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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)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini28 – 844817ExtracellularSequence analysisAdd
BLAST
Transmembranei845 – 86521HelicalSequence analysisAdd
BLAST
Topological domaini866 – 91045CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134924025.

Polymorphism and mutation databases

BioMutaiSEZ6L2.
DMDMi334302856.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 27271 PublicationAdd
BLAST
Chaini28 – 910883Seizure 6-like protein 2PRO_0000333888Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi173 ↔ 202By similarity
Glycosylationi176 – 1761N-linked (GlcNAc...)Sequence analysis
Glycosylationi222 – 2221N-linked (GlcNAc...)Sequence analysis
Glycosylationi247 – 2471N-linked (GlcNAc...)Sequence analysis
Disulfide bondi290 ↔ 330By similarity
Disulfide bondi316 ↔ 345By similarity
Glycosylationi332 – 3321N-linked (GlcNAc...)Sequence analysis
Disulfide bondi349 ↔ 376By similarity
Glycosylationi355 – 3551N-linked (GlcNAc...)Sequence analysis
Glycosylationi373 – 3731N-linked (GlcNAc...)Sequence analysis
Disulfide bondi464 ↔ 508By similarity
Glycosylationi473 – 4731N-linked (GlcNAc...)Sequence analysis
Disulfide bondi491 ↔ 523By similarity
Glycosylationi517 – 5171N-linked (GlcNAc...)Sequence analysis
Disulfide bondi527 ↔ 553By similarity
Glycosylationi641 – 6411N-linked (GlcNAc...)Sequence analysis
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.
PhosphoSiteiQ6UXD5.

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 interactions.
IntActiQ6UXD5. 5 interactions.
STRINGi9606.ENSP00000312550.

Structurei

3D structure databases

ProteinModelPortaliQ6UXD5.
SMRiQ6UXD5. Positions 523-829.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini173 – 286114CUB 1PROSITE-ProRule annotationAdd
BLAST
Domaini288 – 34760Sushi 1PROSITE-ProRule annotationAdd
BLAST
Domaini349 – 459111CUB 2PROSITE-ProRule annotationAdd
BLAST
Domaini462 – 52564Sushi 2PROSITE-ProRule annotationAdd
BLAST
Domaini527 – 638112CUB 3PROSITE-ProRule annotationAdd
BLAST
Domaini642 – 70160Sushi 3PROSITE-ProRule annotationAdd
BLAST
Domaini703 – 76664Sushi 4PROSITE-ProRule annotationAdd
BLAST
Domaini769 – 83062Sushi 5PROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni41 – 488O-glycosylated at one site

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi70 – 14677Pro-richAdd
BLAST
Compositional biasi153 – 16816Thr-richAdd
BLAST

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

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti228 – 2281E → G in BAH11566 (PubMed:14702039).Curated
Sequence conflicti398 – 3981D → G in BAH11566 (PubMed:14702039).Curated
Sequence conflicti494 – 4941G → R in BAH11566 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti74 – 741R → P.3 Publications
Corresponds to variant rs11649499 [ dbSNP | Ensembl ].
VAR_065205

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei27 – 7044Missing in isoform 5. 1 PublicationVSP_044739Add
BLAST
Alternative sequencei72 – 14170Missing in isoform 2, isoform 3 and isoform 4. 1 PublicationVSP_033595Add
BLAST
Alternative sequencei171 – 284114Missing in isoform 6. 1 PublicationVSP_045702Add
BLAST
Alternative sequencei651 – 910260Missing in isoform 4. 1 PublicationVSP_033597Add
BLAST
Alternative sequencei829 – 8291K → KVAYEELLDNRKLE in isoform 6. 1 PublicationVSP_045703
Alternative sequencei830 – 8301V → VAYEELLDNRKLEV in isoform 3 and isoform 5. 2 PublicationsVSP_033596

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. Positions 523-829.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117694. 11 interactions.
IntActiQ6UXD5. 5 interactions.
STRINGi9606.ENSP00000312550.

PTM databases

iPTMnetiQ6UXD5.
PhosphoSiteiQ6UXD5.

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.
GeneCardsiSEZ6L2.
HGNCiHGNC:30844. SEZ6L2.
HPAiHPA064471.
MIMi616667. gene.
neXtProtiNX_Q6UXD5.
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

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: September 7, 2016
This is version 105 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.