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Protein

Seizure 6-like protein 2

Gene

SEZ6L2

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

Functioni

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

Enzyme and pathway databases

SignaLinkiQ6UXD5.

Names & Taxonomyi

Protein namesi
Recommended name:
Seizure 6-like protein 2
Gene namesi
Name:SEZ6L2
Synonyms:PSK
ORF Names:UNQ1903/PRO4349
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:30844. SEZ6L2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini28 – 844ExtracellularSequence analysisAdd BLAST817
Transmembranei845 – 865HelicalSequence analysisAdd BLAST21
Topological domaini866 – 910CytoplasmicSequence analysisAdd BLAST45

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi26470.
OpenTargetsiENSG00000174938.
PharmGKBiPA134924025.

Polymorphism and mutation databases

BioMutaiSEZ6L2.
DMDMi334302856.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 271 PublicationAdd BLAST27
ChainiPRO_000033388828 – 910Seizure 6-like protein 2Add BLAST883

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi173 ↔ 202By similarity
Glycosylationi176N-linked (GlcNAc...)Sequence analysis1
Glycosylationi222N-linked (GlcNAc...)Sequence analysis1
Glycosylationi247N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi290 ↔ 330By similarity
Disulfide bondi316 ↔ 345By similarity
Glycosylationi332N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi349 ↔ 376By similarity
Glycosylationi355N-linked (GlcNAc...)Sequence analysis1
Glycosylationi373N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi464 ↔ 508By similarity
Glycosylationi473N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi491 ↔ 523By similarity
Glycosylationi517N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi527 ↔ 553By similarity
Glycosylationi641N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi644 ↔ 686By similarity
Disulfide bondi672 ↔ 699By similarity
Disulfide bondi705 ↔ 747By similarity
Disulfide bondi733 ↔ 764By similarity
Disulfide bondi771 ↔ 813By similarity
Disulfide bondi799 ↔ 828By similarity

Post-translational modificationi

O-glycosylated with core 1 or possibly core 8 glycans.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ6UXD5.
MaxQBiQ6UXD5.
PaxDbiQ6UXD5.
PeptideAtlasiQ6UXD5.
PRIDEiQ6UXD5.

PTM databases

iPTMnetiQ6UXD5.
PhosphoSitePlusiQ6UXD5.

Expressioni

Inductioni

Increased expression in the majority of primary lung cancers and lung-cell lines tested.1 Publication

Gene expression databases

BgeeiENSG00000174938.
CleanExiHS_SEZ6L2.
ExpressionAtlasiQ6UXD5. baseline and differential.
GenevisibleiQ6UXD5. HS.

Organism-specific databases

HPAiHPA064471.

Interactioni

Protein-protein interaction databases

BioGridi117694. 11 interactors.
IntActiQ6UXD5. 5 interactors.
STRINGi9606.ENSP00000312550.

Structurei

3D structure databases

ProteinModelPortaliQ6UXD5.
SMRiQ6UXD5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini173 – 286CUB 1PROSITE-ProRule annotationAdd BLAST114
Domaini288 – 347Sushi 1PROSITE-ProRule annotationAdd BLAST60
Domaini349 – 459CUB 2PROSITE-ProRule annotationAdd BLAST111
Domaini462 – 525Sushi 2PROSITE-ProRule annotationAdd BLAST64
Domaini527 – 638CUB 3PROSITE-ProRule annotationAdd BLAST112
Domaini642 – 701Sushi 3PROSITE-ProRule annotationAdd BLAST60
Domaini703 – 766Sushi 4PROSITE-ProRule annotationAdd BLAST64
Domaini769 – 830Sushi 5PROSITE-ProRule annotationAdd BLAST62

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni41 – 48O-glycosylated at one site8

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi70 – 146Pro-richAdd BLAST77
Compositional biasi153 – 168Thr-richAdd BLAST16

Sequence similaritiesi

Belongs to the SEZ6 family.Curated
Contains 3 CUB domains.PROSITE-ProRule annotation
Contains 5 Sushi (CCP/SCR) domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Sushi, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IJTP. Eukaryota.
ENOG410ZD9C. LUCA.
GeneTreeiENSGT00760000118803.
HOGENOMiHOG000038008.
HOVERGENiHBG057885.
InParanoidiQ6UXD5.
PhylomeDBiQ6UXD5.
TreeFamiTF330037.

Family and domain databases

CDDicd00033. CCP. 5 hits.
cd00041. CUB. 3 hits.
Gene3Di2.60.120.290. 3 hits.
InterProiIPR000859. CUB_dom.
IPR000436. Sushi_SCR_CCP_dom.
[Graphical view]
PfamiPF00431. CUB. 1 hit.
PF00084. Sushi. 5 hits.
[Graphical view]
SMARTiSM00032. CCP. 5 hits.
SM00042. CUB. 3 hits.
[Graphical view]
SUPFAMiSSF49854. SSF49854. 3 hits.
SSF57535. SSF57535. 5 hits.
PROSITEiPS01180. CUB. 3 hits.
PS50923. SUSHI. 5 hits.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

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

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6UXD5-1) [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
MGTPRAQHPP PPQLLFLILL SCPWIQGLPL KEEEILPEPG SETPTVASEA
60 70 80 90 100
LAELLHGALL RRGPEMGYLP GSDRDPTLAT PPAGQTLAVP SLPRATEPGT
110 120 130 140 150
GPLTTAVTPN GVRGAGPTAP ELLTPPPGTT APPPPSPASP GPPLGPEGGE
160 170 180 190 200
EETTTTIITT TTVTTTVTSP VLCNNNISEG EGYVESPDLG SPVSRTLGLL
210 220 230 240 250
DCTYSIHVYP GYGIEIQVQT LNLSQEEELL VLAGGGSPGL APRLLANSSM
260 270 280 290 300
LGEGQVLRSP TNRLLLHFQS PRVPRGGGFR IHYQAYLLSC GFPPRPAHGD
310 320 330 340 350
VSVTDLHPGG TATFHCDSGY QLQGEETLIC LNGTRPSWNG ETPSCMASCG
360 370 380 390 400
GTIHNATLGR IVSPEPGGAV GPNLTCRWVI EAAEGRRLHL HFERVSLDED
410 420 430 440 450
NDRLMVRSGG SPLSPVIYDS DMDDVPERGL ISDAQSLYVE LLSETPANPL
460 470 480 490 500
LLSLRFEAFE EDRCFAPFLA HGNVTTTDPE YRPGALATFS CLPGYALEPP
510 520 530 540 550
GPPNAIECVD PTEPHWNDTE PACKAMCGGE LSEPAGVVLS PDWPQSYSPG
560 570 580 590 600
QDCVWGVHVQ EEKRILLQVE ILNVREGDML TLFDGDGPSA RVLAQLRGPQ
610 620 630 640 650
PRRRLLSSGP DLTLQFQAPP GPPNPGLGQG FVLHFKEVPR NDTCPELPPP
660 670 680 690 700
EWGWRTASHG DLIRGTVLTY QCEPGYELLG SDILTCQWDL SWSAAPPACQ
710 720 730 740 750
KIMTCADPGE IANGHRTASD AGFPVGSHVQ YRCLPGYSLE GAAMLTCYSR
760 770 780 790 800
DTGTPKWSDR VPKCALKYEP CLNPGVPENG YQTLYKHHYQ AGESLRFFCY
810 820 830 840 850
EGFELIGEVT ITCVPGHPSQ WTSQPPLCKV TQTTDPSRQL EGGNLALAIL
860 870 880 890 900
LPLGLVIVLG SGVYIYYTKL QGKSLFGFSG SHSYSPITVE SDFSNPLYEA
910
GDTREYEVSI
Length:910
Mass (Da):97,560
Last modified:May 31, 2011 - v2
Checksum:i26CC6E04170A5AE4
GO
Isoform 2 (identifier: Q6UXD5-2) [UniParc]FASTAAdd to basket
Also known as: psk-3

The sequence of this isoform differs from the canonical sequence as follows:
     72-141: Missing.

Show »
Length:840
Mass (Da):90,882
Checksum:iA160F0B6FCF0E65A
GO
Isoform 3 (identifier: Q6UXD5-3) [UniParc]FASTAAdd to basket
Also known as: psk-1

The sequence of this isoform differs from the canonical sequence as follows:
     72-141: Missing.
     830-830: V → VAYEELLDNRKLEV

Show »
Length:853
Mass (Da):92,455
Checksum:i33B4B234056492CF
GO
Isoform 4 (identifier: Q6UXD5-4) [UniParc]FASTAAdd to basket
Also known as: psk-2

The sequence of this isoform differs from the canonical sequence as follows:
     72-141: Missing.
     651-910: Missing.

Show »
Length:580
Mass (Da):62,374
Checksum:i22DD0E71DBDB184D
GO
Isoform 5 (identifier: Q6UXD5-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     27-70: Missing.
     830-830: V → VAYEELLDNRKLEV

Note: No experimental confirmation available.
Show »
Length:879
Mass (Da):94,469
Checksum:iB22F15363456EBCD
GO
Isoform 6 (identifier: Q6UXD5-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     171-284: Missing.
     829-829: K → KVAYEELLDNRKLE

Note: No experimental confirmation available.
Show »
Length:809
Mass (Da):86,861
Checksum:i04C650826BAF0268
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti228E → G in BAH11566 (PubMed:14702039).Curated1
Sequence conflicti398D → G in BAH11566 (PubMed:14702039).Curated1
Sequence conflicti494G → R in BAH11566 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06520574R → P.3 PublicationsCorresponds to variant rs11649499dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04473927 – 70Missing in isoform 5. 1 PublicationAdd BLAST44
Alternative sequenceiVSP_03359572 – 141Missing in isoform 2, isoform 3 and isoform 4. 1 PublicationAdd BLAST70
Alternative sequenceiVSP_045702171 – 284Missing in isoform 6. 1 PublicationAdd BLAST114
Alternative sequenceiVSP_033597651 – 910Missing in isoform 4. 1 PublicationAdd BLAST260
Alternative sequenceiVSP_045703829K → KVAYEELLDNRKLE in isoform 6. 1 Publication1
Alternative sequenceiVSP_033596830V → VAYEELLDNRKLEV in isoform 3 and isoform 5. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ245820 mRNA. Translation: CAB57950.1.
AJ245821 mRNA. Translation: CAB57951.1.
AJ245822 mRNA. Translation: CAB57952.1.
AY358404 mRNA. Translation: AAQ88770.1.
AK293675 mRNA. Translation: BAH11566.1.
AC120114 Genomic DNA. No translation available.
BC000567 mRNA. Translation: AAH00567.1.
CCDSiCCDS10658.1. [Q6UXD5-3]
CCDS10659.1. [Q6UXD5-1]
CCDS45458.1. [Q6UXD5-6]
CCDS58447.1. [Q6UXD5-5]
RefSeqiNP_001107571.1. NM_001114099.2. [Q6UXD5-2]
NP_001107572.1. NM_001114100.2. [Q6UXD5-6]
NP_001230261.1. NM_001243332.1.
NP_001230262.1. NM_001243333.1. [Q6UXD5-5]
NP_036542.1. NM_012410.3. [Q6UXD5-3]
NP_963869.2. NM_201575.3. [Q6UXD5-1]
UniGeneiHs.6314.

Genome annotation databases

EnsembliENST00000308713; ENSP00000312550; ENSG00000174938. [Q6UXD5-1]
ENST00000346932; ENSP00000319215; ENSG00000174938. [Q6UXD5-6]
ENST00000350527; ENSP00000310206; ENSG00000174938. [Q6UXD5-3]
ENST00000537485; ENSP00000439412; ENSG00000174938. [Q6UXD5-5]
GeneIDi26470.
KEGGihsa:26470.
UCSCiuc002dup.5. human. [Q6UXD5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ245820 mRNA. Translation: CAB57950.1.
AJ245821 mRNA. Translation: CAB57951.1.
AJ245822 mRNA. Translation: CAB57952.1.
AY358404 mRNA. Translation: AAQ88770.1.
AK293675 mRNA. Translation: BAH11566.1.
AC120114 Genomic DNA. No translation available.
BC000567 mRNA. Translation: AAH00567.1.
CCDSiCCDS10658.1. [Q6UXD5-3]
CCDS10659.1. [Q6UXD5-1]
CCDS45458.1. [Q6UXD5-6]
CCDS58447.1. [Q6UXD5-5]
RefSeqiNP_001107571.1. NM_001114099.2. [Q6UXD5-2]
NP_001107572.1. NM_001114100.2. [Q6UXD5-6]
NP_001230261.1. NM_001243332.1.
NP_001230262.1. NM_001243333.1. [Q6UXD5-5]
NP_036542.1. NM_012410.3. [Q6UXD5-3]
NP_963869.2. NM_201575.3. [Q6UXD5-1]
UniGeneiHs.6314.

3D structure databases

ProteinModelPortaliQ6UXD5.
SMRiQ6UXD5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117694. 11 interactors.
IntActiQ6UXD5. 5 interactors.
STRINGi9606.ENSP00000312550.

PTM databases

iPTMnetiQ6UXD5.
PhosphoSitePlusiQ6UXD5.

Polymorphism and mutation databases

BioMutaiSEZ6L2.
DMDMi334302856.

Proteomic databases

EPDiQ6UXD5.
MaxQBiQ6UXD5.
PaxDbiQ6UXD5.
PeptideAtlasiQ6UXD5.
PRIDEiQ6UXD5.

Protocols and materials databases

DNASUi26470.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000308713; ENSP00000312550; ENSG00000174938. [Q6UXD5-1]
ENST00000346932; ENSP00000319215; ENSG00000174938. [Q6UXD5-6]
ENST00000350527; ENSP00000310206; ENSG00000174938. [Q6UXD5-3]
ENST00000537485; ENSP00000439412; ENSG00000174938. [Q6UXD5-5]
GeneIDi26470.
KEGGihsa:26470.
UCSCiuc002dup.5. human. [Q6UXD5-1]

Organism-specific databases

CTDi26470.
DisGeNETi26470.
GeneCardsiSEZ6L2.
HGNCiHGNC:30844. SEZ6L2.
HPAiHPA064471.
MIMi616667. gene.
neXtProtiNX_Q6UXD5.
OpenTargetsiENSG00000174938.
PharmGKBiPA134924025.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJTP. Eukaryota.
ENOG410ZD9C. LUCA.
GeneTreeiENSGT00760000118803.
HOGENOMiHOG000038008.
HOVERGENiHBG057885.
InParanoidiQ6UXD5.
PhylomeDBiQ6UXD5.
TreeFamiTF330037.

Enzyme and pathway databases

SignaLinkiQ6UXD5.

Miscellaneous databases

GenomeRNAii26470.
PROiQ6UXD5.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000174938.
CleanExiHS_SEZ6L2.
ExpressionAtlasiQ6UXD5. baseline and differential.
GenevisibleiQ6UXD5. HS.

Family and domain databases

CDDicd00033. CCP. 5 hits.
cd00041. CUB. 3 hits.
Gene3Di2.60.120.290. 3 hits.
InterProiIPR000859. CUB_dom.
IPR000436. Sushi_SCR_CCP_dom.
[Graphical view]
PfamiPF00431. CUB. 1 hit.
PF00084. Sushi. 5 hits.
[Graphical view]
SMARTiSM00032. CCP. 5 hits.
SM00042. CUB. 3 hits.
[Graphical view]
SUPFAMiSSF49854. SSF49854. 3 hits.
SSF57535. SSF57535. 5 hits.
PROSITEiPS01180. CUB. 3 hits.
PS50923. SUSHI. 5 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSE6L2_HUMAN
AccessioniPrimary (citable) accession number: Q6UXD5
Secondary accession number(s): B7Z1N0
, F5H293, H7BXQ6, Q9BW82, Q9UJ45, Q9UJ46, Q9UJ47
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: May 31, 2011
Last modified: November 30, 2016
This is version 108 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

Miscellaneous

May serve as a prognostic marker for lung cancers.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.