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UniProtKB - Q96G97 (BSCL2_HUMAN)

Entry version 160 (02 Dec 2020)
Sequence version 3 (24 Nov 2009)
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Protein

Seipin

Gene

BSCL2

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

Plays a crucial role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis (PubMed:19278620, PubMed:21533227, PubMed:31708432, PubMed:30293840). In association with TMEM159/LDAF1, defines the sites of LD formation in the ER (PubMed:31708432). Also required for growth and maturation of small nascent LDs into larger mature LDs (PubMed:27564575). Mediates the formation and/or stabilization of endoplasmic reticulum-lipid droplets (ER-LD) contacts, facilitating protein and lipid delivery from the ER into growing LDs (PubMed:31178403, PubMed:27879284). Regulates the maturation of ZFYVE1-positive nascent LDs and the function of the RAB18-ZFYVE1 complex in mediating the formation of ER-LD contacts (PubMed:30970241). Binds anionic phospholipids including phosphatidic acid (PubMed:30293840). Plays an important role in the differentiation and development of adipocytes (By similarity).By similarity8 Publications

<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 - Molecular functioni

  • phospholipid binding Source: UniProtKB
Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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>Keywordsi

Biological processLipid degradation, Lipid metabolism

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96G97

Protein family/group databases

Transport Classification Database

More...TCDBi		1.R.1.1.1, the membrane contact site (mcs) family

<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:
Seipin
Alternative name(s):
Bernardinelli-Seip congenital lipodystrophy type 2 protein
<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:BSCL2
<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 11

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000168000.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:15832, BSCL2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606158, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96G97

<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 domaini1 – 26CytoplasmicSequence analysisAdd BLAST26
<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>Transmembranei27 – 47HelicalSequence analysisAdd BLAST21
Topological domaini48 – 242LumenalSequence analysisAdd BLAST195
Transmembranei243 – 263HelicalSequence analysisAdd BLAST21
Topological domaini264 – 398CytoplasmicSequence analysisAdd BLAST135

Keywords - Cellular componenti

Endoplasmic reticulum, Lipid droplet, 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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Congenital generalized lipodystrophy 2 (CGL2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes.
Related information in OMIM
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_022377212A → P in CGL2; increases localization to nuclear envelope; no effect on its interaction with TMEM159/LDAF1; no rescue of aberrant lipid droplet formation in BSCL2-knockdown cells. 3 PublicationsCorresponds to variant dbSNP:rs137852971EnsemblClinVar.1
Spastic paraplegia 17, autosomal dominant (SPG17)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG17 is characterized by prominent amyotrophy of the hand muscles, the presence of mild to severe pyramidal tract signs and spastic paraplegia. SPG17 is a motor neuron disease overlapping with distal spinal muscular atrophy type 5.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02237588N → S in SPG17 and HMN5A; does not affect protein subcellular location. 3 PublicationsCorresponds to variant dbSNP:rs137852972EnsemblClinVar.1
Natural variantiVAR_02237690S → L in SPG17 and HMN5A; also found in patients with hereditary motor and sensory neuropathy type 2; does not affect the function in lipid storage. 4 PublicationsCorresponds to variant dbSNP:rs137852973EnsemblClinVar.1
Neuronopathy, distal hereditary motor, 5A (HMN5A)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by distal muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These constitute a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02237588N → S in SPG17 and HMN5A; does not affect protein subcellular location. 3 PublicationsCorresponds to variant dbSNP:rs137852972EnsemblClinVar.1
Natural variantiVAR_02237690S → L in SPG17 and HMN5A; also found in patients with hereditary motor and sensory neuropathy type 2; does not affect the function in lipid storage. 4 PublicationsCorresponds to variant dbSNP:rs137852973EnsemblClinVar.1
Encephalopathy, progressive, with or without lipodystrophy (PELD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disease characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade, hyperactive behavior, seizures, tremor and ataxic gait. Patients may show a mild or typical lipodystrophic appearance.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi67H → R: Loss of oligomerization and function in lipid droplet formation; when associated with A-70; A-151; D-156; D-169 and A-175. 1 Publication1
Mutagenesisi70Y → A: Loss of oligomerization and function in lipid droplet formation; when associated with R-67; A-151; D-156; D-169 and A-175. 1 Publication1
Mutagenesisi151Y → A: Loss of oligomerization and function in lipid droplet biogenesis; when associated with R-67; A-70; D-156; D-169 and A-175. 1 Publication1
Mutagenesisi156L → D: Loss of oligomerization and function in lipid droplet formation; when associated with R-67; A-70; A-151; D-169 and A-175. 1 Publication1
Mutagenesisi169L → D: Loss of oligomerization and function in lipid droplet formation; when associated with R-67; A-70; A-151; D-156 and A-175. 1 Publication1
Mutagenesisi175Q → A: Loss of oligomerization and function in lipid droplet formation; when associated with R-67; A-70; A-151; D-156 and D-169. 1 Publication1

Keywords - Diseasei

Congenital generalized lipodystrophy, Diabetes mellitus, Disease mutation, Hereditary spastic paraplegia, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

More...DisGeNETi		26580

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		BSCL2

MalaCards human disease database

More...MalaCardsi		BSCL2
MIMi269700, phenotype
270685, phenotype
600794, phenotype
615924, phenotype

Open Targets

More...OpenTargetsi		ENSG00000168000

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		100998, Autosomal dominant spastic paraplegia type 17
528, Berardinelli-Seip congenital lipodystrophy
139536, Distal hereditary motor neuropathy type 5
363400, Severe neurodegenerative syndrome with lipodystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA25432

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96G97, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		BSCL2

Domain mapping of disease mutations (DMDM)

More...DMDMi		269849705

<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 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_00001916791 – 398SeipinAdd BLAST398

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>Glycosylationi88N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi242N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei289PhosphoserineCombined sources1
Modified residuei346PhosphoserineBy similarity1
Modified residuei351PhosphoserineBy similarity1
Modified residuei372PhosphoserineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96G97

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96G97

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96G97

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

More...PaxDbi		Q96G97

PeptideAtlas

More...PeptideAtlasi		Q96G97

PRoteomics IDEntifications database

More...PRIDEi		Q96G97

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		33726
76606 [Q96G97-2]
76607 [Q96G97-3]

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		Q96G97

GlyConnect protein glycosylation platform

More...GlyConnecti		1728, 7 N-Linked glycans (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q96G97, 2 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96G97

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

More...PhosphoSitePlusi		Q96G97

<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 provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in motor neurons in the spinal cord and cortical neurons in the frontal lobe (at protein level). Highly expressed in brain, testis and adipose tissue.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000168000, Expressed in testis and 122 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96G97, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96G97, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000168000, Low tissue specificity

<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">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Undecamer (an oligomer having eleven subunits) (PubMed:30293840). Oligomerization is important for its function in lipid droplet formation (PubMed:30293840).

Interacts with TMEM159/LDAF1 to form an oligomeric complex (PubMed:31708432, PubMed:30901948).

Interacts with RAB18 (PubMed:30970241).

Interacts with ZFYVE1 in a RAB18-dependent manner (PubMed:30970241).

4 Publications

Interacts with TMEM159/LDAF1 to form an oligomeric complex.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		117749, 80 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q96G97

Protein interaction database and analysis system

More...IntActi		Q96G97, 35 interactors

Molecular INTeraction database

More...MINTi		Q96G97

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000354032

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96G97, 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		Q96G97

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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

<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 seipin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4200, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000011639

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_049458_1_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96G97

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96G97

TreeFam database of animal gene trees

More...TreeFami		TF314000

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009617, Seipin

The PANTHER Classification System

More...PANTHERi		PTHR21212, PTHR21212, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF06775, Seipin, 1 hit

<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 (3+)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.

This entry describes 3 <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 3 described isoforms and 14 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96G97-2) [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
MVNDPPVPAL LWAQEVGQVL AGRARRLLLQ FGVLFCTILL LLWVSVFLYG 
        60         70         80         90        100
SFYYSYMPTV SHLSPVHFYY RTDCDSSTTS LCSFPVANVS LTKGGRDRVL 
       110        120        130        140        150
MYGQPYRVTL ELELPESPVN QDLGMFLVTI SCYTRGGRII STSSRSVMLH 
       160        170        180        190        200
YRSDLLQMLD TLVFSSLLLF GFAEQKQLLE VELYADYREN SYVPTTGAII 
       210        220        230        240        250
EIHSKRIQLY GAYLRIHAHF TGLRYLLYNF PMTCAFIGVA SNFTFLSVIV 
       260        270        280        290        300
LFSYMQWVWG GIWPRHRFSL QVNIRKRDNS RKEVQRRISA HQPGPEGQEE 
       310        320        330        340        350
STPQSDVTED GESPEDPSGT EGQLSEEEKP DQQPLSGEEE LEPEASDGSG 
       360        370        380        390 
SWEDAALLTE ANLPAPAPAS ASAPVLETLG SSEPAGGALR QRPTCSSS
Length:398
Mass (Da):44,392
Last modified:November 24, 2009 - v3
<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:i9FB1B37E72493DB9
GO
Isoform 2 (identifier: Q96G97-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     225-287: YLLYNFPMTC...DNSRKEVQRR → LTSEKETIPG...PRRRNQISSP
     288-398: Missing.

Show »
Length:287
Mass (Da):32,654
Checksum:i674512CF110B8382
GO
Isoform 3 (identifier: Q96G97-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSTEKVDQKEEAGEKEVCGDQIKGPDKEEEPPAAASHGQGWRPGGRAARNARPEPGARHPALPAM

Show »
Length:462
Mass (Da):51,159
Checksum:i2DBDD5A48366AF48
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 14 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KQ12J3KQ12_HUMAN
Seipin
BSCL2 hCG_2020143
464Annotation 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>
H7BXM1H7BXM1_HUMAN
Seipin
BSCL2
277Annotation 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>
E9PIU3E9PIU3_HUMAN
Seipin
BSCL2
226Annotation 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>
E9PSB5E9PSB5_HUMAN
Seipin
BSCL2
123Annotation 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>
E9PRU2E9PRU2_HUMAN
Seipin
BSCL2
99Annotation 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>
F8W7Q8F8W7Q8_HUMAN
Seipin
BSCL2
223Annotation 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>
E9PR78E9PR78_HUMAN
Seipin
BSCL2
111Annotation 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>
H7BYY0H7BYY0_HUMAN
Seipin
BSCL2
79Annotation 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>
H7C2D5H7C2D5_HUMAN
Seipin
BSCL2
150Annotation 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>
E9PJK0E9PJK0_HUMAN
Seipin
BSCL2
93Annotation 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>
There are more potential isoformsShow all

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02237588N → S in SPG17 and HMN5A; does not affect protein subcellular location. 3 PublicationsCorresponds to variant dbSNP:rs137852972EnsemblClinVar.1
Natural variantiVAR_02237690S → L in SPG17 and HMN5A; also found in patients with hereditary motor and sensory neuropathy type 2; does not affect the function in lipid storage. 4 PublicationsCorresponds to variant dbSNP:rs137852973EnsemblClinVar.1
Natural variantiVAR_022377212A → P in CGL2; increases localization to nuclear envelope; no effect on its interaction with TMEM159/LDAF1; no rescue of aberrant lipid droplet formation in BSCL2-knockdown cells. 3 PublicationsCorresponds to variant dbSNP:rs137852971EnsemblClinVar.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_0445451M → MSTEKVDQKEEAGEKEVCGD QIKGPDKEEEPPAAASHGQG WRPGGRAARNARPEPGARHP ALPAM in isoform 3. Curated1
Alternative sequenceiVSP_051726225 – 287YLLYN…EVQRR → LTSEKETIPGRKSNEGSLLI SQGLKARRSQLRNQMLQRMV RALKIPQGQRVSCPRRRNQI SSP in isoform 2. 1 PublicationAdd BLAST63
Alternative sequenceiVSP_051727288 – 398Missing in isoform 2. 1 PublicationAdd BLAST111

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
AK027524 mRNA Translation: BAB55175.1
AK075317 mRNA Translation: BAC11543.1
AF052149 mRNA No translation available.
CH471076 Genomic DNA Translation: EAW74070.1
CH471076 Genomic DNA Translation: EAW74074.1
AP001458 Genomic DNA No translation available.
BC004911 mRNA Translation: AAH04911.1
BC012140 mRNA Translation: AAH12140.1
BC041640 mRNA Translation: AAH41640.1
BC093048 mRNA Translation: AAH93048.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS44627.1 [Q96G97-4]
CCDS55769.1 [Q96G97-3]
CCDS8031.1 [Q96G97-2]

NCBI Reference Sequences

More...RefSeqi		NP_001116427.1, NM_001122955.3 [Q96G97-4]
NP_001124174.2, NM_001130702.2 [Q96G97-3]
NP_116056.3, NM_032667.6 [Q96G97-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000278893; ENSP00000278893; ENSG00000168000 [Q96G97-3]
ENST00000360796; ENSP00000354032; ENSG00000168000 [Q96G97-4]
ENST00000403550; ENSP00000385561; ENSG00000168000 [Q96G97-2]
ENST00000407022; ENSP00000384080; ENSG00000168000 [Q96G97-2]
ENST00000421906; ENSP00000413209; ENSG00000168000 [Q96G97-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		26580

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:26580

UCSC genome browser

More...UCSCi		uc001nup.4, human [Q96G97-2]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AK027524 mRNA Translation: BAB55175.1
AK075317 mRNA Translation: BAC11543.1
AF052149 mRNA No translation available.
CH471076 Genomic DNA Translation: EAW74070.1
CH471076 Genomic DNA Translation: EAW74074.1
AP001458 Genomic DNA No translation available.
BC004911 mRNA Translation: AAH04911.1
BC012140 mRNA Translation: AAH12140.1
BC041640 mRNA Translation: AAH41640.1
BC093048 mRNA Translation: AAH93048.1
CCDSiCCDS44627.1 [Q96G97-4]
CCDS55769.1 [Q96G97-3]
CCDS8031.1 [Q96G97-2]
RefSeqiNP_001116427.1, NM_001122955.3 [Q96G97-4]
NP_001124174.2, NM_001130702.2 [Q96G97-3]
NP_116056.3, NM_032667.6 [Q96G97-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6DS5electron microscopy3.80A/B/C/D/E/F/G/H/I/J/K2-398[»]
SMRiQ96G97
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi117749, 80 interactors
CORUMiQ96G97
IntActiQ96G97, 35 interactors
MINTiQ96G97
STRINGi9606.ENSP00000354032

Protein family/group databases

TCDBi1.R.1.1.1, the membrane contact site (mcs) family

PTM databases

CarbonylDBiQ96G97
GlyConnecti1728, 7 N-Linked glycans (1 site)
GlyGeniQ96G97, 2 sites
iPTMnetiQ96G97
PhosphoSitePlusiQ96G97

Polymorphism and mutation databases

BioMutaiBSCL2
DMDMi269849705

Proteomic databases

EPDiQ96G97
jPOSTiQ96G97
MassIVEiQ96G97
PaxDbiQ96G97
PeptideAtlasiQ96G97
PRIDEiQ96G97
ProteomicsDBi33726
76606 [Q96G97-2]
76607 [Q96G97-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		28672, 167 antibodies

The DNASU plasmid repository

More...DNASUi		26580

Genome annotation databases

EnsembliENST00000278893; ENSP00000278893; ENSG00000168000 [Q96G97-3]
ENST00000360796; ENSP00000354032; ENSG00000168000 [Q96G97-4]
ENST00000403550; ENSP00000385561; ENSG00000168000 [Q96G97-2]
ENST00000407022; ENSP00000384080; ENSG00000168000 [Q96G97-2]
ENST00000421906; ENSP00000413209; ENSG00000168000 [Q96G97-2]
GeneIDi26580
KEGGihsa:26580
UCSCiuc001nup.4, human [Q96G97-2]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		26580
DisGeNETi26580
EuPathDBiHostDB:ENSG00000168000.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		BSCL2
GeneReviewsiBSCL2
HGNCiHGNC:15832, BSCL2
HPAiENSG00000168000, Low tissue specificity
MalaCardsiBSCL2
MIMi269700, phenotype
270685, phenotype
600794, phenotype
606158, gene
615924, phenotype
neXtProtiNX_Q96G97
OpenTargetsiENSG00000168000
Orphaneti100998, Autosomal dominant spastic paraplegia type 17
528, Berardinelli-Seip congenital lipodystrophy
139536, Distal hereditary motor neuropathy type 5
363400, Severe neurodegenerative syndrome with lipodystrophy
PharmGKBiPA25432

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4200, Eukaryota
GeneTreeiENSGT00390000011639
HOGENOMiCLU_049458_1_1_1
InParanoidiQ96G97
PhylomeDBiQ96G97
TreeFamiTF314000

Enzyme and pathway databases

PathwayCommonsiQ96G97

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		26580, 18 hits in 846 CRISPR screens

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

More...ChiTaRSi		BSCL2, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		BSCL2

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

More...GenomeRNAii		26580
PharosiQ96G97, Tbio

Protein Ontology

More...PROi		PR:Q96G97
RNActiQ96G97, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000168000, Expressed in testis and 122 other tissues
ExpressionAtlasiQ96G97, baseline and differential
GenevisibleiQ96G97, HS

Family and domain databases

InterProiView protein in InterPro
IPR009617, Seipin
PANTHERiPTHR21212, PTHR21212, 1 hit
PfamiView protein in Pfam
PF06775, Seipin, 1 hit

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 nameiBSCL2_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: Q96G97
Secondary accession number(s): G3XAE4
, Q567S1, Q96SV1, Q9BSQ0
<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: April 26, 2005
Last sequence update: November 24, 2009
Last modified: December 2, 2020
This is version 160 of the entry and version 3 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

3D-structure, 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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