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Q9GZS0

- DNAI2_HUMAN

UniProt

Q9GZS0 - DNAI2_HUMAN

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Protein

Dynein intermediate chain 2, axonemal

Gene

DNAI2

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. microtubule motor activity Source: MGI

GO - Biological processi

  1. cilium assembly Source: MGI
  2. metabolic process Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Motor protein

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

SignaLinkiQ9GZS0.

Names & Taxonomyi

Protein namesi
Recommended name:
Dynein intermediate chain 2, axonemal
Alternative name(s):
Axonemal dynein intermediate chain 2
Gene namesi
Name:DNAI2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:18744. DNAI2.

Subcellular locationi

Cytoplasmcytoskeletoncilium axoneme By similarity

GO - Cellular componenti

  1. axonemal dynein complex Source: MGI
  2. axoneme Source: MGI
  3. 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, 9 (CILD9) [MIM:612444]: 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Ciliopathy, Primary ciliary dyskinesia

Organism-specific databases

MIMi612444. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA38669.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 605605Dynein intermediate chain 2, axonemalPRO_0000114659Add
BLAST

Proteomic databases

PaxDbiQ9GZS0.
PRIDEiQ9GZS0.

PTM databases

PhosphoSiteiQ9GZS0.

Expressioni

Tissue specificityi

Highly expressed in trachea and testis.

Gene expression databases

BgeeiQ9GZS0.
CleanExiHS_DNAI2.
ExpressionAtlasiQ9GZS0. baseline and differential.
GenevestigatoriQ9GZS0.

Organism-specific databases

HPAiCAB006245.

Interactioni

Subunit structurei

Consists of at least two heavy chains and a number of intermediate and light chains. Interacts with DNAAF2 By similarity.By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000308312.

Structurei

3D structure databases

ProteinModelPortaliQ9GZS0.
SMRiQ9GZS0. Positions 195-249.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati160 – 21152WD 1Add
BLAST
Repeati214 – 25441WD 2Add
BLAST
Repeati261 – 30242WD 3Add
BLAST
Repeati362 – 40140WD 4Add
BLAST
Repeati405 – 44541WD 5Add
BLAST

Sequence similaritiesi

Belongs to the dynein intermediate chain family.Curated
Contains 5 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiNOG284872.
GeneTreeiENSGT00740000115518.
HOGENOMiHOG000259651.
HOVERGENiHBG013035.
InParanoidiQ9GZS0.
KOiK11143.
OrthoDBiEOG70GMF5.
PhylomeDBiQ9GZS0.
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. 5 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9GZS0-1) [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
MEIVYVYVKK RSEFGKQCNF SDRQAELNID IMPNPELAEQ FVERNPVDTG
60 70 80 90 100
IQCSISMSEH EANSERFEME TRGVNHVEGG WPKDVNPLEL EQTIRFRKKV
110 120 130 140 150
EKDENYVNAI MQLGSIMEHC IKQNNAIDIY EEYFNDEEAM EVMEEDPSAK
160 170 180 190 200
TINVFRDPQE IKRAATHLSW HPDGNRKLAV AYSCLDFQRA PVGMSSDSYI
210 220 230 240 250
WDLENPNKPE LALKPSSPLV TLEFNPKDSH VLLGGCYNGQ IACWDTRKGS
260 270 280 290 300
LVAELSTIES SHRDPVYGTI WLQSKTGTEC FSASTDGQVM WWDIRKMSEP
310 320 330 340 350
TEVVILDITK KEQLENALGA ISLEFESTLP TKFMVGTEQG IVISCNRKAK
360 370 380 390 400
TSAEKIVCTF PGHHGPIYAL QRNPFYPKNF LTVGDWTARI WSEDSRESSI
410 420 430 440 450
MWTKYHMAYL TDAAWSPVRP TVFFTTRMDG TLDIWDFMFE QCDPTLSLKV
460 470 480 490 500
CDEALFCLRV QDNGCLIACG SQLGTTTLLE VSPGLSTLQR NEKNVASSMF
510 520 530 540 550
ERETRREKIL EARHREMRLK EKGKAEGRDE EQTDEELAVD LEALVSKAEE
560 570 580 590 600
EFFDIIFAEL KKKEADAIKL TPVPQQPSPE EDQVVEEGEE AAGEEGDEEV

EEDLA
Length:605
Mass (Da):68,821
Last modified:November 2, 2010 - v2
Checksum:iACD0CB1D7FBB64EA
GO
Isoform 2 (identifier: Q9GZS0-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     450-461: Missing.

Show »
Length:593
Mass (Da):67,444
Checksum:i61A7B96CC3DD1324
GO

Sequence cautioni

The sequence CAB70790.1 differs from that shown. Reason: Intron retention.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti70 – 701E → K in CAC17464. 1 PublicationCurated
Sequence conflicti593 – 5931G → E in CAC17464. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti495 – 4951V → I.
Corresponds to variant rs28725418 [ dbSNP | Ensembl ].
VAR_061140
Natural varianti558 – 5581A → T.5 Publications
Corresponds to variant rs1979370 [ dbSNP | Ensembl ].
VAR_033880

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei450 – 46112Missing in isoform 2. 1 PublicationVSP_036541Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF250288 mRNA. Translation: AAG38489.1.
AF253097
, AF253087, AF253088, AF253089, AF260782, AF253090, AF253091, AF253092, AF253093, AF253094, AF253095, AF253096 Genomic DNA. Translation: AAG38000.1.
AJ295276 mRNA. Translation: CAC17464.1.
AC103809 Genomic DNA. No translation available.
CH471099 Genomic DNA. Translation: EAW89146.1.
BC039582 mRNA. Translation: AAH39582.1.
AL137526 mRNA. Translation: CAB70790.1. Sequence problems.
CCDSiCCDS11697.1. [Q9GZS0-1]
CCDS58589.1. [Q9GZS0-2]
PIRiT46370.
RefSeqiNP_001166281.1. NM_001172810.1. [Q9GZS0-2]
NP_075462.3. NM_023036.4. [Q9GZS0-1]
XP_005257635.1. XM_005257578.1. [Q9GZS0-1]
UniGeneiHs.147472.

Genome annotation databases

EnsembliENST00000311014; ENSP00000308312; ENSG00000171595. [Q9GZS0-1]
ENST00000446837; ENSP00000400252; ENSG00000171595. [Q9GZS0-1]
ENST00000582036; ENSP00000461950; ENSG00000171595. [Q9GZS0-2]
GeneIDi64446.
KEGGihsa:64446.
UCSCiuc002jkf.3. human. [Q9GZS0-1]
uc002jkg.3. human. [Q9GZS0-2]

Polymorphism databases

DMDMi311033373.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF250288 mRNA. Translation: AAG38489.1 .
AF253097
, AF253087 , AF253088 , AF253089 , AF260782 , AF253090 , AF253091 , AF253092 , AF253093 , AF253094 , AF253095 , AF253096 Genomic DNA. Translation: AAG38000.1 .
AJ295276 mRNA. Translation: CAC17464.1 .
AC103809 Genomic DNA. No translation available.
CH471099 Genomic DNA. Translation: EAW89146.1 .
BC039582 mRNA. Translation: AAH39582.1 .
AL137526 mRNA. Translation: CAB70790.1 . Sequence problems.
CCDSi CCDS11697.1. [Q9GZS0-1 ]
CCDS58589.1. [Q9GZS0-2 ]
PIRi T46370.
RefSeqi NP_001166281.1. NM_001172810.1. [Q9GZS0-2 ]
NP_075462.3. NM_023036.4. [Q9GZS0-1 ]
XP_005257635.1. XM_005257578.1. [Q9GZS0-1 ]
UniGenei Hs.147472.

3D structure databases

ProteinModelPortali Q9GZS0.
SMRi Q9GZS0. Positions 195-249.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000308312.

PTM databases

PhosphoSitei Q9GZS0.

Polymorphism databases

DMDMi 311033373.

Proteomic databases

PaxDbi Q9GZS0.
PRIDEi Q9GZS0.

Protocols and materials databases

DNASUi 64446.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000311014 ; ENSP00000308312 ; ENSG00000171595 . [Q9GZS0-1 ]
ENST00000446837 ; ENSP00000400252 ; ENSG00000171595 . [Q9GZS0-1 ]
ENST00000582036 ; ENSP00000461950 ; ENSG00000171595 . [Q9GZS0-2 ]
GeneIDi 64446.
KEGGi hsa:64446.
UCSCi uc002jkf.3. human. [Q9GZS0-1 ]
uc002jkg.3. human. [Q9GZS0-2 ]

Organism-specific databases

CTDi 64446.
GeneCardsi GC17P072292.
GeneReviewsi DNAI2.
H-InvDB HIX0027346.
HIX0202470.
HGNCi HGNC:18744. DNAI2.
HPAi CAB006245.
MIMi 605483. gene.
612444. phenotype.
neXtProti NX_Q9GZS0.
Orphaneti 244. Primary ciliary dyskinesia.
PharmGKBi PA38669.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG284872.
GeneTreei ENSGT00740000115518.
HOGENOMi HOG000259651.
HOVERGENi HBG013035.
InParanoidi Q9GZS0.
KOi K11143.
OrthoDBi EOG70GMF5.
PhylomeDBi Q9GZS0.
TreeFami TF300553.

Enzyme and pathway databases

SignaLinki Q9GZS0.

Miscellaneous databases

GeneWikii DNAI2.
GenomeRNAii 64446.
NextBioi 66463.
PROi Q9GZS0.
SOURCEi Search...

Gene expression databases

Bgeei Q9GZS0.
CleanExi HS_DNAI2.
ExpressionAtlasi Q9GZS0. baseline and differential.
Genevestigatori Q9GZS0.

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. 5 hits.
[Graphical view ]
SUPFAMi SSF50978. SSF50978. 1 hit.
PROSITEi PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia."
    Pennarun G., Chapelin C., Escudier E., Bridoux A.-M., Dastot F., Cacheux V., Goossens M., Amselem S., Duriez B.
    Hum. Genet. 107:642-649(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANT THR-558.
    Tissue: Testis.
  2. "No deleterious mutations were found in three genes (HFH4, LC8, DNAI2) on human chromosome 17q in patients with primary ciliary dyskinesia."
    Bartoloni L., Mitchison H., Pazour G.J., Meeks M., Chung E., Dickert B.L., Spiden S., Gehrig C., Rossier C., DeLozier-Blanchet C.D., Blouin J.-L., Witman G.B., Gardiner R.M., Antonarakis S.E.
    Eur. J. Hum. Genet. 8:126-126(2000)
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT THR-558.
    Tissue: Testis.
  3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT THR-558.
  5. "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] (ISOFORM 2), VARIANT THR-558.
    Tissue: Brain.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 330-605, VARIANT THR-558.
    Tissue: Testis.
  7. Cited for: INVOLVEMENT IN CILD9.

Entry informationi

Entry nameiDNAI2_HUMAN
AccessioniPrimary (citable) accession number: Q9GZS0
Secondary accession number(s): C9J0S6
, Q8IUW4, Q9H179, Q9NT53
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: November 2, 2010
Last modified: October 29, 2014
This is version 119 of the entry and version 2 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 17
    Human chromosome 17: 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