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Protein

Seizure 6-like protein

Gene

SEZ6L

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

Functioni

May contribute to specialized endoplasmic reticulum functions in neurons.By similarity

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Seizure 6-like protein
Gene namesi
Name:SEZ6L
Synonyms:KIAA0927
ORF Names:UNQ2542/PRO6094
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000100095.18
HGNCiHGNC:10763 SEZ6L
MIMi607021 gene
neXtProtiNX_Q9BYH1

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 domaini29 – 958ExtracellularSequence analysisAdd BLAST930
Transmembranei959 – 979HelicalSequence analysisAdd BLAST21
Topological domaini980 – 1024CytoplasmicSequence analysisAdd BLAST45

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi23544
OpenTargetsiENSG00000100095
PharmGKBiPA35681

Polymorphism and mutation databases

BioMutaiSEZ6L
DMDMi22002000

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 28Sequence analysisAdd BLAST28
ChainiPRO_000002232329 – 1024Seizure 6-like proteinAdd BLAST996

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi49O-linked (GalNAc...) serine1 Publication1
Disulfide bondi281 ↔ 308By similarity
Glycosylationi311N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi328N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi350N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi393 ↔ 433By similarity
Disulfide bondi419 ↔ 448By similarity
Glycosylationi435N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi458N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi474N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi514N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi567 ↔ 609By similarity
Glycosylationi576N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi594 ↔ 624By similarity
Glycosylationi618N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi674N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi742N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi745 ↔ 7871 Publication
Disulfide bondi773 ↔ 8001 Publication
Disulfide bondi806 ↔ 848By similarity
Disulfide bondi834 ↔ 865By similarity
Disulfide bondi873 ↔ 915By similarity
Disulfide bondi901 ↔ 930By similarity

Post-translational modificationi

O-glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9BYH1
PeptideAtlasiQ9BYH1
PRIDEiQ9BYH1
ProteomicsDBi79643
79644 [Q9BYH1-2]
79645 [Q9BYH1-3]
79646 [Q9BYH1-4]
79647 [Q9BYH1-5]
79648 [Q9BYH1-6]

PTM databases

iPTMnetiQ9BYH1
PhosphoSitePlusiQ9BYH1

Expressioni

Tissue specificityi

Widely expressed, including adult and fetal brains and lungs. Not expressed in all lung cancer cell lines.

Gene expression databases

BgeeiENSG00000100095 Expressed in 107 organ(s), highest expression level in forebrain
ExpressionAtlasiQ9BYH1 baseline and differential
GenevisibleiQ9BYH1 HS

Organism-specific databases

HPAiHPA045135

Interactioni

Protein-protein interaction databases

IntActiQ9BYH1, 3 interactors
STRINGi9606.ENSP00000248933

Structurei

Secondary structure

11024
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9BYH1
SMRiQ9BYH1
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9BYH1

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini281 – 389CUB 1PROSITE-ProRule annotationAdd BLAST109
Domaini391 – 450Sushi 1PROSITE-ProRule annotationAdd BLAST60
Domaini452 – 562CUB 2PROSITE-ProRule annotationAdd BLAST111
Domaini565 – 626Sushi 2PROSITE-ProRule annotationAdd BLAST62
Domaini628 – 739CUB 3PROSITE-ProRule annotationAdd BLAST112
Domaini743 – 802Sushi 3PROSITE-ProRule annotationAdd BLAST60
Domaini804 – 867Sushi 4PROSITE-ProRule annotationAdd BLAST64
Domaini871 – 932Sushi 5PROSITE-ProRule annotationAdd BLAST62

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni147 – 161O-glycosylated at one siteAdd BLAST15
Regioni176 – 180O-glycosylated at one site5

Sequence similaritiesi

Belongs to the SEZ6 family.Curated

Keywords - Domaini

Repeat, Signal, Sushi, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IJTP Eukaryota
ENOG410ZD9C LUCA
GeneTreeiENSGT00760000118803
HOVERGENiHBG057885
InParanoidiQ9BYH1
OMAiYEPYLQN
OrthoDBiEOG091G0144
PhylomeDBiQ9BYH1
TreeFamiTF330037

Family and domain databases

CDDicd00033 CCP, 5 hits
cd00041 CUB, 3 hits
Gene3Di2.60.120.290, 3 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, 3 hits
SUPFAMiSSF49854 SSF49854, 3 hits
SSF57535 SSF57535, 5 hits
PROSITEiView protein in PROSITE
PS01180 CUB, 3 hits
PS50923 SUSHI, 5 hits

Sequences (7+)i

Sequence statusi: Complete.

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

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket
Note: Experimental confirmation may be lacking for some isoforms.

This entry has 7 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 4 (identifier: Q9BYH1-1) [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
MPAARPPAAG LRGISLFLAL LLGSPAAALE RDALPEGDAS PLGPYLLPSG
60 70 80 90 100
APERGSPGKE HPEERVVTAP PSSSQSAEVL GELVLDGTAP SAHHDIPALS
110 120 130 140 150
PLLPEEARPK HALPPKKKLP SLKQVNSARK QLRPKATSAA TVQRAGSQPA
160 170 180 190 200
SQGLDLLSSS TEKPGPPGDP DPIVASEEAS EVPLWLDRKE SAVPTTPAPL
210 220 230 240 250
QISPFTSQPY VAHTLPQRPE PGEPGPDMAQ EAPQEDTSPM ALMDKGENEL
260 270 280 290 300
TGSASEESQE TTTSTIITTT VITTEQAPAL CSVSFSNPEG YIDSSDYPLL
310 320 330 340 350
PLNNFLECTY NVTVYTGYGV ELQVKSVNLS DGELLSIRGV DGPTLTVLAN
360 370 380 390 400
QTLLVEGQVI RSPTNTISVY FRTFQDDGLG TFQLHYQAFM LSCNFPRRPD
410 420 430 440 450
SGDVTVMDLH SGGVAHFHCH LGYELQGAKM LTCINASKPH WSSQEPICSA
460 470 480 490 500
PCGGAVHNAT IGRVLSPSYP ENTNGSQFCI WTIEAPEGQK LHLHFERLLL
510 520 530 540 550
HDKDRMTVHS GQTNKSALLY DSLQTESVPF EGLLSEGNTI RIEFTSDQAR
560 570 580 590 600
AASTFNIRFE AFEKGHCYEP YIQNGNFTTS DPTYNIGTIV EFTCDPGHSL
610 620 630 640 650
EQGPAIIECI NVRDPYWNDT EPLCRAMCGG ELSAVAGVVL SPNWPEPYVE
660 670 680 690 700
GEDCIWKIHV GEEKRIFLDI QFLNLSNSDI LTIYDGDEVM PHILGQYLGN
710 720 730 740 750
SGPQKLYSST PDLTIQFHSD PAGLIFGKGQ GFIMNYIEVS RNDSCSDLPE
760 770 780 790 800
IQNGWKTTSH TELVRGARIT YQCDPGYDIV GSDTLTCQWD LSWSSDPPFC
810 820 830 840 850
EKIMYCTDPG EVDHSTRLIS DPVLLVGTTI QYTCNPGFVL EGSSLLTCYS
860 870 880 890 900
RETGTPIWTS RLPHCVSEES LACDNPGLPE NGYQILYKRL YLPGESLTFM
910 920 930 940 950
CYEGFELMGE VTIRCILGQP SHWNGPLPVC KVNQDSFEHA LEVAEAAAET
960 970 980 990 1000
SLEGGNMALA IFIPVLIISL LLGGAYIYIT RCRYYSNLRL PLMYSHPYSQ
1010 1020
ITVETEFDNP IYETGETREY EVSI
Length:1,024
Mass (Da):111,782
Last modified:June 1, 2001 - v1
Checksum:iCBC0679E22C23B6E
GO
Isoform 1 (identifier: Q9BYH1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-227: Missing.
     868-944: Missing.
     1016-1024: ETREYEVSI → GTQKV

Show »
Length:716
Mass (Da):79,048
Checksum:i2D7EB9BFA5255AE6
GO
Isoform 2 (identifier: Q9BYH1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-227: Missing.
     943-943: Missing.
     1016-1024: ETREYEVSI → GTQKV

Show »
Length:792
Mass (Da):87,593
Checksum:i06B56E639B87C01A
GO
Isoform 3 (identifier: Q9BYH1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     803-867: IMYCTDPGEVDHSTRLISDPVLLVGTTIQYTCNPGFVLEGSSLLTCYSRETGTPIWTSRLPHCVS → T
     933-943: Missing.

Show »
Length:949
Mass (Da):103,497
Checksum:i64FACD9450B3F6F3
GO
Isoform 5 (identifier: Q9BYH1-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     867-943: SEESLACDNP...QDSFEHALEV → L

Show »
Length:948
Mass (Da):103,234
Checksum:iAC7FE35AA8986926
GO
Isoform 6 (identifier: Q9BYH1-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     943-943: Missing.

Show »
Length:1,023
Mass (Da):111,683
Checksum:iF944A3C541880D3A
GO
Isoform 7 (identifier: Q9BYH1-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     933-943: Missing.

Note: No experimental confirmation available.
Show »
Length:1,013
Mass (Da):110,511
Checksum:iE5A684F7BB233D9F
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B7ZLJ8B7ZLJ8_HUMAN
SEZ6L protein
SEZ6L
1,011Annotation score:
B0QYH4B0QYH4_HUMAN
Seizure 6-like protein
SEZ6L
720Annotation score:
B0QYH5B0QYH5_HUMAN
Seizure 6-like protein
SEZ6L
796Annotation score:

Sequence cautioni

The sequence BAA76771 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04333852P → L. Corresponds to variant dbSNP:rs6004989Ensembl.1
Natural variantiVAR_024348185W → L. Corresponds to variant dbSNP:rs137203Ensembl.1
Natural variantiVAR_020330430M → I1 PublicationCorresponds to variant dbSNP:rs663048Ensembl.1
Natural variantiVAR_043339671Q → H. Corresponds to variant dbSNP:rs586542Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0039761 – 227Missing in isoform 1 and isoform 2. 2 PublicationsAdd BLAST227
Alternative sequenceiVSP_003981803 – 867IMYCT…PHCVS → T in isoform 3. 1 PublicationAdd BLAST65
Alternative sequenceiVSP_013022867 – 943SEESL…HALEV → L in isoform 5. 1 PublicationAdd BLAST77
Alternative sequenceiVSP_003977868 – 944Missing in isoform 1. 2 PublicationsAdd BLAST77
Alternative sequenceiVSP_003978933 – 943Missing in isoform 3 and isoform 7. 2 PublicationsAdd BLAST11
Alternative sequenceiVSP_003979943Missing in isoform 2 and isoform 6. 2 Publications1
Alternative sequenceiVSP_0039801016 – 1024ETREYEVSI → GTQKV in isoform 1 and isoform 2. 2 Publications9

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB041736 mRNA Translation: BAB40970.1
AB023144 mRNA Translation: BAA76771.2 Different initiation.
AL035545 mRNA Translation: CAB37431.1
AL050253 mRNA Translation: CAB43355.1
AY358405 mRNA Translation: AAQ88771.1
CR456574 mRNA Translation: CAG30460.1
AL022337 Genomic DNA No translation available.
AL023513 Genomic DNA No translation available.
AL078460 Genomic DNA No translation available.
AL080273 Genomic DNA No translation available.
BC126115 mRNA Translation: AAI26116.1
BC143851 mRNA Translation: AAI43852.1
CCDSiCCDS13833.1 [Q9BYH1-1]
CCDS54508.1 [Q9BYH1-6]
CCDS54509.1 [Q9BYH1-7]
CCDS54510.1 [Q9BYH1-5]
CCDS54511.1 [Q9BYH1-4]
RefSeqiNP_001171702.1, NM_001184773.1 [Q9BYH1-6]
NP_001171703.1, NM_001184774.1 [Q9BYH1-7]
NP_001171704.1, NM_001184775.1
NP_001171705.1, NM_001184776.1 [Q9BYH1-4]
NP_001171706.1, NM_001184777.1 [Q9BYH1-5]
NP_066938.2, NM_021115.4 [Q9BYH1-1]
UniGeneiHs.194766

Genome annotation databases

EnsembliENST00000248933; ENSP00000248933; ENSG00000100095 [Q9BYH1-1]
ENST00000343706; ENSP00000342661; ENSG00000100095 [Q9BYH1-5]
ENST00000360929; ENSP00000354185; ENSG00000100095 [Q9BYH1-4]
ENST00000404234; ENSP00000384772; ENSG00000100095 [Q9BYH1-6]
ENST00000629590; ENSP00000485720; ENSG00000100095 [Q9BYH1-7]
GeneIDi23544
KEGGihsa:23544
UCSCiuc003acb.4 human [Q9BYH1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB041736 mRNA Translation: BAB40970.1
AB023144 mRNA Translation: BAA76771.2 Different initiation.
AL035545 mRNA Translation: CAB37431.1
AL050253 mRNA Translation: CAB43355.1
AY358405 mRNA Translation: AAQ88771.1
CR456574 mRNA Translation: CAG30460.1
AL022337 Genomic DNA No translation available.
AL023513 Genomic DNA No translation available.
AL078460 Genomic DNA No translation available.
AL080273 Genomic DNA No translation available.
BC126115 mRNA Translation: AAI26116.1
BC143851 mRNA Translation: AAI43852.1
CCDSiCCDS13833.1 [Q9BYH1-1]
CCDS54508.1 [Q9BYH1-6]
CCDS54509.1 [Q9BYH1-7]
CCDS54510.1 [Q9BYH1-5]
CCDS54511.1 [Q9BYH1-4]
RefSeqiNP_001171702.1, NM_001184773.1 [Q9BYH1-6]
NP_001171703.1, NM_001184774.1 [Q9BYH1-7]
NP_001171704.1, NM_001184775.1
NP_001171705.1, NM_001184776.1 [Q9BYH1-4]
NP_001171706.1, NM_001184777.1 [Q9BYH1-5]
NP_066938.2, NM_021115.4 [Q9BYH1-1]
UniGeneiHs.194766

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YRANMR-A745-802[»]
ProteinModelPortaliQ9BYH1
SMRiQ9BYH1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ9BYH1, 3 interactors
STRINGi9606.ENSP00000248933

PTM databases

iPTMnetiQ9BYH1
PhosphoSitePlusiQ9BYH1

Polymorphism and mutation databases

BioMutaiSEZ6L
DMDMi22002000

Proteomic databases

PaxDbiQ9BYH1
PeptideAtlasiQ9BYH1
PRIDEiQ9BYH1
ProteomicsDBi79643
79644 [Q9BYH1-2]
79645 [Q9BYH1-3]
79646 [Q9BYH1-4]
79647 [Q9BYH1-5]
79648 [Q9BYH1-6]

Protocols and materials databases

DNASUi23544
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000248933; ENSP00000248933; ENSG00000100095 [Q9BYH1-1]
ENST00000343706; ENSP00000342661; ENSG00000100095 [Q9BYH1-5]
ENST00000360929; ENSP00000354185; ENSG00000100095 [Q9BYH1-4]
ENST00000404234; ENSP00000384772; ENSG00000100095 [Q9BYH1-6]
ENST00000629590; ENSP00000485720; ENSG00000100095 [Q9BYH1-7]
GeneIDi23544
KEGGihsa:23544
UCSCiuc003acb.4 human [Q9BYH1-1]

Organism-specific databases

CTDi23544
DisGeNETi23544
EuPathDBiHostDB:ENSG00000100095.18
GeneCardsiSEZ6L
HGNCiHGNC:10763 SEZ6L
HPAiHPA045135
MIMi607021 gene
neXtProtiNX_Q9BYH1
OpenTargetsiENSG00000100095
PharmGKBiPA35681
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJTP Eukaryota
ENOG410ZD9C LUCA
GeneTreeiENSGT00760000118803
HOVERGENiHBG057885
InParanoidiQ9BYH1
OMAiYEPYLQN
OrthoDBiEOG091G0144
PhylomeDBiQ9BYH1
TreeFamiTF330037

Miscellaneous databases

ChiTaRSiSEZ6L human
EvolutionaryTraceiQ9BYH1
GeneWikiiSEZ6L
GenomeRNAii23544
PROiPR:Q9BYH1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100095 Expressed in 107 organ(s), highest expression level in forebrain
ExpressionAtlasiQ9BYH1 baseline and differential
GenevisibleiQ9BYH1 HS

Family and domain databases

CDDicd00033 CCP, 5 hits
cd00041 CUB, 3 hits
Gene3Di2.60.120.290, 3 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, 3 hits
SUPFAMiSSF49854 SSF49854, 3 hits
SSF57535 SSF57535, 5 hits
PROSITEiView protein in PROSITE
PS01180 CUB, 3 hits
PS50923 SUSHI, 5 hits
ProtoNetiSearch...

Entry informationi

Entry nameiSE6L1_HUMAN
AccessioniPrimary (citable) accession number: Q9BYH1
Secondary accession number(s): A0AUW7
, B0QYG4, B0QYG5, B7ZLJ6, G8JLP3, O95917, Q5THY5, Q6IBZ4, Q6UXD4, Q9NUI3, Q9NUI4, Q9NUI5, Q9Y2E1, Q9Y3J6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 26, 2002
Last sequence update: June 1, 2001
Last modified: November 7, 2018
This is version 151 of the entry and version 1 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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