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Q4LDG9 (DNAL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 85. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Dynein light chain 1, axonemal
Gene names
Name:DNAL1
Synonyms:C14orf168
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length190 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Interacts with DNAH5. Ref.1

Tissue specificity

Expressed in tissues carrying motile cilia such as testis. Ref.1

Involvement in disease

Ciliary dyskinesia, primary, 16 (CILD16) [MIM:614017]: 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.7

Sequence similarities

Belongs to the dynein light chain LC1-type family.

Contains 4 LRR (leucine-rich) repeats.

Contains 1 LRRCT domain.

Sequence caution

The sequence AAH05343.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
   DiseaseCiliopathy
Disease mutation
Primary ciliary dyskinesia
   DomainLeucine-rich repeat
Repeat
   PTMAcetylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q4LDG9-1)

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: Q4LDG9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-113: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q4LDG9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-39: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.6
Chain2 – 190189Dynein light chain 1, axonemal
PRO_0000281130

Regions

Repeat49 – 7022LRR 1
Repeat71 – 9222LRR 2
Repeat94 – 11522LRR 3
Repeat116 – 13722LRR 4
Domain150 – 19041LRRCT

Amino acid modifications

Modified residue21N-acetylalanine Ref.6

Natural variations

Alternative sequence1 – 113113Missing in isoform 2.
VSP_023982
Alternative sequence1 – 3939Missing in isoform 3.
VSP_043590
Natural variant1501N → S in CILD16. Ref.7
VAR_065739

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified August 2, 2005. Version 1.
Checksum: A48EA5047F6721EE

FASTA19021,533
        10         20         30         40         50         60 
MAKATTIKEA LARWEEKTGQ RPSEAKEIKL YAQIPPIEKM DASLSMLANC EKLSLSTNCI 

        70         80         90        100        110        120 
EKIANLNGLK NLRILSLGRN NIKNLNGLEA VGDTLEELWI SYNFIEKLKG IHIMKKLKIL 

       130        140        150        160        170        180 
YMSNNLVKDW AEFVKLAELP CLEDLVFVGN PLEEKHSAEN NWIEEATKRV PKLKKLDGTP 

       190 
VIKGDEEEDN 

« Hide

Isoform 2 [UniParc].

Checksum: 7542BC929DB174F8
Show »

FASTA778,883
Isoform 3 [UniParc].

Checksum: 446438FE7E6C5911
Show »

FASTA15117,096

References

« Hide 'large scale' references
[1]"Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients."
Horvath J., Fliegauf M., Olbrich H., Kispert A., King S.M., Mitchison H., Zariwala M.A., Knowles M.R., Sudbrak R., Fekete G., Neesen J., Reinhardt R., Omran H.
Am. J. Respir. Cell Mol. Biol. 33:41-47(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH DNAH5, TISSUE SPECIFICITY.
[2]"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. expand/collapse author list , 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] (ISOFORM 3).
Tissue: Hippocampus.
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Lymph node.
[4]"The DNA sequence and analysis of human chromosome 14."
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. expand/collapse author list , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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 1).
Tissue: Brain.
[6]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
[7]"Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1."
Mazor M., Alkrinawi S., Chalifa-Caspi V., Manor E., Sheffield V.C., Aviram M., Parvari R.
Am. J. Hum. Genet. 88:599-607(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CILD16 SER-150.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF542071 mRNA. Translation: AAQ11377.1.
AK315392 mRNA. Translation: BAG37785.1.
AL833654 mRNA. Translation: CAI46147.1.
AC005225 Genomic DNA. No translation available.
AC006146 Genomic DNA. No translation available.
BC005343 mRNA. Translation: AAH05343.1. Different initiation.
RefSeqNP_001188295.1. NM_001201366.1.
NP_113615.2. NM_031427.3.
UniGeneHs.271270.

3D structure databases

ProteinModelPortalQ4LDG9.
SMRQ4LDG9. Positions 1-190.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123677. 1 interaction.
STRING9606.ENSP00000310360.

PTM databases

PhosphoSiteQ4LDG9.

Polymorphism databases

DMDM121944344.

Proteomic databases

PaxDbQ4LDG9.
PeptideAtlasQ4LDG9.
PRIDEQ4LDG9.

Protocols and materials databases

DNASU83544.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000311089; ENSP00000310360; ENSG00000119661. [Q4LDG9-2]
ENST00000540526; ENSP00000439695; ENSG00000119661. [Q4LDG9-3]
ENST00000553645; ENSP00000452037; ENSG00000119661. [Q4LDG9-1]
ENST00000554871; ENSP00000451834; ENSG00000119661. [Q4LDG9-3]
GeneID83544.
KEGGhsa:83544.
UCSCuc001xoq.4. human. [Q4LDG9-1]

Organism-specific databases

CTD83544.
GeneCardsGC14P074111.
HGNCHGNC:23247. DNAL1.
HPAHPA053129.
MIM610062. gene.
614017. phenotype.
neXtProtNX_Q4LDG9.
Orphanet244. Primary ciliary dyskinesia.
PharmGKBPA162383938.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG4886.
HOGENOMHOG000230603.
HOVERGENHBG081457.
InParanoidQ4LDG9.
KOK10411.
OMALSTLVNC.
PhylomeDBQ4LDG9.
TreeFamTF323974.

Gene expression databases

ArrayExpressQ4LDG9.
BgeeQ4LDG9.
CleanExHS_DNAL1.
GenevestigatorQ4LDG9.

Family and domain databases

InterProIPR001611. Leu-rich_rpt.
[Graphical view]
PROSITEPS51450. LRR. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiDNAL1.
GenomeRNAi83544.
NextBio72471.
PROQ4LDG9.
SOURCESearch...

Entry information

Entry nameDNAL1_HUMAN
AccessionPrimary (citable) accession number: Q4LDG9
Secondary accession number(s): B2RD38, Q5JPB7, Q9BS43
Entry history
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: August 2, 2005
Last modified: April 16, 2014
This is version 85 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 14

Human chromosome 14: entries, gene names and cross-references to MIM