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Q9UI46 (DNAI1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 118. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Dynein intermediate chain 1, axonemal
Alternative name(s):
Axonemal dynein intermediate chain 1
Gene names
Name:DNAI1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length699 AA.
Sequence statusComplete.
Protein existenceEvidence 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. Interacts with BICD2. Ref.5

Subcellular location

Cytoplasmcytoskeletoncilium axoneme.

Involvement in disease

Ciliary dyskinesia, primary, 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.6

Sequence similarities

Belongs to the dynein intermediate chain family.

Contains 5 WD repeats.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 699699Dynein intermediate chain 1, axonemal
PRO_0000114658

Regions

Repeat381 – 42141WD 1
Repeat430 – 47344WD 2
Repeat538 – 57841WD 3
Repeat580 – 62041WD 4
Repeat627 – 66640WD 5

Amino acid modifications

Modified residue1311Phosphoserine Ref.4
Modified residue1341Phosphoserine Ref.4

Natural variations

Natural variant81A → S. Ref.3 Ref.6
Corresponds to variant rs11547035 [ dbSNP | Ensembl ].
VAR_016774
Natural variant601A → V.
Corresponds to variant rs16931549 [ dbSNP | Ensembl ].
VAR_033876
Natural variant3261Q → H.
Corresponds to variant rs16931555 [ dbSNP | Ensembl ].
VAR_033877
Natural variant3351V → I.
Corresponds to variant rs11793196 [ dbSNP | Ensembl ].
VAR_033878
Natural variant4871V → G.
Corresponds to variant rs11999454 [ dbSNP | Ensembl ].
VAR_033879
Natural variant5151G → S in KTGS. Ref.6
VAR_016775

Experimental info

Sequence conflict2021Y → C in AAH30583. Ref.3
Sequence conflict4951P → Q in AAH30583. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q9UI46 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: F7E2CF9D09A1F8BD

FASTA69979,283
        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 

« Hide

References

« Hide '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. expand/collapse author list , 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]"Phosphoproteome analysis of capacitated human sperm. Evidence of tyrosine phosphorylation of a kinase-anchoring protein 3 and valosin-containing protein/p97 during capacitation."
Ficarro S., Chertihin O., Westbrook V.A., White F., Jayes F., Kalab P., Marto J.A., Shabanowitz J., Herr J.C., Hunt D.F., Visconti P.E.
J. Biol. Chem. 278:11579-11589(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-131 AND SER-134, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Sperm.
[5]"Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance."
Peeters K., Litvinenko I., Asselbergh B., Almeida-Souza L., Chamova T., Geuens T., Ydens E., Zimon M., Irobi J., De Vriendt E., De Winter V., Ooms T., Timmerman V., Tournev I., Jordanova A.
Am. J. Hum. Genet. 92:955-964(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH BICD2.
[6]"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.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF091619 mRNA. Translation: AAF18570.1.
AF190496 expand/collapse EMBL AC list , 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.
CCDSCCDS6557.1.
RefSeqNP_001268357.1. NM_001281428.1.
NP_036276.1. NM_012144.3.
UniGeneHs.112667.

3D structure databases

ProteinModelPortalQ9UI46.
SMRQ9UI46. Positions 333-613.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid117957. 1 interaction.
STRING9606.ENSP00000242317.

PTM databases

PhosphoSiteQ9UI46.

Polymorphism databases

DMDM12643888.

Proteomic databases

PaxDbQ9UI46.
PRIDEQ9UI46.

Protocols and materials databases

DNASU27019.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000242317; ENSP00000242317; ENSG00000122735.
GeneID27019.
KEGGhsa:27019.
UCSCuc003zum.3. human.

Organism-specific databases

CTD27019.
GeneCardsGC09P034448.
GeneReviewsDNAI1.
HGNCHGNC:2954. DNAI1.
HPAHPA021649.
HPA021843.
MIM244400. phenotype.
604366. gene.
neXtProtNX_Q9UI46.
Orphanet244. Primary ciliary dyskinesia.
PharmGKBPA27407.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG145991.
HOGENOMHOG000231705.
HOVERGENHBG005545.
InParanoidQ9UI46.
KOK10409.
OMAYEAICNQ.
OrthoDBEOG751NDV.
PhylomeDBQ9UI46.
TreeFamTF300553.

Enzyme and pathway databases

SignaLinkQ9UI46.

Gene expression databases

ArrayExpressQ9UI46.
BgeeQ9UI46.
CleanExHS_DNAI1.
GenevestigatorQ9UI46.

Family and domain databases

Gene3D2.130.10.10. 1 hit.
InterProIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamPF00400. WD40. 1 hit.
[Graphical view]
SMARTSM00320. WD40. 4 hits.
[Graphical view]
SUPFAMSSF50978. SSF50978. 1 hit.
PROSITEPS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSDNAI1. human.
GeneWikiDNAI1.
GenomeRNAi27019.
NextBio49540.
PROQ9UI46.
SOURCESearch...

Entry information

Entry nameDNAI1_HUMAN
AccessionPrimary (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: July 9, 2014
This is version 118 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM