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Protein

Protein RUFY3

Gene

RUFY3

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

Functioni

Plays a role in the generation of neuronal polarity formation and axon growth (By similarity). Implicated in the formation of a single axon by developing neurons (By similarity). May inhibit the formation of additional axons by inhibition of PI3K in minor neuronal processes (By similarity). Plays a role in the formation of F-actin-enriched protrusive structures at the cell periphery (PubMed:25766321). Plays a role in cytoskeletal organization by regulating the subcellular localization of FSCN1 and DBN1 at axonal growth cones (By similarity). Promotes gastric cancer cell migration and invasion in a PAK1-dependent manner (PubMed:25766321).By similarity1 Publication

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Neurogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
Protein RUFY3Curated
Alternative name(s):
RUN and FYVE domain-containing protein 3Imported
Rap2-interacting protein xBy similarity
Short name:
RIPxBy similarity
Single axon-regulated proteinBy similarity
Short name:
SingarBy similarity
Gene namesi
Name:RUFY3Imported
Synonyms:KIAA0871
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:30285. RUFY3.

Subcellular locationi

GO - Cellular componenti

  • axon Source: UniProtKB
  • cell junction Source: UniProtKB-KW
  • cytoplasm Source: UniProtKB
  • dendrite Source: UniProtKB
  • endomembrane system Source: UniProtKB-SubCell
  • filopodium Source: HGNC
  • growth cone Source: UniProtKB
  • invadopodium Source: UniProtKB
  • lamellipodium Source: UniProtKB
  • membrane Source: UniProtKB-KW
  • perikaryon Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell projection, Cytoplasm, Membrane

Pathology & Biotechi

Keywords - Diseasei

Oncogene

Organism-specific databases

PharmGKBiPA142670961.

Polymorphism and mutation databases

BioMutaiRUFY3.
DMDMi74738521.

PTM / Processingi

Molecule processing

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

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei5 – 51PhosphothreonineBy similarity
Modified residuei12 – 121PhosphothreonineBy similarity
Modified residuei34 – 341PhosphoserineBy similarity
Modified residuei49 – 491PhosphoserineBy similarity
Modified residuei51 – 511PhosphothreonineBy similarity

Post-translational modificationi

Phosphorylated by PAK1 (PubMed:25766321). Isoform 1 is partially phosphorylated (By similarity).By similarity1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ7L099.
MaxQBiQ7L099.
PaxDbiQ7L099.
PeptideAtlasiQ7L099.
PRIDEiQ7L099.

PTM databases

iPTMnetiQ7L099.
PhosphoSiteiQ7L099.

Expressioni

Tissue specificityi

Overexpressed in gastric cancer cells and tissues (at protein level) (PubMed:25766321).1 Publication

Gene expression databases

BgeeiENSG00000018189.
CleanExiHS_RUFY3.
ExpressionAtlasiQ7L099. baseline and differential.
GenevisibleiQ7L099. HS.

Organism-specific databases

HPAiHPA022952.
HPA022970.

Interactioni

Subunit structurei

Interacts with PAK1 (PubMed:25766321). Interacts (via C-terminus) with Ras-related Rab-5 proteins (PubMed:20376209). Interacts (via C-terminus) with Ras-related Rap-2 proteins (PubMed:20376209). Interacts with PIK3CA and PIK3R1 (By similarity). Interacts (via N-terminus) with FSCN1; this interaction induces neuron axon development (By similarity). Interacts with DBN1 (By similarity).By similarity2 Publications

Protein-protein interaction databases

BioGridi116566. 13 interactions.
IntActiQ7L099. 3 interactions.
MINTiMINT-1373309.
STRINGi9606.ENSP00000370394.

Structurei

3D structure databases

ProteinModelPortaliQ7L099.
SMRiQ7L099. Positions 65-231.
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

eggNOGiKOG4381. Eukaryota.
ENOG410XRAX. LUCA.
GeneTreeiENSGT00550000074558.
HOGENOMiHOG000030913.
HOVERGENiHBG057053.
InParanoidiQ7L099.
OMAiIKLERVC.
OrthoDBiEOG091G042J.
PhylomeDBiQ7L099.
TreeFamiTF323904.

Family and domain databases

InterProiIPR004012. Run_dom.
[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. AlignAdd to basket

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 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti151 – 1511K → R in AAF17208 (Ref. 5) Curated
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:
EMBLi
GenBanki
DDBJi
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.5. human. [Q7L099-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ7L099.
SMRiQ7L099. Positions 65-231.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116566. 13 interactions.
IntActiQ7L099. 3 interactions.
MINTiMINT-1373309.
STRINGi9606.ENSP00000370394.

PTM databases

iPTMnetiQ7L099.
PhosphoSiteiQ7L099.

Polymorphism and mutation databases

BioMutaiRUFY3.
DMDMi74738521.

Proteomic databases

EPDiQ7L099.
MaxQBiQ7L099.
PaxDbiQ7L099.
PeptideAtlasiQ7L099.
PRIDEiQ7L099.

Protocols and materials databases

DNASUi22902.
Structural Biology KnowledgebaseSearch...

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.5. human. [Q7L099-1]

Organism-specific databases

CTDi22902.
GeneCardsiRUFY3.
HGNCiHGNC:30285. RUFY3.
HPAiHPA022952.
HPA022970.
MIMi611194. gene.
neXtProtiNX_Q7L099.
PharmGKBiPA142670961.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4381. Eukaryota.
ENOG410XRAX. LUCA.
GeneTreeiENSGT00550000074558.
HOGENOMiHOG000030913.
HOVERGENiHBG057053.
InParanoidiQ7L099.
OMAiIKLERVC.
OrthoDBiEOG091G042J.
PhylomeDBiQ7L099.
TreeFamiTF323904.

Miscellaneous databases

ChiTaRSiRUFY3. human.
GenomeRNAii22902.
PROiQ7L099.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000018189.
CleanExiHS_RUFY3.
ExpressionAtlasiQ7L099. baseline and differential.
GenevisibleiQ7L099. HS.

Family and domain databases

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

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: September 7, 2016
This is version 101 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

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.