UniProtKB - Q6UXD5 (SE6L2_HUMAN)
Protein
Seizure 6-like protein 2
Gene
SEZ6L2
Organism
Homo sapiens (Human)
Status
Functioni
May contribute to specialized endoplasmic reticulum functions in neurons.By similarity
Miscellaneous
May serve as a prognostic marker for lung cancers.
Enzyme and pathway databases
PathwayCommonsi | Q6UXD5 |
SignaLinki | Q6UXD5 |
Names & Taxonomyi
Protein namesi | Recommended name: Seizure 6-like protein 2 |
Gene namesi | Name:SEZ6L2 Synonyms:PSK ORF Names:UNQ1903/PRO4349 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000174938.14 |
HGNCi | HGNC:30844, SEZ6L2 |
MIMi | 616667, gene |
neXtProti | NX_Q6UXD5 |
Subcellular locationi
Plasma membrane
- Cell membrane 1 Publication; Single-pass type I membrane protein 1 Publication
Endoplasmic reticulum
- Endoplasmic reticulum membrane By similarity; Single-pass type I membrane protein By similarity
Note: Detected on cell surface of lung-cancer.
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: UniProtKB-SubCell
Plasma Membrane
- plasma membrane Source: UniProtKB-SubCell
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 28 – 844 | ExtracellularSequence analysisAdd BLAST | 817 | |
Transmembranei | 845 – 865 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 866 – 910 | CytoplasmicSequence analysisAdd BLAST | 45 |
Keywords - Cellular componenti
Cell membrane, Endoplasmic reticulum, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 26470 |
OpenTargetsi | ENSG00000174938 |
PharmGKBi | PA134924025 |
Miscellaneous databases
Pharosi | Q6UXD5, Tbio |
Polymorphism and mutation databases
BioMutai | SEZ6L2 |
DMDMi | 334302856 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 27 | 1 PublicationAdd BLAST | 27 | |
ChainiPRO_0000333888 | 28 – 910 | Seizure 6-like protein 2Add BLAST | 883 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Disulfide bondi | 173 ↔ 202 | By similarity | ||
Glycosylationi | 176 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 222 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 247 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 290 ↔ 330 | By similarity | ||
Disulfide bondi | 316 ↔ 345 | By similarity | ||
Glycosylationi | 332 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 349 ↔ 376 | By similarity | ||
Glycosylationi | 355 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 373 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 464 ↔ 508 | By similarity | ||
Glycosylationi | 473 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 491 ↔ 523 | By similarity | ||
Glycosylationi | 517 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 527 ↔ 553 | By similarity | ||
Glycosylationi | 641 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 644 ↔ 686 | By similarity | ||
Disulfide bondi | 672 ↔ 699 | By similarity | ||
Disulfide bondi | 705 ↔ 747 | By similarity | ||
Disulfide bondi | 733 ↔ 764 | By similarity | ||
Disulfide bondi | 771 ↔ 813 | By similarity | ||
Disulfide bondi | 799 ↔ 828 | By similarity |
Post-translational modificationi
O-glycosylated with core 1 or possibly core 8 glycans.1 Publication
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
CPTACi | CPTAC-1515 |
EPDi | Q6UXD5 |
jPOSTi | Q6UXD5 |
MassIVEi | Q6UXD5 |
MaxQBi | Q6UXD5 |
PaxDbi | Q6UXD5 |
PeptideAtlasi | Q6UXD5 |
PRIDEi | Q6UXD5 |
ProteomicsDBi | 25901 43361 67592 [Q6UXD5-1] 67593 [Q6UXD5-2] 67594 [Q6UXD5-3] 67595 [Q6UXD5-4] |
PTM databases
GlyConnecti | 1974, 11 N-Linked glycans (2 sites) |
GlyGeni | Q6UXD5, 14 sites, 3 O-linked glycans (5 sites) |
iPTMneti | Q6UXD5 |
PhosphoSitePlusi | Q6UXD5 |
Expressioni
Inductioni
Increased expression in the majority of primary lung cancers and lung-cell lines tested.1 Publication
Gene expression databases
Bgeei | ENSG00000174938, Expressed in cerebellum and 207 other tissues |
ExpressionAtlasi | Q6UXD5, baseline and differential |
Genevisiblei | Q6UXD5, HS |
Organism-specific databases
HPAi | ENSG00000174938, Tissue enhanced (brain, pituitary gland) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 117694, 13 interactors |
IntActi | Q6UXD5, 10 interactors |
STRINGi | 9606.ENSP00000481917 |
Miscellaneous databases
RNActi | Q6UXD5, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 173 – 286 | CUB 1PROSITE-ProRule annotationAdd BLAST | 114 | |
Domaini | 288 – 347 | Sushi 1PROSITE-ProRule annotationAdd BLAST | 60 | |
Domaini | 349 – 459 | CUB 2PROSITE-ProRule annotationAdd BLAST | 111 | |
Domaini | 462 – 525 | Sushi 2PROSITE-ProRule annotationAdd BLAST | 64 | |
Domaini | 527 – 638 | CUB 3PROSITE-ProRule annotationAdd BLAST | 112 | |
Domaini | 642 – 701 | Sushi 3PROSITE-ProRule annotationAdd BLAST | 60 | |
Domaini | 703 – 766 | Sushi 4PROSITE-ProRule annotationAdd BLAST | 64 | |
Domaini | 769 – 830 | Sushi 5PROSITE-ProRule annotationAdd BLAST | 62 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 41 – 48 | O-glycosylated at one site | 8 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 70 – 146 | Pro-richAdd BLAST | 77 | |
Compositional biasi | 153 – 168 | Thr-richAdd BLAST | 16 |
Sequence similaritiesi
Belongs to the SEZ6 family.Curated
Keywords - Domaini
Repeat, Signal, Sushi, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QS53, Eukaryota |
GeneTreei | ENSGT00940000160492 |
HOGENOMi | CLU_011474_3_0_1 |
InParanoidi | Q6UXD5 |
OrthoDBi | 126806at2759 |
PhylomeDBi | Q6UXD5 |
TreeFami | TF330037 |
Family and domain databases
CDDi | cd00033, CCP, 5 hits cd00041, CUB, 3 hits |
Gene3Di | 2.60.120.290, 3 hits |
InterProi | View protein in InterPro IPR000859, CUB_dom IPR035914, Sperma_CUB_dom_sf IPR035976, Sushi/SCR/CCP_sf IPR000436, Sushi_SCR_CCP_dom |
Pfami | View protein in Pfam PF00431, CUB, 1 hit PF00084, Sushi, 5 hits |
SMARTi | View protein in SMART SM00032, CCP, 5 hits SM00042, CUB, 3 hits |
SUPFAMi | SSF49854, SSF49854, 3 hits SSF57535, SSF57535, 5 hits |
PROSITEi | View protein in PROSITE PS01180, CUB, 3 hits PS50923, SUSHI, 5 hits |
s (6+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 6 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 6 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q6UXD5-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A087WYL5 | A0A087WYL5_HUMAN | Seizure 6-like protein 2 | SEZ6L2 | 923 | Annotation score: | ||
H3BN26 | H3BN26_HUMAN | Seizure 6-like protein 2 | SEZ6L2 | 303 | Annotation score: | ||
I3L111 | I3L111_HUMAN | Seizure 6-like protein 2 | SEZ6L2 | 80 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 228 | E → G in BAH11566 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 398 | D → G in BAH11566 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 494 | G → R in BAH11566 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_065205 | 74 | R → P3 PublicationsCorresponds to variant dbSNP:rs11649499Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_044739 | 27 – 70 | Missing in isoform 5. 1 PublicationAdd BLAST | 44 | |
Alternative sequenceiVSP_033595 | 72 – 141 | Missing in isoform 2, isoform 3 and isoform 4. 1 PublicationAdd BLAST | 70 | |
Alternative sequenceiVSP_045702 | 171 – 284 | Missing in isoform 6. 1 PublicationAdd BLAST | 114 | |
Alternative sequenceiVSP_033597 | 651 – 910 | Missing in isoform 4. 1 PublicationAdd BLAST | 260 | |
Alternative sequenceiVSP_045703 | 829 | K → KVAYEELLDNRKLE in isoform 6. 1 Publication | 1 | |
Alternative sequenceiVSP_033596 | 830 | V → VAYEELLDNRKLEV in isoform 3 and isoform 5. 2 Publications | 1 |
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 |
CCDSi | CCDS10658.1 [Q6UXD5-3] CCDS10659.1 [Q6UXD5-1] CCDS45458.1 [Q6UXD5-6] CCDS58447.1 [Q6UXD5-5] |
RefSeqi | NP_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] |
Genome annotation databases
Ensembli | ENST00000308713; ENSP00000312550; ENSG00000174938 [Q6UXD5-1] ENST00000346932; ENSP00000319215; ENSG00000174938 [Q6UXD5-6] ENST00000350527; ENSP00000310206; ENSG00000174938 [Q6UXD5-3] ENST00000537485; ENSP00000439412; ENSG00000174938 [Q6UXD5-5] |
GeneIDi | 26470 |
KEGGi | hsa:26470 |
UCSCi | uc002dup.5, human [Q6UXD5-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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 |
CCDSi | CCDS10658.1 [Q6UXD5-3] CCDS10659.1 [Q6UXD5-1] CCDS45458.1 [Q6UXD5-6] CCDS58447.1 [Q6UXD5-5] |
RefSeqi | NP_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] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 117694, 13 interactors |
IntActi | Q6UXD5, 10 interactors |
STRINGi | 9606.ENSP00000481917 |
PTM databases
GlyConnecti | 1974, 11 N-Linked glycans (2 sites) |
GlyGeni | Q6UXD5, 14 sites, 3 O-linked glycans (5 sites) |
iPTMneti | Q6UXD5 |
PhosphoSitePlusi | Q6UXD5 |
Polymorphism and mutation databases
BioMutai | SEZ6L2 |
DMDMi | 334302856 |
Proteomic databases
CPTACi | CPTAC-1515 |
EPDi | Q6UXD5 |
jPOSTi | Q6UXD5 |
MassIVEi | Q6UXD5 |
MaxQBi | Q6UXD5 |
PaxDbi | Q6UXD5 |
PeptideAtlasi | Q6UXD5 |
PRIDEi | Q6UXD5 |
ProteomicsDBi | 25901 43361 67592 [Q6UXD5-1] 67593 [Q6UXD5-2] 67594 [Q6UXD5-3] 67595 [Q6UXD5-4] |
Protocols and materials databases
Antibodypediai | 54161, 82 antibodies |
DNASUi | 26470 |
Genome annotation databases
Ensembli | ENST00000308713; ENSP00000312550; ENSG00000174938 [Q6UXD5-1] ENST00000346932; ENSP00000319215; ENSG00000174938 [Q6UXD5-6] ENST00000350527; ENSP00000310206; ENSG00000174938 [Q6UXD5-3] ENST00000537485; ENSP00000439412; ENSG00000174938 [Q6UXD5-5] |
GeneIDi | 26470 |
KEGGi | hsa:26470 |
UCSCi | uc002dup.5, human [Q6UXD5-1] |
Organism-specific databases
CTDi | 26470 |
DisGeNETi | 26470 |
EuPathDBi | HostDB:ENSG00000174938.14 |
GeneCardsi | SEZ6L2 |
HGNCi | HGNC:30844, SEZ6L2 |
HPAi | ENSG00000174938, Tissue enhanced (brain, pituitary gland) |
MIMi | 616667, gene |
neXtProti | NX_Q6UXD5 |
OpenTargetsi | ENSG00000174938 |
PharmGKBi | PA134924025 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QS53, Eukaryota |
GeneTreei | ENSGT00940000160492 |
HOGENOMi | CLU_011474_3_0_1 |
InParanoidi | Q6UXD5 |
OrthoDBi | 126806at2759 |
PhylomeDBi | Q6UXD5 |
TreeFami | TF330037 |
Enzyme and pathway databases
PathwayCommonsi | Q6UXD5 |
SignaLinki | Q6UXD5 |
Miscellaneous databases
BioGRID-ORCSi | 26470, 7 hits in 842 CRISPR screens |
ChiTaRSi | SEZ6L2, human |
GenomeRNAii | 26470 |
Pharosi | Q6UXD5, Tbio |
PROi | PR:Q6UXD5 |
RNActi | Q6UXD5, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000174938, Expressed in cerebellum and 207 other tissues |
ExpressionAtlasi | Q6UXD5, baseline and differential |
Genevisiblei | Q6UXD5, HS |
Family and domain databases
CDDi | cd00033, CCP, 5 hits cd00041, CUB, 3 hits |
Gene3Di | 2.60.120.290, 3 hits |
InterProi | View protein in InterPro IPR000859, CUB_dom IPR035914, Sperma_CUB_dom_sf IPR035976, Sushi/SCR/CCP_sf IPR000436, Sushi_SCR_CCP_dom |
Pfami | View protein in Pfam PF00431, CUB, 1 hit PF00084, Sushi, 5 hits |
SMARTi | View protein in SMART SM00032, CCP, 5 hits SM00042, CUB, 3 hits |
SUPFAMi | SSF49854, SSF49854, 3 hits SSF57535, SSF57535, 5 hits |
PROSITEi | View protein in PROSITE PS01180, CUB, 3 hits PS50923, SUSHI, 5 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SE6L2_HUMAN | |
Accessioni | Q6UXD5Primary (citable) accession number: Q6UXD5 Secondary accession number(s): B7Z1N0 Q9UJ47 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 20, 2008 |
Last sequence update: | May 31, 2011 | |
Last modified: | December 2, 2020 | |
This is version 131 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations