2790 2800 2810 2820 VDAETLMSCG LLETLKFGVL ELQEHLDTYN VKREAAEQWL DDCKRTFGAK EDMYRINTDA 2830 2840 2850 2860 2870 2880 QQMEILAELE LCRRLYKLHF QLLLLFQAYC KLINQVNTIK NEAEVINMSE ELAQLESILK 2890 2900 2910 2920 2930 2940 EAESASENEE IDISKAAQTT IETAIHSLIE TLKNKEFISA VAQVKAFRSL WPSDIFGSCE 2950 2960 2970 2980 2990 3000 DDPVQTLLHI YFHHQTLGQT GSFAVIGSNL DMSEANYKLM ELNLEIRESL RMVQSYQLLA 3010 QAKPMGNMVS TGF
	Isoform 2. Checksum: AF556A9BE526EFF4	FASTA	403	45,597
	10 20 30 40 50 60 MPEPLAPESY PESVCEEDVT LALKELDERC EEEEADFSGL SSQDEEEQDG FPEVQTSPLP 70 80 90 100 110 120 SPFLSAIIAA FQPVAYDDEE EAWRCHVNQM LSDTDGSSAV FTFHVFSRLF QTIQRKFGEI 130 140 150 160 170 180 TNEAVSFLGD SLQRIGTKFK SSLEVMMLCS ECPTVFVDAE TLMSCGLLET LKFGVLELQE 190 200 210 220 230 240 HLDTYNVKRE AAEQWLDDCK RTFGAKEDMY RINTDAQELE LCRRLYKLHF QLLLLFQAYC 250 260 270 280 290 300 KLINQVNTIK NEAEVINMSE ELAQLESILK EAESASENEE IDISKAAQTT IETAIHSLIE 310 320 330 340 350 360 TLKNKEFISA VAQVKAFRSL WPSDIFGSCE DDPVQTLLHI YFHHQTLGQT GSFAVIGSNL 370 380 390 400 DMSEANYKLM ELNLEIRESL RMVQSYQLLA QAKPMGNMVS TGF

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"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] (ISOFORM 2). Tissue: Urinary bladder.
[3]	"Identification of fifteen genes mapping to a region of chromosome 6p21.3 encompassing the microsatellite markers D6S306 and D6S1260. characterization of three genes encoding zinc finger proteins." Lee P.L., Gelbart T., West C., Adams M., Blackstone R. Submitted (NOV-1996) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1754-2548 (ISOFORM 1).
[4]	"Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:355-364(1998) [PubMed: 10048485] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1778-3013 (ISOFORM 1). Tissue: Brain.
[5]	"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., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2853-3013 (ISOFORM 1). Tissue: Testis.
[6]	"AF4p12, a human homologue to the furry gene of Drosophila, as a novel MLL fusion partner." Hayette S., Cornillet-Lefebvre P., Tigaud I., Struski S., Forissier S., Berchet A., Doll D., Gillot L., Brahim W., Delabesse E., Magaud J.-P., Rimokh R. Cancer Res. 65:6521-6525(2005) [PubMed: 16061630] [Abstract] Cited for: FUNCTION, CHROMOSOMAL TRANSLOCATION WITH MLL, TISSUE SPECIFICITY.
[7]	"A probability-based approach for high-throughput protein phosphorylation analysis and site localization." Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P. Nat. Biotechnol. 24:1285-1292(2006) [PubMed: 16964243] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2272, MASS SPECTROMETRY. Tissue: Epithelium.
[8]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-844 AND SER-2272, MASS SPECTROMETRY.
[9]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-844; THR-1959 AND SER-2272, MASS SPECTROMETRY.
[10]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBLGenBankDDBJ	AC068037 Genomic DNA. No translation available. AC096952 Genomic DNA. No translation available. BC021803 mRNA. Translation: AAH21803.1. U80082 mRNA. Translation: AAD00351.1. AB020633 mRNA. Translation: BAA74849.1. AL137546 mRNA. Translation: CAB70804.1.
IPI	IPI00159652. IPI00739940.
PIR	T46389.
RefSeq	NP_055845.1.
UniGene	Hs.631525
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	O94915. 6 interactions.
PTM databases
PhosphoSite	O94915.
Proteomic databases
PRIDE	O94915.
Genome annotation databases
Ensembl	ENSG00000075539. Homo sapiens. [Contig view]
GeneID	285527.
KEGG	hsa:285527.
Organism-specific databases
GeneCards	GC04M048194.
HGNC	HGNC:29127. FRYL.
PharmGKB	PA134967984.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	O94915.
Gene expression databases
ArrayExpress	O94915.
Bgee	O94915.
CleanEx	HS_FRYL.
Family and domain databases
ProtoNet	Search...
Other Resources
NextBio	95583.

Entry information

Entry name

FRYL_HUMAN

Accession

Primary (citable) accession number: O94915
Secondary accession number(s): O95640, Q8WTZ5, Q9NT40

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 6, 2007
Last sequence update:	February 6, 2007
Last modified:	June 16, 2009
This is version 50 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)