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Q53EL9

- SEZ6_HUMAN

UniProt

Q53EL9 - SEZ6_HUMAN

Protein

Seizure protein 6 homolog

Gene

SEZ6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 78 (01 Oct 2014)
      Sequence version 2 (10 Jun 2008)
      Previous versions | rss
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    Functioni

    May play a role in cell-cell recognition and in neuronal membrane signaling. Seems to be important for the achievement of the necessary balance between dendrite elongation and branching during the elaboration of a complex dendritic arbor. Involved in the development of appropriate excitatory synaptic connectivity By similarity.By similarity

    GO - Biological processi

    1. adult locomotory behavior Source: Ensembl
    2. cerebellar Purkinje cell layer development Source: Ensembl
    3. negative regulation of dendrite development Source: Ensembl
    4. positive regulation of dendrite development Source: Ensembl
    5. regulation of excitatory postsynaptic membrane potential Source: Ensembl
    6. regulation of protein kinase C signaling Source: Ensembl
    7. synapse maturation Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Seizure protein 6 homolog
    Short name:
    SEZ-6
    Short name:
    hSEZ-6
    Gene namesi
    Name:SEZ6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:15955. SEZ6.

    Subcellular locationi

    Cell membrane By similarity; Single-pass type I membrane protein By similarity
    Note: Localized on dendrites and in the synaptic and postsynaptic fraction.By similarity

    GO - Cellular componenti

    1. dendritic shaft Source: Ensembl
    2. dendritic spine Source: Ensembl
    3. endoplasmic reticulum Source: Ensembl
    4. extracellular space Source: Ensembl
    5. integral component of membrane Source: UniProtKB-KW
    6. neuronal cell body Source: Ensembl
    7. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA38065.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1919Sequence AnalysisAdd
    BLAST
    Chaini20 – 994975Seizure protein 6 homologPRO_0000341346Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi289 – 2891N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi357 ↔ 397By similarity
    Disulfide bondi383 ↔ 412By similarity
    Glycosylationi399 – 3991N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi416 ↔ 443By similarity
    Glycosylationi436 – 4361N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi532 ↔ 574By similarity
    Glycosylationi541 – 5411N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi559 ↔ 589By similarity
    Disulfide bondi593 ↔ 619By similarity
    Disulfide bondi710 ↔ 752By similarity
    Disulfide bondi738 ↔ 765By similarity
    Disulfide bondi771 ↔ 813By similarity
    Disulfide bondi799 ↔ 830By similarity
    Disulfide bondi838 ↔ 880By similarity
    Disulfide bondi866 ↔ 895By similarity

    Post-translational modificationi

    Glycosylated.By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ53EL9.
    PRIDEiQ53EL9.

    PTM databases

    PhosphoSiteiQ53EL9.

    Expressioni

    Gene expression databases

    ArrayExpressiQ53EL9.
    BgeeiQ53EL9.
    CleanExiHS_SEZ6.
    GenevestigatoriQ53EL9.

    Organism-specific databases

    HPAiHPA007703.
    HPA011777.

    Interactioni

    Protein-protein interaction databases

    BioGridi125899. 1 interaction.
    IntActiQ53EL9. 2 interactions.
    MINTiMINT-1424044.

    Structurei

    3D structure databases

    ProteinModelPortaliQ53EL9.
    SMRiQ53EL9. Positions 412-897.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini20 – 925906ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini947 – 99448CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei926 – 94621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini355 – 41460Sushi 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini416 – 527112CUB 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini530 – 59162Sushi 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini593 – 704112CUB 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini708 – 76760Sushi 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini769 – 83264Sushi 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini836 – 89762Sushi 5PROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni38 – 4710O-glycosylated at two sites
    Regioni59 – 635O-glycosylated at two sites

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi90 – 18899Pro-richAdd
    BLAST
    Compositional biasi211 – 24030Thr-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the SEZ6 family.Curated
    Contains 2 CUB domains.PROSITE-ProRule annotation
    Contains 5 Sushi (CCP/SCR) domains.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Signal, Sushi, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG271485.
    HOVERGENiHBG057885.
    InParanoidiQ53EL9.
    OMAiSSILTCH.
    OrthoDBiEOG7ZD1TM.
    PhylomeDBiQ53EL9.
    TreeFamiTF330037.

    Family and domain databases

    Gene3Di2.60.120.290. 3 hits.
    InterProiIPR000859. CUB_dom.
    IPR000436. Sushi_SCR_CCP.
    [Graphical view]
    PfamiPF00431. CUB. 2 hits.
    PF00084. Sushi. 5 hits.
    [Graphical view]
    SMARTiSM00032. CCP. 5 hits.
    SM00042. CUB. 2 hits.
    [Graphical view]
    SUPFAMiSSF49854. SSF49854. 3 hits.
    SSF57535. SSF57535. 5 hits.
    PROSITEiPS01180. CUB. 2 hits.
    PS50923. SUSHI. 5 hits.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q53EL9-1) [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

    MRPVALLLLP SLLALLAHGL SLEAPTVGKG QAPGIEETDG ELTAAPTPEQ    50
    PERGVHFVTT APTLKLLNHH PLLEEFLQEG LEKGDEELRP ALPFQPDPPA 100
    PFTPSPLPRL ANQDSRPVFT SPTPAMAAVP TQPQSKEGPW SPESESPMLR 150
    ITAPLPPGPS MAVPTLGPGE IASTTPPSRA WTPTQEGPGD MGRPWVAEVV 200
    SQGAGIGIQG TITSSTASGD DEETTTTTTI ITTTITTVQT PGPCSWNFSG 250
    PEGSLDSPTD LSSPTDVGLD CFFYISVYPG YGVEIKVQNI SLREGETVTV 300
    EGLGGPDPLP LANQSFLLRG QVIRSPTHQA ALRFQSLPPP AGPGTFHFHY 350
    QAYLLSCHFP RRPAYGDVTV TSLHPGGSAR FHCATGYQLK GARHLTCLNA 400
    TQPFWDSKEP VCIAACGGVI RNATTGRIVS PGFPGNYSNN LTCHWLLEAP 450
    EGQRLHLHFE KVSLAEDDDR LIIRNGDNVE APPVYDSYEV EYLPIEGLLS 500
    SGKHFFVELS TDSSGAAAGM ALRYEAFQQG HCYEPFVKYG NFSSSTPTYP 550
    VGTTVEFSCD PGYTLEQGSI IIECVDPHDP QWNETEPACR AVCSGEITDS 600
    AGVVLSPNWP EPYGRGQDCI WGVHVEEDKR IMLDIRVLRI GPGDVLTFYD 650
    GDDLTARVLG QYSGPRSHFK LFTSMADVTI QFQSDPGTSV LGYQQGFVIH 700
    FFEVPRNDTC PELPEIPNGW KSPSQPELVH GTVVTYQCYP GYQVVGSSVL 750
    MCQWDLTWSE DLPSCQRVTS CHDPGDVEHS RRLISSPKFP VGATVQYICD 800
    QGFVLMGSSI LTCHDRQAGS PKWSDRAPKC LLEQLKPCHG LSAPENGARS 850
    PEKQLHPAGA TIHFSCAPGY VLKGQASIKC VPGHPSHWSD PPPICRAASL 900
    DGFYNSRSLD VAKAPAASST LDAAHIAAAI FLPLVAMVLL VGGVYFYFSR 950
    LQGKSSLQLP RPRPRPYNRI TIESAFDNPT YETGSLSFAG DERI 994
    Length:994
    Mass (Da):107,425
    Last modified:June 10, 2008 - v2
    Checksum:iBF715A8EEA4101C6
    GO
    Isoform 2 (identifier: Q53EL9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-125: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:869
    Mass (Da):94,072
    Checksum:iDECE12B2D89E9AEA
    GO
    Isoform 3 (identifier: Q53EL9-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         985-994: SLSFAGDERI → ETREYEVSI

    Note: No experimental confirmation available.

    Show »
    Length:993
    Mass (Da):107,456
    Checksum:iEEDA368937831723
    GO
    Isoform 4 (identifier: Q53EL9-4) [UniParc]FASTAAdd to Basket

    Also known as: SEZ6b

    The sequence of this isoform differs from the canonical sequence as follows:
         493-508: LPIEGLLSSGKHFFVE → PPPPPPLQPHYHRVSV
         509-994: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:508
    Mass (Da):54,396
    Checksum:iC409C72F89CC7073
    GO

    Sequence cautioni

    The sequence AAK71497.1 differs from that shown. Reason: Frameshift at positions 902 and 911.
    The sequence AAM22213.1 differs from that shown. Reason: Frameshift at positions 902 and 911.
    The sequence BAB70826.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence BAB70912.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti78 – 781Q → H in AAM22213. 1 PublicationCurated
    Sequence conflicti78 – 781Q → H in AAM22214. 1 PublicationCurated
    Sequence conflicti78 – 781Q → H in AAK71497. 1 PublicationCurated
    Sequence conflicti93 – 931P → S in AAM22213. 1 PublicationCurated
    Sequence conflicti93 – 931P → S in AAM22214. 1 PublicationCurated
    Sequence conflicti93 – 931P → S in AAK71497. 1 PublicationCurated
    Sequence conflicti141 – 1411S → SPD in AAM22213. 1 PublicationCurated
    Sequence conflicti141 – 1411S → SPD in AAM22214. 1 PublicationCurated
    Sequence conflicti141 – 1411S → SPD in AAK71497. 1 PublicationCurated
    Sequence conflicti288 – 2881Q → K in AAM22213. 1 PublicationCurated
    Sequence conflicti288 – 2881Q → K in AAK71497. 1 PublicationCurated
    Sequence conflicti359 – 3591F → L in BAD97340. 1 PublicationCurated
    Sequence conflicti414 – 4174AACG → GECP in AAM22213. 1 PublicationCurated
    Sequence conflicti414 – 4174AACG → GECP in AAK71497. 1 PublicationCurated
    Sequence conflicti417 – 4171G → P in AAM22213. 1 PublicationCurated
    Sequence conflicti417 – 4171G → P in AAK71497. 1 PublicationCurated
    Sequence conflicti815 – 8151D → G in BAB70912. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti300 – 3001V → M.1 Publication
    VAR_044048
    Natural varianti330 – 3301A → V.1 Publication
    VAR_044049
    Natural varianti546 – 5461T → A.
    Corresponds to variant rs1976165 [ dbSNP | Ensembl ].
    VAR_044050
    Natural varianti592 – 5921V → A.1 Publication
    VAR_044051
    Natural varianti736 – 7361Y → N.1 Publication
    VAR_044052
    Natural varianti756 – 7561L → V.1 Publication
    VAR_044053
    Natural varianti806 – 8061M → T.1 Publication
    Corresponds to variant rs12941884 [ dbSNP | Ensembl ].
    VAR_044054

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 125125Missing in isoform 2. 1 PublicationVSP_034250Add
    BLAST
    Alternative sequencei493 – 50816LPIEG…HFFVE → PPPPPPLQPHYHRVSV in isoform 4. 1 PublicationVSP_034251Add
    BLAST
    Alternative sequencei509 – 994486Missing in isoform 4. 1 PublicationVSP_034252Add
    BLAST
    Alternative sequencei985 – 99410SLSFAGDERI → ETREYEVSI in isoform 3. 1 PublicationVSP_034253

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY038048 mRNA. Translation: AAK71497.1. Frameshift.
    AF502129 mRNA. Translation: AAM22213.1. Frameshift.
    AF502130 mRNA. Translation: AAM22214.1.
    AK054913 mRNA. Translation: BAB70826.1. Different initiation.
    AK055383 mRNA. Translation: BAB70912.1. Different initiation.
    AK091522 mRNA. Translation: BAC03684.1.
    AK223620 mRNA. Translation: BAD97340.1.
    AC024267 Genomic DNA. No translation available.
    AC024619 Genomic DNA. No translation available.
    AL834405 mRNA. Translation: CAD39067.1.
    CCDSiCCDS45638.1. [Q53EL9-3]
    CCDS45639.1. [Q53EL9-1]
    RefSeqiNP_001092105.1. NM_001098635.1. [Q53EL9-3]
    NP_001277131.1. NM_001290202.1. [Q53EL9-2]
    NP_849191.3. NM_178860.4. [Q53EL9-1]
    UniGeneiHs.21837.

    Genome annotation databases

    EnsembliENST00000317338; ENSP00000312942; ENSG00000063015. [Q53EL9-1]
    ENST00000360295; ENSP00000353440; ENSG00000063015. [Q53EL9-3]
    GeneIDi124925.
    KEGGihsa:124925.
    UCSCiuc002hdp.2. human. [Q53EL9-1]
    uc010cry.1. human. [Q53EL9-3]

    Polymorphism databases

    DMDMi190410975.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY038048 mRNA. Translation: AAK71497.1 . Frameshift.
    AF502129 mRNA. Translation: AAM22213.1 . Frameshift.
    AF502130 mRNA. Translation: AAM22214.1 .
    AK054913 mRNA. Translation: BAB70826.1 . Different initiation.
    AK055383 mRNA. Translation: BAB70912.1 . Different initiation.
    AK091522 mRNA. Translation: BAC03684.1 .
    AK223620 mRNA. Translation: BAD97340.1 .
    AC024267 Genomic DNA. No translation available.
    AC024619 Genomic DNA. No translation available.
    AL834405 mRNA. Translation: CAD39067.1 .
    CCDSi CCDS45638.1. [Q53EL9-3 ]
    CCDS45639.1. [Q53EL9-1 ]
    RefSeqi NP_001092105.1. NM_001098635.1. [Q53EL9-3 ]
    NP_001277131.1. NM_001290202.1. [Q53EL9-2 ]
    NP_849191.3. NM_178860.4. [Q53EL9-1 ]
    UniGenei Hs.21837.

    3D structure databases

    ProteinModelPortali Q53EL9.
    SMRi Q53EL9. Positions 412-897.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125899. 1 interaction.
    IntActi Q53EL9. 2 interactions.
    MINTi MINT-1424044.

    PTM databases

    PhosphoSitei Q53EL9.

    Polymorphism databases

    DMDMi 190410975.

    Proteomic databases

    PaxDbi Q53EL9.
    PRIDEi Q53EL9.

    Protocols and materials databases

    DNASUi 124925.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000317338 ; ENSP00000312942 ; ENSG00000063015 . [Q53EL9-1 ]
    ENST00000360295 ; ENSP00000353440 ; ENSG00000063015 . [Q53EL9-3 ]
    GeneIDi 124925.
    KEGGi hsa:124925.
    UCSCi uc002hdp.2. human. [Q53EL9-1 ]
    uc010cry.1. human. [Q53EL9-3 ]

    Organism-specific databases

    CTDi 124925.
    GeneCardsi GC17M027281.
    H-InvDB HIX0013668.
    HGNCi HGNC:15955. SEZ6.
    HPAi HPA007703.
    HPA011777.
    neXtProti NX_Q53EL9.
    PharmGKBi PA38065.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG271485.
    HOVERGENi HBG057885.
    InParanoidi Q53EL9.
    OMAi SSILTCH.
    OrthoDBi EOG7ZD1TM.
    PhylomeDBi Q53EL9.
    TreeFami TF330037.

    Miscellaneous databases

    GeneWikii SEZ6.
    GenomeRNAii 124925.
    NextBioi 81423.
    PROi Q53EL9.

    Gene expression databases

    ArrayExpressi Q53EL9.
    Bgeei Q53EL9.
    CleanExi HS_SEZ6.
    Genevestigatori Q53EL9.

    Family and domain databases

    Gene3Di 2.60.120.290. 3 hits.
    InterProi IPR000859. CUB_dom.
    IPR000436. Sushi_SCR_CCP.
    [Graphical view ]
    Pfami PF00431. CUB. 2 hits.
    PF00084. Sushi. 5 hits.
    [Graphical view ]
    SMARTi SM00032. CCP. 5 hits.
    SM00042. CUB. 2 hits.
    [Graphical view ]
    SUPFAMi SSF49854. SSF49854. 3 hits.
    SSF57535. SSF57535. 5 hits.
    PROSITEi PS01180. CUB. 2 hits.
    PS50923. SUSHI. 5 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Huang X.H., Guo J.H., Yu L.
      Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4).
      Tissue: Brain and Oligodendroglioma.
    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 2), VARIANT THR-806.
      Tissue: Brain and Cerebellum.
    3. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
      Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    4. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 22-994 (ISOFORM 3).
      Tissue: Brain.
    6. "LC-MS/MS characterization of O-glycosylation sites and glycan structures of human cerebrospinal fluid glycoproteins."
      Halim A., Ruetschi U., Larson G., Nilsson J.
      J. Proteome Res. 12:573-584(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: GLYCOSYLATION, IDENTIFICATION BY MASS SPECTROMETRY.
    7. "Febrile seizures are associated with mutation of seizure-related (SEZ) 6, a brain-specific gene."
      Yu Z.-L., Jiang J.-M., Wu D.-H., Xie H.-J., Jiang J.-J., Zhou L., Peng L., Bao G.-S.
      J. Neurosci. Res. 85:166-172(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MET-300; VAL-330; ALA-592; ASN-736 AND VAL-756.

    Entry informationi

    Entry nameiSEZ6_HUMAN
    AccessioniPrimary (citable) accession number: Q53EL9
    Secondary accession number(s): B6ZDN1
    , Q8N701, Q8NB57, Q8ND50, Q8TD25, Q96NI5, Q96NQ3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 10, 2008
    Last sequence update: June 10, 2008
    Last modified: October 1, 2014
    This is version 78 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 17
      Human chromosome 17: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3