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Q8N5G2

- MACOI_HUMAN

UniProt

Q8N5G2 - MACOI_HUMAN

Protein

Macoilin

Gene

TMEM57

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 89 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    Functioni

    GO - Biological processi

    1. brain development Source: Ensembl

    Protein family/group databases

    TCDBi8.A.38.1.1. the animal macoilin regulator of ion channels (macoilin) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Macoilin
    Alternative name(s):
    Transmembrane protein 57
    Gene namesi
    Name:TMEM57
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:25572. TMEM57.

    Subcellular locationi

    Nucleus membrane By similarity; Multi-pass membrane protein By similarity. Cell projectionaxon By similarity
    Note: Detected in the nucleus membrane of non-neuronal cells and in axonal outgrowths of neuronal cells.By similarity

    GO - Cellular componenti

    1. axon Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB-KW
    3. neuron projection terminus Source: BHF-UCL
    4. nuclear membrane Source: BHF-UCL
    5. nucleus Source: BHF-UCL
    6. synapse Source: BHF-UCL

    Keywords - Cellular componenti

    Cell projection, Membrane, Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142670773.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 664664MacoilinPRO_0000070266Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi324 – 3241N-linked (GlcNAc...)Sequence Analysis
    Modified residuei332 – 3321Phosphoserine3 Publications
    Glycosylationi340 – 3401N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi452 – 4521N-linked (GlcNAc...)Sequence Analysis
    Modified residuei631 – 6311Phosphoserine1 Publication
    Modified residuei634 – 6341Phosphoserine1 Publication
    Glycosylationi655 – 6551N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ8N5G2.
    PaxDbiQ8N5G2.
    PRIDEiQ8N5G2.

    PTM databases

    PhosphoSiteiQ8N5G2.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8N5G2.
    BgeeiQ8N5G2.
    CleanExiHS_TMEM57.
    GenevestigatoriQ8N5G2.

    Organism-specific databases

    HPAiHPA019680.

    Interactioni

    Protein-protein interaction databases

    BioGridi120515. 2 interactions.
    IntActiQ8N5G2. 5 interactions.
    MINTiMINT-1185124.
    STRINGi9606.ENSP00000363463.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N5G2.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei28 – 4821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei75 – 9521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei120 – 14021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei154 – 17421HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the macoilin family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG294495.
    HOGENOMiHOG000049147.
    HOVERGENiHBG059955.
    InParanoidiQ8N5G2.
    OMAiVQELHKY.
    OrthoDBiEOG7K0ZBP.
    PhylomeDBiQ8N5G2.
    TreeFamiTF324023.

    Family and domain databases

    InterProiIPR019130. Macoilin.
    [Graphical view]
    PfamiPF09726. Macoilin. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N5G2-1) [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

    MKRRNADCSK LRRPLKRNRI TEGIYGSTFL YLKFLVVWAL VLLADFVLEF    50
    RFEYLWPFWL FIRSVYDSFR YQGLAFSVFF VCVAFTSNII CLLFIPIQWL 100
    FFAASTYVWV QYVWHTERGV CLPTVSLWIL FVYIEAAIRF KDLKNFHVDL 150
    CRPFAAHCIG YPVVTLGFGF KSYVSYKMRL RKQKEVQKEN EFYMQLLQQA 200
    LPPEQQMLQK QEKEAEEAAK GLPDMDSSIL IHHNGGIPAN KKLSTTLPEI 250
    EYREKGKEKD KDAKKHNLGI NNNNILQPVD SKIQEIEYME NHINSKRLNN 300
    DLVGSTENLL KEDSCTASSK NYKNASGVVN SSPRSHSATN GSIPSSSSKN 350
    EKKQKCTSKS PSTHKDLMEN CIPNNQLSKP DALVRLEQDI KKLKADLQAS 400
    RQVEQELRSQ ISSLSSTERG IRSEMGQLRQ ENELLQNKLH NAVQMKQKDK 450
    QNISQLEKKL KAEQEARSFV EKQLMEEKKR KKLEEATAAR AVAFAAASRG 500
    ECTETLRNRI RELEAEGKKL TMDMKVKEDQ IRELELKVQE LRKYKENEKD 550
    TEVLMSALSA MQDKTQHLEN SLSAETRIKL DLFSALGDAK RQLEIAQGQI 600
    LQKDQEIKDL KQKIAEVMAV MPSITYSAAT SPLSPVSPHY SSKFVETSPS 650
    GLDPNASVYQ PLKK 664
    Length:664
    Mass (Da):76,178
    Last modified:October 1, 2002 - v1
    Checksum:iC0F16B66E13AC281
    GO
    Isoform 2 (identifier: Q8N5G2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         27-384: Missing.

    Show »
    Length:306
    Mass (Da):35,026
    Checksum:i7E4942B918C8C88A
    GO
    Isoform 3 (identifier: Q8N5G2-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         158-158: C → W
         159-385: Missing.

    Show »
    Length:437
    Mass (Da):50,791
    Checksum:i91381E4E67C52F25
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti577 – 5771R → I in BAA91786. (PubMed:14702039)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei27 – 384358Missing in isoform 2. 1 PublicationVSP_017203Add
    BLAST
    Alternative sequencei158 – 1581C → W in isoform 3. 1 PublicationVSP_017204
    Alternative sequencei159 – 385227Missing in isoform 3. 1 PublicationVSP_017205Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY845015 mRNA. Translation: AAX11913.1.
    AY845036 mRNA. Translation: AAX11934.1.
    AY845035 mRNA. Translation: AAX11933.1.
    AK001609 mRNA. Translation: BAA91786.1.
    AL031284, BX572623 Genomic DNA. Translation: CAM12861.1.
    BX572623, AL031284 Genomic DNA. Translation: CAM12862.1.
    CH471059 Genomic DNA. Translation: EAX07876.1.
    BC032427 mRNA. Translation: AAH32427.1.
    CCDSiCCDS30638.1. [Q8N5G2-1]
    CCDS60034.1. [Q8N5G2-3]
    RefSeqiNP_001269493.1. NM_001282564.1. [Q8N5G2-3]
    NP_060672.2. NM_018202.5. [Q8N5G2-1]
    UniGeneiHs.189782.

    Genome annotation databases

    EnsembliENST00000374343; ENSP00000363463; ENSG00000204178. [Q8N5G2-1]
    ENST00000399766; ENSP00000382668; ENSG00000204178. [Q8N5G2-3]
    GeneIDi55219.
    KEGGihsa:55219.
    UCSCiuc001bkk.3. human. [Q8N5G2-1]
    uc009vru.3. human. [Q8N5G2-3]
    uc009vrv.3. human. [Q8N5G2-2]

    Polymorphism databases

    DMDMi74728992.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY845015 mRNA. Translation: AAX11913.1 .
    AY845036 mRNA. Translation: AAX11934.1 .
    AY845035 mRNA. Translation: AAX11933.1 .
    AK001609 mRNA. Translation: BAA91786.1 .
    AL031284 , BX572623 Genomic DNA. Translation: CAM12861.1 .
    BX572623 , AL031284 Genomic DNA. Translation: CAM12862.1 .
    CH471059 Genomic DNA. Translation: EAX07876.1 .
    BC032427 mRNA. Translation: AAH32427.1 .
    CCDSi CCDS30638.1. [Q8N5G2-1 ]
    CCDS60034.1. [Q8N5G2-3 ]
    RefSeqi NP_001269493.1. NM_001282564.1. [Q8N5G2-3 ]
    NP_060672.2. NM_018202.5. [Q8N5G2-1 ]
    UniGenei Hs.189782.

    3D structure databases

    ProteinModelPortali Q8N5G2.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120515. 2 interactions.
    IntActi Q8N5G2. 5 interactions.
    MINTi MINT-1185124.
    STRINGi 9606.ENSP00000363463.

    Protein family/group databases

    TCDBi 8.A.38.1.1. the animal macoilin regulator of ion channels (macoilin) family.

    PTM databases

    PhosphoSitei Q8N5G2.

    Polymorphism databases

    DMDMi 74728992.

    Proteomic databases

    MaxQBi Q8N5G2.
    PaxDbi Q8N5G2.
    PRIDEi Q8N5G2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000374343 ; ENSP00000363463 ; ENSG00000204178 . [Q8N5G2-1 ]
    ENST00000399766 ; ENSP00000382668 ; ENSG00000204178 . [Q8N5G2-3 ]
    GeneIDi 55219.
    KEGGi hsa:55219.
    UCSCi uc001bkk.3. human. [Q8N5G2-1 ]
    uc009vru.3. human. [Q8N5G2-3 ]
    uc009vrv.3. human. [Q8N5G2-2 ]

    Organism-specific databases

    CTDi 55219.
    GeneCardsi GC01P025758.
    HGNCi HGNC:25572. TMEM57.
    HPAi HPA019680.
    MIMi 610301. gene.
    neXtProti NX_Q8N5G2.
    PharmGKBi PA142670773.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG294495.
    HOGENOMi HOG000049147.
    HOVERGENi HBG059955.
    InParanoidi Q8N5G2.
    OMAi VQELHKY.
    OrthoDBi EOG7K0ZBP.
    PhylomeDBi Q8N5G2.
    TreeFami TF324023.

    Miscellaneous databases

    ChiTaRSi TMEM57. human.
    GenomeRNAii 55219.
    NextBioi 59192.
    PROi Q8N5G2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8N5G2.
    Bgeei Q8N5G2.
    CleanExi HS_TMEM57.
    Genevestigatori Q8N5G2.

    Family and domain databases

    InterProi IPR019130. Macoilin.
    [Graphical view ]
    Pfami PF09726. Macoilin. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of macoilin as a novel membrane-associated coiled-coil tetraspanin protein."
      Huang C.-H., Peng J., Ye T., Chen Y.
      Submitted (DEC-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3).
    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 1).
    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].
    4. 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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-332 AND SER-631, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    8. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-332 AND SER-634, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    9. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-332, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.

    Entry informationi

    Entry nameiMACOI_HUMAN
    AccessioniPrimary (citable) accession number: Q8N5G2
    Secondary accession number(s): B1AK00
    , Q2TLX5, Q2TLX6, Q9NVG6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 7, 2006
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 89 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