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UniProtKB - Q6UXD5 (SE6L2_HUMAN)

Entry version 131 (02 Dec 2020)
Sequence version 2 (31 May 2011)
Previous versions | rss
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q6UXD5

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q6UXD5

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Seizure 6-like protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SEZ6L2
Synonyms:PSK
ORF Names:UNQ1903/PRO4349
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000174938.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:30844, SEZ6L2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		616667, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6UXD5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini28 – 844ExtracellularSequence analysisAdd BLAST817
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei845 – 865HelicalSequence analysisAdd BLAST21
Topological domaini866 – 910CytoplasmicSequence analysisAdd BLAST45

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		26470

Open Targets

More...OpenTargetsi		ENSG00000174938

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134924025

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6UXD5, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SEZ6L2

Domain mapping of disease mutations (DMDM)

More...DMDMi		334302856

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 271 PublicationAdd BLAST27
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000033388828 – 910Seizure 6-like protein 2Add BLAST883

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi173 ↔ 202By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi176N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi222N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi247N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi290 ↔ 330By similarity
Disulfide bondi316 ↔ 345By similarity
Glycosylationi332N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi349 ↔ 376By similarity
Glycosylationi355N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi373N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi464 ↔ 508By similarity
Glycosylationi473N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi491 ↔ 523By similarity
Glycosylationi517N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi527 ↔ 553By similarity
Glycosylationi641N-linked (GlcNAc...) asparagineSequence 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

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-1515

Encyclopedia of Proteome Dynamics

More...EPDi		Q6UXD5

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q6UXD5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q6UXD5

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q6UXD5

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q6UXD5

PeptideAtlas

More...PeptideAtlasi		Q6UXD5

PRoteomics IDEntifications database

More...PRIDEi		Q6UXD5

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		25901
43361
67592 [Q6UXD5-1]
67593 [Q6UXD5-2]
67594 [Q6UXD5-3]
67595 [Q6UXD5-4]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1974, 11 N-Linked glycans (2 sites)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q6UXD5, 14 sites, 3 O-linked glycans (5 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6UXD5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q6UXD5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000174938, Expressed in cerebellum and 207 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q6UXD5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6UXD5, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000174938, Tissue enhanced (brain, pituitary gland)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		117694, 13 interactors

Protein interaction database and analysis system

More...IntActi		Q6UXD5, 10 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000481917

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q6UXD5, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>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
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni41 – 48O-glycosylated at one site8

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi70 – 146Pro-richAdd BLAST77
Compositional biasi153 – 168Thr-richAdd BLAST16

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the SEZ6 family.Curated

Keywords - Domaini

Repeat, Signal, Sushi, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QS53, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160492

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_011474_3_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6UXD5

Database of Orthologous Groups

More...OrthoDBi		126806at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6UXD5

TreeFam database of animal gene trees

More...TreeFami		TF330037

Family and domain databases

Conserved Domains Database

More...CDDi		cd00033, CCP, 5 hits
cd00041, CUB, 3 hits

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.120.290, 3 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000859, CUB_dom
IPR035914, Sperma_CUB_dom_sf
IPR035976, Sushi/SCR/CCP_sf
IPR000436, Sushi_SCR_CCP_dom

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00431, CUB, 1 hit
PF00084, Sushi, 5 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00032, CCP, 5 hits
SM00042, CUB, 3 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF49854, SSF49854, 3 hits
SSF57535, SSF57535, 5 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS01180, CUB, 3 hits
PS50923, SUSHI, 5 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

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

Show »
Length:809
Mass (Da):86,861
Checksum:i04C650826BAF0268
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WYL5A0A087WYL5_HUMAN
Seizure 6-like protein 2
SEZ6L2
923Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BN26H3BN26_HUMAN
Seizure 6-like protein 2
SEZ6L2
303Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L111I3L111_HUMAN
Seizure 6-like protein 2
SEZ6L2
80Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06520574R → P3 PublicationsCorresponds to variant dbSNP:rs11649499Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10658.1 [Q6UXD5-3]
CCDS10659.1 [Q6UXD5-1]
CCDS45458.1 [Q6UXD5-6]
CCDS58447.1 [Q6UXD5-5]

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000308713; ENSP00000312550; ENSG00000174938 [Q6UXD5-1]
ENST00000346932; ENSP00000319215; ENSG00000174938 [Q6UXD5-6]
ENST00000350527; ENSP00000310206; ENSG00000174938 [Q6UXD5-3]
ENST00000537485; ENSP00000439412; ENSG00000174938 [Q6UXD5-5]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		26470

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:26470

UCSC genome browser

More...UCSCi		uc002dup.5, human [Q6UXD5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi117694, 13 interactors
IntActiQ6UXD5, 10 interactors
STRINGi9606.ENSP00000481917

PTM databases

GlyConnecti1974, 11 N-Linked glycans (2 sites)
GlyGeniQ6UXD5, 14 sites, 3 O-linked glycans (5 sites)
iPTMnetiQ6UXD5
PhosphoSitePlusiQ6UXD5

Polymorphism and mutation databases

BioMutaiSEZ6L2
DMDMi334302856

Proteomic databases

CPTACiCPTAC-1515
EPDiQ6UXD5
jPOSTiQ6UXD5
MassIVEiQ6UXD5
MaxQBiQ6UXD5
PaxDbiQ6UXD5
PeptideAtlasiQ6UXD5
PRIDEiQ6UXD5
ProteomicsDBi25901
43361
67592 [Q6UXD5-1]
67593 [Q6UXD5-2]
67594 [Q6UXD5-3]
67595 [Q6UXD5-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		54161, 82 antibodies

The DNASU plasmid repository

More...DNASUi		26470

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

Comparative Toxicogenomics Database

More...CTDi		26470
DisGeNETi26470
EuPathDBiHostDB:ENSG00000174938.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		SEZ6L2
HGNCiHGNC:30844, SEZ6L2
HPAiENSG00000174938, Tissue enhanced (brain, pituitary gland)
MIMi616667, gene
neXtProtiNX_Q6UXD5
OpenTargetsiENSG00000174938
PharmGKBiPA134924025

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QS53, Eukaryota
GeneTreeiENSGT00940000160492
HOGENOMiCLU_011474_3_0_1
InParanoidiQ6UXD5
OrthoDBi126806at2759
PhylomeDBiQ6UXD5
TreeFamiTF330037

Enzyme and pathway databases

PathwayCommonsiQ6UXD5
SignaLinkiQ6UXD5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		26470, 7 hits in 842 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SEZ6L2, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		26470
PharosiQ6UXD5, Tbio

Protein Ontology

More...PROi		PR:Q6UXD5
RNActiQ6UXD5, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000174938, Expressed in cerebellum and 207 other tissues
ExpressionAtlasiQ6UXD5, baseline and differential
GenevisibleiQ6UXD5, HS

Family and domain databases

CDDicd00033, CCP, 5 hits
cd00041, CUB, 3 hits
Gene3Di2.60.120.290, 3 hits
InterProiView protein in InterPro
IPR000859, CUB_dom
IPR035914, Sperma_CUB_dom_sf
IPR035976, Sushi/SCR/CCP_sf
IPR000436, Sushi_SCR_CCP_dom
PfamiView protein in Pfam
PF00431, CUB, 1 hit
PF00084, Sushi, 5 hits
SMARTiView protein in SMART
SM00032, CCP, 5 hits
SM00042, CUB, 3 hits
SUPFAMiSSF49854, SSF49854, 3 hits
SSF57535, SSF57535, 5 hits
PROSITEiView protein in PROSITE
PS01180, CUB, 3 hits
PS50923, SUSHI, 5 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSE6L2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6UXD5
Secondary accession number(s): B7Z1N0
, F5H293, H7BXQ6, Q9BW82, Q9UJ45, Q9UJ46, Q9UJ47
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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