Q7L099 (RUFY3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein RUFY3

Alternative name(s):
Rap2-interacting protein x
Short name=RIPx
Single axon-regulated protein
Short name=Singar

Gene names

Name:	RUFY3
Synonyms:	KIAA0871

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	469 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Implicated in the formation of a single axon by developing neurons. May inhibit the formation of additional axons by inhibition of PI3K in minor neuronal processes By similarity.
Subunit structure	Interacts with PIK3CA and PIK3R1 By similarity.
Subcellular location	Cell projection By similarity. Note: Enriched in F-actin enriched filopodia and lamellipodia of growth cones of axons and minor processes of hippocampal neurons in culture By similarity.
Post-translational modification	Isoform 1 is partially phosphorylated By similarity.
Sequence similarities	Contains 1 RUN domain.
Sequence caution	The sequence BAA74894.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Biological process	Differentiation Neurogenesis
Cellular component	Cell projection
Coding sequence diversity	Alternative splicing
Domain	Coiled coil
Molecular function	Developmental protein
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	negative regulation of axonogenesis Inferred from sequence or structural similarity. Source: HGNC
Cellular_component	filopodium Inferred from sequence or structural similarity. Source: HGNC growth cone Inferred from sequence or structural similarity. Source: HGNC
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q7L099-1)

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: Q7L099-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: MSALTPPTDM...TPDPEPTHED → MAETPPPPTA...GGSSGSGKHH
     446-446: S → R
     447-469: Missing.

Note: Ref.5 (AAF17208) sequence has a frameshift in position 116.

Isoform 3 (identifier: Q7L099-3)

The sequence of this isoform differs from the canonical sequence as follows:
     446-469: SEKDLVKQAKTLNSAANKLIPKHH → RLRQAERSRQ...LMKQYSTSPS

Isoform 4 (identifier: Q7L099-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-53: Missing.
     54-58: PEPTH → MRDDT
     446-469: SEKDLVKQAKTLNSAANKLIPKHH → RLRQAERSRQ...LMKQYSTSPS

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 469	469	Protein RUFY3		PRO_0000245833
Regions
	Domain	95 – 227	133	RUN
	Coiled coil	267 – 464	198	Potential
Natural variations
	Alternative sequence	1 – 60	60	MSALT…PTHED → MAETPPPPTAGAESCSEEPA RGGEWRPEEPRRAPAGGTDR EGEAGPPPASPAGQSEPDSP VAAPFFLLYPGDGGAGFGVR PPPQQQRSWRTPPSPGSPLP FLLLSYPSGGGGSSGSGKHH in isoform 2.		VSP_041250
	Alternative sequence	1 – 53	53	Missing in isoform 4.		VSP_041251
	Alternative sequence	54 – 58	5	PEPTH → MRDDT in isoform 4.		VSP_041252
	Alternative sequence	446 – 469	24	SEKDL…IPKHH → RLRQAERSRQSAELDNRLFK QDFGDKINSLQLEVEELTRQ RNQLELELKQEKERRLQNDR SIPGRGSQKSESKMDGKHKM QEENVKLKKPLEESHRLQPH PMDEQDQLLLSEKPQLCQLC QEDGSLTKNVCKNCSGTFCD ACSTNELPLPSSIKLERVCN PCHKHLMKQYSTSPS in isoform 3 and isoform 4.		VSP_041253
	Alternative sequence	446	1	S → R in isoform 2.		VSP_041254
	Alternative sequence	447 – 469	23	Missing in isoform 2.		VSP_041255
Experimental info
	Sequence conflict	151	1	K → R in AAF17208. Ref.5
	Sequence conflict	357	1	L → S in BAG63879. Ref.2
Isoform 4:
	Sequence conflict	304	1	L → S in BAG63879. Ref.2
	Sequence conflict	431	1	R → G in BAG63879. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: E8657DF068BE4113	FASTA	469	52,965
	10 20 30 40 50 60 MSALTPPTDM PTPTTDKITQ AAMETIYLCK FRVSMDGEWL CLRELDDISL TPDPEPTHED 70 80 90 100 110 120 PNYLMANERM NLMNMAKLSI KGLIESALNL GRTLDSDYAP LQQFFVVMEH CLKHGLKAKK 130 140 150 160 170 180 TFLGQNKSFW GPLELVEKLV PEAAEITASV KDLPGLKTPV GRGRAWLRLA LMQKKLSEYM 190 200 210 220 230 240 KALINKKELL SEFYEPNALM MEEEGAIIAG LLVGLNVIDA NFCMKGEDLD SQVGVIDFSM 250 260 270 280 290 300 YLKDGNSSKG TEGDGQITAI LDQKNYVEEL NRHLNATVNN LQAKVDALEK SNTKLTEELA 310 320 330 340 350 360 VANNRIITLQ EEMERVKEES SYILESNRKG PKQDRTAEGQ ALSEARKHLK EETQLRLDVE 370 380 390 400 410 420 KELEMQISMR QEMELAMKML EKDVCEKQDA LVSLRQQLDD LRALKHELAF KLQSSDLGVK 430 440 450 460 QKSELNSRLE EKTNQMAATI KQLEQSEKDL VKQAKTLNSA ANKLIPKHH
	Isoform 2 [UniParc]. Checksum: 2721E1192CB440AB	FASTA	506	55,875
	10 20 30 40 50 60 MAETPPPPTA GAESCSEEPA RGGEWRPEEP RRAPAGGTDR EGEAGPPPAS PAGQSEPDSP 70 80 90 100 110 120 VAAPFFLLYP GDGGAGFGVR PPPQQQRSWR TPPSPGSPLP FLLLSYPSGG GGSSGSGKHH 130 140 150 160 170 180 PNYLMANERM NLMNMAKLSI KGLIESALNL GRTLDSDYAP LQQFFVVMEH CLKHGLKAKK 190 200 210 220 230 240 TFLGQNKSFW GPLELVEKLV PEAAEITASV KDLPGLKTPV GRGRAWLRLA LMQKKLSEYM 250 260 270 280 290 300 KALINKKELL SEFYEPNALM MEEEGAIIAG LLVGLNVIDA NFCMKGEDLD SQVGVIDFSM 310 320 330 340 350 360 YLKDGNSSKG TEGDGQITAI LDQKNYVEEL NRHLNATVNN LQAKVDALEK SNTKLTEELA 370 380 390 400 410 420 VANNRIITLQ EEMERVKEES SYILESNRKG PKQDRTAEGQ ALSEARKHLK EETQLRLDVE 430 440 450 460 470 480 KELEMQISMR QEMELAMKML EKDVCEKQDA LVSLRQQLDD LRALKHELAF KLQSSDLGVK 490 500 QKSELNSRLE EKTNQMAATI KQLEQR
	Isoform 3 [UniParc]. Checksum: D703020DE174DB6D	FASTA	620	70,610
	10 20 30 40 50 60 MSALTPPTDM PTPTTDKITQ AAMETIYLCK FRVSMDGEWL CLRELDDISL TPDPEPTHED 70 80 90 100 110 120 PNYLMANERM NLMNMAKLSI KGLIESALNL GRTLDSDYAP LQQFFVVMEH CLKHGLKAKK 130 140 150 160 170 180 TFLGQNKSFW GPLELVEKLV PEAAEITASV KDLPGLKTPV GRGRAWLRLA LMQKKLSEYM 190 200 210 220 230 240 KALINKKELL SEFYEPNALM MEEEGAIIAG LLVGLNVIDA NFCMKGEDLD SQVGVIDFSM 250 260 270 280 290 300 YLKDGNSSKG TEGDGQITAI LDQKNYVEEL NRHLNATVNN LQAKVDALEK SNTKLTEELA 310 320 330 340 350 360 VANNRIITLQ EEMERVKEES SYILESNRKG PKQDRTAEGQ ALSEARKHLK EETQLRLDVE 370 380 390 400 410 420 KELEMQISMR QEMELAMKML EKDVCEKQDA LVSLRQQLDD LRALKHELAF KLQSSDLGVK 430 440 450 460 470 480 QKSELNSRLE EKTNQMAATI KQLEQRLRQA ERSRQSAELD NRLFKQDFGD KINSLQLEVE 490 500 510 520 530 540 ELTRQRNQLE LELKQEKERR LQNDRSIPGR GSQKSESKMD GKHKMQEENV KLKKPLEESH 550 560 570 580 590 600 RLQPHPMDEQ DQLLLSEKPQ LCQLCQEDGS LTKNVCKNCS GTFCDACSTN ELPLPSSIKL 610 620 ERVCNPCHKH LMKQYSTSPS
	Isoform 4 [UniParc]. Checksum: 51B372D53E50F9A3	FASTA	567	64,721
	10 20 30 40 50 60 MRDDTEDPNY LMANERMNLM NMAKLSIKGL IESALNLGRT LDSDYAPLQQ FFVVMEHCLK 70 80 90 100 110 120 HGLKAKKTFL GQNKSFWGPL ELVEKLVPEA AEITASVKDL PGLKTPVGRG RAWLRLALMQ 130 140 150 160 170 180 KKLSEYMKAL INKKELLSEF YEPNALMMEE EGAIIAGLLV GLNVIDANFC MKGEDLDSQV 190 200 210 220 230 240 GVIDFSMYLK DGNSSKGTEG DGQITAILDQ KNYVEELNRH LNATVNNLQA KVDALEKSNT 250 260 270 280 290 300 KLTEELAVAN NRIITLQEEM ERVKEESSYI LESNRKGPKQ DRTAEGQALS EARKHLKEET 310 320 330 340 350 360 QLRLDVEKEL EMQISMRQEM ELAMKMLEKD VCEKQDALVS LRQQLDDLRA LKHELAFKLQ 370 380 390 400 410 420 SSDLGVKQKS ELNSRLEEKT NQMAATIKQL EQRLRQAERS RQSAELDNRL FKQDFGDKIN 430 440 450 460 470 480 SLQLEVEELT RQRNQLELEL KQEKERRLQN DRSIPGRGSQ KSESKMDGKH KMQEENVKLK 490 500 510 520 530 540 KPLEESHRLQ PHPMDEQDQL LLSEKPQLCQ LCQEDGSLTK NVCKNCSGTF CDACSTNELP 550 560 LPSSIKLERV CNPCHKHLMK QYSTSPS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4). Tissue: Embryo and Testis.
[3]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[5]	"A novel gene expressed in human adrenal gland." Peng Y., Gu Y., Gu J., Huang Q., Fu S., Wu T., Dong H., Jin W., Fu G., Han Z., Chen Z., Wang Y. Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Adrenal gland.
[6]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB020678 mRNA. Translation: BAA74894.2. Different initiation. AK000911 mRNA. Translation: BAG50837.1. AK302637 mRNA. Translation: BAG63879.1. AC009570 Genomic DNA. No translation available. BC051716 mRNA. Translation: AAH51716.1. AF112221 mRNA. Translation: AAF17208.1. Frameshift.
IPI	IPI00033573. IPI00455620. IPI00908586. IPI00965333.
RefSeq	NP_001032519.1. NM_001037442.2. NP_001124181.1. NM_001130709.1. NP_055776.1. NM_014961.3.
UniGene	Hs.718875.
3D structure databases
ProteinModelPortal	Q7L099.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q7L099. 2 interactions.
MINT	MINT-1373309.
STRING	9606.ENSP00000370394.
PTM databases
PhosphoSite	Q7L099.
Polymorphism databases
DMDM	74738521.
Proteomic databases
PaxDb	Q7L099.
PRIDE	Q7L099.
Protocols and materials databases
DNASU	22902.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000226328; ENSP00000226328; ENSG00000018189. ENST00000381006; ENSP00000370394; ENSG00000018189. ENST00000417478; ENSP00000399771; ENSG00000018189. ENST00000502653; ENSP00000425400; ENSG00000018189.
GeneID	22902.
KEGG	hsa:22902.
UCSC	uc003hfp.4. human. uc003hfq.3. human. uc003hfr.3. human. uc011cay.2. human.
Organism-specific databases
CTD	22902.
GeneCards	GC04P071570.
HGNC	HGNC:30285. RUFY3.
HPA	HPA022952. HPA022970.
MIM	611194. gene.
neXtProt	NX_Q7L099.
PharmGKB	PA142670961.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG270133.
HOGENOM	HOG000030913.
HOVERGEN	HBG057053.
OMA	VCNPCHK.
PhylomeDB	Q7L099.
Gene expression databases
ArrayExpress	Q7L099.
Bgee	Q7L099.
CleanEx	HS_RUFY3.
Genevestigator	Q7L099.
GermOnline	ENSG00000018189. Homo sapiens.
Family and domain databases
InterPro	IPR004012. Run. [Graphical view]
Pfam	PF02759. RUN. 1 hit. [Graphical view]
SMART	SM00593. RUN. 1 hit. [Graphical view]
PROSITE	PS50826. RUN. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	RUFY3. human.
GenomeRNAi	22902.
NextBio	43539.
SOURCE	Search...

Entry information

Entry name

RUFY3_HUMAN

Accession

Primary (citable) accession number: Q7L099
Secondary accession number(s): B3KM25 , B4DYW7, D9N163, O94948, Q9UI00

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 11, 2006
Last sequence update:	July 5, 2004
Last modified:	May 1, 2013
This is version 74 of the entry and version 1 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.