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Q6P2H8

- TMM53_HUMAN

UniProt

Q6P2H8 - TMM53_HUMAN

Protein

Transmembrane protein 53

Gene

TMEM53

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 86 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transmembrane protein 53
    Gene namesi
    Name:TMEM53
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:26186. TMEM53.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. nucleus Source: UniProt

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA142670769.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 277277Transmembrane protein 53PRO_0000284118Add
    BLAST

    Proteomic databases

    PaxDbiQ6P2H8.
    PRIDEiQ6P2H8.

    PTM databases

    PhosphoSiteiQ6P2H8.

    Expressioni

    Gene expression databases

    ArrayExpressiQ6P2H8.
    BgeeiQ6P2H8.
    CleanExiHS_TMEM53.
    GenevestigatoriQ6P2H8.

    Organism-specific databases

    HPAiHPA021134.

    Interactioni

    Protein-protein interaction databases

    BioGridi122767. 2 interactions.
    STRINGi9606.ENSP00000361311.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6P2H8.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei171 – 19121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the TMEM53 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG241561.
    HOGENOMiHOG000230532.
    HOVERGENiHBG056173.
    InParanoidiQ6P2H8.
    OMAiLYPLTKY.
    PhylomeDBiQ6P2H8.
    TreeFamiTF313176.

    Family and domain databases

    Gene3Di3.40.50.1820. 2 hits.
    InterProiIPR029058. AB_hydrolase.
    IPR008547. DUF829_TMEM53.
    [Graphical view]
    PANTHERiPTHR12265. PTHR12265. 1 hit.
    PfamiPF05705. DUF829. 1 hit.
    [Graphical view]
    SUPFAMiSSF53474. SSF53474. 2 hits.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q6P2H8-1) [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

    MASAELDYTI EIPDQPCWSQ KNSPSPGGKE AETRQPVVIL LGWGGCKDKN    50
    LAKYSAIYHK RGCIVIRYTA PWHMVFFSES LGIPSLRVLA QKLLELLFDY 100
    EIEKEPLLFH VFSNGGVMLY RYVLELLQTR RFCRLRVVGT IFDSAPGDSN 150
    LVGALRALAA ILERRAAMLR LLLLVAFALV VVLFHVLLAP ITALFHTHFY 200
    DRLQDAGSRW PELYLYSRAD EVVLARDIER MVEARLARRV LARSVDFVSS 250
    AHVSHLRDYP TYYTSLCVDF MRNCVRC 277
    Length:277
    Mass (Da):31,630
    Last modified:July 5, 2004 - v1
    Checksum:i487C46C92F78629E
    GO
    Isoform 2 (identifier: Q6P2H8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-73: Missing.

    Show »
    Length:204
    Mass (Da):23,473
    Checksum:iFCF38205BC00451C
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti177 – 1771F → L in BAB15317. (PubMed:14702039)Curated
    Sequence conflicti184 – 1841F → L in CAG33629. 1 PublicationCurated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 7373Missing in isoform 2. 2 PublicationsVSP_024446Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK026006 mRNA. Translation: BAB15317.1.
    AK296548 mRNA. Translation: BAG59172.1.
    CR457348 mRNA. Translation: CAG33629.1.
    AL832539 mRNA. Translation: CAI46125.1.
    AL122004 Genomic DNA. Translation: CAI22342.1.
    CH471059 Genomic DNA. Translation: EAX07029.1.
    BC064520 mRNA. Translation: AAH64520.1.
    CCDSiCCDS511.1. [Q6P2H8-1]
    RefSeqiNP_078863.2. NM_024587.2. [Q6P2H8-1]
    XP_005271253.1. XM_005271196.2. [Q6P2H8-2]
    UniGeneiHs.22157.

    Genome annotation databases

    EnsembliENST00000372237; ENSP00000361311; ENSG00000126106. [Q6P2H8-1]
    GeneIDi79639.
    KEGGihsa:79639.
    UCSCiuc001cmc.3. human. [Q6P2H8-1]

    Polymorphism databases

    DMDMi74758243.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK026006 mRNA. Translation: BAB15317.1 .
    AK296548 mRNA. Translation: BAG59172.1 .
    CR457348 mRNA. Translation: CAG33629.1 .
    AL832539 mRNA. Translation: CAI46125.1 .
    AL122004 Genomic DNA. Translation: CAI22342.1 .
    CH471059 Genomic DNA. Translation: EAX07029.1 .
    BC064520 mRNA. Translation: AAH64520.1 .
    CCDSi CCDS511.1. [Q6P2H8-1 ]
    RefSeqi NP_078863.2. NM_024587.2. [Q6P2H8-1 ]
    XP_005271253.1. XM_005271196.2. [Q6P2H8-2 ]
    UniGenei Hs.22157.

    3D structure databases

    ProteinModelPortali Q6P2H8.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122767. 2 interactions.
    STRINGi 9606.ENSP00000361311.

    PTM databases

    PhosphoSitei Q6P2H8.

    Polymorphism databases

    DMDMi 74758243.

    Proteomic databases

    PaxDbi Q6P2H8.
    PRIDEi Q6P2H8.

    Protocols and materials databases

    DNASUi 79639.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000372237 ; ENSP00000361311 ; ENSG00000126106 . [Q6P2H8-1 ]
    GeneIDi 79639.
    KEGGi hsa:79639.
    UCSCi uc001cmc.3. human. [Q6P2H8-1 ]

    Organism-specific databases

    CTDi 79639.
    GeneCardsi GC01M045100.
    HGNCi HGNC:26186. TMEM53.
    HPAi HPA021134.
    neXtProti NX_Q6P2H8.
    PharmGKBi PA142670769.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG241561.
    HOGENOMi HOG000230532.
    HOVERGENi HBG056173.
    InParanoidi Q6P2H8.
    OMAi LYPLTKY.
    PhylomeDBi Q6P2H8.
    TreeFami TF313176.

    Miscellaneous databases

    GenomeRNAii 79639.
    NextBioi 68757.
    PROi Q6P2H8.

    Gene expression databases

    ArrayExpressi Q6P2H8.
    Bgeei Q6P2H8.
    CleanExi HS_TMEM53.
    Genevestigatori Q6P2H8.

    Family and domain databases

    Gene3Di 3.40.50.1820. 2 hits.
    InterProi IPR029058. AB_hydrolase.
    IPR008547. DUF829_TMEM53.
    [Graphical view ]
    PANTHERi PTHR12265. PTHR12265. 1 hit.
    Pfami PF05705. DUF829. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53474. SSF53474. 2 hits.
    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORMS 1 AND 2).
      Tissue: Kidney epithelium and Thalamus.
    2. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Brain.
    4. "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].
    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] (ISOFORM 1).
      Tissue: Eye.

    Entry informationi

    Entry nameiTMM53_HUMAN
    AccessioniPrimary (citable) accession number: Q6P2H8
    Secondary accession number(s): B4DKG0
    , Q5JPH2, Q6IA07, Q9H6E2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 17, 2007
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 86 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3