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Protein

RUN and FYVE domain-containing protein 1

Gene

RUFY1

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

Functioni

Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in early endosomal trafficking.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri642 – 700FYVE-typePROSITE-ProRule annotationAdd BLAST59

GO - Molecular functioni

  • lipid binding Source: UniProtKB-KW
  • metal ion binding Source: UniProtKB-KW
  • protein transporter activity Source: Ensembl
  • SH2 domain binding Source: UniProtKB
  • SH3 domain binding Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processEndocytosis, Protein transport, Transport
LigandLipid-binding, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-1660499 Synthesis of PIPs at the plasma membrane

Names & Taxonomyi

Protein namesi
Recommended name:
RUN and FYVE domain-containing protein 1
Alternative name(s):
FYVE-finger protein EIP1
La-binding protein 1
Rab4-interacting protein
Zinc finger FYVE domain-containing protein 12
Gene namesi
Name:RUFY1
Synonyms:RABIP4, ZFYVE12
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000176783.14
HGNCiHGNC:19760 RUFY1
MIMi610327 gene
neXtProtiNX_Q96T51

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

Cytoplasm, Endosome, Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi389Y → F: Abolishes phosphorylation and endosomal targeting; when associated with F-400. 1 Publication1
Mutagenesisi400Y → F: Abolishes phosphorylation and endosomal targeting; when associated with F-389. 1 Publication1

Organism-specific databases

OpenTargetsiENSG00000176783
PharmGKBiPA134944787

Polymorphism and mutation databases

BioMutaiRUFY1
DMDMi110282993

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000975301 – 708RUN and FYVE domain-containing protein 1Add BLAST708

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei389Phosphotyrosine1 Publication1
Modified residuei400Phosphotyrosine1 Publication1
Modified residuei620PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylation on Tyr-389 and/or Tyr-400 is required for interaction with BMX and endosomal targeting.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96T51
MaxQBiQ96T51
PaxDbiQ96T51
PeptideAtlasiQ96T51
PRIDEiQ96T51
ProteomicsDBi78184
78185 [Q96T51-2]
78186 [Q96T51-3]

PTM databases

iPTMnetiQ96T51
PhosphoSitePlusiQ96T51

Expressioni

Tissue specificityi

Broadly expressed, with highest levels in lung, testis, kidney and brain.1 Publication

Gene expression databases

BgeeiENSG00000176783 Expressed in 220 organ(s), highest expression level in lower esophagus muscularis layer
CleanExiHS_RUFY1
ExpressionAtlasiQ96T51 baseline and differential
GenevisibleiQ96T51 HS

Organism-specific databases

HPAiHPA038804
HPA057614

Interactioni

Subunit structurei

Interacts with BMX. May interact with SSB. Interacts with RAB4 and RAB5 that have been activated by GTP-binding.2 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi123193, 62 interactors
IntActiQ96T51, 17 interactors
MINTiQ96T51
STRINGi9606.ENSP00000325594

Structurei

Secondary structure

1708
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ96T51
SMRiQ96T51
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96T51

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini139 – 271RUNPROSITE-ProRule annotationAdd BLAST133

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni615 – 625Interaction with RAB4By similarityAdd BLAST11

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili321 – 374Sequence analysisAdd BLAST54
Coiled coili405 – 617Sequence analysisAdd BLAST213

Domaini

The FYVE-type zinc finger domain mediates interactions with phosphatidylinositol 3-phosphate in membranes of early endosomes and penetrates bilayers. The FYVE domain insertion into PtdIns3P-enriched membranes is substantially increased in acidic conditions.1 Publication

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri642 – 700FYVE-typePROSITE-ProRule annotationAdd BLAST59

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGiKOG1729 Eukaryota
KOG4381 Eukaryota
ENOG410XRAX LUCA
GeneTreeiENSGT00550000074558
HOVERGENiHBG057053
InParanoidiQ96T51
KOiK12482
OMAiCDSCHTL
OrthoDBiEOG091G042J
PhylomeDBiQ96T51
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
IPR001841 Znf_RING
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 (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96T51-1) [UniParc]FASTAAdd to basket
Also known as: rabip4'

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
MADREGGCAA GRGRELEPEL EPGPGPGSAL EPGEEFEIVD RSQLPGPGDL
60 70 80 90 100
RSATRPRAAE GWSAPILTLA RRATGNLSAS CGSALRAAAG LGGGDSGDGT
110 120 130 140 150
ARAASKCQMM EERANLMHMM KLSIKVLLQS ALSLGRSLDA DHAPLQQFFV
160 170 180 190 200
VMEHCLKHGL KVKKSFIGQN KSFFGPLELV EKLCPEASDI ATSVRNLPEL
210 220 230 240 250
KTAVGRGRAW LYLALMQKKL ADYLKVLIDN KHLLSEFYEP EALMMEEEGM
260 270 280 290 300
VIVGLLVGLN VLDANLCLKG EDLDSQVGVI DFSLYLKDVQ DLDGGKEHER
310 320 330 340 350
ITDVLDQKNY VEELNRHLSC TVGDLQTKID GLEKTNSKLQ EELSAATDRI
360 370 380 390 400
CSLQEEQQQL REQNELIRER SEKSVEITKQ DTKVELETYK QTRQGLDEMY
410 420 430 440 450
SDVWKQLKEE KKVRLELEKE LELQIGMKTE MEIAMKLLEK DTHEKQDTLV
460 470 480 490 500
ALRQQLEEVK AINLQMFHKA QNAESSLQQK NEAITSFEGK TNQVMSSMKQ
510 520 530 540 550
MEERLQHSER ARQGAEERSH KLQQELGGRI GALQLQLSQL HEQCSSLEKE
560 570 580 590 600
LKSEKEQRQA LQRELQHEKD TSSLLRMELQ QVEGLKKELR ELQDEKAELQ
610 620 630 640 650
KICEEQEQAL QEMGLHLSQS KLKMEDIKEV NQALKGHAWL KDDEATHCRQ
660 670 680 690 700
CEKEFSISRR KHHCRNCGHI FCNTCSSNEL ALPSYPKPVR VCDSCHTLLL

QRCSSTAS
Length:708
Mass (Da):79,818
Last modified:July 11, 2006 - v2
Checksum:i6697B4BC108AD54F
GO
Isoform 2 (identifier: Q96T51-2) [UniParc]FASTAAdd to basket
Also known as: rabip4

The sequence of this isoform differs from the canonical sequence as follows:
     1-108: Missing.

Show »
Length:600
Mass (Da):69,078
Checksum:i44EEEB383C18FC47
GO
Isoform 3 (identifier: Q96T51-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     343-412: LSAATDRICS...VWKQLKEEKK → EERMKGQDKG...RRTAAVKRTK
     413-708: Missing.

Note: No experimental confirmation available.
Show »
Length:412
Mass (Da):44,489
Checksum:iDB0F4DA2BD8EEA83
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YAC8H0YAC8_HUMAN
RUN and FYVE domain-containing prot...
RUFY1
271Annotation score:
H0YA47H0YA47_HUMAN
RUN and FYVE domain-containing prot...
RUFY1
328Annotation score:
J3KPP6J3KPP6_HUMAN
RUN and FYVE domain-containing prot...
RUFY1
324Annotation score:
H0Y9Y8H0Y9Y8_HUMAN
RUN and FYVE domain-containing prot...
RUFY1
219Annotation score:

Sequence cautioni

The sequence AAK50771 differs from that shown. Reason: Frameshift at positions 47 and 88.Curated
The sequence BAB15276 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti519 – 528SHKLQQELGG → TTSCSRSWAV in AAQ14554 (PubMed:14617813).Curated10
Sequence conflicti570D → N in AAQ14554 (PubMed:14617813).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035985267C → F in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_051327298H → Q. Corresponds to variant dbSNP:rs6879322Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0197851 – 108Missing in isoform 2. 2 PublicationsAdd BLAST108
Alternative sequenceiVSP_019786343 – 412LSAAT…KEEKK → EERMKGQDKGGLSRGRELAA SCPAVSLLDTSCLLLAGGGC SALLRLSTAFSCNRPNLLTS RRTAAVKRTK in isoform 3. 1 PublicationAdd BLAST70
Alternative sequenceiVSP_019787413 – 708Missing in isoform 3. 1 PublicationAdd BLAST296

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF312367 mRNA Translation: AAQ14554.1
AK025904 mRNA Translation: BAB15276.1 Different initiation.
AK075021 mRNA No translation available.
BC032571 mRNA Translation: AAH32571.1
AF361055 mRNA Translation: AAK50771.1 Frameshift.
AB209507 mRNA Translation: BAD92744.1
CCDSiCCDS34312.1 [Q96T51-2]
CCDS4445.2 [Q96T51-1]
RefSeqiNP_001035541.1, NM_001040451.2 [Q96T51-2]
NP_001035542.1, NM_001040452.2 [Q96T51-2]
NP_079434.3, NM_025158.4 [Q96T51-1]
XP_016865384.1, XM_017009895.1
UniGeneiHs.306769

Genome annotation databases

EnsembliENST00000319449; ENSP00000325594; ENSG00000176783 [Q96T51-1]
ENST00000393438; ENSP00000377087; ENSG00000176783 [Q96T51-2]
ENST00000437570; ENSP00000390025; ENSG00000176783 [Q96T51-2]
ENST00000639102; ENSP00000491803; ENSG00000284260 [Q96T51-2]
ENST00000639436; ENSP00000491925; ENSG00000284260 [Q96T51-2]
ENST00000639909; ENSP00000492748; ENSG00000284260 [Q96T51-1]
GeneIDi80230
KEGGihsa:80230
UCSCiuc003mka.3 human [Q96T51-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF312367 mRNA Translation: AAQ14554.1
AK025904 mRNA Translation: BAB15276.1 Different initiation.
AK075021 mRNA No translation available.
BC032571 mRNA Translation: AAH32571.1
AF361055 mRNA Translation: AAK50771.1 Frameshift.
AB209507 mRNA Translation: BAD92744.1
CCDSiCCDS34312.1 [Q96T51-2]
CCDS4445.2 [Q96T51-1]
RefSeqiNP_001035541.1, NM_001040451.2 [Q96T51-2]
NP_001035542.1, NM_001040452.2 [Q96T51-2]
NP_079434.3, NM_025158.4 [Q96T51-1]
XP_016865384.1, XM_017009895.1
UniGeneiHs.306769

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YQMNMR-A627-708[»]
2YW8X-ray3.00A627-708[»]
ProteinModelPortaliQ96T51
SMRiQ96T51
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123193, 62 interactors
IntActiQ96T51, 17 interactors
MINTiQ96T51
STRINGi9606.ENSP00000325594

PTM databases

iPTMnetiQ96T51
PhosphoSitePlusiQ96T51

Polymorphism and mutation databases

BioMutaiRUFY1
DMDMi110282993

Proteomic databases

EPDiQ96T51
MaxQBiQ96T51
PaxDbiQ96T51
PeptideAtlasiQ96T51
PRIDEiQ96T51
ProteomicsDBi78184
78185 [Q96T51-2]
78186 [Q96T51-3]

Protocols and materials databases

DNASUi80230
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000319449; ENSP00000325594; ENSG00000176783 [Q96T51-1]
ENST00000393438; ENSP00000377087; ENSG00000176783 [Q96T51-2]
ENST00000437570; ENSP00000390025; ENSG00000176783 [Q96T51-2]
ENST00000639102; ENSP00000491803; ENSG00000284260 [Q96T51-2]
ENST00000639436; ENSP00000491925; ENSG00000284260 [Q96T51-2]
ENST00000639909; ENSP00000492748; ENSG00000284260 [Q96T51-1]
GeneIDi80230
KEGGihsa:80230
UCSCiuc003mka.3 human [Q96T51-1]

Organism-specific databases

CTDi80230
EuPathDBiHostDB:ENSG00000176783.14
GeneCardsiRUFY1
HGNCiHGNC:19760 RUFY1
HPAiHPA038804
HPA057614
MIMi610327 gene
neXtProtiNX_Q96T51
OpenTargetsiENSG00000176783
PharmGKBiPA134944787
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1729 Eukaryota
KOG4381 Eukaryota
ENOG410XRAX LUCA
GeneTreeiENSGT00550000074558
HOVERGENiHBG057053
InParanoidiQ96T51
KOiK12482
OMAiCDSCHTL
OrthoDBiEOG091G042J
PhylomeDBiQ96T51
TreeFamiTF323904

Enzyme and pathway databases

ReactomeiR-HSA-1660499 Synthesis of PIPs at the plasma membrane

Miscellaneous databases

ChiTaRSiRUFY1 human
EvolutionaryTraceiQ96T51
GeneWikiiRUFY1
GenomeRNAii80230
PROiPR:Q96T51
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000176783 Expressed in 220 organ(s), highest expression level in lower esophagus muscularis layer
CleanExiHS_RUFY1
ExpressionAtlasiQ96T51 baseline and differential
GenevisibleiQ96T51 HS

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
IPR001841 Znf_RING
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
ProtoNetiSearch...

Entry informationi

Entry nameiRUFY1_HUMAN
AccessioniPrimary (citable) accession number: Q96T51
Secondary accession number(s): Q59FF3, Q71S93, Q9H6I3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: July 11, 2006
Last modified: September 12, 2018
This is version 154 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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