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Q8N5G0

- SMI20_HUMAN

UniProt

Q8N5G0 - SMI20_HUMAN

Protein

Small integral membrane protein 20

Gene

SMIM20

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 65 (01 Oct 2014)
      Sequence version 2 (18 Mar 2008)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Small integral membrane protein 20
    Gene namesi
    Name:SMIM20
    Synonyms:C4orf52
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:37260. SMIM20.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA165663312.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 168168Small integral membrane protein 20PRO_0000326049Add
    BLAST

    Proteomic databases

    MaxQBiQ8N5G0.
    PaxDbiQ8N5G0.
    PRIDEiQ8N5G0.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8N5G0.
    BgeeiQ8N5G0.
    GenevestigatoriQ8N5G0.

    Organism-specific databases

    HPAiHPA016552.

    Interactioni

    Protein-protein interaction databases

    BioGridi133034. 4 interactions.
    IntActiQ8N5G0. 2 interactions.
    STRINGi9606.ENSP00000317556.

    Structurei

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei108 – 12821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG41173.
    HOGENOMiHOG000008570.
    InParanoidiQ8N5G0.
    OMAiSADFKGH.
    OrthoDBiEOG769ZNM.
    PhylomeDBiQ8N5G0.
    TreeFamiTF353700.

    Family and domain databases

    InterProiIPR027917. DUF4538.
    [Graphical view]
    PfamiPF15061. DUF4538. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N5G0-1) [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

    MVKEVWRVLR EEPGRRKESR QNRARGNRVQ QNSSNLNPTP APGPHSTESR    50
    GRRRAGSEAP PRPGSESLST SSERGHGPAV GNLVSESAGR SAGQGSPGPD 100
    AMSRNLRTAL IFGGFISLIG AAFYPIYFRP LMRLEEYKKE QAINRAGIVQ 150
    EDVQPPGLKV WSDPFGRK 168
    Length:168
    Mass (Da):18,403
    Last modified:March 18, 2008 - v2
    Checksum:i37A1CFA36EADEA40
    GO
    Isoform 2 (identifier: Q8N5G0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-101: Missing.

    Show »
    Length:67
    Mass (Da):7,702
    Checksum:iFCBA42B976E900AA
    GO

    Sequence cautioni

    The sequence AAH32431.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti41 – 411A → T.
    Corresponds to variant rs2305669 [ dbSNP | Ensembl ].
    VAR_039965
    Natural varianti65 – 651S → N.
    Corresponds to variant rs6448414 [ dbSNP | Ensembl ].
    VAR_039966
    Natural varianti76 – 761H → N.
    Corresponds to variant rs2305670 [ dbSNP | Ensembl ].
    VAR_039967
    Natural varianti109 – 1091A → T.
    Corresponds to variant rs4521339 [ dbSNP | Ensembl ].
    VAR_039968

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 101101Missing in isoform 2. CuratedVSP_038831Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC133961 Genomic DNA. No translation available.
    CH471069 Genomic DNA. Translation: EAW92845.1.
    BC006003 mRNA. Translation: AAH06003.1.
    BC032431 mRNA. Translation: AAH32431.1. Different initiation.
    CCDSiCCDS47038.1. [Q8N5G0-2]
    RefSeqiNP_001138904.1. NM_001145432.1. [Q8N5G0-2]
    UniGeneiHs.479386.

    Genome annotation databases

    EnsembliENST00000506197; ENSP00000427407; ENSG00000250317. [Q8N5G0-2]
    GeneIDi389203.
    KEGGihsa:389203.
    UCSCiuc003grw.4. human. [Q8N5G0-2]

    Polymorphism databases

    DMDMi172046141.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC133961 Genomic DNA. No translation available.
    CH471069 Genomic DNA. Translation: EAW92845.1 .
    BC006003 mRNA. Translation: AAH06003.1 .
    BC032431 mRNA. Translation: AAH32431.1 . Different initiation.
    CCDSi CCDS47038.1. [Q8N5G0-2 ]
    RefSeqi NP_001138904.1. NM_001145432.1. [Q8N5G0-2 ]
    UniGenei Hs.479386.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 133034. 4 interactions.
    IntActi Q8N5G0. 2 interactions.
    STRINGi 9606.ENSP00000317556.

    Polymorphism databases

    DMDMi 172046141.

    Proteomic databases

    MaxQBi Q8N5G0.
    PaxDbi Q8N5G0.
    PRIDEi Q8N5G0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000506197 ; ENSP00000427407 ; ENSG00000250317 . [Q8N5G0-2 ]
    GeneIDi 389203.
    KEGGi hsa:389203.
    UCSCi uc003grw.4. human. [Q8N5G0-2 ]

    Organism-specific databases

    CTDi 389203.
    GeneCardsi GC04P025865.
    H-InvDB HIX0031425.
    HGNCi HGNC:37260. SMIM20.
    HPAi HPA016552.
    neXtProti NX_Q8N5G0.
    PharmGKBi PA165663312.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG41173.
    HOGENOMi HOG000008570.
    InParanoidi Q8N5G0.
    OMAi SADFKGH.
    OrthoDBi EOG769ZNM.
    PhylomeDBi Q8N5G0.
    TreeFami TF353700.

    Miscellaneous databases

    GenomeRNAii 389203.
    NextBioi 102702.

    Gene expression databases

    ArrayExpressi Q8N5G0.
    Bgeei Q8N5G0.
    Genevestigatori Q8N5G0.

    Family and domain databases

    InterProi IPR027917. DUF4538.
    [Graphical view ]
    Pfami PF15061. DUF4538. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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].
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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] OF 66-168 (ISOFORMS 1/2).
      Tissue: Skeletal muscle and Testis.
    4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiSMI20_HUMAN
    AccessioniPrimary (citable) accession number: Q8N5G0
    Secondary accession number(s): C9JYT8, Q9BRT5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 18, 2008
    Last sequence update: March 18, 2008
    Last modified: October 1, 2014
    This is version 65 of the entry and version 2 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 4
      Human chromosome 4: 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

    External Data

    Dasty 3