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Protein

RUN and FYVE domain-containing protein 2

Gene

RUFY2

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

Functioni

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri540 – 598FYVE-typePROSITE-ProRule annotationAdd BLAST59

GO - Molecular functioni

  • metal ion binding Source: UniProtKB-KW
  • SH3 domain binding Source: UniProtKB

GO - Biological processi

  • regulation of endocytosis Source: UniProtKB

Keywordsi

LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
RUN and FYVE domain-containing protein 2
Alternative name(s):
Rab4-interacting protein related
Gene namesi
Name:RUFY2
Synonyms:KIAA1537, RABIP4R
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000204130.12.
HGNCiHGNC:19761. RUFY2.
MIMi610328. gene.
neXtProtiNX_Q8WXA3.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000204130.
PharmGKBiPA134935922.

Polymorphism and mutation databases

BioMutaiRUFY2.
DMDMi110287949.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002458301 – 606RUN and FYVE domain-containing protein 2Add BLAST606

Proteomic databases

EPDiQ8WXA3.
MaxQBiQ8WXA3.
PaxDbiQ8WXA3.
PeptideAtlasiQ8WXA3.
PRIDEiQ8WXA3.

PTM databases

iPTMnetiQ8WXA3.
PhosphoSitePlusiQ8WXA3.

Expressioni

Tissue specificityi

Expressed in brain, lung and testis.1 Publication

Gene expression databases

BgeeiENSG00000204130.
CleanExiHS_RUFY2.
ExpressionAtlasiQ8WXA3. baseline and differential.
GenevisibleiQ8WXA3. HS.

Organism-specific databases

HPAiHPA039792.

Interactioni

Subunit structurei

Interacts with BMX.1 Publication

GO - Molecular functioni

  • SH3 domain binding Source: UniProtKB

Protein-protein interaction databases

BioGridi120809. 13 interactors.
IntActiQ8WXA3. 6 interactors.
MINTiQ8WXA3.
STRINGi9606.ENSP00000373420.

Structurei

3D structure databases

ProteinModelPortaliQ8WXA3.
SMRiQ8WXA3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini37 – 169RUNPROSITE-ProRule annotationAdd BLAST133

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili210 – 534Sequence analysisAdd BLAST325

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri540 – 598FYVE-typePROSITE-ProRule annotationAdd BLAST59

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGiKOG4381. Eukaryota.
ENOG410XRAX. LUCA.
GeneTreeiENSGT00550000074558.
HOGENOMiHOG000030913.
HOVERGENiHBG057053.
InParanoidiQ8WXA3.
OMAiLQECQSK.
OrthoDBiEOG091G042J.
PhylomeDBiQ8WXA3.
TreeFamiTF323904.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiView protein in InterPro
IPR004012. Run_dom.
IPR037213. Run_dom_sf.
IPR000306. Znf_FYVE.
IPR017455. Znf_FYVE-rel.
IPR011011. Znf_FYVE_PHD.
IPR013083. Znf_RING/FYVE/PHD.
PfamiView protein in Pfam
PF01363. FYVE. 1 hit.
PF02759. RUN. 1 hit.
SMARTiView protein in SMART
SM00064. FYVE. 1 hit.
SM00593. RUN. 1 hit.
SUPFAMiSSF140741. SSF140741. 1 hit.
SSF57903. SSF57903. 1 hit.
PROSITEiView protein in PROSITE
PS50826. RUN. 1 hit.
PS50178. ZF_FYVE. 1 hit.

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8WXA3-2) [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
MATKDPTAVE RANLLNMAKL SIKGLIESAL SFGRTLDSDY PPLQQFFVVM
60 70 80 90 100
EHCLKHGLKV RKSFLSYNKT IWGPLELVEK LYPEAEEIGA SVRDLPGLKT
110 120 130 140 150
PLGRARAWLR LALMQKKMAD YLRCLIIQRD LLSEFYEYHA LMMEEEGAVI
160 170 180 190 200
VGLLVGLNVI DANLCVKGED LDSQVGVIDF SMYLKNEEDI GNKERNVQIA
210 220 230 240 250
AILDQKNYVE ELNRQLNSTV SSLHSRVDSL EKSNTKLIEE LAIAKNNIIK
260 270 280 290 300
LQEENHQLRS ENKLILMKTQ QHLEVTKVDV ETELQTYKHS RQGLDEMYNE
310 320 330 340 350
ARRQLRDESQ LRQDVENELA VQVSMKHEIE LAMKLLEKDI HEKQDTLIGL
360 370 380 390 400
RQQLEEVKAI NIEMYQKLQG SEDGLKEKNE IIARLEEKTN KITAAMRQLE
410 420 430 440 450
QRLQQAEKAQ MEAEDEDEKY LQECLSKSDS LQKQISQKEK QLVQLETDLK
460 470 480 490 500
IEKEWRQTLQ EDLQKEKDAL SHLRNETQQI ISLKKEFLNL QDENQQLKKI
510 520 530 540 550
YHEQEQALQE LGNKLSESKL KIEDIKEANK ALQGLVWLKD KEATHCKLCE
560 570 580 590 600
KEFSLSKRKH HCRNCGEIFC NACSDNELPL PSSPKPVRVC DSCHALLIQR

CSSNLP
Length:606
Mass (Da):70,010
Last modified:March 28, 2018 - v3
Checksum:iBD1100777070BE4A
GO
Isoform 5 (identifier: Q8WXA3-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGGDCLGLGGSRGRHGNAPPPLFRPVPARVLRHSGRGLEVPRRPGARTGP

Note: No experimental confirmation available.Curated
Show »
Length:655
Mass (Da):75,055
Checksum:i5A00F18CE81278BE
GO
Isoform 2 (identifier: Q8WXA3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MTFQVWGWRREDASQVLAWVPDAEGGRRGMLTRRSL

Show »
Length:641
Mass (Da):74,081
Checksum:i9CF9E30FD8E1FC42
GO
Isoform 3 (identifier: Q8WXA3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     99-133: KTPLGRARAWLRLALMQKKMADYLRCLIIQRDLLS → N
     402-437: RLQQAEKAQMEAEDEDEKYLQECLSKSDSLQKQISQ → SDNDLLTQTRTIAMSLVKCASSDTQDQYKLVKDISF
     438-606: Missing.

Show »
Length:403
Mass (Da):46,136
Checksum:i76975482950240A0
GO
Isoform 4 (identifier: Q8WXA3-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2-59: Missing.
     402-437: RLQQAEKAQMEAEDEDEKYLQECLSKSDSLQKQISQ → SDNDLLTQTRTIAMSLVKCASSDTQDQYKLVKDISF
     438-606: Missing.

Note: No experimental confirmation available.
Show »
Length:379
Mass (Da):43,720
Checksum:i852A5A56D2257217
GO

Sequence cautioni

The sequence CAI17232 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060318573C → S. Corresponds to variant dbSNP:rs11816774Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0595051M → MTFQVWGWRREDASQVLAWV PDAEGGRRGMLTRRSL in isoform 2. 1
Alternative sequenceiVSP_0595061M → MGGDCLGLGGSRGRHGNAPP PLFRPVPARVLRHSGRGLEV PRRPGARTGP in isoform 5. 1
Alternative sequenceiVSP_0595072 – 59Missing in isoform 4. Add BLAST58
Alternative sequenceiVSP_05950899 – 133KTPLG…RDLLS → N in isoform 3. Add BLAST35
Alternative sequenceiVSP_059509402 – 437RLQQA…KQISQ → SDNDLLTQTRTIAMSLVKCA SSDTQDQYKLVKDISF in isoform 3 and isoform 4. Add BLAST36
Alternative sequenceiVSP_059510438 – 606Missing in isoform 3 and isoform 4. Add BLAST169

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF461266 mRNA. Translation: AAL67520.1.
AB040970 mRNA. Translation: BAA96061.1.
AK127019 mRNA. Translation: BAG54424.1.
AK294211 mRNA. Translation: BAG57521.1.
AL136233 Genomic DNA. Translation: CAI17232.1. Sequence problems.
AC016395 Genomic DNA. No translation available.
CH471083 Genomic DNA. Translation: EAW54294.1.
BC041092 mRNA. Translation: AAH41092.1.
AF411980 mRNA. Translation: AAL04164.1.
CCDSiCCDS41534.1. [Q8WXA3-3]
CCDS44414.1. [Q8WXA3-4]
CCDS60544.1. [Q8WXA3-5]
CCDS81470.1. [Q8WXA3-2]
RefSeqiNP_001035882.1. NM_001042417.1. [Q8WXA3-4]
NP_001265154.1. NM_001278225.1. [Q8WXA3-5]
NP_001317032.1. NM_001330103.1. [Q8WXA3-2]
NP_060457.4. NM_017987.4. [Q8WXA3-3]
XP_005270012.1. XM_005269955.4.
XP_011538244.1. XM_011539942.2. [Q8WXA3-2]
UniGeneiHs.653144.

Genome annotation databases

EnsembliENST00000388768; ENSP00000373420; ENSG00000204130. [Q8WXA3-3]
ENST00000399200; ENSP00000382151; ENSG00000204130. [Q8WXA3-4]
ENST00000454950; ENSP00000404986; ENSG00000204130. [Q8WXA3-5]
ENST00000602465; ENSP00000473462; ENSG00000204130. [Q8WXA3-2]
GeneIDi55680.
KEGGihsa:55680.
UCSCiuc001job.4. human. [Q8WXA3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRUFY2_HUMAN
AccessioniPrimary (citable) accession number: Q8WXA3
Secondary accession number(s): B3KXB2
, B4DFR0, Q5TC48, Q8IW33, Q96P51, Q9P1Z1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: March 28, 2018
Last modified: March 28, 2018
This is version 122 of the entry and version 3 of the sequence. See 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