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Q9H7C4

- SYNCI_HUMAN

UniProt

Q9H7C4 - SYNCI_HUMAN

Protein

Syncoilin

Gene

SYNC

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 88 (01 Oct 2014)
      Sequence version 3 (13 Jul 2010)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. structural molecule activity Source: InterPro

    GO - Biological processi

    1. intermediate filament-based process Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Syncoilin
    Alternative name(s):
    Syncoilin intermediate filament 1
    Syncoilin-1
    Gene namesi
    Name:SYNC
    Synonyms:SYNC1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:28897. SYNC.

    Subcellular locationi

    Cytoplasmperinuclear region By similarity
    Note: In skeletal muscle, colocalizes with DES and DTNA, and is localized at the myotendinous and neuromuscular junctions, sarcolemma and Z-lines. In myotubes, detected in a punctate cytoplasmic pattern By similarity.By similarity

    GO - Cellular componenti

    1. cytosol Source: Ensembl
    2. intermediate filament Source: UniProtKB-KW
    3. neuromuscular junction Source: Ensembl
    4. perinuclear region of cytoplasm Source: UniProtKB-SubCell
    5. sarcolemma Source: Ensembl
    6. Z disc Source: Ensembl

    Keywords - Cellular componenti

    Cytoplasm, Intermediate filament

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA164726395.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 482482SyncoilinPRO_0000306180Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei325 – 3251Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9H7C4.
    PaxDbiQ9H7C4.
    PRIDEiQ9H7C4.

    PTM databases

    PhosphoSiteiQ9H7C4.

    Expressioni

    Inductioni

    Up-regulated at the sarcolemma in individuals with various forms of neuromuscular disease.1 Publication

    Gene expression databases

    ArrayExpressiQ9H7C4.
    BgeeiQ9H7C4.
    CleanExiHS_SYNC.
    GenevestigatoriQ9H7C4.

    Organism-specific databases

    HPAiHPA028311.

    Interactioni

    Subunit structurei

    Interacts with DES and DTNA.By similarity

    Protein-protein interaction databases

    BioGridi123502. 1 interaction.
    STRINGi9606.ENSP00000386439.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H7C4.
    SMRiQ9H7C4. Positions 169-293, 317-458.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 161161HeadAdd
    BLAST
    Regioni162 – 1698Rod
    Regioni170 – 20435Coil 1AAdd
    BLAST
    Regioni205 – 23127Linker 1Add
    BLAST
    Regioni232 – 30978Coil 1bAdd
    BLAST
    Regioni310 – 34940Linker 2Add
    BLAST
    Regioni350 – 458109Coil 2Add
    BLAST
    Regioni459 – 48224TailAdd
    BLAST

    Sequence similaritiesi

    Belongs to the intermediate filament family.Sequence Analysis

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG79532.
    HOGENOMiHOG000010275.
    HOVERGENiHBG108528.
    InParanoidiQ9H7C4.
    KOiK10377.
    OMAiECVAYQY.
    OrthoDBiEOG7MH102.
    PhylomeDBiQ9H7C4.

    Family and domain databases

    InterProiIPR001664. IF.
    IPR027702. Syncoilin.
    [Graphical view]
    PANTHERiPTHR23239. PTHR23239. 1 hit.
    PTHR23239:SF100. PTHR23239:SF100. 1 hit.
    PfamiPF00038. Filament. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9H7C4-1) [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

    MASPEPRRGG DGAAQAARKT RVEANSPLPK NSGSLNEAEA LNPEVTLSSE    50
    GSLNLEDILY LEDTGDLDET LYVQETEKAE EALYIEEAMQ PDEALHVEEP 100
    GNPEETVCVE ETTEPDRIQF VEGPVEPGKP TSPEHVVYEG ETVTRAEKSN 150
    PEESLRAEQS PSMEENLSIE DLELLEGRFQ QCVQAVAQLE EERDQLIHEL 200
    VLLREPALQE VQQVHQDILA AYKLHAQAEL ERDGLREEIR LVKQKLFKVT 250
    KECVAYQYQL ECRQQDVAQF ADFREVLTTR ATQLSEELAQ LRDAYQKQKE 300
    QLRQQLEAPP SQRDGHFLQE SRRLSAQFEN LMAESRQDLE EEYEPQFLRL 350
    LERKEAGTKA LQRTQAEIQE MKEALRPLQA EARQLRLQNR NLEDQIALVR 400
    QKRDEEVQQY REQLEEMEER QRQLRNGVQL QQQKNKEMEQ LRLSLAEELS 450
    TYKAMLLPKS LEQADAPTSQ AGGMETQSQG AV 482
    Length:482
    Mass (Da):55,299
    Last modified:July 13, 2010 - v3
    Checksum:i969F2DA9C48C858B
    GO
    Isoform 2 (identifier: Q9H7C4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         454-482: AMLLPKSLEQADAPTSQAGGMETQSQGAV → GCLEIYGQICNPETAKNFLAKDH

    Show »
    Length:476
    Mass (Da):54,947
    Checksum:i2B3ADA20445CCE58
    GO

    Sequence cautioni

    The sequence AAI19701.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence AAI19702.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAB14970.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti58 – 581I → T in BAG60270. (PubMed:14702039)Curated
    Sequence conflicti163 – 1631M → V in BAG63620. (PubMed:14702039)Curated
    Sequence conflicti163 – 1631M → V in BAG60270. (PubMed:14702039)Curated
    Sequence conflicti274 – 2741R → Q in BAG63620. (PubMed:14702039)Curated
    Sequence conflicti274 – 2741R → Q in BAG60270. (PubMed:14702039)Curated
    Sequence conflicti328 – 3281F → S in BAG60270. (PubMed:14702039)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei454 – 48229AMLLP…SQGAV → GCLEIYGQICNPETAKNFLA KDH in isoform 2. 1 PublicationVSP_039404Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK024707 mRNA. Translation: BAB14970.1. Different initiation.
    AK297958 mRNA. Translation: BAG60270.1.
    AK302275 mRNA. Translation: BAG63620.1.
    AC114489 Genomic DNA. No translation available.
    BC119700 mRNA. Translation: AAI19701.1. Different initiation.
    BC119701 mRNA. Translation: AAI19702.1. Different initiation.
    CCDSiCCDS367.2. [Q9H7C4-1]
    CCDS53294.1. [Q9H7C4-2]
    RefSeqiNP_001155180.1. NM_001161708.1.
    NP_110413.2. NM_030786.2.
    UniGeneiHs.712631.

    Genome annotation databases

    EnsembliENST00000373484; ENSP00000362583; ENSG00000162520. [Q9H7C4-2]
    ENST00000409190; ENSP00000386439; ENSG00000162520. [Q9H7C4-1]
    GeneIDi81493.
    KEGGihsa:81493.
    UCSCiuc001bvt.2. human. [Q9H7C4-1]
    uc010ohl.1. human. [Q9H7C4-2]

    Polymorphism databases

    DMDMi300669677.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK024707 mRNA. Translation: BAB14970.1 . Different initiation.
    AK297958 mRNA. Translation: BAG60270.1 .
    AK302275 mRNA. Translation: BAG63620.1 .
    AC114489 Genomic DNA. No translation available.
    BC119700 mRNA. Translation: AAI19701.1 . Different initiation.
    BC119701 mRNA. Translation: AAI19702.1 . Different initiation.
    CCDSi CCDS367.2. [Q9H7C4-1 ]
    CCDS53294.1. [Q9H7C4-2 ]
    RefSeqi NP_001155180.1. NM_001161708.1.
    NP_110413.2. NM_030786.2.
    UniGenei Hs.712631.

    3D structure databases

    ProteinModelPortali Q9H7C4.
    SMRi Q9H7C4. Positions 169-293, 317-458.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123502. 1 interaction.
    STRINGi 9606.ENSP00000386439.

    PTM databases

    PhosphoSitei Q9H7C4.

    Polymorphism databases

    DMDMi 300669677.

    Proteomic databases

    MaxQBi Q9H7C4.
    PaxDbi Q9H7C4.
    PRIDEi Q9H7C4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000373484 ; ENSP00000362583 ; ENSG00000162520 . [Q9H7C4-2 ]
    ENST00000409190 ; ENSP00000386439 ; ENSG00000162520 . [Q9H7C4-1 ]
    GeneIDi 81493.
    KEGGi hsa:81493.
    UCSCi uc001bvt.2. human. [Q9H7C4-1 ]
    uc010ohl.1. human. [Q9H7C4-2 ]

    Organism-specific databases

    CTDi 81493.
    GeneCardsi GC01M033145.
    H-InvDB HIX0000378.
    HGNCi HGNC:28897. SYNC.
    HPAi HPA028311.
    MIMi 611750. gene.
    neXtProti NX_Q9H7C4.
    PharmGKBi PA164726395.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG79532.
    HOGENOMi HOG000010275.
    HOVERGENi HBG108528.
    InParanoidi Q9H7C4.
    KOi K10377.
    OMAi ECVAYQY.
    OrthoDBi EOG7MH102.
    PhylomeDBi Q9H7C4.

    Miscellaneous databases

    GenomeRNAii 81493.
    NextBioi 71734.
    PROi Q9H7C4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H7C4.
    Bgeei Q9H7C4.
    CleanExi HS_SYNC.
    Genevestigatori Q9H7C4.

    Family and domain databases

    InterProi IPR001664. IF.
    IPR027702. Syncoilin.
    [Graphical view ]
    PANTHERi PTHR23239. PTHR23239. 1 hit.
    PTHR23239:SF100. PTHR23239:SF100. 1 hit.
    Pfami PF00038. Filament. 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] (ISOFORMS 1 AND 2).
    2. "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].
    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 311-482 (ISOFORM 1).
    4. "Syncoilin upregulation in muscle of patients with neuromuscular disease."
      Brown S.C., Torelli S., Ugo I., De Biasia F., Howman E.V., Poon E., Britton J., Davies K.E., Muntoni F.
      Muscle Nerve 32:715-725(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INDUCTION.
    5. "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-325, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.

    Entry informationi

    Entry nameiSYNCI_HUMAN
    AccessioniPrimary (citable) accession number: Q9H7C4
    Secondary accession number(s): B4DNK8, B4DY58, C9IY41
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 2, 2007
    Last sequence update: July 13, 2010
    Last modified: October 1, 2014
    This is version 88 of the entry and version 3 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