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Entry version 161 (16 Oct 2019)
Sequence version 3 (22 Sep 2009)
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Protein

Lethal(2) giant larvae protein homolog 1

Gene

LLGL1

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

Cortical cytoskeleton protein found in a complex involved in maintaining cell polarity and epithelial integrity. Involved in the regulation of mitotic spindle orientation, proliferation, differentiation and tissue organization of neuroepithelial cells. Involved in axonogenesis through RAB10 activation thereby regulating vesicular membrane trafficking toward the axonal plasma membrane.2 Publications

Miscellaneous

Down-regulation of LLGL1 is associated with the progression of colorectal cancer and melanoma. Located within the Smith-Magenis syndrome region on chromosome 17; deleted in patients with this syndrome.
Expression increases cell adhesion and decreases cell migration. Substitutes for Drosophila l2gl tumor suppressor function in vivo.

<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

GO - Biological processi

<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 processExocytosis

<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_and_taxonomy_section">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:
Lethal(2) giant larvae protein homolog 1
Short name:
LLGL
Alternative name(s):
DLG4
Hugl-1
Human homolog to the D-lgl gene protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:LLGL1
Synonyms:DLG4, HUGL, HUGL1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6628 LLGL1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600966 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q15334

<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

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton, Endosome, Golgi apparatus, 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
3996

Open Targets

More...
OpenTargetsi
ENSG00000131899

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30396

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q15334

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LLGL1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
259016343

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002327251 – 1064Lethal(2) giant larvae protein homolog 1Add BLAST1064

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei663Phosphoserine1 Publication1
Modified residuei958PhosphothreonineBy similarity1
Modified residuei967PhosphoserineBy similarity1
Modified residuei985PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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

Phosphorylated at least at Ser-663 by PRKCI.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q15334

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q15334

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q15334

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q15334

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

More...
PaxDbi
Q15334

PeptideAtlas

More...
PeptideAtlasi
Q15334

PRoteomics IDEntifications database

More...
PRIDEi
Q15334

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
60533

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q15334

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

More...
PhosphoSitePlusi
Q15334

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q15334

<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 brain, kidney, and muscle but is barely seen in heart and placenta. Down-regulated or lost in all cell lines and in most of the tumor samples analyzed. Loss was associated with advanced stage of the disease.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000131899 Expressed in 223 organ(s), highest expression level in lymph node

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q15334 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q15334 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA022924
HPA023569

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Associated with nonmuscle myosin II heavy chain.

Interacts with PRKCI/aPKC, PARD6B/Par-6 and PARD6A.

Interacts with STX4A (By similarity).

Interacts with RAB10 (GDP-bound form); the interaction is direct and promotes RAB10 association with membranes and activation through competition with the Rab inhibitor GDI1 (By similarity).

Interacts with DCAF1.

By similarity3 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110183, 45 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q15334

Protein interaction database and analysis system

More...
IntActi
Q15334, 40 interactors

Molecular INTeraction database

More...
MINTi
Q15334

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000321537

<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
Q15334

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 ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati38 – 71WD 1Add BLAST34
Repeati78 – 119WD 2Add BLAST42
Repeati139 – 176WD 3Add BLAST38
Repeati200 – 234WD 4Add BLAST35
Repeati240 – 272WD 5Add BLAST33
Repeati290 – 332WD 6Add BLAST43
Repeati340 – 374WD 7Add BLAST35
Repeati396 – 474WD 8Add BLAST79
Repeati518 – 593WD 9Add BLAST76
Repeati602 – 663WD 10Add BLAST62
Repeati723 – 783WD 11Add BLAST61
Repeati792 – 844WD 12Add BLAST53
Repeati849 – 902WD 13Add BLAST54
Repeati916 – 939WD 14Add BLAST24

<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 WD repeat L(2)GL family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1983 Eukaryota
ENOG410XS6Z LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000182906

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000115700

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q15334

KEGG Orthology (KO)

More...
KOi
K06094

Identification of Orthologs from Complete Genome Data

More...
OMAi
LHTEWNL

Database of Orthologous Groups

More...
OrthoDBi
122541at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q15334

TreeFam database of animal gene trees

More...
TreeFami
TF314585

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.130.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000664 Lethal2_giant
IPR013577 LLGL2
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR036322 WD40_repeat_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF08366 LLGL, 1 hit
PF00400 WD40, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00962 LETHAL2GIANT

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00320 WD40, 5 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF50978 SSF50978, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00678 WD_REPEATS_1, 2 hits
PS50082 WD_REPEATS_2, 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_length">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>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q15334-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MMKFRFRRQG ADPQREKLKQ ELFAFNKTVE HGFPNQPSAL AFDPELRIMA
60 70 80 90 100
IGTRSGAVKI YGAPGVEFTG LHRDAATVTQ MHFLTGQGRL LSLLDDSSLH
110 120 130 140 150
LWEIVHHNGC AHLEEALSFQ LPSRPGFDGA SAPLSLTRVT VVLLVAASDI
160 170 180 190 200
AALGTEGSSV FFLDVTTLTL LEGQTLAPGE VLRSVPDDYR CGKALGPVES
210 220 230 240 250
LQGHLRDPTK ILIGYSRGLL VIWNQASQCV DHIFLGNQQL ESLCWGRDSS
260 270 280 290 300
TVVSSHSDGS YAVWSVDAGS FPTLQPTVAT TPYGPFPCKA INKILWRNCE
310 320 330 340 350
SGGHFIIFSG GMPRASYGDR HCVSVLRAET LVTLDFTSRI IDFFTVHSTR
360 370 380 390 400
PEDEFDDPQA LAVLLEEELV VLDLQTPGWP AVPAPYLAPL HSSAITCSAH
410 420 430 440 450
VASVPAKLWA RIVSAGEQQS PQPVSSALSW PITGGRNLAQ EPSQRGLLLT
460 470 480 490 500
GHEDGTVRFW DASGVALRPL YKLSTAGLFQ TDCEHADSLA QAAEDDWPPF
510 520 530 540 550
RKVGCFDPYS DDPRLGVQKV ALCKYTAQMV VAGTAGQVLV LELSDVPVEQ
560 570 580 590 600
AVSVAIIDLL QDREGFTWKG HERLSPRTGP LPWPAGFQPR VLVQCLPPAA
610 620 630 640 650
VTAVTLHTEW SLVAFGTSHG FGLFDYQRKS PVLARCTLHP NDSLAMEGPL
660 670 680 690 700
SRVKSLKKSL RQSFRRIRKS RVSGKKRAAN ASSKLQEANA QLAEQACPHD
710 720 730 740 750
VEMTPVQRRI EPRSADDSLS GVVRCLYFAD TFLRDGAHHG PTMWAGTNSG
760 770 780 790 800
SVFAYALEVP AAAVGGEKRP EQAVEAVLGK EVQLMHRAPV VAIAVLDGRG
810 820 830 840 850
RPLPEPYEAS RDLAQAPDMQ GGHAVLIASE EQFKVFTLPK VSAKTKFKLT
860 870 880 890 900
AHEGCRVRKV ALATFASVAC EDYAETCLAC LTNLGDVHVF SVPGLRPQVH
910 920 930 940 950
YSCIRKEDIS GIASCVFTRH GQGFYLISPS EFERFSLSAR NITEPLCSLD
960 970 980 990 1000
INWPRDATQA SYRIRESPKL SQANGTPSIL LAPQSLDGSP DPAHSMGPDT
1010 1020 1030 1040 1050
PEPPEAALSP MSIDSATSAD TTLDTTGDVT VEDVKDFLGS SEESEKNLRN
1060
LAEDEAHACA ILIK
Length:1,064
Mass (Da):115,418
Last modified:September 22, 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:i9318D6736934E4D5
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WW77A0A087WW77_HUMAN
Lethal(2) giant larvae protein homo...
LLGL1
1,056Annotation 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 BAA19516 differs from that shown. Reason: Frameshift.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 conflicti5R → P in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti152A → G in BAA19516 (PubMed:8565641).Curated1
Sequence conflicti159S → SS in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti194A → D in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti206R → Q in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti216S → D in BAA19516 (PubMed:8565641).Curated1
Sequence conflicti223W → R in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti226 – 227AS → SR in BAA19516 (PubMed:8565641).Curated2
Sequence conflicti337 – 338TS → HF in CAA60130 (PubMed:7542763).Curated2
Sequence conflicti400H → Y in BAA19516 (PubMed:8565641).Curated1
Sequence conflicti486A → S in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti580P → L in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti588Q → L in BAA19516 (PubMed:8565641).Curated1
Sequence conflicti590R → C in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti624 – 629FDYQRK → L in CAA60130 (PubMed:7542763).Curated6
Sequence conflicti686Q → L in BAA19516 (PubMed:8565641).Curated1
Sequence conflicti781 – 782EV → KE in BAA19516 (PubMed:8565641).Curated2
Sequence conflicti782V → L in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti799Missing in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti818D → H in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti860V → VV in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti871E → R in BAA19516 (PubMed:8565641).Curated1
Sequence conflicti894Missing in BAA19516 (PubMed:8565641).Curated1
Sequence conflicti898Q → E in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti945P → G in CAA60130 (PubMed:7542763).Curated1
Sequence conflicti1060 – 1064AILIK → CI in CAA60130 (PubMed:7542763).Curated5

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_058710148S → G3 PublicationsCorresponds to variant dbSNP:rs2290505Ensembl.1
Natural variantiVAR_058711550Q → H1 PublicationCorresponds to variant dbSNP:rs1063683Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
X86371 mRNA Translation: CAA60130.1
D50550 mRNA Translation: BAA19516.1 Frameshift.
BC028037 mRNA Translation: AAH28037.1
BC151838 mRNA Translation: AAI51839.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32586.1

Protein sequence database of the Protein Information Resource

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PIRi
I38171

NCBI Reference Sequences

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RefSeqi
NP_004131.3, NM_004140.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000316843; ENSP00000321537; ENSG00000131899
ENST00000640494; ENSP00000492144; ENSG00000284137

Database of genes from NCBI RefSeq genomes

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GeneIDi
3996

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:3996

UCSC genome browser

More...
UCSCi
uc002gsp.4 human

Keywords - Coding sequence diversityi

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
X86371 mRNA Translation: CAA60130.1
D50550 mRNA Translation: BAA19516.1 Frameshift.
BC028037 mRNA Translation: AAH28037.1
BC151838 mRNA Translation: AAI51839.1
CCDSiCCDS32586.1
PIRiI38171
RefSeqiNP_004131.3, NM_004140.3

3D structure databases

SMRiQ15334
ModBaseiSearch...

Protein-protein interaction databases

BioGridi110183, 45 interactors
CORUMiQ15334
IntActiQ15334, 40 interactors
MINTiQ15334
STRINGi9606.ENSP00000321537

PTM databases

iPTMnetiQ15334
PhosphoSitePlusiQ15334
SwissPalmiQ15334

Polymorphism and mutation databases

BioMutaiLLGL1
DMDMi259016343

Proteomic databases

EPDiQ15334
jPOSTiQ15334
MassIVEiQ15334
MaxQBiQ15334
PaxDbiQ15334
PeptideAtlasiQ15334
PRIDEiQ15334
ProteomicsDBi60533

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
3996

Genome annotation databases

EnsembliENST00000316843; ENSP00000321537; ENSG00000131899
ENST00000640494; ENSP00000492144; ENSG00000284137
GeneIDi3996
KEGGihsa:3996
UCSCiuc002gsp.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
3996
DisGeNETi3996

GeneCards: human genes, protein and diseases

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GeneCardsi
LLGL1
HGNCiHGNC:6628 LLGL1
HPAiHPA022924
HPA023569
MIMi600966 gene
neXtProtiNX_Q15334
OpenTargetsiENSG00000131899
PharmGKBiPA30396

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1983 Eukaryota
ENOG410XS6Z LUCA
GeneTreeiENSGT00950000182906
HOGENOMiHOG000115700
InParanoidiQ15334
KOiK06094
OMAiLHTEWNL
OrthoDBi122541at2759
PhylomeDBiQ15334
TreeFamiTF314585

Miscellaneous databases

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

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ChiTaRSi
LLGL1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
LLGL1

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

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GenomeRNAii
3996
PharosiQ15334

Protein Ontology

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PROi
PR:Q15334

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000131899 Expressed in 223 organ(s), highest expression level in lymph node
ExpressionAtlasiQ15334 baseline and differential
GenevisibleiQ15334 HS

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR000664 Lethal2_giant
IPR013577 LLGL2
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF08366 LLGL, 1 hit
PF00400 WD40, 1 hit
PRINTSiPR00962 LETHAL2GIANT
SMARTiView protein in SMART
SM00320 WD40, 5 hits
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 2 hits
PS50082 WD_REPEATS_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiL2GL1_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: Q15334
Secondary accession number(s): A7MBM7
, O00188, Q58F11, Q86UK6
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 18, 2006
Last sequence update: September 22, 2009
Last modified: October 16, 2019
This is version 161 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 17
    Human chromosome 17: 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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