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Q7L099

- RUFY3_HUMAN

UniProt

Q7L099 - RUFY3_HUMAN

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Protein

Protein RUFY3

Gene

RUFY3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli

Functioni

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).By similarity

GO - Biological processi

  1. negative regulation of axonogenesis Source: HGNC
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Neurogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Protein RUFY3
Alternative name(s):
Rap2-interacting protein x
Short name:
RIPx
Single axon-regulated protein
Short name:
Singar
Gene namesi
Name:RUFY3
Synonyms:KIAA0871
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:30285. RUFY3.

Subcellular locationi

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

GO - Cellular componenti

  1. filopodium Source: HGNC
  2. growth cone Source: HGNC
Complete GO annotation...

Keywords - Cellular componenti

Cell projection

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142670961.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 469469Protein RUFY3PRO_0000245833Add
BLAST

Post-translational modificationi

Isoform 1 is partially phosphorylated.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ7L099.
PaxDbiQ7L099.
PRIDEiQ7L099.

PTM databases

PhosphoSiteiQ7L099.

Expressioni

Gene expression databases

BgeeiQ7L099.
CleanExiHS_RUFY3.
ExpressionAtlasiQ7L099. baseline and differential.
GenevestigatoriQ7L099.

Organism-specific databases

HPAiHPA022952.
HPA022970.

Interactioni

Subunit structurei

Interacts with PIK3CA and PIK3R1.By similarity

Protein-protein interaction databases

BioGridi116566. 5 interactions.
IntActiQ7L099. 3 interactions.
MINTiMINT-1373309.
STRINGi9606.ENSP00000370394.

Structurei

3D structure databases

ProteinModelPortaliQ7L099.
SMRiQ7L099. Positions 65-231, 260-319.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini95 – 227133RUNPROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili267 – 464198Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Contains 1 RUN domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG270133.
GeneTreeiENSGT00550000074558.
HOGENOMiHOG000030913.
HOVERGENiHBG057053.
InParanoidiQ7L099.
OMAiYYSANIA.
OrthoDBiEOG722J98.
PhylomeDBiQ7L099.
TreeFamiTF323904.

Family and domain databases

InterProiIPR004012. Run.
[Graphical view]
PfamiPF02759. RUN. 1 hit.
[Graphical view]
SMARTiSM00593. RUN. 1 hit.
[Graphical view]
PROSITEiPS50826. RUN. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q7L099-1) [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
MSALTPPTDM PTPTTDKITQ AAMETIYLCK FRVSMDGEWL CLRELDDISL
60 70 80 90 100
TPDPEPTHED PNYLMANERM NLMNMAKLSI KGLIESALNL GRTLDSDYAP
110 120 130 140 150
LQQFFVVMEH CLKHGLKAKK TFLGQNKSFW GPLELVEKLV PEAAEITASV
160 170 180 190 200
KDLPGLKTPV GRGRAWLRLA LMQKKLSEYM KALINKKELL SEFYEPNALM
210 220 230 240 250
MEEEGAIIAG LLVGLNVIDA NFCMKGEDLD SQVGVIDFSM YLKDGNSSKG
260 270 280 290 300
TEGDGQITAI LDQKNYVEEL NRHLNATVNN LQAKVDALEK SNTKLTEELA
310 320 330 340 350
VANNRIITLQ EEMERVKEES SYILESNRKG PKQDRTAEGQ ALSEARKHLK
360 370 380 390 400
EETQLRLDVE KELEMQISMR QEMELAMKML EKDVCEKQDA LVSLRQQLDD
410 420 430 440 450
LRALKHELAF KLQSSDLGVK QKSELNSRLE EKTNQMAATI KQLEQSEKDL
460
VKQAKTLNSA ANKLIPKHH
Length:469
Mass (Da):52,965
Last modified:July 5, 2004 - v1
Checksum:iE8657DF068BE4113
GO
Isoform 2 (identifier: Q7L099-2) [UniParc]FASTAAdd to Basket

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.

Show »
Length:506
Mass (Da):55,875
Checksum:i2721E1192CB440AB
GO
Isoform 3 (identifier: Q7L099-3) [UniParc]FASTAAdd to Basket

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

Show »
Length:620
Mass (Da):70,610
Checksum:iD703020DE174DB6D
GO
Isoform 4 (identifier: Q7L099-4) [UniParc]FASTAAdd to Basket

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

Show »
Length:567
Mass (Da):64,721
Checksum:i51B372D53E50F9A3
GO

Sequence cautioni

The sequence BAA74894.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti151 – 1511K → R in AAF17208. 1 PublicationCurated
Sequence conflicti357 – 3571L → S in BAG63879. (PubMed:14702039)Curated
Isoform 4 (identifier: Q7L099-4)
Sequence conflicti304 – 3041L → S in BAG63879. (PubMed:14702039)Curated
Sequence conflicti431 – 4311R → G in BAG63879. (PubMed:14702039)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 6060MSALT…PTHED → MAETPPPPTAGAESCSEEPA RGGEWRPEEPRRAPAGGTDR EGEAGPPPASPAGQSEPDSP VAAPFFLLYPGDGGAGFGVR PPPQQQRSWRTPPSPGSPLP FLLLSYPSGGGGSSGSGKHH in isoform 2. 1 PublicationVSP_041250Add
BLAST
Alternative sequencei1 – 5353Missing in isoform 4. 1 PublicationVSP_041251Add
BLAST
Alternative sequencei54 – 585PEPTH → MRDDT in isoform 4. 1 PublicationVSP_041252
Alternative sequencei446 – 46924SEKDL…IPKHH → RLRQAERSRQSAELDNRLFK QDFGDKINSLQLEVEELTRQ RNQLELELKQEKERRLQNDR SIPGRGSQKSESKMDGKHKM QEENVKLKKPLEESHRLQPH PMDEQDQLLLSEKPQLCQLC QEDGSLTKNVCKNCSGTFCD ACSTNELPLPSSIKLERVCN PCHKHLMKQYSTSPS in isoform 3 and isoform 4. 1 PublicationVSP_041253Add
BLAST
Alternative sequencei446 – 4461S → R in isoform 2. 1 PublicationVSP_041254
Alternative sequencei447 – 46923Missing in isoform 2. 1 PublicationVSP_041255Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS34001.1. [Q7L099-3]
CCDS3547.1. [Q7L099-1]
CCDS47068.1. [Q7L099-2]
CCDS75138.1. [Q7L099-4]
RefSeqiNP_001032519.1. NM_001037442.3. [Q7L099-3]
NP_001124181.1. NM_001130709.1. [Q7L099-2]
NP_001278922.1. NM_001291993.1. [Q7L099-4]
NP_001278923.1. NM_001291994.1.
NP_055776.1. NM_014961.4. [Q7L099-1]
UniGeneiHs.740904.

Genome annotation databases

EnsembliENST00000226328; ENSP00000226328; ENSG00000018189. [Q7L099-1]
ENST00000381006; ENSP00000370394; ENSG00000018189. [Q7L099-3]
ENST00000417478; ENSP00000399771; ENSG00000018189. [Q7L099-2]
ENST00000502653; ENSP00000425400; ENSG00000018189. [Q7L099-4]
GeneIDi22902.
KEGGihsa:22902.
UCSCiuc003hfp.4. human. [Q7L099-2]
uc003hfq.3. human. [Q7L099-1]
uc003hfr.3. human. [Q7L099-3]
uc011cay.2. human. [Q7L099-4]

Polymorphism databases

DMDMi74738521.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS34001.1. [Q7L099-3 ]
CCDS3547.1. [Q7L099-1 ]
CCDS47068.1. [Q7L099-2 ]
CCDS75138.1. [Q7L099-4 ]
RefSeqi NP_001032519.1. NM_001037442.3. [Q7L099-3 ]
NP_001124181.1. NM_001130709.1. [Q7L099-2 ]
NP_001278922.1. NM_001291993.1. [Q7L099-4 ]
NP_001278923.1. NM_001291994.1.
NP_055776.1. NM_014961.4. [Q7L099-1 ]
UniGenei Hs.740904.

3D structure databases

ProteinModelPortali Q7L099.
SMRi Q7L099. Positions 65-231, 260-319.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116566. 5 interactions.
IntActi Q7L099. 3 interactions.
MINTi MINT-1373309.
STRINGi 9606.ENSP00000370394.

PTM databases

PhosphoSitei Q7L099.

Polymorphism databases

DMDMi 74738521.

Proteomic databases

MaxQBi Q7L099.
PaxDbi Q7L099.
PRIDEi Q7L099.

Protocols and materials databases

DNASUi 22902.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000226328 ; ENSP00000226328 ; ENSG00000018189 . [Q7L099-1 ]
ENST00000381006 ; ENSP00000370394 ; ENSG00000018189 . [Q7L099-3 ]
ENST00000417478 ; ENSP00000399771 ; ENSG00000018189 . [Q7L099-2 ]
ENST00000502653 ; ENSP00000425400 ; ENSG00000018189 . [Q7L099-4 ]
GeneIDi 22902.
KEGGi hsa:22902.
UCSCi uc003hfp.4. human. [Q7L099-2 ]
uc003hfq.3. human. [Q7L099-1 ]
uc003hfr.3. human. [Q7L099-3 ]
uc011cay.2. human. [Q7L099-4 ]

Organism-specific databases

CTDi 22902.
GeneCardsi GC04P071573.
HGNCi HGNC:30285. RUFY3.
HPAi HPA022952.
HPA022970.
MIMi 611194. gene.
neXtProti NX_Q7L099.
PharmGKBi PA142670961.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG270133.
GeneTreei ENSGT00550000074558.
HOGENOMi HOG000030913.
HOVERGENi HBG057053.
InParanoidi Q7L099.
OMAi YYSANIA.
OrthoDBi EOG722J98.
PhylomeDBi Q7L099.
TreeFami TF323904.

Miscellaneous databases

ChiTaRSi RUFY3. human.
GenomeRNAii 22902.
NextBioi 43539.
PROi Q7L099.
SOURCEi Search...

Gene expression databases

Bgeei Q7L099.
CleanExi HS_RUFY3.
ExpressionAtlasi Q7L099. baseline and differential.
Genevestigatori Q7L099.

Family and domain databases

InterProi IPR004012. Run.
[Graphical view ]
Pfami PF02759. RUN. 1 hit.
[Graphical view ]
SMARTi SM00593. RUN. 1 hit.
[Graphical view ]
PROSITEi PS50826. RUN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiRUFY3_HUMAN
AccessioniPrimary (citable) accession number: Q7L099
Secondary accession number(s): B3KM25
, B4DYW7, D9N163, O94948, Q9UI00
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: July 5, 2004
Last modified: October 29, 2014
This is version 87 of the entry and version 1 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, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3