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Protein

Protein furry homolog-like

Gene

FRYL

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

Functioni

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.By similarity1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei2302 – 23021Breakpoint for insertion to form KMT2A/MLL1-AFF4 fusion protein

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Protein furry homolog-like
Alternative name(s):
ALL1-fused gene from chromosome 4p12 protein
Gene namesi
Name:FRYL
Synonyms:AF4P12, KIAA0826
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:29127. FRYL.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving FRYL is found in treatment-related acute lymphoblastic leukemia (ALL). Translocation t(4;11)(p12;q23) that forms a KMT2A/MLL1-FRYL fusion protein.

Organism-specific databases

PharmGKBiPA134967984.

Polymorphism and mutation databases

BioMutaiFRYL.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemoved1 Publication
Chaini2 – 30133012Protein furry homolog-likePRO_0000277619Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserine1 Publication
Modified residuei844 – 8441PhosphoserineCombined sources
Modified residuei1914 – 19141PhosphoserineCombined sources
Modified residuei1935 – 19351PhosphoserineCombined sources
Modified residuei1941 – 19411PhosphoserineCombined sources
Modified residuei1945 – 19451PhosphoserineCombined sources
Modified residuei1957 – 19571PhosphoserineCombined sources
Modified residuei1959 – 19591PhosphothreonineCombined sources
Modified residuei1978 – 19781PhosphoserineCombined sources
Modified residuei2272 – 22721PhosphoserineCombined sources
Modified residuei2454 – 24541PhosphoserineCombined sources
Modified residuei2499 – 24991PhosphoserineCombined sources

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO94915.
MaxQBiO94915.
PaxDbiO94915.
PeptideAtlasiO94915.
PRIDEiO94915.

PTM databases

iPTMnetiO94915.
PhosphoSiteiO94915.

Expressioni

Tissue specificityi

Widely expressed with higher expression in colon, placenta, brain and cells of lymphoid origin.1 Publication

Gene expression databases

BgeeiENSG00000075539.
CleanExiHS_FRYL.
ExpressionAtlasiO94915. baseline and differential.
GenevisibleiO94915. HS.

Organism-specific databases

HPAiHPA031106.
HPA031107.

Interactioni

Protein-protein interaction databases

BioGridi130134. 27 interactions.
IntActiO94915. 14 interactions.
MINTiMINT-1632000.
STRINGi9606.ENSP00000351113.

Structurei

3D structure databases

ProteinModelPortaliO94915.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the furry protein family.Curated

Phylogenomic databases

eggNOGiKOG1825. Eukaryota.
ENOG410XSZS. LUCA.
GeneTreeiENSGT00610000086058.
HOGENOMiHOG000112653.
HOVERGENiHBG081541.
InParanoidiO94915.
OMAiSVFQNRD.
OrthoDBiEOG091G003A.
PhylomeDBiO94915.
TreeFamiTF313568.

Family and domain databases

Gene3Di1.25.10.10. 11 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR025614. Cell_morpho_N.
IPR025481. Cell_Morphogen_C.
IPR029473. MOR2-PAG1_mid.
[Graphical view]
PfamiPF14225. MOR2-PAG1_C. 1 hit.
PF14228. MOR2-PAG1_mid. 4 hits.
PF14222. MOR2-PAG1_N. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 7 hits.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O94915-1) [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
MSNITIDPDV KPGEYVIKSL FAEFAVQAEK KIEVVMAEPL EKLLSRSLQR
60 70 80 90 100
GEDLQFDQLI SSMSSVAEHC LPSLLRTLFD WYRRQNGTED ESYEYRPRSS
110 120 130 140 150
TKSKGDEQQR ERDYLLERRD LAVDFIFCLV LVEVLKQIPV HPVPDPLVHE
160 170 180 190 200
VLNLAFKHFK HKEGYSGTNT GNVHIIADLY AEVIGVLAQS KFQAVRKKFV
210 220 230 240 250
TELKELRQKE QSPHVVQSVI SLIMGMKFFR VKMYPVEDFE ASFQFMQECA
260 270 280 290 300
QYFLEVKDKD IKHALAGLFV EILIPVAAAV KNEVNVPCLK NFVEMLYQTT
310 320 330 340 350
FELSSRKKHS LALYPLITCL LCVSQKQFFL NNWHIFLQNC LSHLKNKDPK
360 370 380 390 400
MSRVALESLY RLLWVYVIRI KCESNTVTQS RLMSIVSALF PKGSRSVVPR
410 420 430 440 450
DTPLNIFVKI IQFIAQERLD FAMKEIIFDL LSVGKSTKTF TINPERMNIG
460 470 480 490 500
LRVFLVIADS LQQKDGEPPM PTTGVILPSG NTLRVKKIFL NKTLTDEEAK
510 520 530 540 550
VIGMSVYYPQ VRKALDSILR HLDKEVGRPM CMTSVQMSNK EPEDMITGER
560 570 580 590 600
KPKIDLFRTC IAAIPRLIPD GMSRTDLIEL LARLTIHMDE ELRALAFNTL
610 620 630 640 650
QALMLDFPDW REDVLSGFVY FIVREVTDVH PTLLDNAVKM LVQLINQWKQ
660 670 680 690 700
AAQMHNKNQD TQHGVANGAS HPPPLERSPY SNVFHVVEGF ALVILCSSRP
710 720 730 740 750
ATRRLAVSVL REIRALFALL EIPKGDDELA IDVMDRLSPS ILESFIHLTG
760 770 780 790 800
ADQTTLLYCP SSIDLQTLAE WNSSPISHQF DVISPSHIWI FAHVTQGQDP
810 820 830 840 850
WIISLSSFLK QENLPKHCST AVSYAWMFAY TRLQLLSPQV DINSPINAKK
860 870 880 890 900
VNTTTSSDSY IGLWRNYLIL CCSAATSSSS TSAGSVRCSP PETLASTPDS
910 920 930 940 950
GYSIDSKIIG IPSPSSLFKH IVPMMRSESM EITESLVLGL GRTNPGAFRE
960 970 980 990 1000
LIEELHPIIK EALERRPENM KRRRRRDILR VQLVRIFELL ADAGVISHSA
1010 1020 1030 1040 1050
SGGLDNETHF LNNTLLEYVD LTRQLLEAEN EKDSDTLKDI RCHFSALVAN
1060 1070 1080 1090 1100
IIQNVPVHQR RSIFPQQSLR HSLFMLFSHW AGPFSIMFTP LDRYSDRNMQ
1110 1120 1130 1140 1150
INRHQYCALK AMSAVLCCGP VADNVGLSSD GYLYKWLDNI LDSLDKKVHQ
1160 1170 1180 1190 1200
LGCEAVTLLL ELNPDQSNLM YWAVDRCYTG SGRVAAGCFK AIANVFQNRD
1210 1220 1230 1240 1250
YQCDTVMLLN LILFKAADSS RSIYEVAMQL LQILEPKMFR YAHKLEVQRT
1260 1270 1280 1290 1300
DGVLSQLSPL PHLYSVSYYQ LSEELARAYP ELTLAIFSEI SQRIQTAHPA
1310 1320 1330 1340 1350
GRQVMLHYLL PWMNNIELVD LKPLPTARRH DEDEDDSLKD RELMVTSRRW
1360 1370 1380 1390 1400
LRGEGWGSPQ ATAMVLNNLM YMTAKYGDEL AWSEVENVWT TLADGWPKNL
1410 1420 1430 1440 1450
KIILHFLISI CGVNSEPSLL PYVKKVIVYL GRDKTMQLLE ELVSELQLTD
1460 1470 1480 1490 1500
PVSSGVTHMD NPPYYRITSS YKIPSVTSGT TSSSNTMVAP TDGNPDNKPI
1510 1520 1530 1540 1550
KENIEESYVH LDIYSGLNSH LNRQHHRLES RYSSSSGGSY EEEKSDSMPL
1560 1570 1580 1590 1600
YSNWRLKVME HNQGEPLPFP PAGGCWSPLV DYVPETSSPG LPLHRCNIAV
1610 1620 1630 1640 1650
ILLTDLIIDH SVKVEWGSYL HLLLHAIFIG FDHCHPEVYE HCKRLLLHLL
1660 1670 1680 1690 1700
IVMGPNSNIR TVASVLLRNK EFNEPRVLTV KQVAHLDYNF TAGINDFIPD
1710 1720 1730 1740 1750
YQPSPMTDSG LSSSSTSSSI SLGNNSAAIS HLHTTILNEV DISVEQDGKV
1760 1770 1780 1790 1800
KTLMEFITSR KRGPLWNHED VSAKNPSIKS AEQLTTFLKH VVSVFKQSSS
1810 1820 1830 1840 1850
EGIHLEHHLS EVALQTALSC SSRHYAGRSF QIFRALKQPL TATTLSDVLS
1860 1870 1880 1890 1900
RLVETVGDPG EDAQGFVIEL LLTLESAIDT LAETMKHYDL LSALSQTSYH
1910 1920 1930 1940 1950
DPIMGNKYAA NRKSTGQLNL STSPINSSSY LGYNSNARSN SLRLSLIGDR
1960 1970 1980 1990 2000
RGDRRRSNTL DIMDGRINHS SSLARTRSLS SLREKGMYDV QSTTEPTNLM
2010 2020 2030 2040 2050
ATIFWIAASL LESDYEYEYL LALRLLNKLL IHLPLDKSES REKIENVQSK
2060 2070 2080 2090 2100
LKWTNFPGLQ QLFLKGFTSA STQEMTVHLL SKLISVSKHT LVDPSQLSGF
2110 2120 2130 2140 2150
PLNILCLLPH LIQHFDSPTQ FCKETASRIA KVCAEEKCPT LVNLAHMMSL
2160 2170 2180 2190 2200
YSTHTYSRDC SNWINVVCRY LHDSFSDTTF NLVTYLAELL EKGLSSMQQS
2210 2220 2230 2240 2250
LLQIIYSLLS HIDLSAAPAK QFNLEIIKII GKYVQSPYWK EALNILKLVV
2260 2270 2280 2290 2300
SRSASLVVPS DIPKTYGGDT GSPEISFTKI FNNVSKELPG KTLDFHFDIS
2310 2320 2330 2340 2350
ETPIIGNKYG DQHSAAGRNG KPKVIAVTRS TSSTSSGSNS NALVPVSWKR
2360 2370 2380 2390 2400
PQLSQRRTRE KLMNVLSLCG PESGLPKNPS VVFSSNEDLE VGDQQTSLIS
2410 2420 2430 2440 2450
TTEDINQEEE VAVEDNSSEQ QFGVFKDFDF LDVELEDAEG ESMDNFNWGV
2460 2470 2480 2490 2500
RRRSLDSIDK GDTPSLQEYQ CSSSTPSLNL TNQEDTDESS EEEAALTASQ
2510 2520 2530 2540 2550
ILSRTQMLNS DSATDETIPD HPDLLLQSED STGSITTEEV LQIRDETPTL
2560 2570 2580 2590 2600
EASLDNANSR LPEDTTSVLK EEHVTTFEDE GSYIIQEQQE SLVCQGILDL
2610 2620 2630 2640 2650
EETEMPEPLA PESYPESVCE EDVTLALKEL DERCEEEEAD FSGLSSQDEE
2660 2670 2680 2690 2700
EQDGFPEVQT SPLPSPFLSA IIAAFQPVAY DDEEEAWRCH VNQMLSDTDG
2710 2720 2730 2740 2750
SSAVFTFHVF SRLFQTIQRK FGEITNEAVS FLGDSLQRIG TKFKSSLEVM
2760 2770 2780 2790 2800
MLCSECPTVF VDAETLMSCG LLETLKFGVL ELQEHLDTYN VKREAAEQWL
2810 2820 2830 2840 2850
DDCKRTFGAK EDMYRINTDA QQMEILAELE LCRRLYKLHF QLLLLFQAYC
2860 2870 2880 2890 2900
KLINQVNTIK NEAEVINMSE ELAQLESILK EAESASENEE IDISKAAQTT
2910 2920 2930 2940 2950
IETAIHSLIE TLKNKEFISA VAQVKAFRSL WPSDIFGSCE DDPVQTLLHI
2960 2970 2980 2990 3000
YFHHQTLGQT GSFAVIGSNL DMSEANYKLM ELNLEIRESL RMVQSYQLLA
3010
QAKPMGNMVS TGF
Length:3,013
Mass (Da):339,598
Last modified:February 6, 2007 - v2
Checksum:iDFD7FEC47792DA1E
GO
Isoform 2 (identifier: O94915-2) [UniParc]FASTAAdd to basket

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

Show »
Length:403
Mass (Da):45,597
Checksum:iAF556A9BE526EFF4
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti890 – 8901P → S.1 Publication
Corresponds to variant rs376571442 [ dbSNP | Ensembl ].
VAR_066994
Natural varianti1878 – 18781I → V.
Corresponds to variant rs7670111 [ dbSNP | Ensembl ].
VAR_053832

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 26042604Missing in isoform 2. 1 PublicationVSP_023038Add
BLAST
Alternative sequencei2822 – 28276Missing in isoform 2. 1 PublicationVSP_023039

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS43227.1. [O94915-1]
PIRiT46389.
RefSeqiNP_055845.1. NM_015030.1. [O94915-1]
UniGeneiHs.595553.

Genome annotation databases

EnsembliENST00000358350; ENSP00000351113; ENSG00000075539. [O94915-1]
ENST00000503238; ENSP00000426064; ENSG00000075539. [O94915-1]
ENST00000507873; ENSP00000422408; ENSG00000075539. [O94915-2]
GeneIDi285527.
KEGGihsa:285527.
UCSCiuc003gyh.1. human. [O94915-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
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.
CCDSiCCDS43227.1. [O94915-1]
PIRiT46389.
RefSeqiNP_055845.1. NM_015030.1. [O94915-1]
UniGeneiHs.595553.

3D structure databases

ProteinModelPortaliO94915.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi130134. 27 interactions.
IntActiO94915. 14 interactions.
MINTiMINT-1632000.
STRINGi9606.ENSP00000351113.

PTM databases

iPTMnetiO94915.
PhosphoSiteiO94915.

Polymorphism and mutation databases

BioMutaiFRYL.

Proteomic databases

EPDiO94915.
MaxQBiO94915.
PaxDbiO94915.
PeptideAtlasiO94915.
PRIDEiO94915.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000358350; ENSP00000351113; ENSG00000075539. [O94915-1]
ENST00000503238; ENSP00000426064; ENSG00000075539. [O94915-1]
ENST00000507873; ENSP00000422408; ENSG00000075539. [O94915-2]
GeneIDi285527.
KEGGihsa:285527.
UCSCiuc003gyh.1. human. [O94915-1]

Organism-specific databases

CTDi285527.
GeneCardsiFRYL.
H-InvDBHIX0004200.
HGNCiHGNC:29127. FRYL.
HPAiHPA031106.
HPA031107.
neXtProtiNX_O94915.
PharmGKBiPA134967984.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1825. Eukaryota.
ENOG410XSZS. LUCA.
GeneTreeiENSGT00610000086058.
HOGENOMiHOG000112653.
HOVERGENiHBG081541.
InParanoidiO94915.
OMAiSVFQNRD.
OrthoDBiEOG091G003A.
PhylomeDBiO94915.
TreeFamiTF313568.

Miscellaneous databases

ChiTaRSiFRYL. human.
GenomeRNAii285527.
PROiO94915.

Gene expression databases

BgeeiENSG00000075539.
CleanExiHS_FRYL.
ExpressionAtlasiO94915. baseline and differential.
GenevisibleiO94915. HS.

Family and domain databases

Gene3Di1.25.10.10. 11 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR025614. Cell_morpho_N.
IPR025481. Cell_Morphogen_C.
IPR029473. MOR2-PAG1_mid.
[Graphical view]
PfamiPF14225. MOR2-PAG1_C. 1 hit.
PF14228. MOR2-PAG1_mid. 4 hits.
PF14222. MOR2-PAG1_N. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 7 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiFRYL_HUMAN
AccessioniPrimary (citable) accession number: O94915
Secondary accession number(s): O95640, Q8WTZ5, Q9NT40
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: February 6, 2007
Last modified: September 7, 2016
This is version 116 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: 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. 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.