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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-Experimental evidence at protein leveli

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

GO - Molecular functioni

  • dynein intermediate chain binding Source: UniProtKB

GO - Biological processi

  • cilium movement Source: UniProtKB
  • inner dynein arm assembly Source: UniProtKB
  • outer dynein arm assembly Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Names & Taxonomyi

Protein namesi
Recommended name:
Dynein assembly factor 5, axonemal1 PublicationImported
Alternative name(s):
HEAT repeat-containing protein 2Curated
Gene namesi
Name:DNAAF51 PublicationImported
Synonyms:HEATR2Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:26013. DNAAF5.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

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.
See also OMIM:614874
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068969795L → P in CILD18; decreased protein abundance. 1 PublicationCorresponds to variant rs397514561dbSNPEnsembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNETi54919.
MIMi614874. phenotype.
OpenTargetsiENSG00000164818.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA145008229.

Polymorphism and mutation databases

BioMutaiHEATR2.
DMDMi317373567.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000508202 – 855Dynein assembly factor 5, axonemalAdd BLAST854

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ86Y56.
MaxQBiQ86Y56.
PaxDbiQ86Y56.
PeptideAtlasiQ86Y56.
PRIDEiQ86Y56.

PTM databases

iPTMnetiQ86Y56.
PhosphoSitePlusiQ86Y56.

Expressioni

Tissue specificityi

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

Developmental stagei

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

Gene expression databases

BgeeiENSG00000164818.
CleanExiHS_HEATR2.
ExpressionAtlasiQ86Y56. baseline and differential.
GenevisibleiQ86Y56. HS.

Organism-specific databases

HPAiHPA020243.

Interactioni

Subunit structurei

Interacts with DNAI2; probably involved in outer arm dynein assembly.1 Publication

GO - Molecular functioni

  • dynein intermediate chain binding Source: UniProtKB

Protein-protein interaction databases

BioGridi120260. 61 interactors.
IntActiQ86Y56. 11 interactors.
MINTiMINT-1391398.
STRINGi9606.ENSP00000297440.

Structurei

3D structure databases

ProteinModelPortaliQ86Y56.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

Sequence similaritiesi

Belongs to the DNAAF5 family.Curated
Contains 10 HEAT repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IG21. Eukaryota.
ENOG410XT7F. LUCA.
GeneTreeiENSGT00390000005666.
HOGENOMiHOG000007194.
HOVERGENiHBG079488.
InParanoidiQ86Y56.
KOiK19759.
OMAiPEHFHMQ.
OrthoDBiEOG091G06Y9.
PhylomeDBiQ86Y56.
TreeFamiTF326738.

Family and domain databases

Gene3Di1.25.10.10. 3 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR000357. HEAT.
IPR021133. HEAT_type_2.
[Graphical view]
PfamiPF02985. HEAT. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.
PROSITEiPS50077. HEAT_REPEAT. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86Y56-1) [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
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
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

Sequence cautioni

The sequence AAH10850 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 rs73258248dbSNPEnsembl.1
Natural variantiVAR_056911632V → A.Corresponds to variant rs4720951dbSNPEnsembl.1
Natural variantiVAR_060464743R → K.3 PublicationsCorresponds to variant rs3922641dbSNPEnsembl.1
Natural variantiVAR_068969795L → P in CILD18; decreased protein abundance. 1 PublicationCorresponds to variant rs397514561dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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]
UniGeneiHs.535896.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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]
UniGeneiHs.535896.

3D structure databases

ProteinModelPortaliQ86Y56.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120260. 61 interactors.
IntActiQ86Y56. 11 interactors.
MINTiMINT-1391398.
STRINGi9606.ENSP00000297440.

PTM databases

iPTMnetiQ86Y56.
PhosphoSitePlusiQ86Y56.

Polymorphism and mutation databases

BioMutaiHEATR2.
DMDMi317373567.

Proteomic databases

EPDiQ86Y56.
MaxQBiQ86Y56.
PaxDbiQ86Y56.
PeptideAtlasiQ86Y56.
PRIDEiQ86Y56.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi54919.
DisGeNETi54919.
GeneCardsiDNAAF5.
GeneReviewsiHEATR2.
H-InvDBHIX0006405.
HIX0200638.
HGNCiHGNC:26013. DNAAF5.
HPAiHPA020243.
MIMi614864. gene.
614874. phenotype.
neXtProtiNX_Q86Y56.
OpenTargetsiENSG00000164818.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA145008229.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IG21. Eukaryota.
ENOG410XT7F. LUCA.
GeneTreeiENSGT00390000005666.
HOGENOMiHOG000007194.
HOVERGENiHBG079488.
InParanoidiQ86Y56.
KOiK19759.
OMAiPEHFHMQ.
OrthoDBiEOG091G06Y9.
PhylomeDBiQ86Y56.
TreeFamiTF326738.

Miscellaneous databases

ChiTaRSiHEATR2. human.
GenomeRNAii54919.
PROiQ86Y56.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164818.
CleanExiHS_HEATR2.
ExpressionAtlasiQ86Y56. baseline and differential.
GenevisibleiQ86Y56. HS.

Family and domain databases

Gene3Di1.25.10.10. 3 hits.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR000357. HEAT.
IPR021133. HEAT_type_2.
[Graphical view]
PfamiPF02985. HEAT. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.
PROSITEiPS50077. HEAT_REPEAT. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDAAF5_HUMAN
AccessioniPrimary (citable) accession number: Q86Y56
Secondary accession number(s): Q69YL1, Q96FI9, Q9NX75
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 8, 2005
Last sequence update: January 11, 2011
Last modified: November 30, 2016
This is version 134 of the entry and version 4 of the sequence. [Complete history]
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.

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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.