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Q8TDD5

- MCLN3_HUMAN

UniProt

Q8TDD5 - MCLN3_HUMAN

Protein

Mucolipin-3

Gene

MCOLN3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 100 (01 Oct 2014)
      Sequence version 1 (01 Jun 2002)
      Previous versions | rss
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    Functioni

    GO - Biological processi

    1. auditory receptor cell differentiation Source: Ensembl
    2. calcium ion transmembrane transport Source: Reactome
    3. ion transmembrane transport Source: Reactome
    4. locomotory behavior Source: Ensembl
    5. transmembrane transport Source: Reactome

    Keywords - Molecular functioni

    Ion channel

    Keywords - Biological processi

    Ion transport, Transport

    Enzyme and pathway databases

    ReactomeiREACT_169333. TRP channels.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Mucolipin-3
    Gene namesi
    Name:MCOLN3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:13358. MCOLN3.

    Subcellular locationi

    GO - Cellular componenti

    1. cytoplasm Source: Ensembl
    2. integral component of membrane Source: UniProtKB-KW
    3. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134947324.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 553553Mucolipin-3PRO_0000215367Add
    BLAST

    Proteomic databases

    PaxDbiQ8TDD5.
    PRIDEiQ8TDD5.

    PTM databases

    PhosphoSiteiQ8TDD5.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8TDD5.
    BgeeiQ8TDD5.
    CleanExiHS_MCOLN3.
    GenevestigatoriQ8TDD5.

    Organism-specific databases

    HPAiCAB037307.
    HPA018106.

    Interactioni

    Protein-protein interaction databases

    BioGridi120571. 2 interactions.
    IntActiQ8TDD5. 1 interaction.
    STRINGi9606.ENSP00000304843.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TDD5.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei63 – 8321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei284 – 30421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei337 – 35721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei375 – 39521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei415 – 43521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei480 – 50021HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG149591.
    HOGENOMiHOG000232158.
    HOVERGENiHBG052430.
    InParanoidiQ8TDD5.
    KOiK04994.
    OMAiECFFVEP.
    OrthoDBiEOG7V1FQ9.
    PhylomeDBiQ8TDD5.
    TreeFamiTF317783.

    Family and domain databases

    InterProiIPR013122. PKD1_2_channel.
    [Graphical view]
    PfamiPF08016. PKD_channel. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8TDD5-1) [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

    MADPEVVVSS CSSHEEENRC NFNQQTSPSE ELLLEDQMRR KLKFFFMNPC    50
    EKFWARGRKP WKLAIQILKI AMVTIQLVLF GLSNQMVVAF KEENTIAFKH 100
    LFLKGYMDRM DDTYAVYTQS DVYDQLIFAV NQYLQLYNVS VGNHAYENKG 150
    TKQSAMAICQ HFYKRGNIYP GNDTFDIDPE IETECFFVEP DEPFHIGTPA 200
    ENKLNLTLDF HRLLTVELQF KLKAINLQTV RHQELPDCYD FTLTITFDNK 250
    AHSGRIKISL DNDISIRECK DWHVSGSIQK NTHYMMIFDA FVILTCLVSL 300
    ILCIRSVIRG LQLQQEFVNF FLLHYKKEVS VSDQMEFVNG WYIMIIISDI 350
    LTIIGSILKM EIQAKSLTSY DVCSILLGTS TMLVWLGVIR YLGFFAKYNL 400
    LILTLQAALP NVIRFCCCAA MIYLGYCFCG WIVLGPYHDK FRSLNMVSEC 450
    LFSLINGDDM FATFAKMQQK SYLVWLFSRI YLYSFISLFI YMILSLFIAL 500
    ITDTYETIKQ YQQDGFPETE LRTFISECKD LPNSGKYRLE DDPPVSLFCC 550
    CKK 553
    Length:553
    Mass (Da):64,248
    Last modified:June 1, 2002 - v1
    Checksum:i2E63DA196379F9E3
    GO
    Isoform 2 (identifier: Q8TDD5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         77-132: Missing.

    Show »
    Length:497
    Mass (Da):57,723
    Checksum:iB014DF953C034761
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti9 – 91S → C in BAA91951. (PubMed:14702039)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei77 – 13256Missing in isoform 2. 1 PublicationVSP_010823Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF475085 mRNA. Translation: AAL84622.1.
    AK001868 mRNA. Translation: BAA91951.1.
    AL358789 Genomic DNA. Translation: CAI14914.1.
    AL358789 Genomic DNA. Translation: CAI14913.1.
    CCDSiCCDS58009.1. [Q8TDD5-2]
    CCDS701.1. [Q8TDD5-1]
    RefSeqiNP_001240622.1. NM_001253693.1. [Q8TDD5-2]
    NP_060768.8. NM_018298.10. [Q8TDD5-1]
    XP_005271060.1. XM_005271003.1. [Q8TDD5-1]
    XP_006710813.1. XM_006710750.1. [Q8TDD5-1]
    XP_006710814.1. XM_006710751.1. [Q8TDD5-1]
    UniGeneiHs.535239.

    Genome annotation databases

    EnsembliENST00000341115; ENSP00000342698; ENSG00000055732. [Q8TDD5-2]
    ENST00000370589; ENSP00000359621; ENSG00000055732. [Q8TDD5-1]
    GeneIDi55283.
    KEGGihsa:55283.
    UCSCiuc001dkp.3. human. [Q8TDD5-1]
    uc001dkq.3. human. [Q8TDD5-2]

    Polymorphism databases

    DMDMi50401084.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF475085 mRNA. Translation: AAL84622.1 .
    AK001868 mRNA. Translation: BAA91951.1 .
    AL358789 Genomic DNA. Translation: CAI14914.1 .
    AL358789 Genomic DNA. Translation: CAI14913.1 .
    CCDSi CCDS58009.1. [Q8TDD5-2 ]
    CCDS701.1. [Q8TDD5-1 ]
    RefSeqi NP_001240622.1. NM_001253693.1. [Q8TDD5-2 ]
    NP_060768.8. NM_018298.10. [Q8TDD5-1 ]
    XP_005271060.1. XM_005271003.1. [Q8TDD5-1 ]
    XP_006710813.1. XM_006710750.1. [Q8TDD5-1 ]
    XP_006710814.1. XM_006710751.1. [Q8TDD5-1 ]
    UniGenei Hs.535239.

    3D structure databases

    ProteinModelPortali Q8TDD5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120571. 2 interactions.
    IntActi Q8TDD5. 1 interaction.
    STRINGi 9606.ENSP00000304843.

    Chemistry

    ChEMBLi CHEMBL1293243.
    GuidetoPHARMACOLOGYi 503.

    PTM databases

    PhosphoSitei Q8TDD5.

    Polymorphism databases

    DMDMi 50401084.

    Proteomic databases

    PaxDbi Q8TDD5.
    PRIDEi Q8TDD5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000341115 ; ENSP00000342698 ; ENSG00000055732 . [Q8TDD5-2 ]
    ENST00000370589 ; ENSP00000359621 ; ENSG00000055732 . [Q8TDD5-1 ]
    GeneIDi 55283.
    KEGGi hsa:55283.
    UCSCi uc001dkp.3. human. [Q8TDD5-1 ]
    uc001dkq.3. human. [Q8TDD5-2 ]

    Organism-specific databases

    CTDi 55283.
    GeneCardsi GC01M085483.
    HGNCi HGNC:13358. MCOLN3.
    HPAi CAB037307.
    HPA018106.
    MIMi 607400. gene.
    neXtProti NX_Q8TDD5.
    PharmGKBi PA134947324.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG149591.
    HOGENOMi HOG000232158.
    HOVERGENi HBG052430.
    InParanoidi Q8TDD5.
    KOi K04994.
    OMAi ECFFVEP.
    OrthoDBi EOG7V1FQ9.
    PhylomeDBi Q8TDD5.
    TreeFami TF317783.

    Enzyme and pathway databases

    Reactomei REACT_169333. TRP channels.

    Miscellaneous databases

    GeneWikii MCOLN3.
    GenomeRNAii 55283.
    NextBioi 59438.
    PROi Q8TDD5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8TDD5.
    Bgeei Q8TDD5.
    CleanExi HS_MCOLN3.
    Genevestigatori Q8TDD5.

    Family and domain databases

    InterProi IPR013122. PKD1_2_channel.
    [Graphical view ]
    Pfami PF08016. PKD_channel. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of the MCOLN3 gene."
      Falardeau J.L., Kennedy J.C., Acierno J.S. Jr., Slaugenhaupt S.A.
      Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    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 2).
      Tissue: Placenta.
    3. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

    Entry informationi

    Entry nameiMCLN3_HUMAN
    AccessioniPrimary (citable) accession number: Q8TDD5
    Secondary accession number(s): Q5T4H5, Q5T4H6, Q9NV09
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 19, 2004
    Last sequence update: June 1, 2002
    Last modified: October 1, 2014
    This is version 100 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 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3