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Entry version 127 (12 Aug 2020)
Sequence version 4 (12 Sep 2018)
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Protein

Dynein assembly factor 3, axonemal

Gene

DNAAF3

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

Annotation score:4 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

Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia.1 Publication

<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 - 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 processCilium biogenesis/degradation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8N9W5

<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:
Dynein assembly factor 3, axonemal
<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:DNAAF3
Synonyms:C19orf51
<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 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000167646.13

Human Gene Nomenclature Database

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HGNCi
HGNC:30492, DNAAF3

Online Mendelian Inheritance in Man (OMIM)

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MIMi
614566, gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q8N9W5

<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

Keywords - Cellular componenti

Cytoplasm

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Ciliary dyskinesia, primary, 2 (CILD2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Related information in OMIM
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_06730061L → P in CILD2. 1 PublicationCorresponds to variant dbSNP:rs387907151EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNET

More...
DisGeNETi
352909

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
DNAAF3

MalaCards human disease database

More...
MalaCardsi
DNAAF3
MIMi606763, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000167646

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

More...
Orphaneti
244, Primary ciliary dyskinesia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA147358371

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8N9W5, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DNAAF3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
229462985

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002975801 – 541Dynein assembly factor 3, axonemalAdd BLAST541

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8N9W5

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8N9W5

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

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PaxDbi
Q8N9W5

PeptideAtlas

More...
PeptideAtlasi
Q8N9W5

PRoteomics IDEntifications database

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PRIDEi
Q8N9W5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
15295
72595 [Q8N9W5-1]
72596 [Q8N9W5-3]
72597 [Q8N9W5-5]
72598 [Q8N9W5-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N9W5

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

More...
PhosphoSitePlusi
Q8N9W5

<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

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Bgeei
ENSG00000167646, Expressed in apex of heart and 118 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8N9W5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N9W5, HS

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
131582, 2 interactors

Protein interaction database and analysis system

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IntActi
Q8N9W5, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000436975

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8N9W5, protein

<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 DNAAF3 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QT97, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000002069

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_156270_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8N9W5

KEGG Orthology (KO)

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KOi
K19752

Identification of Orthologs from Complete Genome Data

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OMAi
PEYEQCK

Database of Orthologous Groups

More...
OrthoDBi
681465at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N9W5

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR039304, DNAAF3
IPR028235, DNAAF3_C
IPR027974, DUF4470

The PANTHER Classification System

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PANTHERi
PTHR22118, PTHR22118, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14737, DUF4470, 1 hit
PF14740, DUF4471, 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 (5+)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.

This entry describes 5 <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 5 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8N9W5-1) [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
MTTPAGSGSG FGSVSWWGLS PALDLQAESP PVDPDSQADT VHSNPELDVL
60 70 80 90 100
LLGSVDGRHL LRTLSRAKFW PRRRFNFFVL ENNLEAVARH MLIFSLALEE
110 120 130 140 150
PEKMGLQERS ETFLEVWGNA LLRPPVAAFV RAQADLLAHL VPEPDRLEEQ
160 170 180 190 200
LPWLSLRALK FRERDALEAV FRFWAGGEKG PQAFPMSRLW DSRLRHYLGS
210 220 230 240 250
RYDARRGVSD WDLRMKLHDR GAQVIHPQEF RRWRDTGVAF ELRDSSAYHV
260 270 280 290 300
PNRTLASGRL LSYRGERVAA RGYWGDIATG PFVAFGIEAD DESLLRTSNG
310 320 330 340 350
QPVKTAGEIT QHNVTELLRD VAAWGRARAT GGDLEEQQHA EGSPEPGTPA
360 370 380 390 400
APTPESFTVH FLPLNSAQTL HHKSCYNGRF QLLYVACGMV HLLIPELGAC
410 420 430 440 450
VAPGGNLIVE LARYLVDVRQ EQLQGFNTRV RELAQAAGFA PQTGARPSET
460 470 480 490 500
FARFCKSQES ALGNTVPAVE PGTPPLDILA QPLEASNPAL EGLTQPLQGG
510 520 530 540
TPHCEPCQLP SESPGSLSEV LAQPQGALAP PNCESDSKTG V
Length:541
Mass (Da):59,410
Last modified:September 12, 2018 - v4
<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:i58BF0BFAFEC602BC
GO
Isoform 2 (identifier: Q8N9W5-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     77-95: FFVLENNLEAVARHMLIFS → VSWDEDESPDSRVLEGGRD
     96-541: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:95
Mass (Da):10,389
Checksum:i0F7AA25AC080E9F5
GO
Isoform 3 (identifier: Q8N9W5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MLPLLDSSKRAGTLGSGCGVPRVHSAALSREEGASRDIWRIKVWARVM
     29-29: S → RDATVDALPTTMVPQPAVILPG
     350-350: Missing.

Show »
Length:608
Mass (Da):66,569
Checksum:i1C9701FE60A96B27
GO
Isoform 4 (identifier: Q8N9W5-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MLPLLDSSKRAGTLGSGCGVPRVHSAALSREEGASRDIWRIKVWARVM

Show »
Length:588
Mass (Da):64,483
Checksum:iF92FC12DE73001CE
GO
Isoform 5 (identifier: Q8N9W5-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-76: MTTPAGSGSG...AKFWPRRRFN → MKMRAQIPESLREEGIEILKPQ

Show »
Length:487
Mass (Da):53,748
Checksum:i2AF6288DA8B6CCB3
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
H0YCU4H0YCU4_HUMAN
Dynein assembly factor 3, axonemal
DNAAF3
112Annotation 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>
H0YD30H0YD30_HUMAN
Dynein assembly factor 3, axonemal
DNAAF3
105Annotation 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>
M0R2L0M0R2L0_HUMAN
Dynein assembly factor 3, axonemal
DNAAF3
208Annotation 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>
M0R359M0R359_HUMAN
Dynein assembly factor 3, axonemal
DNAAF3
160Annotation 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 BAC04177 differs from that shown. Probable cloning artifact.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06730061L → P in CILD2. 1 PublicationCorresponds to variant dbSNP:rs387907151EnsemblClinVar.1
Natural variantiVAR_067301278A → T1 PublicationCorresponds to variant dbSNP:rs200775946EnsemblClinVar.1
Natural variantiVAR_055306292E → G. Corresponds to variant dbSNP:rs2365725EnsemblClinVar.1
Natural variantiVAR_055307331G → W. Corresponds to variant dbSNP:rs7508641Ensembl.1
Natural variantiVAR_055308365N → D. Corresponds to variant dbSNP:rs890872Ensembl.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_0557421 – 76MTTPA…RRRFN → MKMRAQIPESLREEGIEILK PQ in isoform 5. 1 PublicationAdd BLAST76
Alternative sequenceiVSP_0429761M → MLPLLDSSKRAGTLGSGCGV PRVHSAALSREEGASRDIWR IKVWARVM in isoform 3 and isoform 4. 1 Publication1
Alternative sequenceiVSP_03996629S → RDATVDALPTTMVPQPAVIL PG in isoform 3. 1 Publication1
Alternative sequenceiVSP_03996777 – 95FFVLE…MLIFS → VSWDEDESPDSRVLEGGRD in isoform 2. CuratedAdd BLAST19
Alternative sequenceiVSP_03996896 – 541Missing in isoform 2. CuratedAdd BLAST446
Alternative sequenceiVSP_039969350Missing in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK093458 mRNA Translation: BAC04172.1
AK093473 mRNA Translation: BAC04177.1 Sequence problems.
AK097388 mRNA Translation: BAC05029.1
AC010327 Genomic DNA No translation available.
BC016843 mRNA Translation: AAH16843.1
BC063449 mRNA Translation: AAH63449.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS12918.2 [Q8N9W5-6]
CCDS58679.1 [Q8N9W5-7]
CCDS58680.1 [Q8N9W5-3]
CCDS59422.1 [Q8N9W5-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001243643.1, NM_001256714.1 [Q8N9W5-3]
NP_001243644.1, NM_001256715.1 [Q8N9W5-1]
NP_001243645.1, NM_001256716.1 [Q8N9W5-7]
NP_849159.2, NM_178837.4 [Q8N9W5-6]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000391720; ENSP00000375600; ENSG00000167646 [Q8N9W5-6]
ENST00000455045; ENSP00000394343; ENSG00000167646 [Q8N9W5-7]
ENST00000524407; ENSP00000432046; ENSG00000167646 [Q8N9W5-1]
ENST00000527223; ENSP00000436975; ENSG00000167646 [Q8N9W5-3]
ENST00000528412; ENSP00000433826; ENSG00000167646 [Q8N9W5-5]
ENST00000534214; ENSP00000433247; ENSG00000167646 [Q8N9W5-5]

Database of genes from NCBI RefSeq genomes

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GeneIDi
352909

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:352909

UCSC genome browser

More...
UCSCi
uc002qji.3, human [Q8N9W5-1]

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
AK093458 mRNA Translation: BAC04172.1
AK093473 mRNA Translation: BAC04177.1 Sequence problems.
AK097388 mRNA Translation: BAC05029.1
AC010327 Genomic DNA No translation available.
BC016843 mRNA Translation: AAH16843.1
BC063449 mRNA Translation: AAH63449.1
CCDSiCCDS12918.2 [Q8N9W5-6]
CCDS58679.1 [Q8N9W5-7]
CCDS58680.1 [Q8N9W5-3]
CCDS59422.1 [Q8N9W5-1]
RefSeqiNP_001243643.1, NM_001256714.1 [Q8N9W5-3]
NP_001243644.1, NM_001256715.1 [Q8N9W5-1]
NP_001243645.1, NM_001256716.1 [Q8N9W5-7]
NP_849159.2, NM_178837.4 [Q8N9W5-6]

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

BioGRIDi131582, 2 interactors
IntActiQ8N9W5, 3 interactors
STRINGi9606.ENSP00000436975

PTM databases

iPTMnetiQ8N9W5
PhosphoSitePlusiQ8N9W5

Polymorphism and mutation databases

BioMutaiDNAAF3
DMDMi229462985

Proteomic databases

jPOSTiQ8N9W5
MassIVEiQ8N9W5
PaxDbiQ8N9W5
PeptideAtlasiQ8N9W5
PRIDEiQ8N9W5
ProteomicsDBi15295
72595 [Q8N9W5-1]
72596 [Q8N9W5-3]
72597 [Q8N9W5-5]
72598 [Q8N9W5-6]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
50890, 81 antibodies

Genome annotation databases

EnsembliENST00000391720; ENSP00000375600; ENSG00000167646 [Q8N9W5-6]
ENST00000455045; ENSP00000394343; ENSG00000167646 [Q8N9W5-7]
ENST00000524407; ENSP00000432046; ENSG00000167646 [Q8N9W5-1]
ENST00000527223; ENSP00000436975; ENSG00000167646 [Q8N9W5-3]
ENST00000528412; ENSP00000433826; ENSG00000167646 [Q8N9W5-5]
ENST00000534214; ENSP00000433247; ENSG00000167646 [Q8N9W5-5]
GeneIDi352909
KEGGihsa:352909
UCSCiuc002qji.3, human [Q8N9W5-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
352909
DisGeNETi352909
EuPathDBiHostDB:ENSG00000167646.13

GeneCards: human genes, protein and diseases

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GeneCardsi
DNAAF3
GeneReviewsiDNAAF3
HGNCiHGNC:30492, DNAAF3
MalaCardsiDNAAF3
MIMi606763, phenotype
614566, gene
neXtProtiNX_Q8N9W5
OpenTargetsiENSG00000167646
Orphaneti244, Primary ciliary dyskinesia
PharmGKBiPA147358371

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QT97, Eukaryota
GeneTreeiENSGT00390000002069
HOGENOMiCLU_156270_0_0_1
InParanoidiQ8N9W5
KOiK19752
OMAiPEYEQCK
OrthoDBi681465at2759
PhylomeDBiQ8N9W5

Enzyme and pathway databases

PathwayCommonsiQ8N9W5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
352909, 2 hits in 868 CRISPR screens

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

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GenomeRNAii
352909
PharosiQ8N9W5, Tbio

Protein Ontology

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PROi
PR:Q8N9W5
RNActiQ8N9W5, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000167646, Expressed in apex of heart and 118 other tissues
ExpressionAtlasiQ8N9W5, baseline and differential
GenevisibleiQ8N9W5, HS

Family and domain databases

InterProiView protein in InterPro
IPR039304, DNAAF3
IPR028235, DNAAF3_C
IPR027974, DUF4470
PANTHERiPTHR22118, PTHR22118, 1 hit
PfamiView protein in Pfam
PF14737, DUF4470, 1 hit
PF14740, DUF4471, 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 nameiDAAF3_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: Q8N9W5
Secondary accession number(s): A8MUY0
, E3W9A1, E9PAX5, Q6P4F6, Q8N9W0, Q96AR2
<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 21, 2007
Last sequence update: September 12, 2018
Last modified: August 12, 2020
This is version 127 of the entry and version 4 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

Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
  6. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries
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