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Entry version 167 (18 Sep 2019)
Sequence version 2 (14 Oct 2008)
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Protein

Dynein assembly factor 4, axonemal

Gene

DNAAF4

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

Axonemal dynein assembly factor required for ciliary motility. Involved in neuronal migration during development of the cerebral neocortex. May regulate the stability and proteasomal degradation of the estrogen receptors that play an important role in neuronal differentiation, survival and plasticity.2 Publications

<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 processNeurogenesis

<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:
Dynein assembly factor 4, axonemalImported
Alternative name(s):
Dyslexia susceptibility 1 candidate gene 1 protein
<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:DNAAF4Imported
Synonyms:DYX1C1, EKN1
<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 15

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:21493 DNAAF4

Online Mendelian Inheritance in Man (OMIM)

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MIMi
608706 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8WXU2

<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, Nucleus

<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

Dyslexia 1 (DYX1)
Disease susceptibility is associated with variations affecting the gene represented in this entry. A chromosomal aberration involving DNAAF4 has been found in a family affected by dyslexia. Translocation t(2;15)(q11;q21).
Disease descriptionA relatively common, complex cognitive disorder characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities. It is a multifactorial trait, with evidence for familial clustering and heritability.
Related information in OMIM
Ciliary dyskinesia, primary, 25 (CILD25)2 Publications
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. Patients may 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

Keywords - Diseasei

Ciliopathy, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNET

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DisGeNETi
161582

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

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GeneReviewsi
DNAAF4

MalaCards human disease database

More...
MalaCardsi
DNAAF4
MIMi127700 phenotype
615482 phenotype

Open Targets

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OpenTargetsi
ENSG00000256061

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

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Orphaneti
244 Primary ciliary dyskinesia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134870600

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DNAAF4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
209572610

<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_00001062841 – 420Dynein assembly factor 4, axonemalAdd BLAST420

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8WXU2

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8WXU2

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8WXU2

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

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PaxDbi
Q8WXU2

PeptideAtlas

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PeptideAtlasi
Q8WXU2

PRoteomics IDEntifications database

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PRIDEi
Q8WXU2

ProteomicsDB human proteome resource

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ProteomicsDBi
75102 [Q8WXU2-1]
75103 [Q8WXU2-2]
75104 [Q8WXU2-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8WXU2

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

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PhosphoSitePlusi
Q8WXU2

<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

Expressed in several tissues, including brain, lung, kidney and testis. In brain localizes to a fraction of cortical neurons and white matter glial cells.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000256061 Expressed in 129 organ(s), highest expression level in bronchial epithelial cell

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8WXU2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8WXU2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA051048

<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 ZMYND10 (PubMed:29601588).

Interacts with ESR1 and ESR2 (PubMed:19423554).

Interacts with STUB1 (PubMed:19423554).

Interacts with DNAAF2 (PubMed:23872636).

Interacts with CCT3, CCT4, CCT5 and CCT8 (By similarity).

Interacts with PIH1D3 (PubMed:28041644).

By similarity4 Publications

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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
127797, 16 interactors

Protein interaction database and analysis system

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IntActi
Q8WXU2, 16 interactors

Molecular INTeraction database

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MINTi
Q8WXU2

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000323275

<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
Q8WXU2

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_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini3 – 87CSPROSITE-ProRule annotationAdd BLAST85
<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>Repeati290 – 323TPR 1Add BLAST34
Repeati324 – 357TPR 2Add BLAST34
Repeati366 – 399TPR 3Add BLAST34

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>Regioni7 – 103Mediates interaction with ESR1 and STUB11 PublicationAdd BLAST97

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1124 Eukaryota
COG0457 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000004930

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000046868

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8WXU2

KEGG Orthology (KO)

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KOi
K19758

Identification of Orthologs from Complete Genome Data

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OMAi
PFLFEVF

Database of Orthologous Groups

More...
OrthoDBi
1398008at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8WXU2

TreeFam database of animal gene trees

More...
TreeFami
TF328983

Family and domain databases

Conserved Domains Database

More...
CDDi
cd06469 p23_DYX1C1_like, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.10, 1 hit
2.60.40.790, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR007052 CS_dom
IPR037894 CS_DYX1C1
IPR008978 HSP20-like_chaperone
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04969 CS, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00028 TPR, 3 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48452 SSF48452, 1 hit
SSF49764 SSF49764, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51203 CS, 1 hit
PS50005 TPR, 3 hits
PS50293 TPR_REGION, 1 hit

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

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

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8WXU2-1) [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
MPLQVSDYSW QQTKTAVFLS LPLKGVCVRD TDVFCTENYL KVNFPPFLFE
60 70 80 90 100
AFLYAPIDDE SSKAKIGNDT IVFTLYKKEA AMWETLSVTG VDKEMMQRIR
110 120 130 140 150
EKSILQAQER AKEATEAKAA AKREDQKYAL SVMMKIEEEE RKKIEDMKEN
160 170 180 190 200
ERIKATKALE AWKEYQRKAE EQKKIQREEK LCQKEKQIKE ERKKIKYKSL
210 220 230 240 250
TRNLASRNLA PKGRNSENIF TEKLKEDSIP APRSVGSIKI NFTPRVFPTA
260 270 280 290 300
LRESQVAEEE EWLHKQAEAR RAMNTDIAEL CDLKEEEKNP EWLKDKGNKL
310 320 330 340 350
FATENYLAAI NAYNLAIRLN NKMPLLYLNR AACHLKLKNL HKAIEDSSKA
360 370 380 390 400
LELLMPPVTD NANARMKAHV RRGTAFCQLE LYVEGLQDYE AALKIDPSNK
410 420
IVQIDAEKIR NVIQGTELKS
Length:420
Mass (Da):48,527
Last modified:October 14, 2008 - 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:i6B8729B3F4ED5108
GO
Isoform 2 (identifier: Q8WXU2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     350-381: ALELLMPPVTDNANARMKAHVRRGTAFCQLEL → EFCSLEGIECQASEPKLSHHIPSDLHVYIQMA
     382-420: Missing.

Note: No experimental confirmation available.
Show »
Length:381
Mass (Da):44,201
Checksum:iD1CCD335FF5A0C48
GO
Isoform 3 (identifier: Q8WXU2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     351-420: LELLMPPVTD...NVIQGTELKS → YRIMKRHLRLIHPTKLYKLMLRRFGM

Note: No experimental confirmation available.
Show »
Length:376
Mass (Da):44,031
Checksum:i3761D3EEF990B85E
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DY92B4DY92_HUMAN
Dynein assembly factor 4, axonemal
DNAAF4
146Annotation 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>
E5RJ13E5RJ13_HUMAN
Dynein assembly factor 4, axonemal
DNAAF4
71Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0173832P → S1 PublicationCorresponds to variant dbSNP:rs143493699Ensembl.1
Natural variantiVAR_02621438N → K. Corresponds to variant dbSNP:rs16976354EnsemblClinVar.1
Natural variantiVAR_01738491V → I1 PublicationCorresponds to variant dbSNP:rs17819126EnsemblClinVar.1
Natural variantiVAR_017385191E → G2 PublicationsCorresponds to variant dbSNP:rs600753EnsemblClinVar.1
Natural variantiVAR_026215332A → V1 PublicationCorresponds to variant dbSNP:rs17855756Ensembl.1
Natural variantiVAR_017386420S → C1 PublicationCorresponds to variant dbSNP:rs77641439EnsemblClinVar.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_011822350 – 381ALELL…CQLEL → EFCSLEGIECQASEPKLSHH IPSDLHVYIQMA in isoform 2. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_041379351 – 420LELLM…TELKS → YRIMKRHLRLIHPTKLYKLM LRRFGM in isoform 3. 1 PublicationAdd BLAST70
Alternative sequenceiVSP_011823382 – 420Missing in isoform 2. 1 PublicationAdd BLAST39

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
AF337549 mRNA Translation: AAL73230.1
AK095201 mRNA Translation: BAC04498.1
AC013355 Genomic DNA No translation available.
AC022083 Genomic DNA No translation available.
BC062564 mRNA Translation: AAH62564.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS10154.1 [Q8WXU2-1]
CCDS32243.1 [Q8WXU2-2]
CCDS32244.1 [Q8WXU2-3]

NCBI Reference Sequences

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RefSeqi
NP_001028731.1, NM_001033559.2 [Q8WXU2-3]
NP_001028732.1, NM_001033560.1 [Q8WXU2-2]
NP_570722.2, NM_130810.3 [Q8WXU2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000321149; ENSP00000323275; ENSG00000256061 [Q8WXU2-1]
ENST00000348518; ENSP00000299561; ENSG00000256061 [Q8WXU2-1]
ENST00000448430; ENSP00000403412; ENSG00000256061 [Q8WXU2-2]
ENST00000457155; ENSP00000402640; ENSG00000256061 [Q8WXU2-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
161582

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:161582

UCSC genome browser

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UCSCi
uc002adc.3 human [Q8WXU2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, 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
AF337549 mRNA Translation: AAL73230.1
AK095201 mRNA Translation: BAC04498.1
AC013355 Genomic DNA No translation available.
AC022083 Genomic DNA No translation available.
BC062564 mRNA Translation: AAH62564.1
CCDSiCCDS10154.1 [Q8WXU2-1]
CCDS32243.1 [Q8WXU2-2]
CCDS32244.1 [Q8WXU2-3]
RefSeqiNP_001028731.1, NM_001033559.2 [Q8WXU2-3]
NP_001028732.1, NM_001033560.1 [Q8WXU2-2]
NP_570722.2, NM_130810.3 [Q8WXU2-1]

3D structure databases

SMRiQ8WXU2
ModBaseiSearch...

Protein-protein interaction databases

BioGridi127797, 16 interactors
IntActiQ8WXU2, 16 interactors
MINTiQ8WXU2
STRINGi9606.ENSP00000323275

PTM databases

iPTMnetiQ8WXU2
PhosphoSitePlusiQ8WXU2

Polymorphism and mutation databases

BioMutaiDNAAF4
DMDMi209572610

Proteomic databases

jPOSTiQ8WXU2
MassIVEiQ8WXU2
MaxQBiQ8WXU2
PaxDbiQ8WXU2
PeptideAtlasiQ8WXU2
PRIDEiQ8WXU2
ProteomicsDBi75102 [Q8WXU2-1]
75103 [Q8WXU2-2]
75104 [Q8WXU2-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000321149; ENSP00000323275; ENSG00000256061 [Q8WXU2-1]
ENST00000348518; ENSP00000299561; ENSG00000256061 [Q8WXU2-1]
ENST00000448430; ENSP00000403412; ENSG00000256061 [Q8WXU2-2]
ENST00000457155; ENSP00000402640; ENSG00000256061 [Q8WXU2-3]
GeneIDi161582
KEGGihsa:161582
UCSCiuc002adc.3 human [Q8WXU2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
161582
DisGeNETi161582

GeneCards: human genes, protein and diseases

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GeneCardsi
DNAAF4
GeneReviewsiDNAAF4
HGNCiHGNC:21493 DNAAF4
HPAiHPA051048
MalaCardsiDNAAF4
MIMi127700 phenotype
608706 gene
615482 phenotype
neXtProtiNX_Q8WXU2
OpenTargetsiENSG00000256061
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA134870600

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1124 Eukaryota
COG0457 LUCA
GeneTreeiENSGT00390000004930
HOGENOMiHOG000046868
InParanoidiQ8WXU2
KOiK19758
OMAiPFLFEVF
OrthoDBi1398008at2759
PhylomeDBiQ8WXU2
TreeFamiTF328983

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
DYX1C1

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

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GenomeRNAii
161582

Pharos

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Pharosi
Q8WXU2

Protein Ontology

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PROi
PR:Q8WXU2

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000256061 Expressed in 129 organ(s), highest expression level in bronchial epithelial cell
ExpressionAtlasiQ8WXU2 baseline and differential
GenevisibleiQ8WXU2 HS

Family and domain databases

CDDicd06469 p23_DYX1C1_like, 1 hit
Gene3Di1.25.40.10, 1 hit
2.60.40.790, 1 hit
InterProiView protein in InterPro
IPR007052 CS_dom
IPR037894 CS_DYX1C1
IPR008978 HSP20-like_chaperone
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
PfamiView protein in Pfam
PF04969 CS, 1 hit
SMARTiView protein in SMART
SM00028 TPR, 3 hits
SUPFAMiSSF48452 SSF48452, 1 hit
SSF49764 SSF49764, 1 hit
PROSITEiView protein in PROSITE
PS51203 CS, 1 hit
PS50005 TPR, 3 hits
PS50293 TPR_REGION, 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 nameiDAAF4_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: Q8WXU2
Secondary accession number(s): Q6P5Y9, Q8N1S6
<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: November 21, 2003
Last sequence update: October 14, 2008
Last modified: September 18, 2019
This is version 167 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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