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Q9UI46

- DNAI1_HUMAN

UniProt

Q9UI46 - DNAI1_HUMAN

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Protein
Dynein intermediate chain 1, axonemal
Gene
DNAI1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Part of the dynein complex of respiratory cilia.

GO - Molecular functioni

  1. motor activity Source: ProtInc
  2. protein binding Source: UniProtKB

GO - Biological processi

  1. cell projection organization Source: UniProtKB-KW
  2. epithelial cilium movement Source: Ensembl
  3. metabolic process Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Motor protein

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

SignaLinkiQ9UI46.

Names & Taxonomyi

Protein namesi
Recommended name:
Dynein intermediate chain 1, axonemal
Alternative name(s):
Axonemal dynein intermediate chain 1
Gene namesi
Name:DNAI1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:2954. DNAI1.

Subcellular locationi

GO - Cellular componenti

  1. cilium Source: ProtInc
  2. cytoplasm Source: UniProtKB-KW
  3. cytoskeleton Source: ProtInc
  4. dynein complex Source: UniProtKB-KW
  5. microtubule Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Dynein, Microtubule

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti515 – 5151G → S in KTGS. 1 Publication
VAR_016775

Keywords - Diseasei

Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

MIMi244400. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA27407.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 699699Dynein intermediate chain 1, axonemal
PRO_0000114658Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei131 – 1311Phosphoserine1 Publication
Modified residuei134 – 1341Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9UI46.
PRIDEiQ9UI46.

PTM databases

PhosphoSiteiQ9UI46.

Expressioni

Gene expression databases

ArrayExpressiQ9UI46.
BgeeiQ9UI46.
CleanExiHS_DNAI1.
GenevestigatoriQ9UI46.

Organism-specific databases

HPAiHPA021649.
HPA021843.

Interactioni

Subunit structurei

Consists of at least two heavy chains and a number of intermediate and light chains. Interacts with BICD2.1 Publication

Protein-protein interaction databases

BioGridi117957. 1 interaction.
STRINGi9606.ENSP00000242317.

Structurei

3D structure databases

ProteinModelPortaliQ9UI46.
SMRiQ9UI46. Positions 333-613.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati381 – 42141WD 1
Add
BLAST
Repeati430 – 47344WD 2
Add
BLAST
Repeati538 – 57841WD 3
Add
BLAST
Repeati580 – 62041WD 4
Add
BLAST
Repeati627 – 66640WD 5
Add
BLAST

Sequence similaritiesi

Contains 5 WD repeats.

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiNOG145991.
HOGENOMiHOG000231705.
HOVERGENiHBG005545.
InParanoidiQ9UI46.
KOiK10409.
OMAiYEAICNQ.
OrthoDBiEOG751NDV.
PhylomeDBiQ9UI46.
TreeFamiTF300553.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 4 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9UI46-1 [UniParc]FASTAAdd to Basket

« Hide

MIPASAKAPH KQPHKQSISI GRGTRKRDED SGTEVGEGTD EWAQSKATVR    50
PPDQLELTDA ELKEEFTRIL TANNPHAPQN IVRYSFKEGT YKPIGFVNQL 100
AVHYTQVGNL IPKDSDEGRR QHYRDELVAG SQESVKVISE TGNLEEDEEP 150
KELETEPGSQ TDVPAAGAAE KVTEEELMTP KQPKERKLTN QFNFSERASQ 200
TYNNPVRDRE CQTEPPPRTN FSATANQWEI YDAYVEELEK QEKTKEKEKA 250
KTPVAKKSGK MAMRKLTSME SQTDDLIKLS QAAKIMERMV NQNTYDDIAQ 300
DFKYYDDAAD EYRDQVGTLL PLWKFQNDKA KRLSVTALCW NPKYRDLFAV 350
GYGSYDFMKQ SRGMLLLYSL KNPSFPEYMF SSNSGVMCLD IHVDHPYLVA 400
VGHYDGNVAI YNLKKPHSQP SFCSSAKSGK HSDPVWQVKW QKDDMDQNLN 450
FFSVSSDGRI VSWTLVKRKL VHIDVIKLKV EGSTTEVPEG LQLHPVGCGT 500
AFDFHKEIDY MFLVGTEEGK IYKCSKSYSS QFLDTYDAHN MSVDTVSWNP 550
YHTKVFMSCS SDWTVKIWDH TIKTPMFIYD LNSAVGDVAW APYSSTVFAA 600
VTTDGKAHIF DLAINKYEAI CNQPVAAKKN RLTHVQFNLI HPIIIVGDDR 650
GHIISLKLSP NLRKMPKEKK GQEVQKGPAV EIAKLDKLLN LVREVKIKT 699
Length:699
Mass (Da):79,283
Last modified:May 1, 2000 - v1
Checksum:iF7E2CF9D09A1F8BD
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81A → S.2 Publications
Corresponds to variant rs11547035 [ dbSNP | Ensembl ].
VAR_016774
Natural varianti60 – 601A → V.
Corresponds to variant rs16931549 [ dbSNP | Ensembl ].
VAR_033876
Natural varianti326 – 3261Q → H.
Corresponds to variant rs16931555 [ dbSNP | Ensembl ].
VAR_033877
Natural varianti335 – 3351V → I.
Corresponds to variant rs11793196 [ dbSNP | Ensembl ].
VAR_033878
Natural varianti487 – 4871V → G.
Corresponds to variant rs11999454 [ dbSNP | Ensembl ].
VAR_033879
Natural varianti515 – 5151G → S in KTGS. 1 Publication
VAR_016775

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti202 – 2021Y → C in AAH30583. 1 Publication
Sequence conflicti495 – 4951P → Q in AAH30583. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS6557.1.
RefSeqiNP_001268357.1. NM_001281428.1.
NP_036276.1. NM_012144.3.
UniGeneiHs.112667.

Genome annotation databases

EnsembliENST00000242317; ENSP00000242317; ENSG00000122735.
GeneIDi27019.
KEGGihsa:27019.
UCSCiuc003zum.3. human.

Polymorphism databases

DMDMi12643888.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS6557.1.
RefSeqi NP_001268357.1. NM_001281428.1.
NP_036276.1. NM_012144.3.
UniGenei Hs.112667.

3D structure databases

ProteinModelPortali Q9UI46.
SMRi Q9UI46. Positions 333-613.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117957. 1 interaction.
STRINGi 9606.ENSP00000242317.

PTM databases

PhosphoSitei Q9UI46.

Polymorphism databases

DMDMi 12643888.

Proteomic databases

PaxDbi Q9UI46.
PRIDEi Q9UI46.

Protocols and materials databases

DNASUi 27019.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000242317 ; ENSP00000242317 ; ENSG00000122735 .
GeneIDi 27019.
KEGGi hsa:27019.
UCSCi uc003zum.3. human.

Organism-specific databases

CTDi 27019.
GeneCardsi GC09P034448.
GeneReviewsi DNAI1.
HGNCi HGNC:2954. DNAI1.
HPAi HPA021649.
HPA021843.
MIMi 244400. phenotype.
604366. gene.
neXtProti NX_Q9UI46.
Orphaneti 244. Primary ciliary dyskinesia.
PharmGKBi PA27407.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG145991.
HOGENOMi HOG000231705.
HOVERGENi HBG005545.
InParanoidi Q9UI46.
KOi K10409.
OMAi YEAICNQ.
OrthoDBi EOG751NDV.
PhylomeDBi Q9UI46.
TreeFami TF300553.

Enzyme and pathway databases

SignaLinki Q9UI46.

Miscellaneous databases

ChiTaRSi DNAI1. human.
GeneWikii DNAI1.
GenomeRNAii 27019.
NextBioi 49540.
PROi Q9UI46.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9UI46.
Bgeei Q9UI46.
CleanExi HS_DNAI1.
Genevestigatori Q9UI46.

Family and domain databases

Gene3Di 2.130.10.10. 1 hit.
InterProi IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view ]
Pfami PF00400. WD40. 1 hit.
[Graphical view ]
SMARTi SM00320. WD40. 4 hits.
[Graphical view ]
SUPFAMi SSF50978. SSF50978. 1 hit.
PROSITEi PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. "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.

Entry informationi

Entry nameiDNAI1_HUMAN
AccessioniPrimary (citable) accession number: Q9UI46
Secondary accession number(s): Q5T8G7, Q8NHQ7, Q9UEZ8
Entry historyi
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 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 9
    Human chromosome 9: 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

External Data

Dasty 3

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