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Q8TCX1

- DC2L1_HUMAN

UniProt

Q8TCX1 - DC2L1_HUMAN

Protein

Cytoplasmic dynein 2 light intermediate chain 1

Gene

DYNC2LI1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 79 (01 Oct 2014)
      Sequence version 1 (01 Jun 2002)
      Previous versions | rss
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    Functioni

    May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis By similarity.By similarity

    GO - Molecular functioni

    1. motor activity Source: UniProtKB-KW
    2. protein binding Source: IntAct

    GO - Biological processi

    1. antigen processing and presentation of exogenous peptide antigen via MHC class II Source: Reactome
    2. cilium assembly Source: Ensembl
    3. determination of left/right symmetry Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein, Motor protein

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Enzyme and pathway databases

    ReactomeiREACT_121399. MHC class II antigen presentation.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cytoplasmic dynein 2 light intermediate chain 1
    Short name:
    Dynein 2 light intermediate chain
    Gene namesi
    Name:DYNC2LI1
    Synonyms:D2LIC, LIC3
    ORF Names:CGI-60
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:24595. DYNC2LI1.

    Subcellular locationi

    Cytoplasmcytoskeletoncilium axoneme By similarity. Cytoplasm By similarity
    Note: Localizes to the apical cytoplasm.By similarity

    GO - Cellular componenti

    1. apical part of cell Source: BHF-UCL
    2. axonemal dynein complex Source: BHF-UCL
    3. axoneme Source: BHF-UCL
    4. cytosol Source: Reactome
    5. intraciliary transport particle Source: Ensembl
    6. microtubule Source: UniProtKB-KW
    7. motile primary cilium Source: BHF-UCL
    8. primary cilium Source: BHF-UCL

    Keywords - Cellular componenti

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

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142671919.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 351351Cytoplasmic dynein 2 light intermediate chain 1PRO_0000318750Add
    BLAST

    Proteomic databases

    MaxQBiQ8TCX1.
    PaxDbiQ8TCX1.
    PRIDEiQ8TCX1.

    PTM databases

    PhosphoSiteiQ8TCX1.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8TCX1.
    BgeeiQ8TCX1.
    CleanExiHS_DYNC2LI1.
    GenevestigatoriQ8TCX1.

    Interactioni

    Subunit structurei

    The cytoplasmic dynein complex 2 is probably composed by a DYNC2H1 homodimer and a number of DYNC2LI1 light intermediate chains.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    SOD1P004413EBI-8568003,EBI-990792

    Protein-protein interaction databases

    BioGridi119644. 2 interactions.
    IntActiQ8TCX1. 3 interactions.
    MINTiMINT-6784031.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TCX1.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiNOG256387.
    HOVERGENiHBG066237.
    InParanoidiQ8TCX1.
    KOiK10417.
    OMAiKLEPREN.
    OrthoDBiEOG70CR6X.
    PhylomeDBiQ8TCX1.
    TreeFamiTF314138.

    Family and domain databases

    Gene3Di3.40.50.300. 2 hits.
    InterProiIPR022780. Dynein_light_int_chain.
    IPR027417. P-loop_NTPase.
    [Graphical view]
    PfamiPF05783. DLIC. 1 hit.
    [Graphical view]
    SUPFAMiSSF52540. SSF52540. 2 hits.

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8TCX1-1) [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

    MPSETLWEIA KAEVEKRGIN GSEGDGAEIA EKFVFFIGSK NGGKTTIILR    50
    CLDRDEPPKP TLALEYTYGR RAKGHNTPKD IAHFWELGGG TSLLDLISIP 100
    ITGDTLRTFS LVLVLDLSKP NDLWPTMENL LQATKSHVDK VIMKLGKTNA 150
    KAVSEMRQKI WNNMPKDHPD HELIDPFPVP LVIIGSKYDV FQDFESEKRK 200
    VICKTLRFVA HYYGASLMFT SKSEALLLKI RGVINQLAFG IDKSKSICVD 250
    QNKPLFITAG LDSFGQIGSP PVPENDIGKL HAHSPMELWK KVYEKLFPPK 300
    SINTLKDIKD PARDPQYAEN EVDEMRIQKD LELEQYKRSS SKSWKQIELD 350
    S 351
    Length:351
    Mass (Da):39,625
    Last modified:June 1, 2002 - v1
    Checksum:iBB4BB8B528D4A99A
    GO
    Isoform 2 (identifier: Q8TCX1-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         169-169: P → PQ

    Show »
    Length:352
    Mass (Da):39,753
    Checksum:i156B9FAB4FDABAC1
    GO
    Isoform 3 (identifier: Q8TCX1-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         332-351: ELEQYKRSSSKSWKQIELDS → VLS

    Show »
    Length:334
    Mass (Da):37,500
    Checksum:iC4D1D8FF4A49656F
    GO
    Isoform 4 (identifier: Q8TCX1-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         170-201: DHELIDPFPVPLVIIGSKYDVFQDFESEKRKV → VSCCLGLLLESLVPFIVNDNITNNFFRFLCMT
         202-351: Missing.

    Show »
    Length:201
    Mass (Da):22,433
    Checksum:i88D40AFF3FB35E50
    GO
    Isoform 5 (identifier: Q8TCX1-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         108-144: TFSLVLVLDLSKPNDLWPTMENLLQATKSHVDKVIMK → SWQLSSLLPVSMNLTTPVPHINEIIHYLSFCYLFHLA
         145-351: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:144
    Mass (Da):15,997
    Checksum:i4A235A2C5B2D1F15
    GO

    Sequence cautioni

    The sequence AAD34055.1 differs from that shown. Reason: Frameshift at positions 163 and 167.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti29 – 291I → F in CAB43233. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti33 – 331F → S.2 Publications
    Corresponds to variant rs2288709 [ dbSNP | Ensembl ].
    VAR_038874
    Natural varianti58 – 581P → S.1 Publication
    Corresponds to variant rs17854966 [ dbSNP | Ensembl ].
    VAR_038875
    Natural varianti230 – 2301I → L.2 Publications
    Corresponds to variant rs11556157 [ dbSNP | Ensembl ].
    VAR_038876

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei108 – 14437TFSLV…KVIMK → SWQLSSLLPVSMNLTTPVPH INEIIHYLSFCYLFHLA in isoform 5. 1 PublicationVSP_031287Add
    BLAST
    Alternative sequencei145 – 351207Missing in isoform 5. 1 PublicationVSP_031288Add
    BLAST
    Alternative sequencei169 – 1691P → PQ in isoform 2. 1 PublicationVSP_031289
    Alternative sequencei170 – 20132DHELI…EKRKV → VSCCLGLLLESLVPFIVNDN ITNNFFRFLCMT in isoform 4. 1 PublicationVSP_031290Add
    BLAST
    Alternative sequencei202 – 351150Missing in isoform 4. 1 PublicationVSP_031291Add
    BLAST
    Alternative sequencei332 – 35120ELEQY…IELDS → VLS in isoform 3. 1 PublicationVSP_031292Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY083346 mRNA. Translation: AAL99216.1.
    AF151818 mRNA. Translation: AAD34055.1. Frameshift.
    AK223432 mRNA. Translation: BAD97152.1.
    AC011242 Genomic DNA. Translation: AAY14702.1.
    CH471053 Genomic DNA. Translation: EAX00289.1.
    CH471053 Genomic DNA. Translation: EAX00290.1.
    CH471053 Genomic DNA. Translation: EAX00291.1.
    BC006969 mRNA. Translation: AAH06969.1.
    BC016324 mRNA. Translation: AAH16324.1.
    BC040558 mRNA. Translation: AAH40558.1.
    BC058823 mRNA. Translation: AAH58823.1.
    AL050006 mRNA. Translation: CAB43233.1.
    CCDSiCCDS1813.1. [Q8TCX1-1]
    CCDS46270.1. [Q8TCX1-4]
    CCDS62903.1. [Q8TCX1-2]
    PIRiT08695.
    RefSeqiNP_001180393.1. NM_001193464.1. [Q8TCX1-2]
    NP_056337.1. NM_015522.3. [Q8TCX1-4]
    NP_057092.2. NM_016008.3. [Q8TCX1-1]
    UniGeneiHs.371597.

    Genome annotation databases

    EnsembliENST00000260605; ENSP00000260605; ENSG00000138036. [Q8TCX1-1]
    ENST00000398823; ENSP00000381804; ENSG00000138036. [Q8TCX1-5]
    ENST00000406852; ENSP00000385738; ENSG00000138036. [Q8TCX1-4]
    ENST00000605786; ENSP00000474032; ENSG00000138036. [Q8TCX1-2]
    GeneIDi51626.
    KEGGihsa:51626.
    UCSCiuc002rth.3. human. [Q8TCX1-4]
    uc002rti.3. human. [Q8TCX1-5]
    uc002rtk.3. human. [Q8TCX1-1]
    uc002rtl.3. human. [Q8TCX1-2]

    Polymorphism databases

    DMDMi74715850.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY083346 mRNA. Translation: AAL99216.1 .
    AF151818 mRNA. Translation: AAD34055.1 . Frameshift.
    AK223432 mRNA. Translation: BAD97152.1 .
    AC011242 Genomic DNA. Translation: AAY14702.1 .
    CH471053 Genomic DNA. Translation: EAX00289.1 .
    CH471053 Genomic DNA. Translation: EAX00290.1 .
    CH471053 Genomic DNA. Translation: EAX00291.1 .
    BC006969 mRNA. Translation: AAH06969.1 .
    BC016324 mRNA. Translation: AAH16324.1 .
    BC040558 mRNA. Translation: AAH40558.1 .
    BC058823 mRNA. Translation: AAH58823.1 .
    AL050006 mRNA. Translation: CAB43233.1 .
    CCDSi CCDS1813.1. [Q8TCX1-1 ]
    CCDS46270.1. [Q8TCX1-4 ]
    CCDS62903.1. [Q8TCX1-2 ]
    PIRi T08695.
    RefSeqi NP_001180393.1. NM_001193464.1. [Q8TCX1-2 ]
    NP_056337.1. NM_015522.3. [Q8TCX1-4 ]
    NP_057092.2. NM_016008.3. [Q8TCX1-1 ]
    UniGenei Hs.371597.

    3D structure databases

    ProteinModelPortali Q8TCX1.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119644. 2 interactions.
    IntActi Q8TCX1. 3 interactions.
    MINTi MINT-6784031.

    PTM databases

    PhosphoSitei Q8TCX1.

    Polymorphism databases

    DMDMi 74715850.

    Proteomic databases

    MaxQBi Q8TCX1.
    PaxDbi Q8TCX1.
    PRIDEi Q8TCX1.

    Protocols and materials databases

    DNASUi 51626.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000260605 ; ENSP00000260605 ; ENSG00000138036 . [Q8TCX1-1 ]
    ENST00000398823 ; ENSP00000381804 ; ENSG00000138036 . [Q8TCX1-5 ]
    ENST00000406852 ; ENSP00000385738 ; ENSG00000138036 . [Q8TCX1-4 ]
    ENST00000605786 ; ENSP00000474032 ; ENSG00000138036 . [Q8TCX1-2 ]
    GeneIDi 51626.
    KEGGi hsa:51626.
    UCSCi uc002rth.3. human. [Q8TCX1-4 ]
    uc002rti.3. human. [Q8TCX1-5 ]
    uc002rtk.3. human. [Q8TCX1-1 ]
    uc002rtl.3. human. [Q8TCX1-2 ]

    Organism-specific databases

    CTDi 51626.
    GeneCardsi GC02P043913.
    HGNCi HGNC:24595. DYNC2LI1.
    neXtProti NX_Q8TCX1.
    PharmGKBi PA142671919.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG256387.
    HOVERGENi HBG066237.
    InParanoidi Q8TCX1.
    KOi K10417.
    OMAi KLEPREN.
    OrthoDBi EOG70CR6X.
    PhylomeDBi Q8TCX1.
    TreeFami TF314138.

    Enzyme and pathway databases

    Reactomei REACT_121399. MHC class II antigen presentation.

    Miscellaneous databases

    ChiTaRSi DYNC2LI1. human.
    GenomeRNAii 51626.
    NextBioi 55545.
    PROi Q8TCX1.

    Gene expression databases

    ArrayExpressi Q8TCX1.
    Bgeei Q8TCX1.
    CleanExi HS_DYNC2LI1.
    Genevestigatori Q8TCX1.

    Family and domain databases

    Gene3Di 3.40.50.300. 2 hits.
    InterProi IPR022780. Dynein_light_int_chain.
    IPR027417. P-loop_NTPase.
    [Graphical view ]
    Pfami PF05783. DLIC. 1 hit.
    [Graphical view ]
    SUPFAMi SSF52540. SSF52540. 2 hits.
    ProtoNeti Search...

    Publicationsi

    1. "Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2."
      Grissom P.M., Vaisberg E.A., McIntosh J.R.
      Mol. Biol. Cell 13:817-829(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics."
      Lai C.-H., Chou C.-Y., Ch'ang L.-Y., Liu C.-S., Lin W.-C.
      Genome Res. 10:703-713(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    3. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
      Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS SER-33 AND LEU-230.
      Tissue: Testis.
    4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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] (ISOFORMS 2; 4 AND 5), VARIANT SER-58.
      Tissue: Brain, Kidney, Testis and Urinary bladder.
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 18-351 (ISOFORM 3), VARIANTS SER-33 AND LEU-230.
      Tissue: Brain.
    8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiDC2L1_HUMAN
    AccessioniPrimary (citable) accession number: Q8TCX1
    Secondary accession number(s): A8MVJ5
    , Q53F57, Q6PDB2, Q8IWA3, Q96B03, Q96J00, Q9Y370, Q9Y3S9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 26, 2008
    Last sequence update: June 1, 2002
    Last modified: October 1, 2014
    This is version 79 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 2
      Human chromosome 2: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3