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Q9NPB0

- SMDC1_HUMAN

UniProt

Q9NPB0 - SMDC1_HUMAN

Protein

SAYSvFN domain-containing protein 1

Gene

SAYSD1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli
    • BLAST
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    • Format
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Names & Taxonomyi

    Protein namesi
    Recommended name:
    SAYSvFN domain-containing protein 1
    Gene namesi
    Name:SAYSD1
    Synonyms:C6orf64
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:21025. SAYSD1.

    Subcellular locationi

    Cytoplasmic vesicle membrane 1 Publication; Single-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. cytoplasmic vesicle membrane Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB-KW
    3. intracellular membrane-bounded organelle Source: HPA

    Keywords - Cellular componenti

    Cytoplasmic vesicle, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA128394689.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 183183SAYSvFN domain-containing protein 1PRO_0000089517Add
    BLAST

    Proteomic databases

    MaxQBiQ9NPB0.
    PaxDbiQ9NPB0.
    PRIDEiQ9NPB0.

    PTM databases

    PhosphoSiteiQ9NPB0.

    Expressioni

    Gene expression databases

    BgeeiQ9NPB0.
    CleanExiHS_C6orf64.
    GenevestigatoriQ9NPB0.

    Organism-specific databases

    HPAiHPA007959.

    Interactioni

    Protein-protein interaction databases

    BioGridi120891. 2 interactions.
    IntActiQ9NPB0. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NPB0.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei106 – 12621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi6 – 4439Ala-richAdd
    BLAST

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG248608.
    HOGENOMiHOG000044257.
    HOVERGENiHBG081100.
    InParanoidiQ9NPB0.
    OMAiFLVWKPR.
    OrthoDBiEOG7JX36V.
    PhylomeDBiQ9NPB0.
    TreeFamiTF106140.

    Family and domain databases

    InterProiIPR019387. Uncharacterised_SAYSvFN.
    [Graphical view]
    PfamiPF10260. SAYSvFN. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NPB0-1) [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

    MEQRLAEFRA ARKRAGLAAQ PPAASQGAQT PGEKAEAAAT LKAAPGWLKR    50
    FLVWKPRPAS ARAQPGLVQE AAQPQGSTSE TPWNTAIPLP SCWDQSFLTN 100
    ITFLKVLLWL VLLGLFVELE FGLAYFVLSL FYWMYVGTRG PEEKKEGEKS 150
    AYSVFNPGCE AIQGTLTAEQ LERELQLRPL AGR 183
    Length:183
    Mass (Da):20,163
    Last modified:October 1, 2000 - v1
    Checksum:i9C0B2CAB5F638A46
    GO
    Isoform 2 (identifier: Q9NPB0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-67: Missing.
         68-69: VQ → ML

    Note: No experimental confirmation available.

    Show »
    Length:116
    Mass (Da):13,092
    Checksum:i5E8379D37A27244C
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 6767Missing in isoform 2. 1 PublicationVSP_014597Add
    BLAST
    Alternative sequencei68 – 692VQ → ML in isoform 2. 1 PublicationVSP_014598

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136839 mRNA. Translation: CAB66773.1.
    AK001963 mRNA. Translation: BAA92004.1.
    AL035690 Genomic DNA. Translation: CAB71176.1.
    AL035690 Genomic DNA. Translation: CAD92546.1.
    BC022007 mRNA. Translation: AAH22007.1.
    CCDSiCCDS4840.1. [Q9NPB0-1]
    RefSeqiNP_060792.1. NM_018322.1. [Q9NPB0-1]
    XP_005249279.1. XM_005249222.1. [Q9NPB0-2]
    UniGeneiHs.58382.

    Genome annotation databases

    EnsembliENST00000229903; ENSP00000229903; ENSG00000112167. [Q9NPB0-1]
    ENST00000373249; ENSP00000362346; ENSG00000112167. [Q9NPB0-2]
    GeneIDi55776.
    KEGGihsa:55776.
    UCSCiuc003ook.1. human. [Q9NPB0-1]

    Polymorphism databases

    DMDMi68565322.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL136839 mRNA. Translation: CAB66773.1 .
    AK001963 mRNA. Translation: BAA92004.1 .
    AL035690 Genomic DNA. Translation: CAB71176.1 .
    AL035690 Genomic DNA. Translation: CAD92546.1 .
    BC022007 mRNA. Translation: AAH22007.1 .
    CCDSi CCDS4840.1. [Q9NPB0-1 ]
    RefSeqi NP_060792.1. NM_018322.1. [Q9NPB0-1 ]
    XP_005249279.1. XM_005249222.1. [Q9NPB0-2 ]
    UniGenei Hs.58382.

    3D structure databases

    ProteinModelPortali Q9NPB0.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 120891. 2 interactions.
    IntActi Q9NPB0. 1 interaction.

    PTM databases

    PhosphoSitei Q9NPB0.

    Polymorphism databases

    DMDMi 68565322.

    Proteomic databases

    MaxQBi Q9NPB0.
    PaxDbi Q9NPB0.
    PRIDEi Q9NPB0.

    Protocols and materials databases

    DNASUi 55776.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000229903 ; ENSP00000229903 ; ENSG00000112167 . [Q9NPB0-1 ]
    ENST00000373249 ; ENSP00000362346 ; ENSG00000112167 . [Q9NPB0-2 ]
    GeneIDi 55776.
    KEGGi hsa:55776.
    UCSCi uc003ook.1. human. [Q9NPB0-1 ]

    Organism-specific databases

    CTDi 55776.
    GeneCardsi GC06M039215.
    HGNCi HGNC:21025. SAYSD1.
    HPAi HPA007959.
    neXtProti NX_Q9NPB0.
    PharmGKBi PA128394689.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG248608.
    HOGENOMi HOG000044257.
    HOVERGENi HBG081100.
    InParanoidi Q9NPB0.
    OMAi FLVWKPR.
    OrthoDBi EOG7JX36V.
    PhylomeDBi Q9NPB0.
    TreeFami TF106140.

    Miscellaneous databases

    ChiTaRSi SAYSD1. human.
    GenomeRNAii 55776.
    NextBioi 60847.
    PROi Q9NPB0.

    Gene expression databases

    Bgeei Q9NPB0.
    CleanExi HS_C6orf64.
    Genevestigatori Q9NPB0.

    Family and domain databases

    InterProi IPR019387. Uncharacterised_SAYSvFN.
    [Graphical view ]
    Pfami PF10260. SAYSvFN. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Testis.
    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).
      Tissue: Placenta.
    3. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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: Testis.
    5. "Systematic validation of antibody binding and protein subcellular localization using siRNA and confocal microscopy."
      Stadler C., Hjelmare M., Neumann B., Jonasson K., Pepperkok R., Uhlen M., Lundberg E.
      J. Proteomics 75:2236-2251(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiSMDC1_HUMAN
    AccessioniPrimary (citable) accession number: Q9NPB0
    Secondary accession number(s): Q9H0D8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 5, 2005
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 99 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 6
      Human chromosome 6: entries, gene names and cross-references to MIM

    External Data

    Dasty 3