Reviewed, UniProtKB/Swiss-Prot Q9Y608 (LRRF2_HUMAN)

Names and origin

Protein names

Recommended name:
    Leucine-rich repeat flightless-interacting protein 2
Alternative name(s):
    LRR FLII-interacting protein 2

Gene names

Name:

LRRFIP2

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	721 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	May function as activator of the canonical Wnt signaling pathway, in association with DVL3, upstream of CTNNB1/beta-catenin. Ref.5
Subunit structure	Interacts (via N-terminus) with DVL3. Interacts with FLII. Ref.5 Ref.1
Tissue specificity	Ubiquitous with higher expression in heart and skeletal muscle. Ref.1
Sequence similarities	Belongs to the LRRFIP family.

Ontologies

Keywords
Biological process	Wnt signaling pathway
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	Wnt receptor signaling pathway Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	LRR domain binding Ref.1 Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
DVL3	Q92997	1	EBI-1023718,EBI-739789

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9Y608-1)

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: Q9Y608-2)

The sequence of this isoform differs from the canonical sequence as follows:
     60-291: Missing.
     346-369: Missing.
     457-521: Missing.

Isoform 3 (identifier: Q9Y608-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-621: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 721	721	Leucine-rich repeat flightless-interacting protein 2		PRO_0000245246
Regions
	Region	1 – 370	370	DVL3-binding
	Coiled coil	22 – 49	28	Potential
	Coiled coil	349 – 524	176	Potential
	Coiled coil	566 – 714	149	Potential
	Compositional bias	118 – 342	225	Ser-rich
Amino acid modifications
	Modified residue	328	1	Phosphoserine Ref.6 Ref.7 Ref.8 Ref.9 Ref.10
	Modified residue	331	1	Phosphothreonine By similarity
	Modified residue	333	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	1 – 621	621	Missing in isoform 3.		VSP_019674
	Alternative sequence	60 – 291	232	Missing in isoform 2.		VSP_019675
	Alternative sequence	346 – 369	24	Missing in isoform 2.		VSP_019676
	Alternative sequence	457 – 521	65	Missing in isoform 2.		VSP_019677
	Natural variant	143	1	K → E: dbSNP rs34902788.		VAR_050001

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1999. Version 1. Checksum: 94B18B274656CB0B	FASTA	721	82,171
	10 20 30 40 50 60 MGTPASGRKR TPVKDRFSAE DEALSNIARE AEARLAAKRA ARAEARDIRM RELERQQKEY 70 80 90 100 110 120 SLHSFDRKWG QIQKWLEDSE RARYSHRSSH HRPYLGVEDA LSIRSVGSHR YDMFKDRSSR 130 140 150 160 170 180 LSSLNHSYSH SHGMKKRSSD SHKDLLSGLY FDQRNYSSLR HSKPTSAYYT RQSSSLYSDP 190 200 210 220 230 240 LATYKSDRAS PTANSGLLRS ASLASLYNGG LYNPYGPRTP SECSYYSSRI SSARSSPGFT 250 260 270 280 290 300 NDDTASIVSS DRASRGRRES VVSAADYFSR SNRRGSVVSE VDDISIPDLS SLDEKSDKQY 310 320 330 340 350 360 AENYTRPSSR NSASATTPLS GNSSRRGSGD TSSLIDPDTS LSELRDIYDL KDQIQDVEGR 370 380 390 400 410 420 YMQGLKELKE SLSEVEEKYK KAMVSNAQLD NEKNNLIYQV DTLKDVIEEQ EEQMAEFYRE 430 440 450 460 470 480 NEEKSKELER QKHMCSVLQH KMEELKEGLR QRDELIEEKQ RMQQKIDTMT KEVFDLQETL 490 500 510 520 530 540 LWKDKKIGAL EKQKEYIACL RNERDMLREE LADLQETVKT GEKHGLVIIP DGTPNGDVSH 550 560 570 580 590 600 EPVAGAITVV SQEAAQVLES AGEGPLDVRL RKLAGEKEEL LSQIRKLKLQ LEEERQKCSR 610 620 630 640 650 660 NDGTVGDLAG LQNGSDLQFI EMQRDANRQI SEYKFKLSKA EQDITTLEQS ISRLEGQVLR 670 680 690 700 710 720 YKTAAENAEK VEDELKAEKR KLQRELRTAL DKIEEMEMTN SHLAKRLEKM KANRTALLAQ Q
	Isoform 2. Checksum: AD687735EAFE04F6	FASTA	400	45,414
	10 20 30 40 50 60 MGTPASGRKR TPVKDRFSAE DEALSNIARE AEARLAAKRA ARAEARDIRM RELERQQKEL 70 80 90 100 110 120 DEKSDKQYAE NYTRPSSRNS ASATTPLSGN SSRRGSGDTS SLIDPDTSLS ELRESLSEVE 130 140 150 160 170 180 EKYKKAMVSN AQLDNEKNNL IYQVDTLKDV IEEQEEQMAE FYRENEEKSK ELERQKHMCS 190 200 210 220 230 240 VLQHKMEELK EGLRQRDELI EKHGLVIIPD GTPNGDVSHE PVAGAITVVS QEAAQVLESA 250 260 270 280 290 300 GEGPLDVRLR KLAGEKEELL SQIRKLKLQL EEERQKCSRN DGTVGDLAGL QNGSDLQFIE 310 320 330 340 350 360 MQRDANRQIS EYKFKLSKAE QDITTLEQSI SRLEGQVLRY KTAAENAEKV EDELKAEKRK 370 380 390 400 LQRELRTALD KIEEMEMTNS HLAKRLEKMK ANRTALLAQQ
	Isoform 3. Checksum: EFCDC5B6AC68785F	FASTA	100	11,736
	10 20 30 40 50 60 MQRDANRQIS EYKFKLSKAE QDITTLEQSI SRLEGQVLRY KTAAENAEKV EDELKAEKRK 70 80 90 100 LQRELRTALD KIEEMEMTNS HLAKRLEKMK ANRTALLAQQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Novel proteins interacting with the leucine-rich repeat domain of human flightless-I identified by the yeast two-hybrid system." Fong K.S.K., de Couet H.G. Genomics 58:146-157(1999) [PubMed: 10366446] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), REGION, TISSUE SPECIFICITY, INTERACTION WITH FLII. Tissue: Skeletal muscle.
[2]	"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] (ISOFORM 2). Tissue: Colon mucosa.
[3]	"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] (ISOFORM 3). Tissue: Testis.
[4]	"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: Skin.
[5]	"Identification of the Wnt signaling activator leucine-rich repeat in Flightless interaction protein 2 by a genome-wide functional analysis." Liu J., Bang A.G., Kintner C., Orth A.P., Chanda S.K., Ding S., Schultz P.G. Proc. Natl. Acad. Sci. U.S.A. 102:1927-1932(2005) [PubMed: 15677333] [Abstract] Cited for: FUNCTION, INTERACTION WITH DVL3.
[6]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-328, MASS SPECTROMETRY. Tissue: Epithelium.
[7]	"Quantitative phosphoproteome profiling of Wnt3a-mediated signaling network: indicating the involvement of ribonucleoside-diphosphate reductase M2 subunit phosphorylation at residue serine 20 in canonical Wnt signal transduction." Tang L.-Y., Deng N., Wang L.-S., Dai J., Wang Z.-L., Jiang X.-S., Li S.-J., Li L., Sheng Q.-H., Wu D.-Q., Li L., Zeng R. Mol. Cell. Proteomics 6:1952-1967(2007) [PubMed: 17693683] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-328, MASS SPECTROMETRY.
[8]	"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-328, MASS SPECTROMETRY.
[9]	"Phosphorylation analysis of primary human T lymphocytes using sequential IMAC and titanium oxide enrichment." Carrascal M., Ovelleiro D., Casas V., Gay M., Abian J. J. Proteome Res. 7:5167-5176(2008) [PubMed: 19367720] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-328, MASS SPECTROMETRY. Tissue: T-cell.
[10]	"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-328, MASS SPECTROMETRY.
[11]	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.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF115509 mRNA. Translation: AAD41257.1. AK000255 mRNA. Translation: BAA91035.1. CR749705 mRNA. Translation: CAH18481.1. BC053668 mRNA. Translation: AAH53668.1.
IPI	IPI00007277. IPI00015103. IPI00760735.
PIR	T50611.
RefSeq	NP_006300.1. NP_060194.1.
UniGene	Hs.475319
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9Y608. 4 interactions.
STRING	Q9Y608.
PTM databases
PhosphoSite	Q9Y608.
Proteomic databases
PRIDE	Q9Y608.
Genome annotation databases
Ensembl	ENST00000336686; ENSP00000338727; ENSG00000093167; Homo sapiens. [Genome view] ENST00000354379; ENSP00000346349; ENSG00000093167; Homo sapiens. [Genome view] ENST00000396428; ENSP00000379705; ENSG00000093167; Homo sapiens. [Genome view] ENST00000416425; ENSP00000409574; ENSG00000093167; Homo sapiens. [Genome view] ENST00000421276; ENSP00000416364; ENSG00000093167; Homo sapiens. [Genome view] ENST00000421307; ENSP00000392217; ENSG00000093167; Homo sapiens. [Genome view] ENST00000434749; ENSP00000416907; ENSG00000093167; Homo sapiens. [Genome view] ENST00000436858; ENSP00000416013; ENSG00000093167; Homo sapiens. [Genome view] ENST00000438374; ENSP00000412206; ENSG00000093167; Homo sapiens. [Genome view] ENST00000440230; ENSP00000405480; ENSG00000093167; Homo sapiens. [Genome view] ENST00000440742; ENSP00000413026; ENSG00000093167; Homo sapiens. [Genome view] ENST00000452650; ENSP00000396282; ENSG00000093167; Homo sapiens. [Genome view] ENST00000452742; ENSP00000391360; ENSG00000093167; Homo sapiens. [Genome view]
GeneID	9209.
UCSC	uc003cgp.1. human. uc003cgq.1. human.
Organism-specific databases
CTD	9209.
GeneCards	GC03M037069.
H-InvDB	HIX0003169.
HGNC	HGNC:6703. LRRFIP2.
PharmGKB	PA30466.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q9Y608.
HOVERGEN	Q9Y608.
OMA	QDVEGRY.
Gene expression databases
ArrayExpress	Q9Y608.
Bgee	Q9Y608.
CleanEx	HS_LRRFIP2.
Genevestigator	Q9Y608.
GermOnline	ENSG00000093167. Homo sapiens.
Family and domain databases
InterPro	IPR019139. Leu-rich_rep_flightless-int_pr. [Graphical view]
PANTHER	PTHR19212. Leu-rich_rep_flightless-int_pr. 1 hit.
Pfam	PF09738. DUF2051. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	34521.

Entry information

Entry name

LRRF2_HUMAN

Accession

Primary (citable) accession number: Q9Y608
Secondary accession number(s): Q68CV3, Q9NXH5

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 11, 2006
Last sequence update:	November 1, 1999
Last modified:	November 3, 2009
This is version 55 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.