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Q9BYH1 (SE6L1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 98. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | 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
Gene names
Name:SEZ6L
Synonyms:KIAA0927
ORF Names:UNQ2542/PRO6094
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1024 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

Endoplasmic reticulum membrane; Single-pass type I membrane protein By similarity.

Tissue specificity

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

Sequence similarities

Belongs to the SEZ6 family.

Contains 3 CUB domains.

Contains 5 Sushi (CCP/SCR) domains.

Sequence caution

The sequence BAA76771.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]

Note: Experimental confirmation may be lacking for some isoforms.
Isoform 4 (identifier: Q9BYH1-1)

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 1 (identifier: Q9BYH1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-227: Missing.
     868-944: Missing.
     1016-1024: ETREYEVSI → GTQKV
Isoform 2 (identifier: Q9BYH1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-227: Missing.
     943-943: Missing.
     1016-1024: ETREYEVSI → GTQKV
Isoform 3 (identifier: Q9BYH1-4)

The sequence of this isoform differs from the canonical sequence as follows:
     803-867: IMYCTDPGEVDHSTRLISDPVLLVGTTIQYTCNPGFVLEGSSLLTCYSRETGTPIWTSRLPHCVS → T
     933-943: Missing.
Isoform 5 (identifier: Q9BYH1-5)

The sequence of this isoform differs from the canonical sequence as follows:
     867-943: SEESLACDNP...QDSFEHALEV → L
Isoform 6 (identifier: Q9BYH1-6)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2828 Potential
Chain29 – 1024996Seizure 6-like protein
PRO_0000022323

Regions

Topological domain29 – 958930Extracellular Potential
Transmembrane959 – 97921Helical; Potential
Topological domain980 – 102445Cytoplasmic Potential
Domain281 – 389109CUB 1
Domain391 – 45060Sushi 1
Domain452 – 562111CUB 2
Domain565 – 62662Sushi 2
Domain628 – 739112CUB 3
Domain743 – 80260Sushi 3
Domain804 – 86764Sushi 4
Domain871 – 93262Sushi 5

Amino acid modifications

Glycosylation3111N-linked (GlcNAc...) Potential
Glycosylation3281N-linked (GlcNAc...) Potential
Glycosylation3501N-linked (GlcNAc...) Potential
Glycosylation4351N-linked (GlcNAc...) Potential
Glycosylation4581N-linked (GlcNAc...) Potential
Glycosylation4741N-linked (GlcNAc...) Potential
Glycosylation5141N-linked (GlcNAc...) Potential
Glycosylation5761N-linked (GlcNAc...) Potential
Glycosylation6181N-linked (GlcNAc...) Potential
Glycosylation6741N-linked (GlcNAc...) Potential
Glycosylation7421N-linked (GlcNAc...) Potential
Disulfide bond281 ↔ 308 By similarity
Disulfide bond393 ↔ 433 By similarity
Disulfide bond419 ↔ 448 By similarity
Disulfide bond567 ↔ 609 By similarity
Disulfide bond594 ↔ 624 By similarity
Disulfide bond745 ↔ 787 By similarity
Disulfide bond773 ↔ 800 By similarity
Disulfide bond806 ↔ 848 By similarity
Disulfide bond834 ↔ 865 By similarity
Disulfide bond873 ↔ 915 By similarity
Disulfide bond901 ↔ 930 By similarity

Natural variations

Alternative sequence1 – 227227Missing in isoform 1 and isoform 2.
VSP_003976
Alternative sequence803 – 86765IMYCT…PHCVS → T in isoform 3.
VSP_003981
Alternative sequence867 – 94377SEESL…HALEV → L in isoform 5.
VSP_013022
Alternative sequence868 – 94477Missing in isoform 1.
VSP_003977
Alternative sequence933 – 94311Missing in isoform 3.
VSP_003978
Alternative sequence9431Missing in isoform 2 and isoform 6.
VSP_003979
Alternative sequence1016 – 10249ETREYEVSI → GTQKV in isoform 1 and isoform 2.
VSP_003980
Natural variant521P → L.
Corresponds to variant rs6004989 [ dbSNP | Ensembl ].
VAR_043338
Natural variant1851W → L.
Corresponds to variant rs137203 [ dbSNP | Ensembl ].
VAR_024348
Natural variant4301M → I. Ref.7
Corresponds to variant rs663048 [ dbSNP | Ensembl ].
VAR_020330
Natural variant6711Q → H.
Corresponds to variant rs586542 [ dbSNP | Ensembl ].
VAR_043339

Secondary structure

............. 1024
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 4 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: CBC0679E22C23B6E

FASTA1,024111,782
        10         20         30         40         50         60 
MPAARPPAAG LRGISLFLAL LLGSPAAALE RDALPEGDAS PLGPYLLPSG APERGSPGKE 

        70         80         90        100        110        120 
HPEERVVTAP PSSSQSAEVL GELVLDGTAP SAHHDIPALS PLLPEEARPK HALPPKKKLP 

       130        140        150        160        170        180 
SLKQVNSARK QLRPKATSAA TVQRAGSQPA SQGLDLLSSS TEKPGPPGDP DPIVASEEAS 

       190        200        210        220        230        240 
EVPLWLDRKE SAVPTTPAPL QISPFTSQPY VAHTLPQRPE PGEPGPDMAQ EAPQEDTSPM 

       250        260        270        280        290        300 
ALMDKGENEL TGSASEESQE TTTSTIITTT VITTEQAPAL CSVSFSNPEG YIDSSDYPLL 

       310        320        330        340        350        360 
PLNNFLECTY NVTVYTGYGV ELQVKSVNLS DGELLSIRGV DGPTLTVLAN QTLLVEGQVI 

       370        380        390        400        410        420 
RSPTNTISVY FRTFQDDGLG TFQLHYQAFM LSCNFPRRPD SGDVTVMDLH SGGVAHFHCH 

       430        440        450        460        470        480 
LGYELQGAKM LTCINASKPH WSSQEPICSA PCGGAVHNAT IGRVLSPSYP ENTNGSQFCI 

       490        500        510        520        530        540 
WTIEAPEGQK LHLHFERLLL HDKDRMTVHS GQTNKSALLY DSLQTESVPF EGLLSEGNTI 

       550        560        570        580        590        600 
RIEFTSDQAR AASTFNIRFE AFEKGHCYEP YIQNGNFTTS DPTYNIGTIV EFTCDPGHSL 

       610        620        630        640        650        660 
EQGPAIIECI NVRDPYWNDT EPLCRAMCGG ELSAVAGVVL SPNWPEPYVE GEDCIWKIHV 

       670        680        690        700        710        720 
GEEKRIFLDI QFLNLSNSDI LTIYDGDEVM PHILGQYLGN SGPQKLYSST PDLTIQFHSD 

       730        740        750        760        770        780 
PAGLIFGKGQ GFIMNYIEVS RNDSCSDLPE IQNGWKTTSH TELVRGARIT YQCDPGYDIV 

       790        800        810        820        830        840 
GSDTLTCQWD LSWSSDPPFC EKIMYCTDPG EVDHSTRLIS DPVLLVGTTI QYTCNPGFVL 

       850        860        870        880        890        900 
EGSSLLTCYS RETGTPIWTS RLPHCVSEES LACDNPGLPE NGYQILYKRL YLPGESLTFM 

       910        920        930        940        950        960 
CYEGFELMGE VTIRCILGQP SHWNGPLPVC KVNQDSFEHA LEVAEAAAET SLEGGNMALA 

       970        980        990       1000       1010       1020 
IFIPVLIISL LLGGAYIYIT RCRYYSNLRL PLMYSHPYSQ ITVETEFDNP IYETGETREY 


EVSI 

« Hide

Isoform 1 [UniParc].

Checksum: 2D7EB9BFA5255AE6
Show »

FASTA71679,048
Isoform 2 [UniParc].

Checksum: 06B56E639B87C01A
Show »

FASTA79287,593
Isoform 3 [UniParc].

Checksum: 64FACD9450B3F6F3
Show »

FASTA949103,497
Isoform 5 [UniParc].

Checksum: AC7FE35AA8986926
Show »

FASTA948103,234
Isoform 6 [UniParc].

Checksum: F944A3C541880D3A
Show »

FASTA1,023111,683

References

« Hide 'large scale' references
[1]"Identification of a 428-kb homozygously deleted region disrupting the SEZ6L gene at 22q12.1 in a lung cancer cell line."
Nishioka M., Kohno T., Takahashi M., Niki T., Yamada T., Sone S., Yokota J.
Oncogene 19:6251-6260(2000) [PubMed: 11175339] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
Tissue: Brain.
[2]"Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 6:63-70(1999) [PubMed: 10231032] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Brain.
[3]"Reevaluating human gene annotation: a second-generation analysis of chromosome 22."
Collins J.E., Goward M.E., Cole C.G., Smink L.J., Huckle E.J., Knowles S., Bye J.M., Beare D.M., Dunham I.
Genome Res. 13:27-36(2003) [PubMed: 12529303] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Fetal brain.
[4]"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: 12975309] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
[5]"A genome annotation-driven approach to cloning the human ORFeome."
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I.
Genome Biol. 5:R84.1-R84.11(2004) [PubMed: 15461802] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
[6]"The DNA sequence of human chromosome 22."
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
Nature 402:489-495(1999) [PubMed: 10591208] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ILE-430.
Tissue: Brain.
[8]"A genomic screen for genes upregulated by demethylation and histone deacetylase inhibition in human colorectal cancer."
Suzuki H., Gabrielson E., Chen W., Anbazhagan R., Van Engeland M., Weijenberg M.P., Herman J.G., Baylin S.B.
Nat. Genet. 31:141-149(2002) [PubMed: 11992124] [Abstract]
Cited for: GENE EXPRESSION REGULATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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, AL023513, AL078460 Genomic DNA. Translation: CAI17997.1.
AL078460, AL022337, AL023513 Genomic DNA. Translation: CAI20266.1.
AL023513, AL022337, AL078460 Genomic DNA. Translation: CAI19980.1.
AL023513, AL022337, AL078460 Genomic DNA. Translation: CAQ08922.1.
AL023513, AL022337, AL078460 Genomic DNA. Translation: CAQ08923.1.
AL078460, AL022337, AL023513 Genomic DNA. Translation: CAQ08975.1.
AL078460, AL022337, AL023513 Genomic DNA. Translation: CAQ08976.1.
AL022337, AL023513, AL078460 Genomic DNA. Translation: CAQ10786.1.
AL022337, AL023513, AL078460 Genomic DNA. Translation: CAQ10787.1.
BC126115 mRNA. Translation: AAI26116.1.
IPIIPI00157417.
IPI00163788.
IPI00220333.
IPI00220334.
IPI00554736.
IPI00879665.
RefSeqNP_001171702.1. NM_001184773.1.
NP_001171703.1. NM_001184774.1.
NP_001171704.1. NM_001184775.1.
NP_001171705.1. NM_001184776.1.
NP_001171706.1. NM_001184777.1.
NP_066938.2. NM_021115.4.
UniGeneHs.194766.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2YRANMR-A745-802[»]
ProteinModelPortalQ9BYH1.
SMRQ9BYH1. Positions 280-933.
ModBaseSearch...

Protein-protein interaction databases

STRINGQ9BYH1.

Polymorphism databases

DMDM22002000.

Proteomic databases

PRIDEQ9BYH1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000248933; ENSP00000248933; ENSG00000100095.
GeneID23544.
KEGGhsa:23544.
UCSCuc003acb.1. human.
uc003acd.1. human.
uc003ace.1. human.
uc003acf.1. human.
uc010gvc.1. human.

Organism-specific databases

CTD23544.
GeneCardsGC22P026565.
H-InvDBHIX0016322.
HGNCHGNC:10763. SEZ6L.
MIM607021. gene.
neXtProtNX_Q9BYH1.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG14999.
GeneTreeENSGT00600000084043.
HOVERGENHBG057885.
InParanoidQ9BYH1.
OMAMTVHSGQ.
PhylomeDBQ9BYH1.

Gene expression databases

ArrayExpressQ9BYH1.
BgeeQ9BYH1.
GenevestigatorQ9BYH1.
GermOnlineENSG00000100095. Homo sapiens.

Family and domain databases

InterProIPR016060. Complement_control_module.
IPR000859. CUB.
IPR000436. Sushi_SCR_CCP.
[Graphical view]
Gene3DG3DSA:2.10.70.10. Complement_control_module. 5 hits.
G3DSA:2.60.120.290. CUB. 3 hits.
PfamPF00431. CUB. 3 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

NextBio46072.
SOURCESearch...

Entry information

Entry nameSE6L1_HUMAN
AccessionPrimary (citable) accession number: Q9BYH1
Secondary accession number(s): A0AUW7 expand/collapse secondary AC list , B0QYG4, B0QYG5, O95917, Q5THY5, Q6IBZ4, Q6UXD4, Q9NUI3, Q9NUI4, Q9NUI5, Q9Y2E1, Q9Y3J6
Entry history
Integrated into UniProtKB/Swiss-Prot: July 26, 2002
Last sequence update: June 1, 2001
Last modified: January 25, 2012
This is version 98 of the entry and version 1 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 22

Human chromosome 22: 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

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families