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Entry version 156 (16 Oct 2019)
Sequence version 4 (11 Jan 2011)
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Protein

Dynein assembly factor 5, axonemal

Gene

DNAAF5

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

Cytoplasmic protein involved in the delivery of the dynein machinery to the motile cilium. It is required for the assembly of the axonemal dynein inner and outer arms, two structures attached to the peripheral outer doublet A microtubule of the axoneme, that play a crucial role in cilium motility.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 processCilium biogenesis/degradation

<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 5, axonemal1 PublicationImported
Alternative name(s):
HEAT repeat-containing protein 2Curated
<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:DNAAF51 PublicationImported
Synonyms:HEATR2Imported
<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 7

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26013 DNAAF5

Online Mendelian Inheritance in Man (OMIM)

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MIMi
614864 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q86Y56

<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, 18 (CILD18)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; 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_068969795L → P in CILD18; decreased protein abundance. 1 PublicationCorresponds to variant dbSNP:rs397514561EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNET

More...
DisGeNETi
54919

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

More...
GeneReviewsi
DNAAF5

MalaCards human disease database

More...
MalaCardsi
DNAAF5
MIMi614874 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000164818

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
PA145008229

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q86Y56

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DNAAF5

Domain mapping of disease mutations (DMDM)

More...
DMDMi
317373567

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<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_00000508202 – 855Dynein assembly factor 5, axonemalAdd BLAST854

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q86Y56

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q86Y56

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q86Y56

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q86Y56

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

More...
PaxDbi
Q86Y56

PeptideAtlas

More...
PeptideAtlasi
Q86Y56

PRoteomics IDEntifications database

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PRIDEi
Q86Y56

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
70375 [Q86Y56-1]
70376 [Q86Y56-2]
70377 [Q86Y56-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q86Y56

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

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PhosphoSitePlusi
Q86Y56

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q86Y56

<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 nasal epithelium and lung epithelium by ciliated cells (at protein level).1 Publication

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed by immature cells in the process of extending cilia.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000164818 Expressed in 219 organ(s), highest expression level in quadriceps femoris

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q86Y56 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q86Y56 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA020243

<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 DNAI2; probably involved in outer arm dynein assembly.

1 Publication

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
120260, 82 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q86Y56

Protein interaction database and analysis system

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IntActi
Q86Y56, 26 interactors

Molecular INTeraction database

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MINTi
Q86Y56

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000297440

<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>Repeati71 – 109HEAT 1Add BLAST39
Repeati202 – 240HEAT 2Add BLAST39
Repeati241 – 278HEAT 3Add BLAST38
Repeati280 – 318HEAT 4Add BLAST39
Repeati354 – 376HEAT 5Add BLAST23
Repeati377 – 414HEAT 6Add BLAST38
Repeati599 – 638HEAT 7Add BLAST40
Repeati696 – 734HEAT 8Add BLAST39
Repeati738 – 776HEAT 9Add BLAST39
Repeati784 – 822HEAT 10Add BLAST39

<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 DNAAF5 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IG21 Eukaryota
ENOG410XT7F LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000005666

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000007194

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q86Y56

KEGG Orthology (KO)

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KOi
K19759

Identification of Orthologs from Complete Genome Data

More...
OMAi
RKHMGPL

Database of Orthologous Groups

More...
OrthoDBi
123510at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q86Y56

TreeFam database of animal gene trees

More...
TreeFami
TF326738

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.10.10, 3 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR021133 HEAT_type_2
IPR034085 TOG

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01349 TOG, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48371 SSF48371, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50077 HEAT_REPEAT, 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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<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: Q86Y56-1) [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
MAALGVAEAV AAPHPAEGAE TAEAVELSRA LSRLLPGLEA DSKPGRRRAL
60 70 80 90 100
EALRRALEEP GPAADPTAFQ GPWARLLLPR LLRCLSDPAE GCRALAVHLL
110 120 130 140 150
DLGLRRAARP RDALPRLLPA LAARLAGPVP ARRPPEACEE LRLALVQLLG
160 170 180 190 200
LAVDLCGAAL APHLDDALRA LRCSLLDPFA AVRRESCSCA AALAQATPDH
210 220 230 240 250
FHMQSESLIG PLMQTISHQH WKVRVAAIEA TGAVIHFGNG KSVDDVLSHF
260 270 280 290 300
AQRLFDDVPQ VRRAVASVVG GWLLCLRDRY SFFHKLIPLL LSSLNDEVPE
310 320 330 340 350
VRQLAASLWE DVGLQWQKEN EEDLKDKLDF APPTPPHYPP HERRPVLGCR
360 370 380 390 400
ELVFRNLSKI LPALCHDITD WVVGTRVKSA QLLPVLLLHA EDHATQHLEV
410 420 430 440 450
VLRTLFQACT DEEAAVVQSC TRSAELVGTF VSPEVFLKLI LSTLKKTPSA
460 470 480 490 500
SGLLVLASAM RGCPREALQP HLAAIATELA QAHICQASEN DLYLERLLLC
510 520 530 540 550
VQALVSVCHE DCGVASLQLL DVLLTIVALA GATGLRDKAQ ETMDSLAMVE
560 570 580 590 600
GVSSCQDLYR KHIGPLLERV TASHLDWTAH SPELLQFSVI VAQSGPALGE
610 620 630 640 650
ALPHVVPTLR ACLQPSQDPQ MRLKLFSILS TVLLRATDTI NSQGQFPSYL
660 670 680 690 700
ETVTKDILAP NLQWHAGRTA AAIRTAAVSC LWALTSSEVL SAEQIRDVQE
710 720 730 740 750
TLMPQVLTTL EEDSKMTRLI SCRIINTFLK TSGGMTDPEK LIRIYPELLK
760 770 780 790 800
RLDDVSNDVR MAAASTLVTW LQCVKGANAK SYYQSSVQYL YRELLVHLDD
810 820 830 840 850
PERAIQDAIL EVLKEGSGLF PDLLVRETEA VIHKHRSATY CEQLLQHVQA

VPATQ
Length:855
Mass (Da):93,521
Last modified:January 11, 2011 - 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:iD1ED73FAEAC8F54C
GO
Isoform 2 (identifier: Q86Y56-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     811-855: EVLKEGSGLF...QHVQAVPATQ → DVPGSPSPSAMIGSFLRPPHPWRTVSQLNLFSS

Note: No experimental confirmation available.
Show »
Length:843
Mass (Da):92,044
Checksum:i2C9D9B186A452568
GO
Isoform 3 (identifier: Q86Y56-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-620: Missing.

Note: No experimental confirmation available.
Show »
Length:235
Mass (Da):26,361
Checksum:i4B8A87065D76E953
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
E9PGY2E9PGY2_HUMAN
Dynein assembly factor 5, axonemal
DNAAF5
280Annotation 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>
H0Y650H0Y650_HUMAN
Dynein assembly factor 5, axonemal
DNAAF5
657Annotation 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>
H7C3B1H7C3B1_HUMAN
Dynein assembly factor 5, axonemal
DNAAF5
195Annotation 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 AAH10850 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti128P → H in AAH47240 (PubMed:15489334).Curated1
Sequence conflicti419 – 421SCT → TSS in AAH10850 (PubMed:15489334).Curated3
Sequence conflicti454L → M in AAH47240 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060463560R → C. Corresponds to variant dbSNP:rs73258248EnsemblClinVar.1
Natural variantiVAR_056911632V → A. Corresponds to variant dbSNP:rs4720951EnsemblClinVar.1
Natural variantiVAR_060464743R → K3 PublicationsCorresponds to variant dbSNP:rs3922641EnsemblClinVar.1
Natural variantiVAR_068969795L → P in CILD18; decreased protein abundance. 1 PublicationCorresponds to variant dbSNP:rs397514561EnsemblClinVar.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_0161091 – 620Missing in isoform 3. 1 PublicationAdd BLAST620
Alternative sequenceiVSP_016110811 – 855EVLKE…VPATQ → DVPGSPSPSAMIGSFLRPPH PWRTVSQLNLFSS in isoform 2. 1 PublicationAdd BLAST45

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

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DDBJi
Links Updated
AK000404 mRNA Translation: BAA91142.1
AC144411 Genomic DNA No translation available.
BC010850 mRNA Translation: AAH10850.1 Different initiation.
BC047240 mRNA Translation: AAH47240.1
AL832914 mRNA Translation: CAH10624.2

The Consensus CDS (CCDS) project

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CCDSi
CCDS34580.1 [Q86Y56-1]

NCBI Reference Sequences

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RefSeqi
NP_060272.3, NM_017802.3 [Q86Y56-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000297440; ENSP00000297440; ENSG00000164818 [Q86Y56-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
54919

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:54919

UCSC genome browser

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UCSCi
uc010krz.2 human [Q86Y56-1]

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
AK000404 mRNA Translation: BAA91142.1
AC144411 Genomic DNA No translation available.
BC010850 mRNA Translation: AAH10850.1 Different initiation.
BC047240 mRNA Translation: AAH47240.1
AL832914 mRNA Translation: CAH10624.2
CCDSiCCDS34580.1 [Q86Y56-1]
RefSeqiNP_060272.3, NM_017802.3 [Q86Y56-1]

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi120260, 82 interactors
CORUMiQ86Y56
IntActiQ86Y56, 26 interactors
MINTiQ86Y56
STRINGi9606.ENSP00000297440

PTM databases

iPTMnetiQ86Y56
PhosphoSitePlusiQ86Y56
SwissPalmiQ86Y56

Polymorphism and mutation databases

BioMutaiDNAAF5
DMDMi317373567

Proteomic databases

EPDiQ86Y56
jPOSTiQ86Y56
MassIVEiQ86Y56
MaxQBiQ86Y56
PaxDbiQ86Y56
PeptideAtlasiQ86Y56
PRIDEiQ86Y56
ProteomicsDBi70375 [Q86Y56-1]
70376 [Q86Y56-2]
70377 [Q86Y56-3]

Genome annotation databases

EnsembliENST00000297440; ENSP00000297440; ENSG00000164818 [Q86Y56-1]
GeneIDi54919
KEGGihsa:54919
UCSCiuc010krz.2 human [Q86Y56-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
54919
DisGeNETi54919

GeneCards: human genes, protein and diseases

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GeneCardsi
DNAAF5
GeneReviewsiDNAAF5
HGNCiHGNC:26013 DNAAF5
HPAiHPA020243
MalaCardsiDNAAF5
MIMi614864 gene
614874 phenotype
neXtProtiNX_Q86Y56
OpenTargetsiENSG00000164818
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA145008229

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IG21 Eukaryota
ENOG410XT7F LUCA
GeneTreeiENSGT00390000005666
HOGENOMiHOG000007194
InParanoidiQ86Y56
KOiK19759
OMAiRKHMGPL
OrthoDBi123510at2759
PhylomeDBiQ86Y56
TreeFamiTF326738

Miscellaneous databases

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

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ChiTaRSi
DNAAF5 human

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

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GenomeRNAii
54919
PharosiQ86Y56

Protein Ontology

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PROi
PR:Q86Y56

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000164818 Expressed in 219 organ(s), highest expression level in quadriceps femoris
ExpressionAtlasiQ86Y56 baseline and differential
GenevisibleiQ86Y56 HS

Family and domain databases

Gene3Di1.25.10.10, 3 hits
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR021133 HEAT_type_2
IPR034085 TOG
SMARTiView protein in SMART
SM01349 TOG, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS50077 HEAT_REPEAT, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiDAAF5_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: Q86Y56
Secondary accession number(s): Q69YL1, Q96FI9, Q9NX75
<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 8, 2005
Last sequence update: January 11, 2011
Last modified: October 16, 2019
This is version 156 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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