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Protein

Dynein assembly factor 1, axonemal

Gene

DNAAF1

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

Cilium-specific protein required for the stability of the ciliary architecture. Plays a role in cytoplasmic preassembly of dynein arms. Involved in regulation of microtubule-based cilia and actin-based brush border microvilli.3 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

  • dynein complex binding Source: UniProtKB

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:
Dynein assembly factor 1, axonemal
Alternative name(s):
Leucine-rich repeat-containing protein 50
<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:DNAAF1
Synonyms:LRRC50
<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 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000154099.17

Human Gene Nomenclature Database

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HGNCi
HGNC:30539 DNAAF1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
613190 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NEP3

<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; 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

Cell projection, Cilium, 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

<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, 13 (CILD13)3 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; 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. At ultrastructural level, CILD13 is characterized by a marked reduction or absence of both dynein arms from the patients cilia.
See also OMIM:613193
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_06309742 – 117Missing in CILD13. 1 PublicationAdd BLAST76
Natural variantiVAR_063098175L → R in CILD13. 1 PublicationCorresponds to variant dbSNP:rs267607227EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNET

More...
DisGeNETi
123872

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

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GeneReviewsi
DNAAF1

MalaCards human disease database

More...
MalaCardsi
DNAAF1
MIMi613193 phenotype

Open Targets

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OpenTargetsi
ENSG00000154099

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

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PharmGKBi
PA142671510

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DNAAF1

Domain mapping of disease mutations (DMDM)

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DMDMi
215274261

<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_00002328891 – 725Dynein assembly factor 1, axonemalAdd BLAST725

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 residuei358PhosphoserineBy similarity1
Modified residuei559PhosphothreonineBy similarity1
Modified residuei562PhosphoserineBy similarity1
Modified residuei583PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

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

More...
PaxDbi
Q8NEP3

PeptideAtlas

More...
PeptideAtlasi
Q8NEP3

PRoteomics IDEntifications database

More...
PRIDEi
Q8NEP3

ProteomicsDB human proteome resource

More...
ProteomicsDBi
73190
73191 [Q8NEP3-2]
73192 [Q8NEP3-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NEP3

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

More...
PhosphoSitePlusi
Q8NEP3

<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

Mainly expressed in trachea and testis.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000154099 Expressed in 163 organ(s), highest expression level in right uterine tube

CleanEx database of gene expression profiles

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CleanExi
HS_LRRC50

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8NEP3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NEP3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA041166
HPA074239

<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
125839, 5 interactors

Protein interaction database and analysis system

More...
IntActi
Q8NEP3, 6 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000367815

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q8NEP3

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 ‘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>Repeati107 – 129LRR 1Add BLAST23
Repeati130 – 151LRR 2Add BLAST22
Repeati152 – 173LRR 3Add BLAST22
Repeati174 – 195LRR 4Add BLAST22
Repeati196 – 217LRR 5Add BLAST22
Repeati221 – 242LRR 6Add BLAST22
<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>Domaini256 – 294LRRCTAdd BLAST39

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi391 – 513Pro-richAdd BLAST123

<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 DNAAF1 family.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IG8N Eukaryota
ENOG410XQAN LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158494

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG066969

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8NEP3

KEGG Orthology (KO)

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KOi
K19750

Identification of Orthologs from Complete Genome Data

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OMAi
CLFLQVN

Database of Orthologous Groups

More...
OrthoDBi
EOG091G01J2

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NEP3

TreeFam database of animal gene trees

More...
TreeFami
TF315818

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.80.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR027734 DNAAF1
IPR001611 Leu-rich_rpt
IPR032675 LRR_dom_sf

The PANTHER Classification System

More...
PANTHERi
PTHR45256 PTHR45256, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51450 LRR, 6 hits

<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>.<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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NEP3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MHPEPSEPAT GGAAELDCAQ EPGVEESAGD HGSAGRGGCK EEINDPKEIC
60 70 80 90 100
VGSSDTSYHS QQKQSGDNGS GGHFAHPRED REDRGPRMTK SSLQKLCKQH
110 120 130 140 150
KLYITPALND TLYLHFKGFD RIENLEEYTG LRCLWLQSNG IQKIENLEAQ
160 170 180 190 200
TELRCLFLQM NLLRKIENLE PLQKLDALNL SNNYIKTIEN LSCLPVLNTL
210 220 230 240 250
QMAHNHLETV EDIQHLQECL RLCVLDLSHN KLSDPEILSI LESMPDLRVL
260 270 280 290 300
NLMGNPVIRQ IPNYRRTVTV RLKHLTYLDD RPVFPKDRAC AEAWARGGYA
310 320 330 340 350
AEKEERQQWE SRERKKITDS IEALAMIKQR AEERKRQRES QERGEMTSSD
360 370 380 390 400
DGENVPASAE GKEEPPGDRE TRQKMELFVK ESFEAKDELC PEKPSGEEPP
410 420 430 440 450
VEAKREDGGP EPEGTLPAET LLLSSPVEVK GEDGDGEPEG TLPAEAPPPP
460 470 480 490 500
PPVEVKGEDG DQEPEGTLPA ETLLLSPPVK VKGEDGDREP EGTLPAEAPP
510 520 530 540 550
PPPLGAAREE PTPQAVATEG VFVTELDGTR TEDLETIRLE TKETFCIDDL
560 570 580 590 600
PDLEDDDETG KSLEDQNMCF PKIEVISSLS DDSDPELDYT SLPVLENLPT
610 620 630 640 650
DTLSNIFAVS KDTSKAARVP FTDIFKKEAK RDLEIRKQDT KSPRPLIQEL
660 670 680 690 700
SDEDPSGQLL MPPTCQRDAA PLTSSGDRDS DFLAASSPVP TESAATPPET
710 720
CVGVAQPSQA LPTWDLTAFP APKAS
Length:725
Mass (Da):80,026
Last modified:November 25, 2008 - v5
<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:iCFDBF86796FA61B0
GO
Isoform 2 (identifier: Q8NEP3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-252: Missing.
     343-343: R → RGMRSAEDNSPRVPLRL

Note: No experimental confirmation available.
Show »
Length:489
Mass (Da):53,531
Checksum:i5661910591E86359
GO
Isoform 3 (identifier: Q8NEP3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     409-725: GPEPEGTLPA...LTAFPAPKAS → DPATVTACEG

Note: No experimental confirmation available.
Show »
Length:418
Mass (Da):47,267
Checksum:i2BF7BA4C8CE55708
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
H3BP51H3BP51_HUMAN
Dynein assembly factor 1, axonemal
DNAAF1
247Annotation 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>
H3BNQ4H3BNQ4_HUMAN
Dynein assembly factor 1, axonemal
DNAAF1
190Annotation 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>
H3BV09H3BV09_HUMAN
Dynein assembly factor 1, axonemal
DNAAF1
58Annotation 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 BAB71645 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti307Q → E in CAH10390 (PubMed:17974005).Curated1
Sequence conflicti366P → L in CAH10394 (PubMed:17974005).Curated1
Sequence conflicti457G → R in BAG58765 (PubMed:15616553).Curated1
Sequence conflicti485D → G in CAH10394 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06309742 – 117Missing in CILD13. 1 PublicationAdd BLAST76
Natural variantiVAR_063098175L → R in CILD13. 1 PublicationCorresponds to variant dbSNP:rs267607227EnsemblClinVar.1
Natural variantiVAR_047662387D → E. Corresponds to variant dbSNP:rs36062234EnsemblClinVar.1
Natural variantiVAR_047663393K → R3 PublicationsCorresponds to variant dbSNP:rs17856705EnsemblClinVar.1
Natural variantiVAR_047664432E → D. Corresponds to variant dbSNP:rs9972733EnsemblClinVar.1
Natural variantiVAR_047665502P → L3 PublicationsCorresponds to variant dbSNP:rs11644164EnsemblClinVar.1
Natural variantiVAR_047666545F → C1 PublicationCorresponds to variant dbSNP:rs17856706Ensembl.1
Natural variantiVAR_047667633L → S2 PublicationsCorresponds to variant dbSNP:rs2288020EnsemblClinVar.1
Natural variantiVAR_047668659L → P2 PublicationsCorresponds to variant dbSNP:rs2288022EnsemblClinVar.1
Natural variantiVAR_047669659L → V. Corresponds to variant dbSNP:rs2288021EnsemblClinVar.1
Natural variantiVAR_047670675S → T2 PublicationsCorresponds to variant dbSNP:rs2288023EnsemblClinVar.1
Natural variantiVAR_047671703G → R. Corresponds to variant dbSNP:rs4150188EnsemblClinVar.1
Natural variantiVAR_047672712P → A. Corresponds to variant dbSNP:rs4150187EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0363541 – 252Missing in isoform 2. 1 PublicationAdd BLAST252
Alternative sequenceiVSP_036355343R → RGMRSAEDNSPRVPLRL in isoform 2. 1 Publication1
Alternative sequenceiVSP_036356409 – 725GPEPE…APKAS → DPATVTACEG in isoform 3. 1 PublicationAdd BLAST317

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
AK057238 mRNA Translation: BAB71392.1
AK058059 mRNA Translation: BAB71645.1 Different initiation.
AK295990 mRNA Translation: BAG58765.1
AC009123 Genomic DNA No translation available.
AC040169 Genomic DNA No translation available.
BC024009 mRNA Translation: AAH24009.3
AL137334 mRNA Translation: CAH10706.1
AL833328 mRNA Translation: CAH10390.1
AL833336 mRNA Translation: CAH10394.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10943.2 [Q8NEP3-1]

NCBI Reference Sequences

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RefSeqi
NP_001305685.1, NM_001318756.1 [Q8NEP3-2]
NP_848547.4, NM_178452.5 [Q8NEP3-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.310164

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000378553; ENSP00000367815; ENSG00000154099 [Q8NEP3-1]
ENST00000563093; ENSP00000457373; ENSG00000154099 [Q8NEP3-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
123872

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:123872

UCSC genome browser

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UCSCi
uc002fhl.5 human [Q8NEP3-1]

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
AK057238 mRNA Translation: BAB71392.1
AK058059 mRNA Translation: BAB71645.1 Different initiation.
AK295990 mRNA Translation: BAG58765.1
AC009123 Genomic DNA No translation available.
AC040169 Genomic DNA No translation available.
BC024009 mRNA Translation: AAH24009.3
AL137334 mRNA Translation: CAH10706.1
AL833328 mRNA Translation: CAH10390.1
AL833336 mRNA Translation: CAH10394.1
CCDSiCCDS10943.2 [Q8NEP3-1]
RefSeqiNP_001305685.1, NM_001318756.1 [Q8NEP3-2]
NP_848547.4, NM_178452.5 [Q8NEP3-1]
UniGeneiHs.310164

3D structure databases

ProteinModelPortaliQ8NEP3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125839, 5 interactors
IntActiQ8NEP3, 6 interactors
STRINGi9606.ENSP00000367815

PTM databases

iPTMnetiQ8NEP3
PhosphoSitePlusiQ8NEP3

Polymorphism and mutation databases

BioMutaiDNAAF1
DMDMi215274261

Proteomic databases

PaxDbiQ8NEP3
PeptideAtlasiQ8NEP3
PRIDEiQ8NEP3
ProteomicsDBi73190
73191 [Q8NEP3-2]
73192 [Q8NEP3-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000378553; ENSP00000367815; ENSG00000154099 [Q8NEP3-1]
ENST00000563093; ENSP00000457373; ENSG00000154099 [Q8NEP3-3]
GeneIDi123872
KEGGihsa:123872
UCSCiuc002fhl.5 human [Q8NEP3-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
123872
DisGeNETi123872
EuPathDBiHostDB:ENSG00000154099.17

GeneCards: human genes, protein and diseases

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GeneCardsi
DNAAF1
GeneReviewsiDNAAF1

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0013289
HGNCiHGNC:30539 DNAAF1
HPAiHPA041166
HPA074239
MalaCardsiDNAAF1
MIMi613190 gene
613193 phenotype
neXtProtiNX_Q8NEP3
OpenTargetsiENSG00000154099
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA142671510

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IG8N Eukaryota
ENOG410XQAN LUCA
GeneTreeiENSGT00940000158494
HOVERGENiHBG066969
InParanoidiQ8NEP3
KOiK19750
OMAiCLFLQVN
OrthoDBiEOG091G01J2
PhylomeDBiQ8NEP3
TreeFamiTF315818

Miscellaneous databases

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

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ChiTaRSi
DNAAF1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
LRRC50

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

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GenomeRNAii
123872

Protein Ontology

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PROi
PR:Q8NEP3

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000154099 Expressed in 163 organ(s), highest expression level in right uterine tube
CleanExiHS_LRRC50
ExpressionAtlasiQ8NEP3 baseline and differential
GenevisibleiQ8NEP3 HS

Family and domain databases

Gene3Di3.80.10.10, 2 hits
InterProiView protein in InterPro
IPR027734 DNAAF1
IPR001611 Leu-rich_rpt
IPR032675 LRR_dom_sf
PANTHERiPTHR45256 PTHR45256, 2 hits
PROSITEiView protein in PROSITE
PS51450 LRR, 6 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiDAAF1_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: Q8NEP3
Secondary accession number(s): B4DJA3
, Q69YI8, Q69YJ0, Q69YW5, Q96LP3, Q96MB6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 18, 2006
Last sequence update: November 25, 2008
Last modified: December 5, 2018
This is version 139 of the entry and version 5 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. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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