Q8N9W5 (DAAF3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Dynein assembly factor 3, axonemal

Gene names

Name:	DNAAF3
Synonyms:	C19orf51

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	541 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Required for the assembly of axonemal inner and outer dynein arms. Involved in preassembly of dyneins into complexes before their transport into cilia. Ref.4
Subcellular location	Cytoplasm By similarity.
Involvement in disease	Primary ciliary dyskinesia 2 (CILD2) [MIM:606763]: A 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4
Sequence similarities	Belongs to the DNAAF3 family.
Sequence caution	The sequence AAH63449.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS. The sequence BAC04177.1 differs from that shown. Reason: Probable cloning artifact.

Ontologies

Keywords
Biological process	Cilium biogenesis/degradation
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Ciliopathy Disease mutation Primary ciliary dyskinesia
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	axonemal dynein complex assembly Inferred from mutant phenotype Ref.4. Source: UniProtKB motile cilium assembly Inferred from mutant phenotype Ref.4. Source: UniProtKB
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8N9W5-1)

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.

Isoform 2 (identifier: Q8N9W5-5)

The sequence of this isoform differs from the canonical sequence as follows:
     77-95: FFVLENNLEAVARHMLIFS → VSWDEDESPDSRVLEGGRD
     96-541: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoform 3 (identifier: Q8N9W5-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MLPLLDSSKRAGTLGSGCGVPRVHSAALSREEGASRDIWRIKVWARVM
     29-29: S → RDATVDALPTTMVPQPAVILPG
     350-350: Missing.

Note: No experimental confirmation available.

Isoform 4 (identifier: Q8N9W5-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MLPLLDSSKRAGTLGSGCGVPRVHSAALSREEGASRDIWRIKVWARVM

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 541	541	Dynein assembly factor 3, axonemal		PRO_0000297580
Natural variations
	Alternative sequence	1	1	M → MLPLLDSSKRAGTLGSGCGV PRVHSAALSREEGASRDIWR IKVWARVM in isoform 3 and isoform 4.		VSP_042976
	Alternative sequence	29	1	S → RDATVDALPTTMVPQPAVIL PG in isoform 3.		VSP_039966
	Alternative sequence	77 – 95	19	FFVLE…MLIFS → VSWDEDESPDSRVLEGGRD in isoform 2.		VSP_039967
	Alternative sequence	96 – 541	446	Missing in isoform 2.		VSP_039968
	Alternative sequence	350	1	Missing in isoform 3.		VSP_039969
	Natural variant	61	1	L → P in CILD2. Ref.4		VAR_067300
	Natural variant	278	1	A → T. Ref.4		VAR_067301
	Natural variant	292	1	E → G. Corresponds to variant rs2365725 [ dbSNP | Ensembl ].		VAR_055306
	Natural variant	331	1	G → W. Corresponds to variant rs7508641 [ dbSNP | Ensembl ].		VAR_055307
	Natural variant	365	1	D → N. Ref.1 Ref.3 Corresponds to variant rs890872 [ dbSNP | Ensembl ].		VAR_055308

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 5, 2009. Version 3. Checksum: 0F0461F0F97D6F07	FASTA	541	59,411
	10 20 30 40 50 60 MTTPAGSGSG FGSVSWWGLS PALDLQAESP PVDPDSQADT VHSNPELDVL LLGSVDGRHL 70 80 90 100 110 120 LRTLSRAKFW PRRRFNFFVL ENNLEAVARH MLIFSLALEE PEKMGLQERS ETFLEVWGNA 130 140 150 160 170 180 LLRPPVAAFV RAQADLLAHL VPEPDRLEEQ LPWLSLRALK FRERDALEAV FRFWAGGEKG 190 200 210 220 230 240 PQAFPMSRLW DSRLRHYLGS RYDARRGVSD WDLRMKLHDR GAQVIHPQEF RRWRDTGVAF 250 260 270 280 290 300 ELRDSSAYHV PNRTLASGRL LSYRGERVAA RGYWGDIATG PFVAFGIEAD DESLLRTSNG 310 320 330 340 350 360 QPVKTAGEIT QHNVTELLRD VAAWGRARAT GGDLEEQQHA EGSPEPGTPA APTPESFTVH 370 380 390 400 410 420 FLPLDSAQTL HHKSCYNGRF QLLYVACGMV HLLIPELGAC VAPGGNLIVE LARYLVDVRQ 430 440 450 460 470 480 EQLQGFNTRV RELAQAAGFA PQTGARPSET FARFCKSQES ALGNTVPAVE PGTPPLDILA 490 500 510 520 530 540 QPLEASNPAL EGLTQPLQGG TPHCEPCQLP SESPGSLSEV LAQPQGALAP PNCESDSKTG V
	Isoform 2 [UniParc]. Checksum: 0F7AA25AC080E9F5	FASTA	95	10,389
	10 20 30 40 50 60 MTTPAGSGSG FGSVSWWGLS PALDLQAESP PVDPDSQADT VHSNPELDVL LLGSVDGRHL 70 80 90 LRTLSRAKFW PRRRFNVSWD EDESPDSRVL EGGRD
	Isoform 3 [UniParc]. Checksum: 4B2C6BF46712069C	FASTA	608	66,570
	10 20 30 40 50 60 MLPLLDSSKR AGTLGSGCGV PRVHSAALSR EEGASRDIWR IKVWARVMTT PAGSGSGFGS 70 80 90 100 110 120 VSWWGLSPAL DLQAERDATV DALPTTMVPQ PAVILPGPPV DPDSQADTVH SNPELDVLLL 130 140 150 160 170 180 GSVDGRHLLR TLSRAKFWPR RRFNFFVLEN NLEAVARHML IFSLALEEPE KMGLQERSET 190 200 210 220 230 240 FLEVWGNALL RPPVAAFVRA QADLLAHLVP EPDRLEEQLP WLSLRALKFR ERDALEAVFR 250 260 270 280 290 300 FWAGGEKGPQ AFPMSRLWDS RLRHYLGSRY DARRGVSDWD LRMKLHDRGA QVIHPQEFRR 310 320 330 340 350 360 WRDTGVAFEL RDSSAYHVPN RTLASGRLLS YRGERVAARG YWGDIATGPF VAFGIEADDE 370 380 390 400 410 420 SLLRTSNGQP VKTAGEITQH NVTELLRDVA AWGRARATGG DLEEQQHAEG SPEPGTPAPT 430 440 450 460 470 480 PESFTVHFLP LDSAQTLHHK SCYNGRFQLL YVACGMVHLL IPELGACVAP GGNLIVELAR 490 500 510 520 530 540 YLVDVRQEQL QGFNTRVREL AQAAGFAPQT GARPSETFAR FCKSQESALG NTVPAVEPGT 550 560 570 580 590 600 PPLDILAQPL EASNPALEGL TQPLQGGTPH CEPCQLPSES PGSLSEVLAQ PQGALAPPNC ESDSKTGV
	Isoform 4 [UniParc]. Checksum: AE94AB27E08B6C75	FASTA	588	64,484
	10 20 30 40 50 60 MLPLLDSSKR AGTLGSGCGV PRVHSAALSR EEGASRDIWR IKVWARVMTT PAGSGSGFGS 70 80 90 100 110 120 VSWWGLSPAL DLQAESPPVD PDSQADTVHS NPELDVLLLG SVDGRHLLRT LSRAKFWPRR 130 140 150 160 170 180 RFNFFVLENN LEAVARHMLI FSLALEEPEK MGLQERSETF LEVWGNALLR PPVAAFVRAQ 190 200 210 220 230 240 ADLLAHLVPE PDRLEEQLPW LSLRALKFRE RDALEAVFRF WAGGEKGPQA FPMSRLWDSR 250 260 270 280 290 300 LRHYLGSRYD ARRGVSDWDL RMKLHDRGAQ VIHPQEFRRW RDTGVAFELR DSSAYHVPNR 310 320 330 340 350 360 TLASGRLLSY RGERVAARGY WGDIATGPFV AFGIEADDES LLRTSNGQPV KTAGEITQHN 370 380 390 400 410 420 VTELLRDVAA WGRARATGGD LEEQQHAEGS PEPGTPAAPT PESFTVHFLP LDSAQTLHHK 430 440 450 460 470 480 SCYNGRFQLL YVACGMVHLL IPELGACVAP GGNLIVELAR YLVDVRQEQL QGFNTRVREL 490 500 510 520 530 540 AQAAGFAPQT GARPSETFAR FCKSQESALG NTVPAVEPGT PPLDILAQPL EASNPALEGL 550 560 570 580 TQPLQGGTPH CEPCQLPSES PGSLSEVLAQ PQGALAPPNC ESDSKTGV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT ASN-365. Tissue: Testis.
[2]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT ASN-365. Tissue: Brain and Pancreas.
[4]	"Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia." Mitchison H.M., Schmidts M., Loges N.T., Freshour J., Dritsoula A., Hirst R.A., O'Callaghan C., Blau H., Al Dabbagh M., Olbrich H., Beales P.L., Yagi T., Mussaffi H., Chung E.M., Omran H., Mitchell D.R. Nat. Genet. 0:0-0(2012) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CILD2 PRO-61, VARIANT THR-278, FUNCTION.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK093458 mRNA. Translation: BAC04172.1. AK093473 mRNA. Translation: BAC04177.1. Sequence problems. AK097388 mRNA. Translation: BAC05029.1. AC010327 Genomic DNA. No translation available. BC016843 mRNA. Translation: AAH16843.1. BC063449 mRNA. Translation: AAH63449.1. Sequence problems.
IPI	IPI00167830. IPI00550238. IPI00971028.
RefSeq	NP_001243643.1. NM_001256714.1. NP_001243644.1. NM_001256715.1. NP_001243645.1. NM_001256716.1. NP_849159.2. NM_178837.4.
UniGene	Hs.351582.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000375600.
PTM databases
PhosphoSite	Q8N9W5.
Polymorphism databases
DMDM	229462985.
Proteomic databases
PaxDb	Q8N9W5.
PRIDE	Q8N9W5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000391719; ENSP00000375599; ENSG00000167646. ENST00000391720; ENSP00000375600; ENSG00000167646. ENST00000524407; ENSP00000432046; ENSG00000167646. ENST00000527223; ENSP00000436975; ENSG00000167646. ENST00000528412; ENSP00000433826; ENSG00000167646. ENST00000534214; ENSP00000433247; ENSG00000167646.
GeneID	352909.
KEGG	hsa:352909.
UCSC	uc002qjh.1. human.
Organism-specific databases
CTD	352909.
GeneCards	GC19M055671.
HGNC	HGNC:30492. DNAAF3.
HPA	HPA042118.
MIM	606763. phenotype. 614566. gene.
neXtProt	NX_Q8N9W5.
Orphanet	244. Primary ciliary dyskinesia.
PharmGKB	PA147358371.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG85125.
HOGENOM	HOG000060295.
HOVERGEN	HBG107764.
OMA	TFARFYK.
Gene expression databases
ArrayExpress	Q8N9W5.
Bgee	Q8N9W5.
CleanEx	HS_C19orf51.
Genevestigator	Q8N9W5.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	352909.
NextBio	99561.
SOURCE	Search...

Entry information

Entry name

DAAF3_HUMAN

Accession

Primary (citable) accession number: Q8N9W5
Secondary accession number(s): A8MUY0 , E9PAX5, Q6P4F6, Q8N9W0, Q96AR2

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 21, 2007
Last sequence update:	May 5, 2009
Last modified:	May 1, 2013
This is version 72 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.