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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-Experimental evidence at protein leveli

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

GO - Molecular functioni

  • dynein binding Source: UniProtKB

GO - Biological processi

  • axonemal dynein complex assembly Source: UniProtKB
  • cilium morphogenesis Source: UniProtKB
  • cilium movement Source: BHF-UCL
  • determination of digestive tract left/right asymmetry Source: BHF-UCL
  • determination of liver left/right asymmetry Source: BHF-UCL
  • determination of pancreatic left/right asymmetry Source: BHF-UCL
  • epithelial cilium movement involved in determination of left/right asymmetry Source: BHF-UCL
  • heart looping Source: BHF-UCL
  • inner dynein arm assembly Source: BHF-UCL
  • left/right pattern formation Source: BHF-UCL
  • lung development Source: BHF-UCL
  • motile cilium assembly Source: BHF-UCL
  • outer dynein arm assembly Source: BHF-UCL
  • regulation of cilium beat frequency Source: BHF-UCL
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Dynein assembly factor 1, axonemal
Alternative name(s):
Leucine-rich repeat-containing protein 50
Gene namesi
Name:DNAAF1
Synonyms:LRRC50
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:30539. DNAAF1.

Subcellular locationi

GO - Cellular componenti

  • axoneme Source: UniProtKB
  • cytoplasm Source: BHF-UCL
  • nucleus Source: HPA
  • plasma membrane Source: HPA
  • spindle pole Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

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
Natural variantiVAR_06309742 – 117Missing in CILD13. 1 PublicationAdd BLAST76
Natural variantiVAR_063098175L → R in CILD13. 1 PublicationCorresponds to variant rs267607227dbSNPEnsembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNETi123872.
MalaCardsiDNAAF1.
MIMi613193. phenotype.
OpenTargetsiENSG00000154099.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA142671510.

Polymorphism and mutation databases

BioMutaiDNAAF1.
DMDMi215274261.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002328891 – 725Dynein assembly factor 1, axonemalAdd BLAST725

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei358PhosphoserineBy similarity1
Modified residuei559PhosphothreonineBy similarity1
Modified residuei562PhosphoserineBy similarity1
Modified residuei583PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8NEP3.
PeptideAtlasiQ8NEP3.
PRIDEiQ8NEP3.

PTM databases

iPTMnetiQ8NEP3.
PhosphoSitePlusiQ8NEP3.

Expressioni

Tissue specificityi

Mainly expressed in trachea and testis.1 Publication

Gene expression databases

BgeeiENSG00000154099.
CleanExiHS_LRRC50.
ExpressionAtlasiQ8NEP3. baseline and differential.
GenevisibleiQ8NEP3. HS.

Organism-specific databases

HPAiHPA041166.

Interactioni

GO - Molecular functioni

  • dynein binding Source: UniProtKB

Protein-protein interaction databases

IntActiQ8NEP3. 5 interactors.
STRINGi9606.ENSP00000367815.

Structurei

3D structure databases

ProteinModelPortaliQ8NEP3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati107 – 129LRR 1Add BLAST23
Repeati130 – 151LRR 2Add BLAST22
Repeati152 – 173LRR 3Add BLAST22
Repeati174 – 195LRR 4Add BLAST22
Repeati196 – 217LRR 5Add BLAST22
Repeati221 – 242LRR 6Add BLAST22
Domaini256 – 294LRRCTAdd BLAST39

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi391 – 513Pro-richAdd BLAST123

Sequence similaritiesi

Belongs to the DNAAF1 family.Curated
Contains 6 LRR (leucine-rich) repeats.Curated
Contains 1 LRRCT domain.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiENOG410IG8N. Eukaryota.
ENOG410XQAN. LUCA.
GeneTreeiENSGT00730000110223.
HOVERGENiHBG066969.
InParanoidiQ8NEP3.
KOiK19750.
OMAiCLFLQVN.
OrthoDBiEOG091G01J2.
PhylomeDBiQ8NEP3.
TreeFamiTF315818.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR027734. DNAAF1.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
[Graphical view]
PANTHERiPTHR24365:SF315. PTHR24365:SF315. 1 hit.
PROSITEiPS51450. LRR. 6 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

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
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

Sequence cautioni

The sequence BAB71645 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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 rs267607227dbSNPEnsembl.1
Natural variantiVAR_047662387D → E.Corresponds to variant rs36062234dbSNPEnsembl.1
Natural variantiVAR_047663393K → R.3 PublicationsCorresponds to variant rs17856705dbSNPEnsembl.1
Natural variantiVAR_047664432E → D.Corresponds to variant rs9972733dbSNPEnsembl.1
Natural variantiVAR_047665502P → L.3 PublicationsCorresponds to variant rs11644164dbSNPEnsembl.1
Natural variantiVAR_047666545F → C.1 PublicationCorresponds to variant rs17856706dbSNPEnsembl.1
Natural variantiVAR_047667633L → S.2 PublicationsCorresponds to variant rs2288020dbSNPEnsembl.1
Natural variantiVAR_047668659L → P.2 PublicationsCorresponds to variant rs2288022dbSNPEnsembl.1
Natural variantiVAR_047669659L → V.Corresponds to variant rs2288021dbSNPEnsembl.1
Natural variantiVAR_047670675S → T.2 PublicationsCorresponds to variant rs2288023dbSNPEnsembl.1
Natural variantiVAR_047671703G → R.Corresponds to variant rs4150188dbSNPEnsembl.1
Natural variantiVAR_047672712P → A.Corresponds to variant rs4150187dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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

IntActiQ8NEP3. 5 interactors.
STRINGi9606.ENSP00000367815.

PTM databases

iPTMnetiQ8NEP3.
PhosphoSitePlusiQ8NEP3.

Polymorphism and mutation databases

BioMutaiDNAAF1.
DMDMi215274261.

Proteomic databases

PaxDbiQ8NEP3.
PeptideAtlasiQ8NEP3.
PRIDEiQ8NEP3.

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

CTDi123872.
DisGeNETi123872.
GeneCardsiDNAAF1.
GeneReviewsiDNAAF1.
H-InvDBHIX0013289.
HGNCiHGNC:30539. DNAAF1.
HPAiHPA041166.
MalaCardsiDNAAF1.
MIMi613190. gene.
613193. phenotype.
neXtProtiNX_Q8NEP3.
OpenTargetsiENSG00000154099.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA142671510.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IG8N. Eukaryota.
ENOG410XQAN. LUCA.
GeneTreeiENSGT00730000110223.
HOVERGENiHBG066969.
InParanoidiQ8NEP3.
KOiK19750.
OMAiCLFLQVN.
OrthoDBiEOG091G01J2.
PhylomeDBiQ8NEP3.
TreeFamiTF315818.

Miscellaneous databases

ChiTaRSiDNAAF1. human.
GeneWikiiLRRC50.
GenomeRNAii123872.
PROiQ8NEP3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000154099.
CleanExiHS_LRRC50.
ExpressionAtlasiQ8NEP3. baseline and differential.
GenevisibleiQ8NEP3. HS.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR027734. DNAAF1.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
[Graphical view]
PANTHERiPTHR24365:SF315. PTHR24365:SF315. 1 hit.
PROSITEiPS51450. LRR. 6 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDAAF1_HUMAN
AccessioniPrimary (citable) accession number: Q8NEP3
Secondary accession number(s): B4DJA3
, Q69YI8, Q69YJ0, Q69YW5, Q96LP3, Q96MB6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 18, 2006
Last sequence update: November 25, 2008
Last modified: November 30, 2016
This is version 128 of the entry and version 5 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, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: 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.