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Entry version 99 (31 Jul 2019)
Sequence version 3 (04 Nov 2008)
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Protein

Refilin-A

Gene

RFLNA

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

Annotation score:3 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

Involved in the regulation of the perinuclear actin network and nuclear shape through interaction with filamins. Plays an essential role in actin cytoskeleton formation in developing cartilaginous cells.By similarity

<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

  • filamin binding Source: GO_Central

GO - Biological processi

<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:
Refilin-A
Alternative name(s):
Regulator of filamin protein A
Short name:
RefilinA
<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:RFLNAImported
Synonyms:FAM101A
<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 12

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:27051 RFLNA

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
615927 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6ZTI6

<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

<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>Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

<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

Organism-specific databases

DisGeNET

More...
DisGeNETi
100533183

Open Targets

More...
OpenTargetsi
ENSG00000178882

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA143485462

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RFLNA

<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_00002743311 – 216Refilin-AAdd BLAST216

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 residuei163Asymmetric dimethylarginineBy similarity1

Keywords - PTMi

Methylation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q6ZTI6

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

More...
PaxDbi
Q6ZTI6

PeptideAtlas

More...
PeptideAtlasi
Q6ZTI6

PRoteomics IDEntifications database

More...
PRIDEi
Q6ZTI6

ProteomicsDB human proteome resource

More...
ProteomicsDBi
68275 [Q6ZTI6-1]
68276 [Q6ZTI6-2]

PTM databases

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

More...
PhosphoSitePlusi
Q6ZTI6

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000178882 Expressed in 117 organ(s), highest expression level in fundus of stomach

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6ZTI6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA058911
HPA078021

<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 FLNA and FLNB.

By similarity

<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

WithEntry#Exp.IntActNotes
FLNAP21333-23EBI-10200920,EBI-9641086

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
126843, 1 interactor

Protein interaction database and analysis system

More...
IntActi
Q6ZTI6, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000374377

<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

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the Refilin family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IVW8 Eukaryota
ENOG410ZX5R LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000016836

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000112422

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6ZTI6

Identification of Orthologs from Complete Genome Data

More...
OMAi
CTWRSYR

Database of Orthologous Groups

More...
OrthoDBi
1235968at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6ZTI6

TreeFam database of animal gene trees

More...
TreeFami
TF332387

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR028215 Refilin

The PANTHER Classification System

More...
PANTHERi
PTHR31848 PTHR31848, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15068 FAM101, 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 (2)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 2 <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
Isoform 1 (identifier: Q6ZTI6-1) [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
MVGHLHLQGM EDSLKEQGRE GLLDSPDSGL PPSPSPSPPF YSLAPGILDA
60 70 80 90 100
RAGGAGASSE PPGPSEARAP PSQLPNPPAS EMRPRMLPVF FGESIKVNPE
110 120 130 140 150
PTHEIRCNSE VKYASEKHFQ DKVFYAPVPT VTAYSETIVA APNCTWRNYR
160 170 180 190 200
SQLTLEPRPR ALRFRSTTII FPKHARSTFR TTLHCSLGRP SRWFTASVQL
210
QLCQDPAPSL LGPATL
Length:216
Mass (Da):23,610
Last modified:November 4, 2008 - v3
<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:i6679E5A4CB3485E8
GO
Isoform 2 (identifier: Q6ZTI6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-81: Missing.

Note: No experimental confirmation available.
Show »
Length:135
Mass (Da):15,464
Checksum:i6A9F4247F5D551B1
GO

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 conflicti98N → S in BAC86601 (PubMed:14702039).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_0227131 – 81Missing in isoform 2. 1 PublicationAdd BLAST81

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AC073916 Genomic DNA No translation available.
AK126577 mRNA Translation: BAC86601.1
BC141805 mRNA Translation: AAI41806.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS9258.1 [Q6ZTI6-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001191228.1, NM_001204299.2 [Q6ZTI6-2]
NP_001334831.1, NM_001347902.1 [Q6ZTI6-2]
NP_859060.3, NM_181709.4 [Q6ZTI6-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000324038; ENSP00000315626; ENSG00000178882 [Q6ZTI6-2]
ENST00000338359; ENSP00000345898; ENSG00000178882 [Q6ZTI6-2]
ENST00000389727; ENSP00000374377; ENSG00000178882 [Q6ZTI6-2]
ENST00000546355; ENSP00000444080; ENSG00000178882 [Q6ZTI6-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
100533183
144347

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:100533183
hsa:144347

UCSC genome browser

More...
UCSCi
uc001ugd.3 human [Q6ZTI6-1]

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
AC073916 Genomic DNA No translation available.
AK126577 mRNA Translation: BAC86601.1
BC141805 mRNA Translation: AAI41806.1
CCDSiCCDS9258.1 [Q6ZTI6-2]
RefSeqiNP_001191228.1, NM_001204299.2 [Q6ZTI6-2]
NP_001334831.1, NM_001347902.1 [Q6ZTI6-2]
NP_859060.3, NM_181709.4 [Q6ZTI6-2]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi126843, 1 interactor
IntActiQ6ZTI6, 1 interactor
STRINGi9606.ENSP00000374377

PTM databases

PhosphoSitePlusiQ6ZTI6

Polymorphism and mutation databases

BioMutaiRFLNA

Proteomic databases

jPOSTiQ6ZTI6
PaxDbiQ6ZTI6
PeptideAtlasiQ6ZTI6
PRIDEiQ6ZTI6
ProteomicsDBi68275 [Q6ZTI6-1]
68276 [Q6ZTI6-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000324038; ENSP00000315626; ENSG00000178882 [Q6ZTI6-2]
ENST00000338359; ENSP00000345898; ENSG00000178882 [Q6ZTI6-2]
ENST00000389727; ENSP00000374377; ENSG00000178882 [Q6ZTI6-2]
ENST00000546355; ENSP00000444080; ENSG00000178882 [Q6ZTI6-1]
GeneIDi100533183
144347
KEGGihsa:100533183
hsa:144347
UCSCiuc001ugd.3 human [Q6ZTI6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
100533183
144347
DisGeNETi100533183

GeneCards: human genes, protein and diseases

More...
GeneCardsi
RFLNA
HGNCiHGNC:27051 RFLNA
HPAiHPA058911
HPA078021
MIMi615927 gene
neXtProtiNX_Q6ZTI6
OpenTargetsiENSG00000178882
PharmGKBiPA143485462

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IVW8 Eukaryota
ENOG410ZX5R LUCA
GeneTreeiENSGT00390000016836
HOGENOMiHOG000112422
InParanoidiQ6ZTI6
OMAiCTWRSYR
OrthoDBi1235968at2759
PhylomeDBiQ6ZTI6
TreeFamiTF332387

Miscellaneous databases

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

More...
ChiTaRSi
RFLNA human

Protein Ontology

More...
PROi
PR:Q6ZTI6

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000178882 Expressed in 117 organ(s), highest expression level in fundus of stomach
GenevisibleiQ6ZTI6 HS

Family and domain databases

InterProiView protein in InterPro
IPR028215 Refilin
PANTHERiPTHR31848 PTHR31848, 1 hit
PfamiView protein in Pfam
PF15068 FAM101, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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 nameiRFLA_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: Q6ZTI6
Secondary accession number(s): A5D8T5
<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: February 6, 2007
Last sequence update: November 4, 2008
Last modified: July 31, 2019
This is version 99 of the entry and version 3 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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