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Q8NB59

- SYT14_HUMAN

UniProt

Q8NB59 - SYT14_HUMAN

Protein

Synaptotagmin-14

Gene

SYT14

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 105 (01 Oct 2014)
      Sequence version 2 (17 Oct 2006)
      Previous versions | rss
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    Functioni

    May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca2+-independent.

    GO - Molecular functioni

    1. phospholipid binding Source: Ensembl

    GO - Biological processi

    1. cell death Source: UniProtKB-KW

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Synaptotagmin-14
    Alternative name(s):
    Synaptotagmin XIV
    Short name:
    SytXIV
    Gene namesi
    Name:SYT14
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:23143. SYT14.

    Subcellular locationi

    Membrane 1 Publication; Single-pass type III membrane protein 1 Publication
    Note: Localized in perinuclear and submembranous regions.

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Spinocerebellar ataxia, autosomal recessive, 11 (SCAR11) [MIM:614229]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR11 is associated with psychomotor retardation.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti439 – 4391G → D in SCAR11; shows intracellular localization different from that of the wild-type protein; forms a reticular pattern in the cytoplasm; does not show submembranous distribution; is abnormally retained in the endoplasmic reticulum consistent to improper folding. 1 Publication
    VAR_066664

    Keywords - Diseasei

    Disease mutation, Neurodegeneration

    Organism-specific databases

    MIMi614229. phenotype.
    Orphaneti284271. Autosomal recessive cerebellar ataxia - psychomotor retardation.
    PharmGKBiPA134887689.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 555555Synaptotagmin-14PRO_0000183978Add
    BLAST

    Proteomic databases

    PaxDbiQ8NB59.
    PRIDEiQ8NB59.

    PTM databases

    PhosphoSiteiQ8NB59.

    Expressioni

    Tissue specificityi

    Highly expressed in fetal and adult brain tissue.1 Publication

    Gene expression databases

    ArrayExpressiQ8NB59.
    BgeeiQ8NB59.
    CleanExiHS_SYT14.
    GenevestigatoriQ8NB59.

    Organism-specific databases

    HPAiHPA036963.

    Interactioni

    Subunit structurei

    Homodimer. Can also form heterodimers By similarity.By similarity

    Protein-protein interaction databases

    BioGridi129128. 1 interaction.
    STRINGi9606.ENSP00000418901.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NB59.
    SMRiQ8NB59. Positions 260-552.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2424ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini48 – 555508CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei25 – 4723Helical; Signal-anchor for type III membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini276 – 378103C2 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini417 – 521105C2 2PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the synaptotagmin family.Curated
    Contains 2 C2 domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG305739.
    HOVERGENiHBG062897.
    OMAiGDSKCEF.
    OrthoDBiEOG7DRJ31.
    PhylomeDBiQ8NB59.
    TreeFamiTF351132.

    Family and domain databases

    Gene3Di2.60.40.150. 2 hits.
    InterProiIPR000008. C2_dom.
    IPR028696. SYT14.
    [Graphical view]
    PANTHERiPTHR10024:SF209. PTHR10024:SF209. 1 hit.
    PfamiPF00168. C2. 2 hits.
    [Graphical view]
    SMARTiSM00239. C2. 2 hits.
    [Graphical view]
    SUPFAMiSSF49562. SSF49562. 2 hits.
    PROSITEiPS50004. C2. 1 hit.
    [Graphical view]

    Sequences (7)i

    Sequence statusi: Complete.

    This entry describes 7 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NB59-1) [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

    MAIEGGERTC GVHELICIRK VSPEAVGFLS AVGVFIILML LLFLYINKKF    50
    CFENVGGFPD LGSEYSTRKN SQDKIYNSYM DKDEHGSSSE SEDEALGKYH 100
    EALSRTHNSR LPLADSRQRN YAWETRQKYS PLSAEYDGYS SEASIDEGNC 150
    IQRMRRTPPL DELQPPPYQD DSGSPHLSCT PSEIGDSKCE FSHCSNSPRC 200
    SYNKCPSEGS TGHEIESFHN KGYEEDVPSD STAVLSPEDM SAQGSSSQLP 250
    KPFDPEPEAK YGTLDVTFDY DSQEQKLLVT VTAVTDIPTY NRTGGNSWQV 300
    HLVLLPIKKQ RAKTSIQRGP CPVFTETFKF NHVESEMIGN YAVRFRLYGV 350
    HRMKKEKIVG EKIFYLTKLN LQGKMSLPVI LEPSYNHSGC DSQMSVSEMS 400
    CSESTSSCQS LEHGSVPEIL IGLLYNATTG RLSAEVIKGS HFKNLAANRP 450
    PNTYVKLTLL NSMGQEMSKC KTSIRRGQPN PVYKETFVFQ VALFQLSDVT 500
    LILSVYNKRS MKRKEMIGWI SLGLNSSGEE ELNHWTEMKE SKGQQVCRWH 550
    ALLES 555
    Length:555
    Mass (Da):62,287
    Last modified:October 17, 2006 - v2
    Checksum:iA7E7359DC3DEF5B9
    GO
    Isoform 2 (identifier: Q8NB59-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         450-457: PPNTYVKL → HPMDCSVV
         458-555: Missing.

    Show »
    Length:457
    Mass (Da):50,923
    Checksum:i6921572FE920B878
    GO
    Isoform 3 (identifier: Q8NB59-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-38: Missing.

    Show »
    Length:517
    Mass (Da):58,289
    Checksum:i4211CBB56E0E73EC
    GO
    Isoform 4 (identifier: Q8NB59-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-38: Missing.
         299-303: QVHLV → AVTPK
         304-555: Missing.

    Show »
    Length:265
    Mass (Da):29,654
    Checksum:iFC80A0B09B5DE2BD
    GO
    Isoform 5 (identifier: Q8NB59-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         452-452: N → TFHPLLSDGLFCCLKHLIGGQVYIIRD

    Show »
    Length:581
    Mass (Da):65,215
    Checksum:i96CAD81E55551FB5
    GO
    Isoform 6 (identifier: Q8NB59-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         452-452: N → NGLFCCLKHLIGGQVYIIRD

    Show »
    Length:574
    Mass (Da):64,418
    Checksum:i0DA3491777CA1FF4
    GO
    Isoform 7 (identifier: Q8NB59-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-20: MAIEGGERTCGVHELICIRK → MASASWRLKV...ASASQVTGTT
         452-452: N → NGLFCCLKHLIGGQVYIIRD

    Note: No experimental confirmation available.

    Show »
    Length:619
    Mass (Da):69,346
    Checksum:iBD9AAB3F9D5F0AE4
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti195 – 1951S → N in CAE85112. (PubMed:15238157)Curated
    Sequence conflicti323 – 3231V → A in CAE85113. (PubMed:15238157)Curated
    Sequence conflicti514 – 5141K → E in BAC76809. (PubMed:12801916)Curated
    Sequence conflicti514 – 5141K → E in BAC03682. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti138 – 1381G → E.1 Publication
    VAR_066663
    Natural varianti439 – 4391G → D in SCAR11; shows intracellular localization different from that of the wild-type protein; forms a reticular pattern in the cytoplasm; does not show submembranous distribution; is abnormally retained in the endoplasmic reticulum consistent to improper folding. 1 Publication
    VAR_066664

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 3838Missing in isoform 3 and isoform 4. 1 PublicationVSP_011602Add
    BLAST
    Alternative sequencei1 – 2020MAIEG…ICIRK → MASASWRLKVEREPVEYMNL SVLEKIGYFSVARLEYSGTI LAHCNFRLLGSNDSSASASQ VTGTT in isoform 7. 1 PublicationVSP_046124Add
    BLAST
    Alternative sequencei299 – 3035QVHLV → AVTPK in isoform 4. 1 PublicationVSP_011603
    Alternative sequencei304 – 555252Missing in isoform 4. 1 PublicationVSP_011604Add
    BLAST
    Alternative sequencei450 – 4578PPNTYVKL → HPMDCSVV in isoform 2. 1 PublicationVSP_011605
    Alternative sequencei452 – 4521N → TFHPLLSDGLFCCLKHLIGG QVYIIRD in isoform 5. 1 PublicationVSP_011607
    Alternative sequencei452 – 4521N → NGLFCCLKHLIGGQVYIIRD in isoform 6 and isoform 7. 2 PublicationsVSP_011608
    Alternative sequencei458 – 55598Missing in isoform 2. 1 PublicationVSP_011606Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB102948 mRNA. Translation: BAC76809.1.
    AJ617623 mRNA. Translation: CAE85109.1.
    AJ617624 mRNA. Translation: CAE85110.1.
    AJ617625 mRNA. Translation: CAE85111.1.
    AJ617626 mRNA. Translation: CAE85112.1.
    AJ617627 mRNA. Translation: CAE85113.1.
    AK091517 mRNA. Translation: BAC03682.1.
    AL513263, AL022397, AL022399 Genomic DNA. Translation: CAI17884.1.
    AL022397, AL022399, AL513263 Genomic DNA. Translation: CAI17887.1.
    AL022397, AL513263, AL022399 Genomic DNA. Translation: CAI17888.1.
    AL022397, AL513263 Genomic DNA. Translation: CAI17889.1.
    AL022399, AL513263, AL022397 Genomic DNA. Translation: CAI22770.1.
    AL513263, AL022399, AL022397 Genomic DNA. Translation: CAI17885.1.
    AL513263, AL022397 Genomic DNA. Translation: CAI17886.1.
    AL022399, AL022397, AL513263 Genomic DNA. Translation: CAI22771.1.
    BC144157 mRNA. No translation available.
    CCDSiCCDS31014.1. [Q8NB59-1]
    CCDS53469.1. [Q8NB59-7]
    CCDS53470.1. [Q8NB59-6]
    CCDS58058.1. [Q8NB59-3]
    RefSeqiNP_001139734.1. NM_001146262.2. [Q8NB59-6]
    NP_001242935.1. NM_001256006.1. [Q8NB59-3]
    NP_694994.2. NM_153262.3. [Q8NB59-1]
    UniGeneiHs.658866.

    Genome annotation databases

    EnsembliENST00000367015; ENSP00000355982; ENSG00000143469. [Q8NB59-3]
    ENST00000367019; ENSP00000355986; ENSG00000143469. [Q8NB59-6]
    ENST00000472886; ENSP00000418901; ENSG00000143469. [Q8NB59-1]
    ENST00000534859; ENSP00000442891; ENSG00000143469. [Q8NB59-5]
    ENST00000537238; ENSP00000437423; ENSG00000143469. [Q8NB59-3]
    GeneIDi255928.
    KEGGihsa:255928.
    UCSCiuc001hht.5. human. [Q8NB59-6]
    uc009xcv.4. human. [Q8NB59-1]

    Polymorphism databases

    DMDMi116242810.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB102948 mRNA. Translation: BAC76809.1 .
    AJ617623 mRNA. Translation: CAE85109.1 .
    AJ617624 mRNA. Translation: CAE85110.1 .
    AJ617625 mRNA. Translation: CAE85111.1 .
    AJ617626 mRNA. Translation: CAE85112.1 .
    AJ617627 mRNA. Translation: CAE85113.1 .
    AK091517 mRNA. Translation: BAC03682.1 .
    AL513263 , AL022397 , AL022399 Genomic DNA. Translation: CAI17884.1 .
    AL022397 , AL022399 , AL513263 Genomic DNA. Translation: CAI17887.1 .
    AL022397 , AL513263 , AL022399 Genomic DNA. Translation: CAI17888.1 .
    AL022397 , AL513263 Genomic DNA. Translation: CAI17889.1 .
    AL022399 , AL513263 , AL022397 Genomic DNA. Translation: CAI22770.1 .
    AL513263 , AL022399 , AL022397 Genomic DNA. Translation: CAI17885.1 .
    AL513263 , AL022397 Genomic DNA. Translation: CAI17886.1 .
    AL022399 , AL022397 , AL513263 Genomic DNA. Translation: CAI22771.1 .
    BC144157 mRNA. No translation available.
    CCDSi CCDS31014.1. [Q8NB59-1 ]
    CCDS53469.1. [Q8NB59-7 ]
    CCDS53470.1. [Q8NB59-6 ]
    CCDS58058.1. [Q8NB59-3 ]
    RefSeqi NP_001139734.1. NM_001146262.2. [Q8NB59-6 ]
    NP_001242935.1. NM_001256006.1. [Q8NB59-3 ]
    NP_694994.2. NM_153262.3. [Q8NB59-1 ]
    UniGenei Hs.658866.

    3D structure databases

    ProteinModelPortali Q8NB59.
    SMRi Q8NB59. Positions 260-552.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 129128. 1 interaction.
    STRINGi 9606.ENSP00000418901.

    PTM databases

    PhosphoSitei Q8NB59.

    Polymorphism databases

    DMDMi 116242810.

    Proteomic databases

    PaxDbi Q8NB59.
    PRIDEi Q8NB59.

    Protocols and materials databases

    DNASUi 255928.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000367015 ; ENSP00000355982 ; ENSG00000143469 . [Q8NB59-3 ]
    ENST00000367019 ; ENSP00000355986 ; ENSG00000143469 . [Q8NB59-6 ]
    ENST00000472886 ; ENSP00000418901 ; ENSG00000143469 . [Q8NB59-1 ]
    ENST00000534859 ; ENSP00000442891 ; ENSG00000143469 . [Q8NB59-5 ]
    ENST00000537238 ; ENSP00000437423 ; ENSG00000143469 . [Q8NB59-3 ]
    GeneIDi 255928.
    KEGGi hsa:255928.
    UCSCi uc001hht.5. human. [Q8NB59-6 ]
    uc009xcv.4. human. [Q8NB59-1 ]

    Organism-specific databases

    CTDi 255928.
    GeneCardsi GC01P210112.
    HGNCi HGNC:23143. SYT14.
    HPAi HPA036963.
    MIMi 610949. gene.
    614229. phenotype.
    neXtProti NX_Q8NB59.
    Orphaneti 284271. Autosomal recessive cerebellar ataxia - psychomotor retardation.
    PharmGKBi PA134887689.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG305739.
    HOVERGENi HBG062897.
    OMAi GDSKCEF.
    OrthoDBi EOG7DRJ31.
    PhylomeDBi Q8NB59.
    TreeFami TF351132.

    Miscellaneous databases

    GeneWikii SYT14.
    GenomeRNAii 255928.
    NextBioi 92685.
    PROi Q8NB59.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8NB59.
    Bgeei Q8NB59.
    CleanExi HS_SYT14.
    Genevestigatori Q8NB59.

    Family and domain databases

    Gene3Di 2.60.40.150. 2 hits.
    InterProi IPR000008. C2_dom.
    IPR028696. SYT14.
    [Graphical view ]
    PANTHERi PTHR10024:SF209. PTHR10024:SF209. 1 hit.
    Pfami PF00168. C2. 2 hits.
    [Graphical view ]
    SMARTi SM00239. C2. 2 hits.
    [Graphical view ]
    SUPFAMi SSF49562. SSF49562. 2 hits.
    PROSITEi PS50004. C2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning, expression, and characterization of a novel class of synaptotagmin (Syt XIV) conserved from Drosophila to humans."
      Fukuda M.
      J. Biochem. 133:641-649(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. "Synaptotagmin gene content of the sequenced genomes."
      Craxton M.A.
      BMC Genomics 5:43-43(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3; 4; 5 AND 6).
    3. "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: 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. "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 7).
      Tissue: Cerebellum.
    6. "Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation."
      Doi H., Yoshida K., Yasuda T., Fukuda M., Fukuda Y., Morita H., Ikeda S., Kato R., Tsurusaki Y., Miyake N., Saitsu H., Sakai H., Miyatake S., Shiina M., Nukina N., Koyano S., Tsuji S., Kuroiwa Y., Matsumoto N.
      Am. J. Hum. Genet. 89:320-327(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANT SCAR11 ASP-439, VARIANT GLU-138, CHARACTERIZATION OF VARIANT SCAR11 ASP-439.

    Entry informationi

    Entry nameiSYT14_HUMAN
    AccessioniPrimary (citable) accession number: Q8NB59
    Secondary accession number(s): B1AJU0
    , B1AJU1, F5H426, Q5THX7, Q707N3, Q707N4, Q707N5, Q707N6, Q707N7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 27, 2004
    Last sequence update: October 17, 2006
    Last modified: October 1, 2014
    This is version 105 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 1
      Human chromosome 1: 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