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Entry version 166 (11 Dec 2019)
Sequence version 2 (11 Jul 2006)
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Protein

RUN and FYVE domain-containing protein 1

Gene

RUFY1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri642 – 700FYVE-typePROSITE-ProRule annotationAdd BLAST59

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • lipid binding Source: UniProtKB-KW
  • metal ion binding Source: UniProtKB-KW
  • SH2 domain binding Source: UniProtKB
  • SH3 domain binding Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1660499 Synthesis of PIPs at the plasma membrane

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RUFY1
Synonyms:RABIP4, ZFYVE12
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000176783.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:19760 RUFY1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
610327 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96T51

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
80230

Open Targets

More...
OpenTargetsi
ENSG00000176783

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134944787

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96T51 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RUFY1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
110282993

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000975301 – 708RUN and FYVE domain-containing protein 1Add BLAST708

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei389Phosphotyrosine1 Publication1
Modified residuei400Phosphotyrosine1 Publication1
Modified residuei620PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...
EPDi
Q96T51

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96T51

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q96T51

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q96T51

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q96T51

PeptideAtlas

More...
PeptideAtlasi
Q96T51

PRoteomics IDEntifications database

More...
PRIDEi
Q96T51

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
78184 [Q96T51-1]
78185 [Q96T51-2]
78186 [Q96T51-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96T51

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q96T51

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000176783 Expressed in 220 organ(s), highest expression level in lower esophagus muscularis layer

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q96T51 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96T51 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA038804

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with BMX. May interact with SSB.

Interacts with RAB4 and RAB5 that have been activated by GTP-binding.

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

GO - Molecular functioni

  • SH2 domain binding Source: UniProtKB
  • SH3 domain binding Source: UniProtKB

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
123193, 66 interactors

Protein interaction database and analysis system

More...
IntActi
Q96T51, 38 interactors

Molecular INTeraction database

More...
MINTi
Q96T51

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000325594

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q96T51 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q96T51

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q96T51

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini139 – 271RUNPROSITE-ProRule annotationAdd BLAST133

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni615 – 625Interaction with RAB4By similarityAdd BLAST11

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili321 – 374Sequence analysisAdd BLAST54
Coiled coili405 – 617Sequence analysisAdd BLAST213

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1729 Eukaryota
KOG4381 Eukaryota
ENOG410XRAX LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158334

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96T51

KEGG Orthology (KO)

More...
KOi
K12482

Identification of Orthologs from Complete Genome Data

More...
OMAi
RCEQQEQ

Database of Orthologous Groups

More...
OrthoDBi
753155at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96T51

TreeFam database of animal gene trees

More...
TreeFami
TF323904

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.30.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View 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

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01363 FYVE, 1 hit
PF02759 RUN, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00064 FYVE, 1 hit
SM00593 RUN, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF140741 SSF140741, 1 hit
SSF57903 SSF57903, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50826 RUN, 1 hit
PS50178 ZF_FYVE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

Show »
Length:412
Mass (Da):44,489
Checksum:iDB0F4DA2BD8EEA83
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YA47H0YA47_HUMAN
RUN and FYVE domain-containing prot...
RUFY1
328Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KPP6J3KPP6_HUMAN
RUN and FYVE domain-containing prot...
RUFY1
324Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y9Y8H0Y9Y8_HUMAN
RUN and FYVE domain-containing prot...
RUFY1
219Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAK50771 differs from that shown. Reason: Frameshift.Curated
The sequence BAB15276 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti519 – 528SHKLQQELGG → TTSCSRSWAV in AAQ14554 (PubMed:14617813).Curated10
Sequence conflicti570D → N in AAQ14554 (PubMed:14617813).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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

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EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS34312.1 [Q96T51-2]
CCDS4445.2 [Q96T51-1]

NCBI Reference Sequences

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RefSeqi
NP_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

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000319449; 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]

Database of genes from NCBI RefSeq genomes

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GeneIDi
80230

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:80230

UCSC genome browser

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UCSCi
uc003mka.3 human [Q96T51-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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

3D structure databases

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Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YQMNMR-A627-708[»]
2YW8X-ray3.00A627-708[»]
SMRiQ96T51
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi123193, 66 interactors
IntActiQ96T51, 38 interactors
MINTiQ96T51
STRINGi9606.ENSP00000325594

PTM databases

iPTMnetiQ96T51
PhosphoSitePlusiQ96T51

Polymorphism and mutation databases

BioMutaiRUFY1
DMDMi110282993

Proteomic databases

EPDiQ96T51
jPOSTiQ96T51
MassIVEiQ96T51
MaxQBiQ96T51
PaxDbiQ96T51
PeptideAtlasiQ96T51
PRIDEiQ96T51
ProteomicsDBi78184 [Q96T51-1]
78185 [Q96T51-2]
78186 [Q96T51-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
80230

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

Comparative Toxicogenomics Database

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CTDi
80230
DisGeNETi80230
EuPathDBiHostDB:ENSG00000176783.14

GeneCards: human genes, protein and diseases

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GeneCardsi
RUFY1
HGNCiHGNC:19760 RUFY1
HPAiHPA038804
MIMi610327 gene
neXtProtiNX_Q96T51
OpenTargetsiENSG00000176783
PharmGKBiPA134944787

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1729 Eukaryota
KOG4381 Eukaryota
ENOG410XRAX LUCA
GeneTreeiENSGT00940000158334
InParanoidiQ96T51
KOiK12482
OMAiRCEQQEQ
OrthoDBi753155at2759
PhylomeDBiQ96T51
TreeFamiTF323904

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
RUFY1 human
EvolutionaryTraceiQ96T51

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
RUFY1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
80230
PharosiQ96T51 Tbio

Protein Ontology

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PROi
PR:Q96T51
RNActiQ96T51 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000176783 Expressed in 220 organ(s), highest expression level in lower esophagus muscularis layer
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRUFY1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96T51
Secondary accession number(s): Q59FF3, Q71S93, Q9H6I3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: July 11, 2006
Last modified: December 11, 2019
This is version 166 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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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