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Q4LDG9

- DNAL1_HUMAN

UniProt

Q4LDG9 - DNAL1_HUMAN

Protein

Dynein light chain 1, axonemal

Gene

DNAL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 88 (01 Oct 2014)
      Sequence version 1 (02 Aug 2005)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Dynein light chain 1, axonemal
    Gene namesi
    Name:DNAL1
    Synonyms:C14orf168
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:23247. DNAL1.

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti150 – 1501N → S in CILD16. 1 Publication
    VAR_065739

    Keywords - Diseasei

    Ciliopathy, Disease mutation, Primary ciliary dyskinesia

    Organism-specific databases

    MIMi614017. phenotype.
    Orphaneti244. Primary ciliary dyskinesia.
    PharmGKBiPA162383938.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 190189Dynein light chain 1, axonemalPRO_0000281130Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ4LDG9.
    PaxDbiQ4LDG9.
    PeptideAtlasiQ4LDG9.
    PRIDEiQ4LDG9.

    PTM databases

    PhosphoSiteiQ4LDG9.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    ArrayExpressiQ4LDG9.
    BgeeiQ4LDG9.
    CleanExiHS_DNAL1.
    GenevestigatoriQ4LDG9.

    Organism-specific databases

    HPAiHPA053129.

    Interactioni

    Subunit structurei

    Interacts with DNAH5.1 Publication

    Protein-protein interaction databases

    BioGridi123677. 2 interactions.
    STRINGi9606.ENSP00000310360.

    Structurei

    3D structure databases

    ProteinModelPortaliQ4LDG9.
    SMRiQ4LDG9. Positions 1-190.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati49 – 7022LRR 1Add
    BLAST
    Repeati71 – 9222LRR 2Add
    BLAST
    Repeati94 – 11522LRR 3Add
    BLAST
    Repeati116 – 13722LRR 4Add
    BLAST
    Domaini150 – 19041LRRCTAdd
    BLAST

    Sequence similaritiesi

    Belongs to the dynein light chain LC1-type family.Curated
    Contains 4 LRR (leucine-rich) repeats.Curated
    Contains 1 LRRCT domain.Curated

    Keywords - Domaini

    Leucine-rich repeat, Repeat

    Phylogenomic databases

    eggNOGiCOG4886.
    HOGENOMiHOG000230603.
    HOVERGENiHBG081457.
    InParanoidiQ4LDG9.
    KOiK10411.
    OMAiKWEEKNG.
    PhylomeDBiQ4LDG9.
    TreeFamiTF323974.

    Family and domain databases

    InterProiIPR001611. Leu-rich_rpt.
    [Graphical view]
    PROSITEiPS51450. LRR. 4 hits.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q4LDG9-1) [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

    MAKATTIKEA LARWEEKTGQ RPSEAKEIKL YAQIPPIEKM DASLSMLANC    50
    EKLSLSTNCI EKIANLNGLK NLRILSLGRN NIKNLNGLEA VGDTLEELWI 100
    SYNFIEKLKG IHIMKKLKIL YMSNNLVKDW AEFVKLAELP CLEDLVFVGN 150
    PLEEKHSAEN NWIEEATKRV PKLKKLDGTP VIKGDEEEDN 190
    Length:190
    Mass (Da):21,533
    Last modified:August 2, 2005 - v1
    Checksum:iA48EA5047F6721EE
    GO
    Isoform 2 (identifier: Q4LDG9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-113: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:77
    Mass (Da):8,883
    Checksum:i7542BC929DB174F8
    GO
    Isoform 3 (identifier: Q4LDG9-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-39: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:151
    Mass (Da):17,096
    Checksum:i446438FE7E6C5911
    GO

    Sequence cautioni

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

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti150 – 1501N → S in CILD16. 1 Publication
    VAR_065739

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 113113Missing in isoform 2. 1 PublicationVSP_023982Add
    BLAST
    Alternative sequencei1 – 3939Missing in isoform 3. 1 PublicationVSP_043590Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS45134.1. [Q4LDG9-1]
    CCDS55928.1. [Q4LDG9-3]
    RefSeqiNP_001188295.1. NM_001201366.1. [Q4LDG9-3]
    NP_113615.2. NM_031427.3. [Q4LDG9-1]
    UniGeneiHs.271270.

    Genome annotation databases

    EnsembliENST00000311089; ENSP00000310360; ENSG00000119661. [Q4LDG9-2]
    ENST00000553645; ENSP00000452037; ENSG00000119661. [Q4LDG9-1]
    ENST00000554871; ENSP00000451834; ENSG00000119661. [Q4LDG9-3]
    GeneIDi83544.
    KEGGihsa:83544.
    UCSCiuc001xoq.4. human. [Q4LDG9-1]

    Polymorphism databases

    DMDMi121944344.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSi CCDS45134.1. [Q4LDG9-1 ]
    CCDS55928.1. [Q4LDG9-3 ]
    RefSeqi NP_001188295.1. NM_001201366.1. [Q4LDG9-3 ]
    NP_113615.2. NM_031427.3. [Q4LDG9-1 ]
    UniGenei Hs.271270.

    3D structure databases

    ProteinModelPortali Q4LDG9.
    SMRi Q4LDG9. Positions 1-190.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123677. 2 interactions.
    STRINGi 9606.ENSP00000310360.

    PTM databases

    PhosphoSitei Q4LDG9.

    Polymorphism databases

    DMDMi 121944344.

    Proteomic databases

    MaxQBi Q4LDG9.
    PaxDbi Q4LDG9.
    PeptideAtlasi Q4LDG9.
    PRIDEi Q4LDG9.

    Protocols and materials databases

    DNASUi 83544.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000311089 ; ENSP00000310360 ; ENSG00000119661 . [Q4LDG9-2 ]
    ENST00000553645 ; ENSP00000452037 ; ENSG00000119661 . [Q4LDG9-1 ]
    ENST00000554871 ; ENSP00000451834 ; ENSG00000119661 . [Q4LDG9-3 ]
    GeneIDi 83544.
    KEGGi hsa:83544.
    UCSCi uc001xoq.4. human. [Q4LDG9-1 ]

    Organism-specific databases

    CTDi 83544.
    GeneCardsi GC14P074111.
    GeneReviewsi DNAL1.
    HGNCi HGNC:23247. DNAL1.
    HPAi HPA053129.
    MIMi 610062. gene.
    614017. phenotype.
    neXtProti NX_Q4LDG9.
    Orphaneti 244. Primary ciliary dyskinesia.
    PharmGKBi PA162383938.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG4886.
    HOGENOMi HOG000230603.
    HOVERGENi HBG081457.
    InParanoidi Q4LDG9.
    KOi K10411.
    OMAi KWEEKNG.
    PhylomeDBi Q4LDG9.
    TreeFami TF323974.

    Miscellaneous databases

    GeneWikii DNAL1.
    GenomeRNAii 83544.
    NextBioi 72471.
    PROi Q4LDG9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q4LDG9.
    Bgeei Q4LDG9.
    CleanExi HS_DNAL1.
    Genevestigatori Q4LDG9.

    Family and domain databases

    InterProi IPR001611. Leu-rich_rpt.
    [Graphical view ]
    PROSITEi PS51450. LRR. 4 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. 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.
      , 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. 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.
      , 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. 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.

    Entry informationi

    Entry nameiDNAL1_HUMAN
    AccessioniPrimary (citable) accession number: Q4LDG9
    Secondary accession number(s): B2RD38, Q5JPB7, Q9BS43
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 20, 2007
    Last sequence update: August 2, 2005
    Last modified: October 1, 2014
    This is version 88 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 14
      Human chromosome 14: 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