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Q6UXD5 (SE6L2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 29, 2013. Version 75. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Seizure 6-like protein 2
Gene names
Name:SEZ6L2
Synonyms:PSK
ORF Names:UNQ1903/PRO4349
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length910 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein By similarity. Note: Detected on cell surface of lung-cancer. Ref.6

Induction

Increased expression in the majority of primary lung cancers and lung-cell lines tested. Ref.6

Post-translational modification

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

Miscellaneous

May serve as a prognostic marker for lung cancers.

Sequence similarities

Belongs to the SEZ6 family.

Contains 3 CUB domains.

Contains 5 Sushi (CCP/SCR) domains.

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6UXD5-1)

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.
Isoform 2 (identifier: Q6UXD5-2)

Also known as: psk-3;

The sequence of this isoform differs from the canonical sequence as follows:
     72-141: Missing.
Isoform 3 (identifier: Q6UXD5-3)

Also known as: psk-1;

The sequence of this isoform differs from the canonical sequence as follows:
     72-141: Missing.
     830-830: V → VAYEELLDNRKLEV
Isoform 4 (identifier: Q6UXD5-4)

Also known as: psk-2;

The sequence of this isoform differs from the canonical sequence as follows:
     72-141: Missing.
     651-910: Missing.
Isoform 5 (identifier: Q6UXD5-5)

The sequence of this isoform differs from the canonical sequence as follows:
     27-70: Missing.
     830-830: V → VAYEELLDNRKLEV
Note: No experimental confirmation available.
Isoform 6 (identifier: Q6UXD5-6)

The sequence of this isoform differs from the canonical sequence as follows:
     171-284: Missing.
     829-829: K → KVAYEELLDNRKLE
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2727
Chain28 – 910883Seizure 6-like protein 2
PRO_0000333888

Regions

Topological domain28 – 844817Extracellular Potential
Transmembrane845 – 86521Helical; Potential
Topological domain866 – 91045Cytoplasmic Potential
Domain173 – 286114CUB 1
Domain288 – 34760Sushi 1
Domain349 – 459111CUB 2
Domain462 – 52564Sushi 2
Domain527 – 638112CUB 3
Domain642 – 70160Sushi 3
Domain703 – 76664Sushi 4
Domain769 – 83062Sushi 5
Region41 – 488O-glycosylated at one site
Compositional bias70 – 14677Pro-rich
Compositional bias153 – 16816Thr-rich

Amino acid modifications

Glycosylation1761N-linked (GlcNAc...) Potential
Glycosylation2221N-linked (GlcNAc...) Potential
Glycosylation2471N-linked (GlcNAc...) Potential
Glycosylation3321N-linked (GlcNAc...) Potential
Glycosylation3551N-linked (GlcNAc...) Potential
Glycosylation3731N-linked (GlcNAc...) Potential
Glycosylation4731N-linked (GlcNAc...) Potential
Glycosylation5171N-linked (GlcNAc...) Potential
Glycosylation6411N-linked (GlcNAc...) Potential
Disulfide bond173 ↔ 202 By similarity
Disulfide bond290 ↔ 330 By similarity
Disulfide bond316 ↔ 345 By similarity
Disulfide bond349 ↔ 376 By similarity
Disulfide bond464 ↔ 508 By similarity
Disulfide bond491 ↔ 523 By similarity
Disulfide bond527 ↔ 553 By similarity
Disulfide bond644 ↔ 686 By similarity
Disulfide bond672 ↔ 699 By similarity
Disulfide bond705 ↔ 747 By similarity
Disulfide bond733 ↔ 764 By similarity
Disulfide bond771 ↔ 813 By similarity
Disulfide bond799 ↔ 828 By similarity

Natural variations

Alternative sequence27 – 7044Missing in isoform 5.
VSP_044739
Alternative sequence72 – 14170Missing in isoform 2, isoform 3 and isoform 4.
VSP_033595
Alternative sequence171 – 284114Missing in isoform 6.
VSP_045702
Alternative sequence651 – 910260Missing in isoform 4.
VSP_033597
Alternative sequence8291K → KVAYEELLDNRKLE in isoform 6.
VSP_045703
Alternative sequence8301V → VAYEELLDNRKLEV in isoform 3 and isoform 5.
VSP_033596
Natural variant741R → P. Ref.2 Ref.3 Ref.5
Corresponds to variant rs11649499 [ dbSNP | Ensembl ].
VAR_065205

Experimental info

Sequence conflict2281E → G in BAH11566. Ref.3
Sequence conflict3981D → G in BAH11566. Ref.3
Sequence conflict4941G → R in BAH11566. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 31, 2011. Version 2.
Checksum: 26CC6E04170A5AE4

FASTA91097,560
        10         20         30         40         50         60 
MGTPRAQHPP PPQLLFLILL SCPWIQGLPL KEEEILPEPG SETPTVASEA LAELLHGALL 

        70         80         90        100        110        120 
RRGPEMGYLP GSDRDPTLAT PPAGQTLAVP SLPRATEPGT GPLTTAVTPN GVRGAGPTAP 

       130        140        150        160        170        180 
ELLTPPPGTT APPPPSPASP GPPLGPEGGE EETTTTIITT TTVTTTVTSP VLCNNNISEG 

       190        200        210        220        230        240 
EGYVESPDLG SPVSRTLGLL DCTYSIHVYP GYGIEIQVQT LNLSQEEELL VLAGGGSPGL 

       250        260        270        280        290        300 
APRLLANSSM LGEGQVLRSP TNRLLLHFQS PRVPRGGGFR IHYQAYLLSC GFPPRPAHGD 

       310        320        330        340        350        360 
VSVTDLHPGG TATFHCDSGY QLQGEETLIC LNGTRPSWNG ETPSCMASCG GTIHNATLGR 

       370        380        390        400        410        420 
IVSPEPGGAV GPNLTCRWVI EAAEGRRLHL HFERVSLDED NDRLMVRSGG SPLSPVIYDS 

       430        440        450        460        470        480 
DMDDVPERGL ISDAQSLYVE LLSETPANPL LLSLRFEAFE EDRCFAPFLA HGNVTTTDPE 

       490        500        510        520        530        540 
YRPGALATFS CLPGYALEPP GPPNAIECVD PTEPHWNDTE PACKAMCGGE LSEPAGVVLS 

       550        560        570        580        590        600 
PDWPQSYSPG QDCVWGVHVQ EEKRILLQVE ILNVREGDML TLFDGDGPSA RVLAQLRGPQ 

       610        620        630        640        650        660 
PRRRLLSSGP DLTLQFQAPP GPPNPGLGQG FVLHFKEVPR NDTCPELPPP EWGWRTASHG 

       670        680        690        700        710        720 
DLIRGTVLTY QCEPGYELLG SDILTCQWDL SWSAAPPACQ KIMTCADPGE IANGHRTASD 

       730        740        750        760        770        780 
AGFPVGSHVQ YRCLPGYSLE GAAMLTCYSR DTGTPKWSDR VPKCALKYEP CLNPGVPENG 

       790        800        810        820        830        840 
YQTLYKHHYQ AGESLRFFCY EGFELIGEVT ITCVPGHPSQ WTSQPPLCKV TQTTDPSRQL 

       850        860        870        880        890        900 
EGGNLALAIL LPLGLVIVLG SGVYIYYTKL QGKSLFGFSG SHSYSPITVE SDFSNPLYEA 

       910 
GDTREYEVSI 

« Hide

Isoform 2 (psk-3) [UniParc].

Checksum: A160F0B6FCF0E65A
Show »

FASTA84090,882
Isoform 3 (psk-1) [UniParc].

Checksum: 33B4B234056492CF
Show »

FASTA85392,455
Isoform 4 (psk-2) [UniParc].

Checksum: 22DD0E71DBDB184D
Show »

FASTA58062,374
Isoform 5 [UniParc].

Checksum: B22F15363456EBCD
Show »

FASTA87994,469
Isoform 6 [UniParc].

Checksum: 04C650826BAF0268
Show »

FASTA80986,861

References

« Hide 'large scale' references
[1]"Identification of novel seizure-related proteins from the human brain."
Schrotz-King P., King A., Nyborg Nielsen P., Andersen J., Kuster B., Mann M.
Submitted (OCT-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2; 3 AND 4).
[2]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PRO-74.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5), VARIANT PRO-74.
Tissue: Cerebellum.
[4]"The sequence and analysis of duplication-rich human chromosome 16."
Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. expand/collapse author list , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6), VARIANT PRO-74.
Tissue: Brain.
[6]"Characterization of SEZ6L2 cell-surface protein as a novel prognostic marker for lung cancer."
Ishikawa N., Daigo Y., Takano A., Taniwaki M., Kato T., Tanaka S., Yasui W., Takeshima Y., Inai K., Nishimura H., Tsuchiya E., Kohno N., Nakamura Y.
Cancer Sci. 97:737-745(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INDUCTION, SUBCELLULAR LOCATION.
[7]"Enrichment of glycopeptides for glycan structure and attachment site identification."
Nilsson J., Rueetschi U., Halim A., Hesse C., Carlsohn E., Brinkmalm G., Larson G.
Nat. Methods 6:809-811(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS], SIGNAL SEQUENCE CLEAVAGE SITE, STRUCTURE OF CARBOHYDRATES, MASS SPECTROMETRY.
Tissue: Cerebrospinal fluid.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
IPIIPI00018276.
IPI00306470.
IPI00419722.
IPI00645828.
IPI00892924.
IPI01013810.
RefSeqNP_001107571.1. NM_001114099.2.
NP_001107572.1. NM_001114100.2.
NP_001230261.1. NM_001243332.1.
NP_001230262.1. NM_001243333.1.
NP_036542.1. NM_012410.3.
NP_963869.2. NM_201575.3.
UniGeneHs.6314.

3D structure databases

ProteinModelPortalQ6UXD5.
SMRQ6UXD5. Positions 348-459, 469-829.
ModBaseSearch...

Protein-protein interaction databases

IntActQ6UXD5. 5 interactions.
STRING9606.ENSP00000312550.

PTM databases

PhosphoSiteQ6UXD5.

Polymorphism databases

DMDM74749421.

Proteomic databases

PaxDbQ6UXD5.
PRIDEQ6UXD5.

Protocols and materials databases

DNASU26470.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000308713; ENSP00000312550; ENSG00000174938.
ENST00000346932; ENSP00000319215; ENSG00000174938.
ENST00000350527; ENSP00000310206; ENSG00000174938.
ENST00000537485; ENSP00000439412; ENSG00000174938.
GeneID26470.
KEGGhsa:26470.
UCSCuc002dup.4. human.
uc002duq.4. human.
uc002dur.4. human.
uc002dus.4. human.
uc010ved.2. human.

Organism-specific databases

CTD26470.
GeneCardsGC16M029882.
HGNCHGNC:30844. SEZ6L2.
neXtProtNX_Q6UXD5.
PharmGKBPA134924025.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG148801.
HOVERGENHBG057885.
InParanoidQ6UXD5.
OMAGIEIQVQ.
PhylomeDBQ6UXD5.

Enzyme and pathway databases

SignaLinkQ6UXD5.

Gene expression databases

ArrayExpressQ6UXD5.
BgeeQ6UXD5.
CleanExHS_SEZ6L2.
GenevestigatorQ6UXD5.

Family and domain databases

Gene3D2.60.120.290. 3 hits.
InterProIPR000859. CUB_dom.
IPR000436. Sushi_SCR_CCP.
[Graphical view]
PfamPF00431. CUB. 2 hits.
PF00084. Sushi. 5 hits.
[Graphical view]
SMARTSM00032. CCP. 5 hits.
SM00042. CUB. 3 hits.
[Graphical view]
SUPFAMSSF57535. Complement_control_module. 5 hits.
SSF49854. CUB. 3 hits.
PROSITEPS01180. CUB. 3 hits.
PS50923. SUSHI. 5 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi26470.
NextBio48715.

Entry information

Entry nameSE6L2_HUMAN
AccessionPrimary (citable) accession number: Q6UXD5
Secondary accession number(s): B7Z1N0 expand/collapse secondary AC list , F5H293, H7BXQ6, Q9BW82, Q9UJ45, Q9UJ46, Q9UJ47
Entry history
Integrated into UniProtKB/Swiss-Prot: May 20, 2008
Last sequence update: May 31, 2011
Last modified: May 29, 2013
This is version 75 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

SIMILARITY comments

Index of protein domains and families