Q9UI46 (DNAI1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Dynein intermediate chain 1, axonemal

Alternative name(s):
Axonemal dynein intermediate chain 1

Gene names

Name:

DNAI1

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	699 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Part of the dynein complex of respiratory cilia.
Subunit structure	Consists of at least two heavy chains and a number of intermediate and light chains.
Subcellular location	Cytoplasm › cytoskeleton › cilium axoneme.
Involvement in disease	Primary ciliary dyskinesia 1 (CILD1) [MIM:244400]: 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. Kartagener syndrome (KTGS) [MIM:244400]: An autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera). Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4
Sequence similarities	Belongs to the dynein intermediate chain family. Contains 5 WD repeats.

Ontologies

Keywords
Biological process	Cilium biogenesis/degradation
Cellular component	Cell projection Cilium Cytoplasm Cytoskeleton Dynein Microtubule
Coding sequence diversity	Polymorphism
Disease	Ciliopathy Disease mutation Kartagener syndrome Primary ciliary dyskinesia
Domain	Repeat WD repeat
Molecular function	Motor protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell projection organization Inferred from electronic annotation. Source: UniProtKB-KW epithelial cilium movement Inferred from electronic annotation. Source: Compara
Cellular_component	cilium Traceable author statement Ref.1. Source: ProtInc cilium axoneme Inferred from electronic annotation. Source: UniProtKB-SubCell cytoskeleton Traceable author statement Ref.1. Source: ProtInc dynein complex Inferred from electronic annotation. Source: UniProtKB-KW microtubule Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	motor activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 699	699	Dynein intermediate chain 1, axonemal		PRO_0000114658
Regions
	Repeat	381 – 421	41	WD 1
	Repeat	430 – 473	44	WD 2
	Repeat	538 – 578	41	WD 3
	Repeat	580 – 620	41	WD 4
	Repeat	627 – 666	40	WD 5
Natural variations
	Natural variant	8	1	A → S. Ref.3 Ref.4 Corresponds to variant rs11547035 [ dbSNP | Ensembl ].		VAR_016774
	Natural variant	60	1	A → V. Corresponds to variant rs16931549 [ dbSNP | Ensembl ].		VAR_033876
	Natural variant	326	1	Q → H. Corresponds to variant rs16931555 [ dbSNP | Ensembl ].		VAR_033877
	Natural variant	335	1	V → I. Corresponds to variant rs11793196 [ dbSNP | Ensembl ].		VAR_033878
	Natural variant	487	1	V → G. Corresponds to variant rs11999454 [ dbSNP | Ensembl ].		VAR_033879
	Natural variant	515	1	G → S in KTGS. Ref.4		VAR_016775
Experimental info
	Sequence conflict	202	1	Y → C in AAH30583. Ref.3
	Sequence conflict	495	1	P → Q in AAH30583. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q9UI46 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: F7E2CF9D09A1F8BD	FASTA	699	79,283
	10 20 30 40 50 60 MIPASAKAPH KQPHKQSISI GRGTRKRDED SGTEVGEGTD EWAQSKATVR PPDQLELTDA 70 80 90 100 110 120 ELKEEFTRIL TANNPHAPQN IVRYSFKEGT YKPIGFVNQL AVHYTQVGNL IPKDSDEGRR 130 140 150 160 170 180 QHYRDELVAG SQESVKVISE TGNLEEDEEP KELETEPGSQ TDVPAAGAAE KVTEEELMTP 190 200 210 220 230 240 KQPKERKLTN QFNFSERASQ TYNNPVRDRE CQTEPPPRTN FSATANQWEI YDAYVEELEK 250 260 270 280 290 300 QEKTKEKEKA KTPVAKKSGK MAMRKLTSME SQTDDLIKLS QAAKIMERMV NQNTYDDIAQ 310 320 330 340 350 360 DFKYYDDAAD EYRDQVGTLL PLWKFQNDKA KRLSVTALCW NPKYRDLFAV GYGSYDFMKQ 370 380 390 400 410 420 SRGMLLLYSL KNPSFPEYMF SSNSGVMCLD IHVDHPYLVA VGHYDGNVAI YNLKKPHSQP 430 440 450 460 470 480 SFCSSAKSGK HSDPVWQVKW QKDDMDQNLN FFSVSSDGRI VSWTLVKRKL VHIDVIKLKV 490 500 510 520 530 540 EGSTTEVPEG LQLHPVGCGT AFDFHKEIDY MFLVGTEEGK IYKCSKSYSS QFLDTYDAHN 550 560 570 580 590 600 MSVDTVSWNP YHTKVFMSCS SDWTVKIWDH TIKTPMFIYD LNSAVGDVAW APYSSTVFAA 610 620 630 640 650 660 VTTDGKAHIF DLAINKYEAI CNQPVAAKKN RLTHVQFNLI HPIIIVGDDR GHIISLKLSP 670 680 690 NLRKMPKEKK GQEVQKGPAV EIAKLDKLLN LVREVKIKT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia." Pennarun G., Escudier E., Chapelin C., Bridoux A.-M., Cacheux V., Roger G., Clement A., Goossens M., Amselem S., Duriez B. Am. J. Hum. Genet. 65:1508-1519(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]. Tissue: Testis and Trachea.
[2]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(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], VARIANT SER-8. Tissue: Testis.
[4]	"Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)." Guichard C., Harricane M.-C., Lafitte J.-J., Godard P., Zaegel M., Tack V., Lalau G., Bouvagnet P. Am. J. Hum. Genet. 68:1030-1035(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SER-8, VARIANT KTGS SER-515.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF091619 mRNA. Translation: AAF18570.1. AF190496 , AF190477, AF190478, AF190479, AF190480, AF190481, AF190482, AF190483, AF190484, AF190485, AF190486, AF190487, AF190488, AF190489, AF190490, AF190491, AF190492, AF190493, AF190494, AF190495 Genomic DNA. Translation: AAF19816.1. AL160270 Genomic DNA. Translation: CAI13155.1. BC030583 mRNA. Translation: AAH30583.1.
IPI	IPI00006030.
RefSeq	NP_036276.1. NM_012144.2.
UniGene	Hs.112667.
3D structure databases
ProteinModelPortal	Q9UI46.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000242317.
PTM databases
PhosphoSite	Q9UI46.
Polymorphism databases
DMDM	12643888.
Proteomic databases
PaxDb	Q9UI46.
PRIDE	Q9UI46.
Protocols and materials databases
DNASU	27019.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000242317; ENSP00000242317; ENSG00000122735.
GeneID	27019.
KEGG	hsa:27019.
UCSC	uc003zum.3. human.
Organism-specific databases
CTD	27019.
GeneCards	GC09P034448.
HGNC	HGNC:2954. DNAI1.
HPA	HPA021649. HPA021843.
MIM	244400. phenotype. 604366. gene.
neXtProt	NX_Q9UI46.
Orphanet	244. Primary ciliary dyskinesia. 98861. Primary ciliary dyskinesia, Kartagener type.
PharmGKB	PA27407.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG145991.
HOGENOM	HOG000231705.
HOVERGEN	HBG005545.
InParanoid	Q9UI46.
KO	K10409.
OMA	AINKYEA.
OrthoDB	EOG4VDPXX.
PhylomeDB	Q9UI46.
Gene expression databases
ArrayExpress	Q9UI46.
Bgee	Q9UI46.
CleanEx	HS_DNAI1.
Genevestigator	Q9UI46.
GermOnline	ENSG00000122735. Homo sapiens.
Family and domain databases
Gene3D	2.130.10.10. 1 hit.
InterPro	IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR017986. WD40_repeat_dom. [Graphical view]
Pfam	PF00400. WD40. 1 hit. [Graphical view]
SMART	SM00320. WD40. 4 hits. [Graphical view]
SUPFAM	SSF50978. WD40_like. 1 hit.
PROSITE	PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. 1 hit. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	DNAI1. human.
GenomeRNAi	27019.
NextBio	49540.
SOURCE	Search...

Entry information

Entry name

DNAI1_HUMAN

Accession

Primary (citable) accession number: Q9UI46
Secondary accession number(s): Q5T8G7, Q8NHQ7, Q9UEZ8

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 11, 2001
Last sequence update:	May 1, 2000
Last modified:	May 1, 2013
This is version 106 of the entry and version 1 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.