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Q8WXA3 (RUFY2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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:
RUN and FYVE domain-containing protein 2
Alternative name(s):
Rab4-interacting protein related
Gene names
Name:RUFY2
Synonyms:KIAA1537, RABIP4R
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length655 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Interacts with BMX. Ref.1

Subcellular location

Nucleus By similarity.

Tissue specificity

Expressed in brain, lung and testis. Ref.1

Sequence similarities

Contains 1 FYVE-type zinc finger.

Contains 1 RUN domain.

Sequence caution

The sequence CAI17232.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
Zinc-finger
   LigandMetal-binding
Zinc
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionmetal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8WXA3-1)

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: Q8WXA3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: MGGDCLGLGGSRGRHGNAPPPLFRPVPARVLRHSGRGLEVPRRPGARTGP → M
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8WXA3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: MGGDCLGLGG...PRRPGARTGP → MTFQVWGWRR...RRGMLTRRSL
Isoform 4 (identifier: Q8WXA3-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: MGGDCLGLGGSRGRHGNAPPPLFRPVPARVLRHSGRGLEVPRRPGARTGP → M
     148-182: KTPLGRARAWLRLALMQKKMADYLRCLIIQRDLLS → N
     451-500: RLQQAEKAQM...LVQLETDLKI → SDNDLLTQTR...QYKLVKDISF
     501-655: Missing.
Isoform 5 (identifier: Q8WXA3-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-108: MGGDCLGLGG...MEHCLKHGLK → M
     451-486: RLQQAEKAQMEAEDEDEKYLQECLSKSDSLQKQISQ → SDNDLLTQTRTIAMSLVKCASSDTQDQYKLVKDISF
     487-655: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 655655RUN and FYVE domain-containing protein 2
PRO_0000245830

Regions

Domain86 – 218133RUN
Zinc finger589 – 64759FYVE-type
Coiled coil259 – 583325 Potential

Natural variations

Alternative sequence1 – 108108MGGDC…KHGLK → M in isoform 5.
VSP_054556
Alternative sequence1 – 5050MGGDC…ARTGP → M in isoform 2 and isoform 4.
VSP_019788
Alternative sequence1 – 5050MGGDC…ARTGP → MTFQVWGWRREDASQVLAWV PDAEGGRRGMLTRRSL in isoform 3.
VSP_040463
Alternative sequence148 – 18235KTPLG…RDLLS → N in isoform 4.
VSP_040464
Alternative sequence451 – 50050RLQQA…TDLKI → SDNDLLTQTRTIAMSLVKCA SSDTQDQYKLVKDISF in isoform 4.
VSP_040465
Alternative sequence451 – 48636RLQQA…KQISQ → SDNDLLTQTRTIAMSLVKCA SSDTQDQYKLVKDISF in isoform 5.
VSP_054557
Alternative sequence487 – 655169Missing in isoform 5.
VSP_054558
Alternative sequence501 – 655155Missing in isoform 4.
VSP_040466
Natural variant6221C → S.
Corresponds to variant rs11816774 [ dbSNP | Ensembl ].
VAR_060318

Sequences

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

Last modified July 11, 2006. Version 2.
Checksum: 5A00F18CE81278BE

FASTA65575,055
        10         20         30         40         50         60 
MGGDCLGLGG SRGRHGNAPP PLFRPVPARV LRHSGRGLEV PRRPGARTGP ATKDPTAVER 

        70         80         90        100        110        120 
ANLLNMAKLS IKGLIESALS FGRTLDSDYP PLQQFFVVME HCLKHGLKVR KSFLSYNKTI 

       130        140        150        160        170        180 
WGPLELVEKL YPEAEEIGAS VRDLPGLKTP LGRARAWLRL ALMQKKMADY LRCLIIQRDL 

       190        200        210        220        230        240 
LSEFYEYHAL MMEEEGAVIV GLLVGLNVID ANLCVKGEDL DSQVGVIDFS MYLKNEEDIG 

       250        260        270        280        290        300 
NKERNVQIAA ILDQKNYVEE LNRQLNSTVS SLHSRVDSLE KSNTKLIEEL AIAKNNIIKL 

       310        320        330        340        350        360 
QEENHQLRSE NKLILMKTQQ HLEVTKVDVE TELQTYKHSR QGLDEMYNEA RRQLRDESQL 

       370        380        390        400        410        420 
RQDVENELAV QVSMKHEIEL AMKLLEKDIH EKQDTLIGLR QQLEEVKAIN IEMYQKLQGS 

       430        440        450        460        470        480 
EDGLKEKNEI IARLEEKTNK ITAAMRQLEQ RLQQAEKAQM EAEDEDEKYL QECLSKSDSL 

       490        500        510        520        530        540 
QKQISQKEKQ LVQLETDLKI EKEWRQTLQE DLQKEKDALS HLRNETQQII SLKKEFLNLQ 

       550        560        570        580        590        600 
DENQQLKKIY HEQEQALQEL GNKLSESKLK IEDIKEANKA LQGLVWLKDK EATHCKLCEK 

       610        620        630        640        650 
EFSLSKRKHH CRNCGEIFCN ACSDNELPLP SSPKPVRVCD SCHALLIQRC SSNLP 

« Hide

Isoform 2 [UniParc].

Checksum: BD1100777070BE4A
Show »

FASTA60670,010
Isoform 3 [UniParc].

Checksum: 9CF9E30FD8E1FC42
Show »

FASTA64174,081
Isoform 4 [UniParc].

Checksum: 76975482950240A0
Show »

FASTA40346,136
Isoform 5 [UniParc].

Checksum: 852A5A56D2257217
Show »

FASTA37943,720

References

« Hide 'large scale' references
[1]"Interaction between tyrosine kinase Etk and a RUN-domain and FYVE-domain containing protein RUFY1. A possible role of Etk in regulation of vesicle trafficking."
Yang J., Kim O., Wu J., Qiu Y.
J. Biol. Chem. 277:30219-30226(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), INTERACTION WITH BMX, TISSUE SPECIFICITY.
[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 3 AND 5).
Tissue: Amygdala and Brain.
[3]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"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 4).
[6]"Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:143-150(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 37-655 (ISOFORM 1).
Tissue: Brain.
[7]"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: SEQUENCE REVISION.
[8]"Rabip4R, a Run- and FYVE-domain containing protein related to Rabip4."
Hong W.
Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 66-655 (ISOFORM 1).
[9]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF461266 mRNA. Translation: AAL67520.1.
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.
AB040970 mRNA. Translation: BAA96061.1.
AF411980 mRNA. Translation: AAL04164.1.
CCDSCCDS41534.1. [Q8WXA3-3]
CCDS44414.1. [Q8WXA3-4]
RefSeqNP_001035882.1. NM_001042417.1. [Q8WXA3-4]
NP_001265154.1. NM_001278225.1. [Q8WXA3-5]
NP_060457.4. NM_017987.4. [Q8WXA3-3]
XP_005270012.1. XM_005269955.2.
XP_006717974.1. XM_006717911.1. [Q8WXA3-2]
UniGeneHs.653144.

3D structure databases

ProteinModelPortalQ8WXA3.
SMRQ8WXA3. Positions 57-222, 450-648.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120809. 5 interactions.
IntActQ8WXA3. 4 interactions.
MINTMINT-8247453.
STRING9606.ENSP00000373420.

PTM databases

PhosphoSiteQ8WXA3.

Polymorphism databases

DMDM110287949.

Proteomic databases

MaxQBQ8WXA3.
PaxDbQ8WXA3.
PRIDEQ8WXA3.

Protocols and materials databases

DNASU55680.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000388768; ENSP00000373420; ENSG00000204130. [Q8WXA3-3]
ENST00000399200; ENSP00000382151; ENSG00000204130. [Q8WXA3-4]
ENST00000454950; ENSP00000404986; ENSG00000204130.
ENST00000602465; ENSP00000473462; ENSG00000204130. [Q8WXA3-2]
GeneID55680.
KEGGhsa:55680.
UCSCuc001job.3. human. [Q8WXA3-3]
uc001joc.3. human. [Q8WXA3-4]

Organism-specific databases

CTD55680.
GeneCardsGC10M070100.
HGNCHGNC:19761. RUFY2.
HPAHPA039792.
MIM610328. gene.
neXtProtNX_Q8WXA3.
PharmGKBPA134935922.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG270133.
HOGENOMHOG000030913.
HOVERGENHBG057053.
InParanoidQ8WXA3.
OMALQECQSK.
PhylomeDBQ8WXA3.
TreeFamTF323904.

Gene expression databases

ArrayExpressQ8WXA3.
BgeeQ8WXA3.
CleanExHS_RUFY2.
GenevestigatorQ8WXA3.

Family and domain databases

Gene3D3.30.40.10. 1 hit.
InterProIPR004012. Run.
IPR000306. Znf_FYVE.
IPR017455. Znf_FYVE-rel.
IPR011011. Znf_FYVE_PHD.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamPF01363. FYVE. 1 hit.
PF02759. RUN. 1 hit.
[Graphical view]
SMARTSM00064. FYVE. 1 hit.
SM00593. RUN. 1 hit.
[Graphical view]
SUPFAMSSF57903. SSF57903. 1 hit.
PROSITEPS50826. RUN. 1 hit.
PS50178. ZF_FYVE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSRUFY2. human.
GenomeRNAi55680.
NextBio35471559.
PROQ8WXA3.
SOURCESearch...

Entry information

Entry nameRUFY2_HUMAN
AccessionPrimary (citable) accession number: Q8WXA3
Secondary accession number(s): B3KXB2 expand/collapse secondary AC list , B4DFR0, Q5TC48, Q8IW33, Q96P51, Q9P1Z1
Entry history
Integrated into UniProtKB/Swiss-Prot: July 11, 2006
Last sequence update: July 11, 2006
Last modified: July 9, 2014
This is version 90 of the entry and version 2 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM