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Q53EL9 (SEZ6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 77. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Seizure protein 6 homolog

Short name=SEZ-6
Short name=hSEZ-6
Gene names
Name:SEZ6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length994 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subcellular location

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

Post-translational modification

Glycosylated By similarity. Ref.6

Sequence similarities

Belongs to the SEZ6 family.

Contains 2 CUB domains.

Contains 5 Sushi (CCP/SCR) domains.

Sequence caution

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.

Ontologies

Keywords
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
Signal
Sushi
Transmembrane
Transmembrane helix
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processadult locomotory behavior

Inferred from electronic annotation. Source: Ensembl

cerebellar Purkinje cell layer development

Inferred from electronic annotation. Source: Ensembl

negative regulation of dendrite development

Inferred from electronic annotation. Source: Ensembl

positive regulation of dendrite development

Inferred from electronic annotation. Source: Ensembl

regulation of excitatory postsynaptic membrane potential

Inferred from electronic annotation. Source: Ensembl

regulation of protein kinase C signaling

Inferred from electronic annotation. Source: Ensembl

synapse maturation

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentdendritic shaft

Inferred from electronic annotation. Source: Ensembl

dendritic spine

Inferred from electronic annotation. Source: Ensembl

endoplasmic reticulum

Inferred from electronic annotation. Source: Ensembl

extracellular space

Inferred from electronic annotation. Source: Ensembl

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

neuronal cell body

Inferred from electronic annotation. Source: Ensembl

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q53EL9-1)

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.
Isoform 2 (identifier: Q53EL9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-125: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q53EL9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     985-994: SLSFAGDERI → ETREYEVSI
Note: No experimental confirmation available.
Isoform 4 (identifier: Q53EL9-4)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 1919 Potential
Chain20 – 994975Seizure protein 6 homolog
PRO_0000341346

Regions

Topological domain20 – 925906Extracellular Potential
Transmembrane926 – 94621Helical; Potential
Topological domain947 – 99448Cytoplasmic Potential
Domain355 – 41460Sushi 1
Domain416 – 527112CUB 1
Domain530 – 59162Sushi 2
Domain593 – 704112CUB 2
Domain708 – 76760Sushi 3
Domain769 – 83264Sushi 4
Domain836 – 89762Sushi 5
Region38 – 4710O-glycosylated at two sites
Region59 – 635O-glycosylated at two sites
Compositional bias90 – 18899Pro-rich
Compositional bias211 – 24030Thr-rich

Amino acid modifications

Glycosylation2891N-linked (GlcNAc...) Potential
Glycosylation3991N-linked (GlcNAc...) Potential
Glycosylation4361N-linked (GlcNAc...) Potential
Glycosylation5411N-linked (GlcNAc...) Potential
Disulfide bond357 ↔ 397 By similarity
Disulfide bond383 ↔ 412 By similarity
Disulfide bond416 ↔ 443 By similarity
Disulfide bond532 ↔ 574 By similarity
Disulfide bond559 ↔ 589 By similarity
Disulfide bond593 ↔ 619 By similarity
Disulfide bond710 ↔ 752 By similarity
Disulfide bond738 ↔ 765 By similarity
Disulfide bond771 ↔ 813 By similarity
Disulfide bond799 ↔ 830 By similarity
Disulfide bond838 ↔ 880 By similarity
Disulfide bond866 ↔ 895 By similarity

Natural variations

Alternative sequence1 – 125125Missing in isoform 2.
VSP_034250
Alternative sequence493 – 50816LPIEG…HFFVE → PPPPPPLQPHYHRVSV in isoform 4.
VSP_034251
Alternative sequence509 – 994486Missing in isoform 4.
VSP_034252
Alternative sequence985 – 99410SLSFAGDERI → ETREYEVSI in isoform 3.
VSP_034253
Natural variant3001V → M. Ref.7
VAR_044048
Natural variant3301A → V. Ref.7
VAR_044049
Natural variant5461T → A.
Corresponds to variant rs1976165 [ dbSNP | Ensembl ].
VAR_044050
Natural variant5921V → A. Ref.7
VAR_044051
Natural variant7361Y → N. Ref.7
VAR_044052
Natural variant7561L → V. Ref.7
VAR_044053
Natural variant8061M → T. Ref.2
Corresponds to variant rs12941884 [ dbSNP | Ensembl ].
VAR_044054

Experimental info

Sequence conflict781Q → H in AAM22213. Ref.1
Sequence conflict781Q → H in AAM22214. Ref.1
Sequence conflict781Q → H in AAK71497. Ref.1
Sequence conflict931P → S in AAM22213. Ref.1
Sequence conflict931P → S in AAM22214. Ref.1
Sequence conflict931P → S in AAK71497. Ref.1
Sequence conflict1411S → SPD in AAM22213. Ref.1
Sequence conflict1411S → SPD in AAM22214. Ref.1
Sequence conflict1411S → SPD in AAK71497. Ref.1
Sequence conflict2881Q → K in AAM22213. Ref.1
Sequence conflict2881Q → K in AAK71497. Ref.1
Sequence conflict3591F → L in BAD97340. Ref.3
Sequence conflict414 – 4174AACG → GECP in AAM22213. Ref.1
Sequence conflict414 – 4174AACG → GECP in AAK71497. Ref.1
Sequence conflict4171G → P in AAM22213. Ref.1
Sequence conflict4171G → P in AAK71497. Ref.1
Sequence conflict8151D → G in BAB70912. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 10, 2008. Version 2.
Checksum: BF715A8EEA4101C6

FASTA994107,425
        10         20         30         40         50         60 
MRPVALLLLP SLLALLAHGL SLEAPTVGKG QAPGIEETDG ELTAAPTPEQ PERGVHFVTT 

        70         80         90        100        110        120 
APTLKLLNHH PLLEEFLQEG LEKGDEELRP ALPFQPDPPA PFTPSPLPRL ANQDSRPVFT 

       130        140        150        160        170        180 
SPTPAMAAVP TQPQSKEGPW SPESESPMLR ITAPLPPGPS MAVPTLGPGE IASTTPPSRA 

       190        200        210        220        230        240 
WTPTQEGPGD MGRPWVAEVV SQGAGIGIQG TITSSTASGD DEETTTTTTI ITTTITTVQT 

       250        260        270        280        290        300 
PGPCSWNFSG PEGSLDSPTD LSSPTDVGLD CFFYISVYPG YGVEIKVQNI SLREGETVTV 

       310        320        330        340        350        360 
EGLGGPDPLP LANQSFLLRG QVIRSPTHQA ALRFQSLPPP AGPGTFHFHY QAYLLSCHFP 

       370        380        390        400        410        420 
RRPAYGDVTV TSLHPGGSAR FHCATGYQLK GARHLTCLNA TQPFWDSKEP VCIAACGGVI 

       430        440        450        460        470        480 
RNATTGRIVS PGFPGNYSNN LTCHWLLEAP EGQRLHLHFE KVSLAEDDDR LIIRNGDNVE 

       490        500        510        520        530        540 
APPVYDSYEV EYLPIEGLLS SGKHFFVELS TDSSGAAAGM ALRYEAFQQG HCYEPFVKYG 

       550        560        570        580        590        600 
NFSSSTPTYP VGTTVEFSCD PGYTLEQGSI IIECVDPHDP QWNETEPACR AVCSGEITDS 

       610        620        630        640        650        660 
AGVVLSPNWP EPYGRGQDCI WGVHVEEDKR IMLDIRVLRI GPGDVLTFYD GDDLTARVLG 

       670        680        690        700        710        720 
QYSGPRSHFK LFTSMADVTI QFQSDPGTSV LGYQQGFVIH FFEVPRNDTC PELPEIPNGW 

       730        740        750        760        770        780 
KSPSQPELVH GTVVTYQCYP GYQVVGSSVL MCQWDLTWSE DLPSCQRVTS CHDPGDVEHS 

       790        800        810        820        830        840 
RRLISSPKFP VGATVQYICD QGFVLMGSSI LTCHDRQAGS PKWSDRAPKC LLEQLKPCHG 

       850        860        870        880        890        900 
LSAPENGARS PEKQLHPAGA TIHFSCAPGY VLKGQASIKC VPGHPSHWSD PPPICRAASL 

       910        920        930        940        950        960 
DGFYNSRSLD VAKAPAASST LDAAHIAAAI FLPLVAMVLL VGGVYFYFSR LQGKSSLQLP 

       970        980        990 
RPRPRPYNRI TIESAFDNPT YETGSLSFAG DERI 

« Hide

Isoform 2 [UniParc].

Checksum: DECE12B2D89E9AEA
Show »

FASTA86994,072
Isoform 3 [UniParc].

Checksum: EEDA368937831723
Show »

FASTA993107,456
Isoform 4 (SEZ6b) [UniParc].

Checksum: C409C72F89CC7073
Show »

FASTA50854,396

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS45638.1. [Q53EL9-3]
CCDS45639.1. [Q53EL9-1]
RefSeqNP_001092105.1. NM_001098635.1. [Q53EL9-3]
NP_001277131.1. NM_001290202.1. [Q53EL9-2]
NP_849191.3. NM_178860.4. [Q53EL9-1]
UniGeneHs.21837.

3D structure databases

ProteinModelPortalQ53EL9.
SMRQ53EL9. Positions 412-897.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid125899. 1 interaction.
IntActQ53EL9. 2 interactions.
MINTMINT-1424044.

PTM databases

PhosphoSiteQ53EL9.

Polymorphism databases

DMDM190410975.

Proteomic databases

PaxDbQ53EL9.
PRIDEQ53EL9.

Protocols and materials databases

DNASU124925.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000317338; ENSP00000312942; ENSG00000063015. [Q53EL9-1]
ENST00000360295; ENSP00000353440; ENSG00000063015. [Q53EL9-3]
GeneID124925.
KEGGhsa:124925.
UCSCuc002hdp.2. human. [Q53EL9-1]
uc010cry.1. human. [Q53EL9-3]

Organism-specific databases

CTD124925.
GeneCardsGC17M027281.
H-InvDBHIX0013668.
HGNCHGNC:15955. SEZ6.
HPAHPA007703.
HPA011777.
neXtProtNX_Q53EL9.
PharmGKBPA38065.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG271485.
HOVERGENHBG057885.
InParanoidQ53EL9.
OMASSILTCH.
OrthoDBEOG7ZD1TM.
PhylomeDBQ53EL9.
TreeFamTF330037.

Gene expression databases

ArrayExpressQ53EL9.
BgeeQ53EL9.
CleanExHS_SEZ6.
GenevestigatorQ53EL9.

Family and domain databases

Gene3D2.60.120.290. 3 hits.
InterProIPR000859. CUB_dom.
IPR000436. Sushi_SCR_CCP.
[Graphical view]
PfamPF00431. CUB. 2 hits.
PF00084. Sushi. 5 hits.
[Graphical view]
SMARTSM00032. CCP. 5 hits.
SM00042. CUB. 2 hits.
[Graphical view]
SUPFAMSSF49854. SSF49854. 3 hits.
SSF57535. SSF57535. 5 hits.
PROSITEPS01180. CUB. 2 hits.
PS50923. SUSHI. 5 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSEZ6.
GenomeRNAi124925.
NextBio81423.
PROQ53EL9.

Entry information

Entry nameSEZ6_HUMAN
AccessionPrimary (citable) accession number: Q53EL9
Secondary accession number(s): B6ZDN1 expand/collapse secondary AC list , Q8N701, Q8NB57, Q8ND50, Q8TD25, Q96NI5, Q96NQ3
Entry history
Integrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: June 10, 2008
Last modified: July 9, 2014
This is version 77 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM