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Protein

Seizure protein 6 homolog

Gene

SEZ6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

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
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000063015.19
HGNCiHGNC:15955 SEZ6
MIMi616666 gene
neXtProtiNX_Q53EL9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini20 – 925ExtracellularSequence analysisAdd BLAST906
Transmembranei926 – 946HelicalSequence analysisAdd BLAST21
Topological domaini947 – 994CytoplasmicSequence analysisAdd BLAST48

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi124925
OpenTargetsiENSG00000063015
PharmGKBiPA38065

Polymorphism and mutation databases

BioMutaiSEZ6
DMDMi190410975

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 19Sequence analysisAdd BLAST19
ChainiPRO_000034134620 – 994Seizure protein 6 homologAdd BLAST975

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi289N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi357 ↔ 397By similarity
Disulfide bondi383 ↔ 412By similarity
Glycosylationi399N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi416 ↔ 443By similarity
Glycosylationi436N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi532 ↔ 574By similarity
Glycosylationi541N-linked (GlcNAc...) asparagineSequence analysis1
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
PeptideAtlasiQ53EL9
PRIDEiQ53EL9
ProteomicsDBi62438
62439 [Q53EL9-2]
62440 [Q53EL9-3]
62441 [Q53EL9-4]

PTM databases

iPTMnetiQ53EL9
PhosphoSitePlusiQ53EL9

Expressioni

Gene expression databases

BgeeiENSG00000063015
CleanExiHS_SEZ6
ExpressionAtlasiQ53EL9 baseline and differential
GenevisibleiQ53EL9 HS

Organism-specific databases

HPAiHPA011777

Interactioni

Protein-protein interaction databases

BioGridi125899, 1 interactor
IntActiQ53EL9, 3 interactors
MINTiQ53EL9

Structurei

3D structure databases

ProteinModelPortaliQ53EL9
SMRiQ53EL9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini355 – 414Sushi 1PROSITE-ProRule annotationAdd BLAST60
Domaini416 – 527CUB 1PROSITE-ProRule annotationAdd BLAST112
Domaini530 – 591Sushi 2PROSITE-ProRule annotationAdd BLAST62
Domaini593 – 704CUB 2PROSITE-ProRule annotationAdd BLAST112
Domaini708 – 767Sushi 3PROSITE-ProRule annotationAdd BLAST60
Domaini769 – 832Sushi 4PROSITE-ProRule annotationAdd BLAST64
Domaini836 – 897Sushi 5PROSITE-ProRule annotationAdd BLAST62

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni38 – 47O-glycosylated at two sites10
Regioni59 – 63O-glycosylated at two sites5

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi90 – 188Pro-richAdd BLAST99
Compositional biasi211 – 240Thr-richAdd BLAST30

Sequence similaritiesi

Belongs to the SEZ6 family.Curated

Keywords - Domaini

Repeat, Signal, Sushi, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IS3V Eukaryota
ENOG410YA6K LUCA
GeneTreeiENSGT00760000118803
HOVERGENiHBG057885
InParanoidiQ53EL9
OMAiSHFKLFT
PhylomeDBiQ53EL9
TreeFamiTF330037

Family and domain databases

CDDicd00033 CCP, 5 hits
cd00041 CUB, 2 hits
Gene3Di2.60.120.290, 2 hits
InterProiView protein in InterPro
IPR000859 CUB_dom
IPR035914 Sperma_CUB_dom_sf
IPR035976 Sushi/SCR/CCP_sf
IPR000436 Sushi_SCR_CCP_dom
PfamiView protein in Pfam
PF00431 CUB, 2 hits
PF00084 Sushi, 5 hits
SMARTiView protein in SMART
SM00032 CCP, 5 hits
SM00042 CUB, 2 hits
SUPFAMiSSF49854 SSF49854, 3 hits
SSF57535 SSF57535, 5 hits
PROSITEiView protein in PROSITE
PS01180 CUB, 2 hits
PS50923 SUSHI, 5 hits

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. AlignAdd to basket

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti78Q → H in AAM22213 (Ref. 1) Curated1
Sequence conflicti78Q → H in AAM22214 (Ref. 1) Curated1
Sequence conflicti78Q → H in AAK71497 (Ref. 1) Curated1
Sequence conflicti93P → S in AAM22213 (Ref. 1) Curated1
Sequence conflicti93P → S in AAM22214 (Ref. 1) Curated1
Sequence conflicti93P → S in AAK71497 (Ref. 1) Curated1
Sequence conflicti141S → SPD in AAM22213 (Ref. 1) Curated1
Sequence conflicti141S → SPD in AAM22214 (Ref. 1) Curated1
Sequence conflicti141S → SPD in AAK71497 (Ref. 1) Curated1
Sequence conflicti288Q → K in AAM22213 (Ref. 1) Curated1
Sequence conflicti288Q → K in AAK71497 (Ref. 1) Curated1
Sequence conflicti359F → L in BAD97340 (Ref. 3) Curated1
Sequence conflicti414 – 417AACG → GECP in AAM22213 (Ref. 1) Curated4
Sequence conflicti414 – 417AACG → GECP in AAK71497 (Ref. 1) Curated4
Sequence conflicti417G → P in AAM22213 (Ref. 1) Curated1
Sequence conflicti417G → P in AAK71497 (Ref. 1) Curated1
Sequence conflicti815D → G in BAB70912 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_044048300V → M1 Publication1
Natural variantiVAR_044049330A → V1 PublicationCorresponds to variant dbSNP:rs754657367Ensembl.1
Natural variantiVAR_044050546T → A. Corresponds to variant dbSNP:rs1976165Ensembl.1
Natural variantiVAR_044051592V → A1 Publication1
Natural variantiVAR_044052736Y → N1 Publication1
Natural variantiVAR_044053756L → V1 Publication1
Natural variantiVAR_044054806M → T1 PublicationCorresponds to variant dbSNP:rs12941884Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0342501 – 125Missing in isoform 2. 1 PublicationAdd BLAST125
Alternative sequenceiVSP_034251493 – 508LPIEG…HFFVE → PPPPPPLQPHYHRVSV in isoform 4. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_034252509 – 994Missing in isoform 4. 1 PublicationAdd BLAST486
Alternative sequenceiVSP_034253985 – 994SLSFAGDERI → ETREYEVSI in isoform 3. 1 Publication10

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.3 human [Q53EL9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSEZ6_HUMAN
AccessioniPrimary (citable) accession number: Q53EL9
Secondary accession number(s): B6ZDN1
, Q8N701, Q8NB57, Q8ND50, Q8TD25, Q96NI5, Q96NQ3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 10, 2008
Last sequence update: June 10, 2008
Last modified: June 20, 2018
This is version 107 of the entry and version 2 of the sequence. See 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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