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Q53EL9

- SEZ6_HUMAN

UniProt

Q53EL9 - SEZ6_HUMAN

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Protein

Seizure protein 6 homolog

Gene

SEZ6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini20 – 925906ExtracellularSequence AnalysisAdd
BLAST
Transmembranei926 – 94621HelicalSequence AnalysisAdd
BLAST
Topological domaini947 – 99448CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. apical dendrite Source: Ensembl
  2. dendritic shaft Source: Ensembl
  3. dendritic spine Source: Ensembl
  4. endoplasmic reticulum Source: Ensembl
  5. extracellular space Source: Ensembl
  6. integral component of membrane Source: UniProtKB-KW
  7. neuronal cell body Source: Ensembl
  8. perinuclear region of cytoplasm Source: Ensembl
  9. plasma membrane Source: UniProtKB-KW
Complete GO annotation...

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

BgeeiQ53EL9.
CleanExiHS_SEZ6.
ExpressionAtlasiQ53EL9. baseline and differential.
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...

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.
GeneTreeiENSGT00730000110744.
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

        10         20         30         40         50
MRPVALLLLP SLLALLAHGL SLEAPTVGKG QAPGIEETDG ELTAAPTPEQ
60 70 80 90 100
PERGVHFVTT APTLKLLNHH PLLEEFLQEG LEKGDEELRP ALPFQPDPPA
110 120 130 140 150
PFTPSPLPRL ANQDSRPVFT SPTPAMAAVP TQPQSKEGPW SPESESPMLR
160 170 180 190 200
ITAPLPPGPS MAVPTLGPGE IASTTPPSRA WTPTQEGPGD MGRPWVAEVV
210 220 230 240 250
SQGAGIGIQG TITSSTASGD DEETTTTTTI ITTTITTVQT PGPCSWNFSG
260 270 280 290 300
PEGSLDSPTD LSSPTDVGLD CFFYISVYPG YGVEIKVQNI SLREGETVTV
310 320 330 340 350
EGLGGPDPLP LANQSFLLRG QVIRSPTHQA ALRFQSLPPP AGPGTFHFHY
360 370 380 390 400
QAYLLSCHFP RRPAYGDVTV TSLHPGGSAR FHCATGYQLK GARHLTCLNA
410 420 430 440 450
TQPFWDSKEP VCIAACGGVI RNATTGRIVS PGFPGNYSNN LTCHWLLEAP
460 470 480 490 500
EGQRLHLHFE KVSLAEDDDR LIIRNGDNVE APPVYDSYEV EYLPIEGLLS
510 520 530 540 550
SGKHFFVELS TDSSGAAAGM ALRYEAFQQG HCYEPFVKYG NFSSSTPTYP
560 570 580 590 600
VGTTVEFSCD PGYTLEQGSI IIECVDPHDP QWNETEPACR AVCSGEITDS
610 620 630 640 650
AGVVLSPNWP EPYGRGQDCI WGVHVEEDKR IMLDIRVLRI GPGDVLTFYD
660 670 680 690 700
GDDLTARVLG QYSGPRSHFK LFTSMADVTI QFQSDPGTSV LGYQQGFVIH
710 720 730 740 750
FFEVPRNDTC PELPEIPNGW KSPSQPELVH GTVVTYQCYP GYQVVGSSVL
760 770 780 790 800
MCQWDLTWSE DLPSCQRVTS CHDPGDVEHS RRLISSPKFP VGATVQYICD
810 820 830 840 850
QGFVLMGSSI LTCHDRQAGS PKWSDRAPKC LLEQLKPCHG LSAPENGARS
860 870 880 890 900
PEKQLHPAGA TIHFSCAPGY VLKGQASIKC VPGHPSHWSD PPPICRAASL
910 920 930 940 950
DGFYNSRSLD VAKAPAASST LDAAHIAAAI FLPLVAMVLL VGGVYFYFSR
960 970 980 990
LQGKSSLQLP RPRPRPYNRI TIESAFDNPT YETGSLSFAG DERI
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. Curated
The sequence AAM22213.1 differs from that shown. Reason: Frameshift at positions 902 and 911. Curated
The sequence BAB70826.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB70912.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00730000110744.
HOVERGENi HBG057885.
InParanoidi Q53EL9.
OMAi SSILTCH.
OrthoDBi EOG7ZD1TM.
PhylomeDBi Q53EL9.
TreeFami TF330037.

Miscellaneous databases

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

Gene expression databases

Bgeei Q53EL9.
CleanExi HS_SEZ6.
ExpressionAtlasi Q53EL9. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 80 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