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Q7L099 (RUFY3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length469 AA.
Sequence statusComplete.
Protein existenceEvidence 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 processDifferentiation
Neurogenesis
   Cellular componentCell projection
   Coding sequence diversityAlternative splicing
   DomainCoiled coil
   Molecular functionDevelopmental protein
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processnegative regulation of axonogenesis

Inferred from sequence or structural similarity. Source: HGNC

   Cellular_componentfilopodium

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 469469Protein RUFY3
PRO_0000245833

Regions

Domain95 – 227133RUN
Coiled coil267 – 464198 Potential

Natural variations

Alternative sequence1 – 6060MSALT…PTHED → MAETPPPPTAGAESCSEEPA RGGEWRPEEPRRAPAGGTDR EGEAGPPPASPAGQSEPDSP VAAPFFLLYPGDGGAGFGVR PPPQQQRSWRTPPSPGSPLP FLLLSYPSGGGGSSGSGKHH in isoform 2.
VSP_041250
Alternative sequence1 – 5353Missing in isoform 4.
VSP_041251
Alternative sequence54 – 585PEPTH → MRDDT in isoform 4.
VSP_041252
Alternative sequence446 – 46924SEKDL…IPKHH → RLRQAERSRQSAELDNRLFK QDFGDKINSLQLEVEELTRQ RNQLELELKQEKERRLQNDR SIPGRGSQKSESKMDGKHKM QEENVKLKKPLEESHRLQPH PMDEQDQLLLSEKPQLCQLC QEDGSLTKNVCKNCSGTFCD ACSTNELPLPSSIKLERVCN PCHKHLMKQYSTSPS in isoform 3 and isoform 4.
VSP_041253
Alternative sequence4461S → R in isoform 2.
VSP_041254
Alternative sequence447 – 46923Missing in isoform 2.
VSP_041255

Experimental info

Sequence conflict1511K → R in AAF17208. Ref.5
Sequence conflict3571L → S in BAG63879. Ref.2
Isoform 4:
Sequence conflict3041L → S in BAG63879. Ref.2
Sequence conflict4311R → G in BAG63879. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 5, 2004. Version 1.
Checksum: E8657DF068BE4113

FASTA46952,965
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 2721E1192CB440AB
Show »

FASTA50655,875
Isoform 3 [UniParc].

Checksum: D703020DE174DB6D
Show »

FASTA62070,610
Isoform 4 [UniParc].

Checksum: 51B372D53E50F9A3
Show »

FASTA56764,721

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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.
CCDSCCDS34001.1. [Q7L099-3]
CCDS3547.1. [Q7L099-1]
CCDS47068.1. [Q7L099-2]
RefSeqNP_001032519.1. NM_001037442.3. [Q7L099-3]
NP_001124181.1. NM_001130709.1. [Q7L099-2]
NP_055776.1. NM_014961.4. [Q7L099-1]
UniGeneHs.740904.

3D structure databases

ProteinModelPortalQ7L099.
SMRQ7L099. Positions 65-231.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116566. 3 interactions.
IntActQ7L099. 3 interactions.
MINTMINT-1373309.
STRING9606.ENSP00000370394.

PTM databases

PhosphoSiteQ7L099.

Polymorphism databases

DMDM74738521.

Proteomic databases

MaxQBQ7L099.
PaxDbQ7L099.
PRIDEQ7L099.

Protocols and materials databases

DNASU22902.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000226328; ENSP00000226328; ENSG00000018189. [Q7L099-1]
ENST00000381006; ENSP00000370394; ENSG00000018189. [Q7L099-3]
ENST00000417478; ENSP00000399771; ENSG00000018189. [Q7L099-2]
ENST00000502653; ENSP00000425400; ENSG00000018189. [Q7L099-4]
GeneID22902.
KEGGhsa:22902.
UCSCuc003hfp.4. human. [Q7L099-2]
uc003hfq.3. human. [Q7L099-1]
uc003hfr.3. human. [Q7L099-3]
uc011cay.2. human. [Q7L099-4]

Organism-specific databases

CTD22902.
GeneCardsGC04P071571.
HGNCHGNC:30285. RUFY3.
HPAHPA022952.
HPA022970.
MIM611194. gene.
neXtProtNX_Q7L099.
PharmGKBPA142670961.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG270133.
HOGENOMHOG000030913.
HOVERGENHBG057053.
OMAYYSANIA.
OrthoDBEOG722J98.
PhylomeDBQ7L099.
TreeFamTF323904.

Gene expression databases

ArrayExpressQ7L099.
BgeeQ7L099.
CleanExHS_RUFY3.
GenevestigatorQ7L099.

Family and domain databases

InterProIPR004012. Run.
[Graphical view]
PfamPF02759. RUN. 1 hit.
[Graphical view]
SMARTSM00593. RUN. 1 hit.
[Graphical view]
PROSITEPS50826. RUN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSRUFY3. human.
GenomeRNAi22902.
NextBio43539.
PROQ7L099.
SOURCESearch...

Entry information

Entry nameRUFY3_HUMAN
AccessionPrimary (citable) accession number: Q7L099
Secondary accession number(s): B3KM25 expand/collapse secondary AC list , B4DYW7, D9N163, O94948, Q9UI00
Entry history
Integrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: July 5, 2004
Last modified: July 9, 2014
This is version 85 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM