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Entry version 166 (22 Apr 2020)
Sequence version 2 (04 Aug 2003)
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Protein

Rabankyrin-5

Gene

ANKFY1

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

Proposed effector of Rab5. Binds to phosphatidylinositol 3-phosphate (PI3P). Involved in homotypic early endosome fusion and to a lesser extent in heterotypic fusion of chlathrin-coated vesicles with early endosomes. Involved in macropinocytosis; the function is dependent on Rab5-GTP. Required for correct endosomal localization. Involved in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB. Regulates the subcellular localization of the retromer complex in a EHD1-dependent manner. Involved in endosome-to-Golgi transport and biosynthetic transport to late endosomes and lysosomes indicative for a regulation of retromer complex-mediated retrograde transport.3 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 fingeri1104 – 1164FYVE-typePROSITE-ProRule annotationAdd BLAST61

<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

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
LigandMetal-binding, Zinc

<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%5Fand%5Ftaxonomy%5Fsection">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:
Rabankyrin-51 Publication
Short name:
Rank-51 Publication
Alternative name(s):
Ankyrin repeat and FYVE domain-containing protein 1
Ankyrin repeats hooked to a zinc finger motif
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:ANKFY1
Synonyms:ANKHZN, KIAA1255
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:20763 ANKFY1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607927 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9P2R3

<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%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi421 – 423NPF → APA: Disrupts interaction with EHD1. 1 Publication3
Mutagenesisi424 – 425ED → AA: Decreases interaction with EHD1. 1 Publication2

Organism-specific databases

DisGeNET

More...
DisGeNETi
51479

MalaCards human disease database

More...
MalaCardsi
ANKFY1

Open Targets

More...
OpenTargetsi
ENSG00000185722

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
656 Genetic steroid-resistant nephrotic syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134984226

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9P2R3 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ANKFY1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
33514905

<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 <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000668902 – 1169Rabankyrin-5Add BLAST1168

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 residuei2N-acetylalanine1 Publication1
Modified residuei270PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9P2R3

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9P2R3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9P2R3

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9P2R3

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

More...
PaxDbi
Q9P2R3

PeptideAtlas

More...
PeptideAtlasi
Q9P2R3

PRoteomics IDEntifications database

More...
PRIDEi
Q9P2R3

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
83880 [Q9P2R3-1]
83881 [Q9P2R3-2]
83882 [Q9P2R3-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9P2R3

MetOSite database of methionine sulfoxide sites

More...
MetOSitei
Q9P2R3

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

More...
PhosphoSitePlusi
Q9P2R3

<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

High expression in whole adult brain and intermediate expression in all other tissues and specific brain regions examined, including fetal brain.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000185722 Expressed in corpus callosum and 201 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9P2R3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9P2R3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000185722 Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with RAB5A (in GTP-bound form).

Interacts with RHOD (independent of GTP-loaded status).

Interacts with EHD1.

Interacts with VPS26A; the interaction is indepenedent of EHD1 and is indicative for an association with the cargo recognition subcomplex of the retromer complex.

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Show more details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
119564, 43 interactors

Database of interacting proteins

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DIPi
DIP-46068N

Protein interaction database and analysis system

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IntActi
Q9P2R3, 31 interactors

Molecular INTeraction database

More...
MINTi
Q9P2R3

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000459943

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9P2R3 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

3D structure databases

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

More...
SMRi
Q9P2R3

Database of comparative protein structure models

More...
ModBasei
Search...

<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%5Fand%5Fdomains%5Fsection">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>Domaini68 – 130BTBPROSITE-ProRule annotationAdd BLAST63
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati217 – 247ANK 1Add BLAST31
Repeati255 – 284ANK 2Add BLAST30
Repeati288 – 317ANK 3Add BLAST30
Repeati322 – 362ANK 4Add BLAST41
Repeati366 – 396ANK 5Add BLAST31
Repeati490 – 519ANK 6Add BLAST30
Repeati542 – 572ANK 7Add BLAST31
Repeati588 – 617ANK 8Add BLAST30
Repeati621 – 650ANK 9Add BLAST30
Repeati654 – 683ANK 10Add BLAST30
Repeati687 – 716ANK 11Add BLAST30
Repeati724 – 753ANK 12Add BLAST30
Repeati769 – 798ANK 13Add BLAST30
Repeati802 – 832ANK 14Add BLAST31
Repeati836 – 865ANK 15Add BLAST30
Repeati870 – 899ANK 16Add BLAST30
Repeati905 – 934ANK 17Add BLAST30
Repeati938 – 967ANK 18Add BLAST30
Repeati971 – 1001ANK 19Add BLAST31
Repeati1005 – 1037ANK 20Add BLAST33
Repeati1043 – 1072ANK 21Add BLAST30

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>Regioni650 – 759Interaction with RHOD and RAB5A1 PublicationAdd BLAST110

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi421 – 423NPF3

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri1104 – 1164FYVE-typePROSITE-ProRule annotationAdd BLAST61

Keywords - Domaini

ANK repeat, Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0504 Eukaryota
KOG4591 Eukaryota
COG0666 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156179

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_010618_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9P2R3

KEGG Orthology (KO)

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KOi
K20129

Identification of Orthologs from Complete Genome Data

More...
OMAi
MHVLGHY

Database of Orthologous Groups

More...
OrthoDBi
1115202at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9P2R3

TreeFam database of animal gene trees

More...
TreeFami
TF351263

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.40.20, 7 hits
3.30.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
IPR000306 Znf_FYVE
IPR017455 Znf_FYVE-rel
IPR011011 Znf_FYVE_PHD
IPR013083 Znf_RING/FYVE/PHD

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00023 Ank, 2 hits
PF12796 Ank_2, 3 hits
PF00651 BTB, 1 hit
PF01363 FYVE, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01415 ANKYRIN

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00248 ANK, 21 hits
SM00225 BTB, 1 hit
SM00064 FYVE, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48403 SSF48403, 3 hits
SSF54695 SSF54695, 1 hit
SSF57903 SSF57903, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 12 hits
PS50097 BTB, 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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9P2R3-1) [UniParc]FASTAAdd to basket

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
MAEEEVAKLE KHLMLLRQEY VKLQKKLAET EKRCALLAAQ ANKESSSESF
60 70 80 90 100
ISRLLAIVAD LYEQEQYSDL KIKVGDRHIS AHKFVLAARS DSWSLANLSS
110 120 130 140 150
TKELDLSDAN PEVTMTMLRW IYTDELEFRE DDVFLTELMK LANRFQLQLL
160 170 180 190 200
RERCEKGVMS LVNVRNCIRF YQTAEELNAS TLMNYCAEII ASHWDDLRKE
210 220 230 240 250
DFSSMSAQLL YKMIKSKTEY PLHKAIKVER EDVVFLYLIE MDSQLPGKLN
260 270 280 290 300
EADHNGDLAL DLALSRRLES IATTLVSHKA DVDMVDKSGW SLLHKGIQRG
310 320 330 340 350
DLFAATFLIK NGAFVNAATL GAQETPLHLV ALYSSKKHSA DVMSEMAQIA
360 370 380 390 400
EALLQAGANP NMQDSKGRTP LHVSIMAGNE YVFSQLLQCK QLDLELKDHE
410 420 430 440 450
GSTALWLAVQ HITVSSDQSV NPFEDVPVVN GTSFDENSFA ARLIQRGSHT
460 470 480 490 500
DAPDTATGNC LLQRAAGAGN EAAALFLATN GAHVNHRNKW GETPLHTACR
510 520 530 540 550
HGLANLTAEL LQQGANPNLQ TEEALPLPKE AASLTSLADS VHLQTPLHMA
560 570 580 590 600
IAYNHPDVVS VILEQKANAL HATNNLQIIP DFSLKDSRDQ TVLGLALWTG
610 620 630 640 650
MHTIAAQLLG SGAAINDTMS DGQTLLHMAI QRQDSKSALF LLEHQADINV
660 670 680 690 700
RTQDGETALQ LAIRNQLPLV VDAICTRGAD MSVPDEKGNP PLWLALANNL
710 720 730 740 750
EDIASTLVRH GCDATCWGPG PGGCLQTLLH RAIDENNEPT ACFLIRSGCD
760 770 780 790 800
VNSPRQPGAN GEGEEEARDG QTPLHLAASW GLEETVQCLL EFGANVNAQD
810 820 830 840 850
AEGRTPIHVA ISSQHGVIIQ LLVSHPDIHL NVRDRQGLTP FACAMTFKNN
860 870 880 890 900
KSAEAILKRE SGAAEQVDNK GRNFLHVAVQ NSDIESVLFL ISVHANVNSR
910 920 930 940 950
VQDASKLTPL HLAVQAGSEI IVRNLLLAGA KVNELTKHRQ TALHLAAQQD
960 970 980 990 1000
LPTICSVLLE NGVDFAAVDE NGNNALHLAV MHGRLNNIRV LLTECTVDAE
1010 1020 1030 1040 1050
AFNLRGQSPL HILGQYGKEN AAAIFDLFLE CMPGYPLDKP DADGSTVLLL
1060 1070 1080 1090 1100
AYMKGNANLC RAIVRSGARL GVNNNQGVNI FNYQVATKQL LFRLLDMLSK
1110 1120 1130 1140 1150
EPPWCDGSYC YECTARFGVT TRKHHCRHCG RLLCHKCSTK EIPIIKFDLN
1160
KPVRVCNICF DVLTLGGVS
Length:1,169
Mass (Da):128,399
Last modified:August 4, 2003 - 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:i589297CA4ACDDB56
GO
Isoform 2 (identifier: Q9P2R3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     650-650: V → VS

Show »
Length:1,170
Mass (Da):128,486
Checksum:i7972BC32D1D37137
GO
Isoform 4 (identifier: Q9P2R3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-4: MAEE → MPTPRDCGRLRSRAGRSRAGAACSRGAPRAAREALDCRRCRDAGGK

Show »
Length:1,211
Mass (Da):132,821
Checksum:i810E7D2D0F90352E
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L3P8I3L3P8_HUMAN
Rabankyrin-5
ANKFY1
69Annotation 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>
I3L1Z9I3L1Z9_HUMAN
Rabankyrin-5
ANKFY1
60Annotation 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>
K7EPT2K7EPT2_HUMAN
Rabankyrin-5
ANKFY1
80Annotation 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 AAH52308 differs from that shown. Intron retention.Curated
The sequence BAA86569 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.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 conflicti48E → K in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti115M → V in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti207A → P in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti235F → S in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti270S → N in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti283 – 291DMVDKSGWS → AWWPRVLE in BAA90300 (PubMed:10940552).Curated9
Sequence conflicti299 – 300RG → E in BAA90300 (PubMed:10940552).Curated2
Sequence conflicti322A → C in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti336 – 337KK → RN in BAA90300 (PubMed:10940552).Curated2
Sequence conflicti379N → D in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti385Q → H in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti645Q → R in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti652 – 654TQD → PQA in BAA90300 (PubMed:10940552).Curated3
Sequence conflicti687K → E in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti713D → G in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti784Missing in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti795N → D in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti798A → P in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti807I → C in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti827 – 829DIH → ISS in BAA90300 (PubMed:10940552).Curated3
Sequence conflicti835R → K in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti849N → D in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti860E → G in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti874F → S in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti889F → S in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti901V → A in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti905S → P in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti913A → V in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti916A → E in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti933N → T in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti940Q → K in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti949Q → E in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti962G → A in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti1120T → A in BAA90300 (PubMed:10940552).Curated1
Sequence conflicti1157N → T in BAA90300 (PubMed:10940552).Curated1

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_0414471 – 4MAEE → MPTPRDCGRLRSRAGRSRAG AACSRGAPRAAREALDCRRC RDAGGK in isoform 4. 1 Publication4
Alternative sequenceiVSP_035607650V → VS in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

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
AB037360 mRNA Translation: BAA90300.1
AB033081 mRNA Translation: BAA86569.2 Different initiation.
AK292930 mRNA Translation: BAF85619.1
AC087292 Genomic DNA No translation available.
AC087742 Genomic DNA No translation available.
CH471108 Genomic DNA Translation: EAW90448.1
BC052308 mRNA Translation: AAH52308.1 Sequence problems.

The Consensus CDS (CCDS) project

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CCDSi
CCDS42236.1 [Q9P2R3-2]
CCDS58502.1 [Q9P2R3-4]
CCDS82038.1 [Q9P2R3-1]

NCBI Reference Sequences

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RefSeqi
NP_001244928.1, NM_001257999.2 [Q9P2R3-4]
NP_001316992.1, NM_001330063.1 [Q9P2R3-1]
NP_057460.3, NM_016376.4 [Q9P2R3-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000341657; ENSP00000343362; ENSG00000185722 [Q9P2R3-1]
ENST00000570535; ENSP00000459943; ENSG00000185722 [Q9P2R3-4]
ENST00000574367; ENSP00000459775; ENSG00000185722 [Q9P2R3-2]
ENST00000648043; ENSP00000497187; ENSG00000185722 [Q9P2R3-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
51479

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:51479

UCSC genome browser

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UCSCi
uc002fxn.4 human [Q9P2R3-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AB037360 mRNA Translation: BAA90300.1
AB033081 mRNA Translation: BAA86569.2 Different initiation.
AK292930 mRNA Translation: BAF85619.1
AC087292 Genomic DNA No translation available.
AC087742 Genomic DNA No translation available.
CH471108 Genomic DNA Translation: EAW90448.1
BC052308 mRNA Translation: AAH52308.1 Sequence problems.
CCDSiCCDS42236.1 [Q9P2R3-2]
CCDS58502.1 [Q9P2R3-4]
CCDS82038.1 [Q9P2R3-1]
RefSeqiNP_001244928.1, NM_001257999.2 [Q9P2R3-4]
NP_001316992.1, NM_001330063.1 [Q9P2R3-1]
NP_057460.3, NM_016376.4 [Q9P2R3-2]

3D structure databases

SMRiQ9P2R3
ModBaseiSearch...

Protein-protein interaction databases

BioGridi119564, 43 interactors
DIPiDIP-46068N
IntActiQ9P2R3, 31 interactors
MINTiQ9P2R3
STRINGi9606.ENSP00000459943

PTM databases

iPTMnetiQ9P2R3
MetOSiteiQ9P2R3
PhosphoSitePlusiQ9P2R3

Polymorphism and mutation databases

BioMutaiANKFY1
DMDMi33514905

Proteomic databases

EPDiQ9P2R3
jPOSTiQ9P2R3
MassIVEiQ9P2R3
MaxQBiQ9P2R3
PaxDbiQ9P2R3
PeptideAtlasiQ9P2R3
PRIDEiQ9P2R3
ProteomicsDBi83880 [Q9P2R3-1]
83881 [Q9P2R3-2]
83882 [Q9P2R3-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
5541 86 antibodies

The DNASU plasmid repository

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DNASUi
51479

Genome annotation databases

EnsembliENST00000341657; ENSP00000343362; ENSG00000185722 [Q9P2R3-1]
ENST00000570535; ENSP00000459943; ENSG00000185722 [Q9P2R3-4]
ENST00000574367; ENSP00000459775; ENSG00000185722 [Q9P2R3-2]
ENST00000648043; ENSP00000497187; ENSG00000185722 [Q9P2R3-1]
GeneIDi51479
KEGGihsa:51479
UCSCiuc002fxn.4 human [Q9P2R3-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
51479
DisGeNETi51479

GeneCards: human genes, protein and diseases

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GeneCardsi
ANKFY1
HGNCiHGNC:20763 ANKFY1
HPAiENSG00000185722 Low tissue specificity
MalaCardsiANKFY1
MIMi607927 gene
neXtProtiNX_Q9P2R3
OpenTargetsiENSG00000185722
Orphaneti656 Genetic steroid-resistant nephrotic syndrome
PharmGKBiPA134984226

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
KOG4591 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00940000156179
HOGENOMiCLU_010618_0_0_1
InParanoidiQ9P2R3
KOiK20129
OMAiMHVLGHY
OrthoDBi1115202at2759
PhylomeDBiQ9P2R3
TreeFamiTF351263

Miscellaneous databases

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

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ChiTaRSi
ANKFY1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ANKFY1

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

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GenomeRNAii
51479
PharosiQ9P2R3 Tbio

Protein Ontology

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PROi
PR:Q9P2R3
RNActiQ9P2R3 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000185722 Expressed in corpus callosum and 201 other tissues
ExpressionAtlasiQ9P2R3 baseline and differential
GenevisibleiQ9P2R3 HS

Family and domain databases

Gene3Di1.25.40.20, 7 hits
3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR000210 BTB/POZ_dom
IPR011333 SKP1/BTB/POZ_sf
IPR000306 Znf_FYVE
IPR017455 Znf_FYVE-rel
IPR011011 Znf_FYVE_PHD
IPR013083 Znf_RING/FYVE/PHD
PfamiView protein in Pfam
PF00023 Ank, 2 hits
PF12796 Ank_2, 3 hits
PF00651 BTB, 1 hit
PF01363 FYVE, 1 hit
PRINTSiPR01415 ANKYRIN
SMARTiView protein in SMART
SM00248 ANK, 21 hits
SM00225 BTB, 1 hit
SM00064 FYVE, 1 hit
SUPFAMiSSF48403 SSF48403, 3 hits
SSF54695 SSF54695, 1 hit
SSF57903 SSF57903, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 12 hits
PS50097 BTB, 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
Search...

<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 nameiANFY1_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: Q9P2R3
Secondary accession number(s): A8KA65, Q5RKV4, Q9ULG5
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 4, 2003
Last sequence update: August 4, 2003
Last modified: April 22, 2020
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

Direct protein sequencing, Reference proteome

Documents

  1. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  2. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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