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Q9H7V2

- SYNG1_HUMAN

UniProt

Q9H7V2 - SYNG1_HUMAN

Protein

Synapse differentiation-inducing gene protein 1

Gene

SYNDIG1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 96 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    May regulate AMPA receptor content at nascent synapses, and have a role in postsynaptic development and maturation.By similarity

    GO - Molecular functioni

    1. glutamate receptor binding Source: UniProtKB
    2. protein homodimerization activity Source: UniProtKB

    GO - Biological processi

    1. intracellular protein transport Source: UniProtKB
    2. positive regulation of synapse assembly Source: UniProtKB
    3. response to biotic stimulus Source: InterPro
    4. synaptic vesicle clustering Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Synapse differentiation-inducing gene protein 1
    Short name:
    SynDIG1
    Alternative name(s):
    Dispanin subfamily C member 2
    Short name:
    DSPC2
    Transmembrane protein 90B
    Gene namesi
    Name:SYNDIG1
    Synonyms:C20orf39, TMEM90B
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:15885. SYNDIG1.

    Subcellular locationi

    Cell membrane; Single-pass type II membrane protein. Early endosome membrane By similarity; Single-pass type II membrane protein By similarity. Cell junctionsynapsepostsynaptic cell membranepostsynaptic density By similarity. Cell junctionsynapse By similarity. Cell projectiondendrite By similarity. Cell projectiondendritic spine By similarity
    Note: Shuttles between the cell surface and early endosome membrane.By similarity

    GO - Cellular componenti

    1. cell body Source: UniProtKB
    2. cell junction Source: UniProtKB-KW
    3. dendritic shaft Source: UniProtKB
    4. dendritic spine Source: UniProtKB
    5. early endosome membrane Source: UniProtKB
    6. excitatory synapse Source: UniProtKB
    7. integral component of plasma membrane Source: UniProtKB
    8. postsynaptic density Source: UniProtKB
    9. postsynaptic membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Cell projection, Endosome, Membrane, Postsynaptic cell membrane, Synapse

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25752.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 258258Synapse differentiation-inducing gene protein 1PRO_0000135696Add
    BLAST

    Proteomic databases

    PaxDbiQ9H7V2.
    PRIDEiQ9H7V2.

    PTM databases

    PhosphoSiteiQ9H7V2.

    Expressioni

    Gene expression databases

    BgeeiQ9H7V2.
    CleanExiHS_C20orf39.
    GenevestigatoriQ9H7V2.

    Organism-specific databases

    HPAiHPA059267.

    Interactioni

    Subunit structurei

    Homodimer. Interacts with GRIA1 and GRIA2 By similarity.By similarity

    Protein-protein interaction databases

    IntActiQ9H7V2. 1 interaction.
    MINTiMINT-1378766.
    STRINGi9606.ENSP00000366058.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H7V2.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 181181CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini203 – 22826ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini250 – 2589ExtracellularSequence Analysis

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei229 – 24921HelicalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei182 – 20221HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi151 – 1555Poly-Glu

    Sequence similaritiesi

    Belongs to the CD225/Dispanin family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG41838.
    HOVERGENiHBG051163.
    InParanoidiQ9H7V2.
    OMAiNFMAESR.
    OrthoDBiEOG7P5T2F.
    PhylomeDBiQ9H7V2.
    TreeFamiTF331357.

    Family and domain databases

    InterProiIPR007593. CD225/Dispanin_fam.
    [Graphical view]
    PfamiPF04505. Dispanin. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9H7V2-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDGIIEQKSM LVHSKISDAG KRNGLINTRN LMAESRDGLV SVYPAPQYQS    50
    HRVGASTVPA SLDSSRSEPM QQLLDPNTLQ QSVESRYRPN IILYSEGVLR 100
    SWGDGVAADC CETTFIEDRS PTKDSLEYPD GKFIDLSADD IKIHTLSYDV 150
    EEEEEFQELE SDYSSDTESE DNFLMMPPRD HLGLSVFSML CCFWPLGIAA 200
    FYLSHETNKA VAKGDLHQAS TSSRRALFLA VLSITIGTGV YVGVAVALIA 250
    YLSKNNHL 258
    Length:258
    Mass (Da):28,551
    Last modified:March 1, 2001 - v1
    Checksum:i89EDF1AE382246A2
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti54 – 541G → R.
    Corresponds to variant rs6083553 [ dbSNP | Ensembl ].
    VAR_053733

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK024282 mRNA. Translation: BAB14872.1.
    CR457325 mRNA. Translation: CAG33606.1.
    AL049594, AL157413 Genomic DNA. Translation: CAI23040.1.
    AL157413, AL049594 Genomic DNA. Translation: CAI15132.1.
    BC030637 mRNA. Translation: AAH30637.1.
    CCDSiCCDS13164.1.
    RefSeqiNP_079169.1. NM_024893.2.
    XP_006723689.1. XM_006723626.1.
    XP_006723690.1. XM_006723627.1.
    UniGeneiHs.124638.

    Genome annotation databases

    EnsembliENST00000376862; ENSP00000366058; ENSG00000101463.
    GeneIDi79953.
    KEGGihsa:79953.
    UCSCiuc002wtw.1. human.

    Polymorphism databases

    DMDMi23813901.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK024282 mRNA. Translation: BAB14872.1 .
    CR457325 mRNA. Translation: CAG33606.1 .
    AL049594 , AL157413 Genomic DNA. Translation: CAI23040.1 .
    AL157413 , AL049594 Genomic DNA. Translation: CAI15132.1 .
    BC030637 mRNA. Translation: AAH30637.1 .
    CCDSi CCDS13164.1.
    RefSeqi NP_079169.1. NM_024893.2.
    XP_006723689.1. XM_006723626.1.
    XP_006723690.1. XM_006723627.1.
    UniGenei Hs.124638.

    3D structure databases

    ProteinModelPortali Q9H7V2.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q9H7V2. 1 interaction.
    MINTi MINT-1378766.
    STRINGi 9606.ENSP00000366058.

    PTM databases

    PhosphoSitei Q9H7V2.

    Polymorphism databases

    DMDMi 23813901.

    Proteomic databases

    PaxDbi Q9H7V2.
    PRIDEi Q9H7V2.

    Protocols and materials databases

    DNASUi 79953.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000376862 ; ENSP00000366058 ; ENSG00000101463 .
    GeneIDi 79953.
    KEGGi hsa:79953.
    UCSCi uc002wtw.1. human.

    Organism-specific databases

    CTDi 79953.
    GeneCardsi GC20P024451.
    HGNCi HGNC:15885. SYNDIG1.
    HPAi HPA059267.
    MIMi 614311. gene.
    neXtProti NX_Q9H7V2.
    PharmGKBi PA25752.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG41838.
    HOVERGENi HBG051163.
    InParanoidi Q9H7V2.
    OMAi NFMAESR.
    OrthoDBi EOG7P5T2F.
    PhylomeDBi Q9H7V2.
    TreeFami TF331357.

    Miscellaneous databases

    GenomeRNAii 79953.
    NextBioi 69921.
    PROi Q9H7V2.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9H7V2.
    CleanExi HS_C20orf39.
    Genevestigatori Q9H7V2.

    Family and domain databases

    InterProi IPR007593. CD225/Dispanin_fam.
    [Graphical view ]
    Pfami PF04505. Dispanin. 1 hit.
    [Graphical view ]
    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].
    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].
    3. "The DNA sequence and comparative analysis of human chromosome 20."
      Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
      , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
      Nature 414:865-871(2001) [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].
      Tissue: Hippocampus.
    5. "The dispanins: a novel gene family of ancient origin that contains 14 human members."
      Sallman Almen M., Bringeland N., Fredriksson R., Schioth H.B.
      PLoS ONE 7:E31961-E31961(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: GENE FAMILY.

    Entry informationi

    Entry nameiSYNG1_HUMAN
    AccessioniPrimary (citable) accession number: Q9H7V2
    Secondary accession number(s): Q6IA30, Q9H514
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 10, 2002
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 96 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 20
      Human chromosome 20: 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
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3