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Entry version 122 (17 Jun 2020)
Sequence version 2 (10 Jun 2008)
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Protein

Seizure protein 6 homolog

Gene

SEZ6

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 play a role in cell-cell recognition and in neuronal membrane signaling. Seems to be important for the achievement of the necessary balance between dendrite elongation and branching during the elaboration of a complex dendritic arbor. Involved in the development of appropriate excitatory synaptic connectivity (By similarity).By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<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 protein 6 homolog
Short name:
SEZ-6
Short name:
hSEZ-6
<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:SEZ6
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000063015.19

Human Gene Nomenclature Database

More...
HGNCi
HGNC:15955 SEZ6

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
616666 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q53EL9

<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 domaini20 – 925ExtracellularSequence analysisAdd BLAST906
<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>Transmembranei926 – 946HelicalSequence analysisAdd BLAST21
Topological domaini947 – 994CytoplasmicSequence analysisAdd BLAST48

<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, 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
124925

Open Targets

More...
OpenTargetsi
ENSG00000063015

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA38065

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q53EL9 Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SEZ6

Domain mapping of disease mutations (DMDM)

More...
DMDMi
190410975

<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 – 19Sequence analysisAdd BLAST19
<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_000034134620 – 994Seizure protein 6 homologAdd BLAST975

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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>Glycosylationi289N-linked (GlcNAc...) asparagineSequence analysis1
<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 bondi357 ↔ 397By similarity
Disulfide bondi383 ↔ 412By similarity
Glycosylationi399N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi416 ↔ 443By similarity
Glycosylationi436N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi532 ↔ 574By similarity
Glycosylationi541N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi559 ↔ 589By similarity
Disulfide bondi593 ↔ 619By similarity
Disulfide bondi710 ↔ 752By similarity
Disulfide bondi738 ↔ 765By similarity
Disulfide bondi771 ↔ 813By similarity
Disulfide bondi799 ↔ 830By similarity
Disulfide bondi838 ↔ 880By similarity
Disulfide bondi866 ↔ 895By 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

Glycosylated.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q53EL9

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

More...
PaxDbi
Q53EL9

PeptideAtlas

More...
PeptideAtlasi
Q53EL9

PRoteomics IDEntifications database

More...
PRIDEi
Q53EL9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
62438 [Q53EL9-1]
62439 [Q53EL9-2]
62440 [Q53EL9-3]
62441 [Q53EL9-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q53EL9

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

More...
PhosphoSitePlusi
Q53EL9

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000063015 Expressed in cerebellar vermis and 106 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q53EL9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q53EL9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000063015 Tissue enriched (brain)

<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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
125899, 2 interactors

Protein interaction database and analysis system

More...
IntActi
Q53EL9, 3 interactors

Molecular INTeraction database

More...
MINTi
Q53EL9

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000312942

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q53EL9 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q53EL9

Database of comparative protein structure models

More...
ModBasei
Search...

<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>Domaini355 – 414Sushi 1PROSITE-ProRule annotationAdd BLAST60
Domaini416 – 527CUB 1PROSITE-ProRule annotationAdd BLAST112
Domaini530 – 591Sushi 2PROSITE-ProRule annotationAdd BLAST62
Domaini593 – 704CUB 2PROSITE-ProRule annotationAdd BLAST112
Domaini708 – 767Sushi 3PROSITE-ProRule annotationAdd BLAST60
Domaini769 – 832Sushi 4PROSITE-ProRule annotationAdd BLAST64
Domaini836 – 897Sushi 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>Regioni38 – 47O-glycosylated at two sites10
Regioni59 – 63O-glycosylated at two sites5

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 biasi90 – 188Pro-richAdd BLAST99
Compositional biasi211 – 240Thr-richAdd BLAST30

<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
ENOG410IS3V Eukaryota
ENOG410YA6K LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000156995

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q53EL9

Identification of Orthologs from Complete Genome Data

More...
OMAi
GEMREYE

Database of Orthologous Groups

More...
OrthoDBi
126806at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q53EL9

TreeFam database of animal gene trees

More...
TreeFami
TF330037

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00033 CCP, 5 hits
cd00041 CUB, 2 hits

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.120.290, 2 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, 2 hits
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, 2 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, 2 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 (4+)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 4 <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 4 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q53EL9-1) [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
MRPVALLLLP SLLALLAHGL SLEAPTVGKG QAPGIEETDG ELTAAPTPEQ
60 70 80 90 100
PERGVHFVTT APTLKLLNHH PLLEEFLQEG LEKGDEELRP ALPFQPDPPA
110 120 130 140 150
PFTPSPLPRL ANQDSRPVFT SPTPAMAAVP TQPQSKEGPW SPESESPMLR
160 170 180 190 200
ITAPLPPGPS MAVPTLGPGE IASTTPPSRA WTPTQEGPGD MGRPWVAEVV
210 220 230 240 250
SQGAGIGIQG TITSSTASGD DEETTTTTTI ITTTITTVQT PGPCSWNFSG
260 270 280 290 300
PEGSLDSPTD LSSPTDVGLD CFFYISVYPG YGVEIKVQNI SLREGETVTV
310 320 330 340 350
EGLGGPDPLP LANQSFLLRG QVIRSPTHQA ALRFQSLPPP AGPGTFHFHY
360 370 380 390 400
QAYLLSCHFP RRPAYGDVTV TSLHPGGSAR FHCATGYQLK GARHLTCLNA
410 420 430 440 450
TQPFWDSKEP VCIAACGGVI RNATTGRIVS PGFPGNYSNN LTCHWLLEAP
460 470 480 490 500
EGQRLHLHFE KVSLAEDDDR LIIRNGDNVE APPVYDSYEV EYLPIEGLLS
510 520 530 540 550
SGKHFFVELS TDSSGAAAGM ALRYEAFQQG HCYEPFVKYG NFSSSTPTYP
560 570 580 590 600
VGTTVEFSCD PGYTLEQGSI IIECVDPHDP QWNETEPACR AVCSGEITDS
610 620 630 640 650
AGVVLSPNWP EPYGRGQDCI WGVHVEEDKR IMLDIRVLRI GPGDVLTFYD
660 670 680 690 700
GDDLTARVLG QYSGPRSHFK LFTSMADVTI QFQSDPGTSV LGYQQGFVIH
710 720 730 740 750
FFEVPRNDTC PELPEIPNGW KSPSQPELVH GTVVTYQCYP GYQVVGSSVL
760 770 780 790 800
MCQWDLTWSE DLPSCQRVTS CHDPGDVEHS RRLISSPKFP VGATVQYICD
810 820 830 840 850
QGFVLMGSSI LTCHDRQAGS PKWSDRAPKC LLEQLKPCHG LSAPENGARS
860 870 880 890 900
PEKQLHPAGA TIHFSCAPGY VLKGQASIKC VPGHPSHWSD PPPICRAASL
910 920 930 940 950
DGFYNSRSLD VAKAPAASST LDAAHIAAAI FLPLVAMVLL VGGVYFYFSR
960 970 980 990
LQGKSSLQLP RPRPRPYNRI TIESAFDNPT YETGSLSFAG DERI
Length:994
Mass (Da):107,425
Last modified:June 10, 2008 - 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:iBF715A8EEA4101C6
GO
Isoform 2 (identifier: Q53EL9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-125: Missing.

Show »
Length:869
Mass (Da):94,072
Checksum:iDECE12B2D89E9AEA
GO
Isoform 3 (identifier: Q53EL9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     985-994: SLSFAGDERI → ETREYEVSI

Show »
Length:993
Mass (Da):107,456
Checksum:iEEDA368937831723
GO
Isoform 4 (identifier: Q53EL9-4) [UniParc]FASTAAdd to basket
Also known as: SEZ6b

The sequence of this isoform differs from the canonical sequence as follows:
     493-508: LPIEGLLSSGKHFFVE → PPPPPPLQPHYHRVSV
     509-994: Missing.

Show »
Length:508
Mass (Da):54,396
Checksum:iC409C72F89CC7073
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JFF1C9JFF1_HUMAN
Seizure protein 6 homolog
SEZ6
994Annotation 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>
A0A0A0MSU7A0A0A0MSU7_HUMAN
Seizure protein 6 homolog
SEZ6
980Annotation 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>
H0YF95H0YF95_HUMAN
Seizure protein 6 homolog
SEZ6
919Annotation 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>
H0YFX0H0YFX0_HUMAN
Seizure protein 6 homolog
SEZ6
454Annotation 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>
H0YGK0H0YGK0_HUMAN
Seizure protein 6 homolog
SEZ6
131Annotation 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>
K7ELJ4K7ELJ4_HUMAN
Seizure protein 6 homolog
SEZ6
56Annotation 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>
H0YFT6H0YFT6_HUMAN
Seizure protein 6 homolog
SEZ6
101Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAK71497 differs from that shown. Reason: Frameshift.Curated
The sequence AAM22213 differs from that shown. Reason: Frameshift.Curated
The sequence BAB70826 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB70912 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

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 conflicti78Q → H in AAM22213 (Ref. 1) Curated1
Sequence conflicti78Q → H in AAM22214 (Ref. 1) Curated1
Sequence conflicti78Q → H in AAK71497 (Ref. 1) Curated1
Sequence conflicti93P → S in AAM22213 (Ref. 1) Curated1
Sequence conflicti93P → S in AAM22214 (Ref. 1) Curated1
Sequence conflicti93P → S in AAK71497 (Ref. 1) Curated1
Sequence conflicti141S → SPD in AAM22213 (Ref. 1) Curated1
Sequence conflicti141S → SPD in AAM22214 (Ref. 1) Curated1
Sequence conflicti141S → SPD in AAK71497 (Ref. 1) Curated1
Sequence conflicti288Q → K in AAM22213 (Ref. 1) Curated1
Sequence conflicti288Q → K in AAK71497 (Ref. 1) Curated1
Sequence conflicti359F → L in BAD97340 (Ref. 3) Curated1
Sequence conflicti414 – 417AACG → GECP in AAM22213 (Ref. 1) Curated4
Sequence conflicti414 – 417AACG → GECP in AAK71497 (Ref. 1) Curated4
Sequence conflicti417G → P in AAM22213 (Ref. 1) Curated1
Sequence conflicti417G → P in AAK71497 (Ref. 1) Curated1
Sequence conflicti815D → G in BAB70912 (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_044048300V → M1 PublicationCorresponds to variant dbSNP:rs1428430471Ensembl.1
Natural variantiVAR_044049330A → V1 PublicationCorresponds to variant dbSNP:rs754657367Ensembl.1
Natural variantiVAR_044050546T → A. Corresponds to variant dbSNP:rs1976165Ensembl.1
Natural variantiVAR_044051592V → A1 PublicationCorresponds to variant dbSNP:rs1397876475Ensembl.1
Natural variantiVAR_044052736Y → N1 Publication1
Natural variantiVAR_044053756L → V1 Publication1
Natural variantiVAR_044054806M → T1 PublicationCorresponds to variant dbSNP:rs12941884Ensembl.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_0342501 – 125Missing in isoform 2. 1 PublicationAdd BLAST125
Alternative sequenceiVSP_034251493 – 508LPIEG…HFFVE → PPPPPPLQPHYHRVSV in isoform 4. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_034252509 – 994Missing in isoform 4. 1 PublicationAdd BLAST486
Alternative sequenceiVSP_034253985 – 994SLSFAGDERI → ETREYEVSI in isoform 3. 1 Publication10

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AY038048 mRNA Translation: AAK71497.1 Frameshift.
AF502129 mRNA Translation: AAM22213.1 Frameshift.
AF502130 mRNA Translation: AAM22214.1
AK054913 mRNA Translation: BAB70826.1 Different initiation.
AK055383 mRNA Translation: BAB70912.1 Different initiation.
AK091522 mRNA Translation: BAC03684.1
AK223620 mRNA Translation: BAD97340.1
AC024267 Genomic DNA No translation available.
AC024619 Genomic DNA No translation available.
AL834405 mRNA Translation: CAD39067.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS45638.1 [Q53EL9-3]
CCDS45639.1 [Q53EL9-1]

NCBI Reference Sequences

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RefSeqi
NP_001092105.1, NM_001098635.1 [Q53EL9-3]
NP_001277131.1, NM_001290202.1 [Q53EL9-2]
NP_849191.3, NM_178860.4 [Q53EL9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000317338; ENSP00000312942; ENSG00000063015 [Q53EL9-1]
ENST00000360295; ENSP00000353440; ENSG00000063015 [Q53EL9-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
124925

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:124925

UCSC genome browser

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UCSCi
uc002hdp.3 human [Q53EL9-1]

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
AY038048 mRNA Translation: AAK71497.1 Frameshift.
AF502129 mRNA Translation: AAM22213.1 Frameshift.
AF502130 mRNA Translation: AAM22214.1
AK054913 mRNA Translation: BAB70826.1 Different initiation.
AK055383 mRNA Translation: BAB70912.1 Different initiation.
AK091522 mRNA Translation: BAC03684.1
AK223620 mRNA Translation: BAD97340.1
AC024267 Genomic DNA No translation available.
AC024619 Genomic DNA No translation available.
AL834405 mRNA Translation: CAD39067.1
CCDSiCCDS45638.1 [Q53EL9-3]
CCDS45639.1 [Q53EL9-1]
RefSeqiNP_001092105.1, NM_001098635.1 [Q53EL9-3]
NP_001277131.1, NM_001290202.1 [Q53EL9-2]
NP_849191.3, NM_178860.4 [Q53EL9-1]

3D structure databases

SMRiQ53EL9
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi125899, 2 interactors
IntActiQ53EL9, 3 interactors
MINTiQ53EL9
STRINGi9606.ENSP00000312942

PTM databases

iPTMnetiQ53EL9
PhosphoSitePlusiQ53EL9

Polymorphism and mutation databases

BioMutaiSEZ6
DMDMi190410975

Proteomic databases

MassIVEiQ53EL9
PaxDbiQ53EL9
PeptideAtlasiQ53EL9
PRIDEiQ53EL9
ProteomicsDBi62438 [Q53EL9-1]
62439 [Q53EL9-2]
62440 [Q53EL9-3]
62441 [Q53EL9-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
2178 44 antibodies

The DNASU plasmid repository

More...
DNASUi
124925

Genome annotation databases

EnsembliENST00000317338; ENSP00000312942; ENSG00000063015 [Q53EL9-1]
ENST00000360295; ENSP00000353440; ENSG00000063015 [Q53EL9-3]
GeneIDi124925
KEGGihsa:124925
UCSCiuc002hdp.3 human [Q53EL9-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
124925
DisGeNETi124925
EuPathDBiHostDB:ENSG00000063015.19

GeneCards: human genes, protein and diseases

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GeneCardsi
SEZ6
HGNCiHGNC:15955 SEZ6
HPAiENSG00000063015 Tissue enriched (brain)
MIMi616666 gene
neXtProtiNX_Q53EL9
OpenTargetsiENSG00000063015
PharmGKBiPA38065

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IS3V Eukaryota
ENOG410YA6K LUCA
GeneTreeiENSGT00940000156995
InParanoidiQ53EL9
OMAiGEMREYE
OrthoDBi126806at2759
PhylomeDBiQ53EL9
TreeFamiTF330037

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
124925 6 hits in 786 CRISPR screens

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

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ChiTaRSi
SEZ6 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SEZ6

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

More...
GenomeRNAii
124925
PharosiQ53EL9 Tdark

Protein Ontology

More...
PROi
PR:Q53EL9
RNActiQ53EL9 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000063015 Expressed in cerebellar vermis and 106 other tissues
ExpressionAtlasiQ53EL9 baseline and differential
GenevisibleiQ53EL9 HS

Family and domain databases

CDDicd00033 CCP, 5 hits
cd00041 CUB, 2 hits
Gene3Di2.60.120.290, 2 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, 2 hits
PF00084 Sushi, 5 hits
SMARTiView protein in SMART
SM00032 CCP, 5 hits
SM00042 CUB, 2 hits
SUPFAMiSSF49854 SSF49854, 3 hits
SSF57535 SSF57535, 5 hits
PROSITEiView protein in PROSITE
PS01180 CUB, 2 hits
PS50923 SUSHI, 5 hits

ProtoNet; Automatic hierarchical classification of proteins

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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 nameiSEZ6_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: Q53EL9
Secondary accession number(s): B6ZDN1
, Q8N701, Q8NB57, Q8ND50, Q8TD25, Q96NI5, Q96NQ3
<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: June 10, 2008
Last sequence update: June 10, 2008
Last modified: June 17, 2020
This is version 122 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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