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UniProtKB - Q96NW7 (LRRC7_HUMAN)

Entry version 168 (07 Oct 2020)
Sequence version 1 (01 Dec 2001)
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Protein

Leucine-rich repeat-containing protein 7

Gene

LRRC7

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

Required for normal synaptic spine architecture and function. Necessary for DISC1 and GRM5 localization to postsynaptic density complexes and for both N-methyl D-aspartate receptor-dependent and metabotropic glutamate receptor-dependent long term depression.1 Publication

<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

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96NW7

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-438066, Unblocking of NMDA receptors, glutamate binding and activation
R-HSA-442982, Ras activation upon Ca2+ influx through NMDA receptor
R-HSA-5673001, RAF/MAP kinase cascade
R-HSA-6798695, Neutrophil degranulation
R-HSA-9609736, Assembly and cell surface presentation of NMDA receptors
R-HSA-9617324, Negative regulation of NMDA receptor-mediated neuronal transmission
R-HSA-9620244, Long-term potentiation

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q96NW7

<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:
Leucine-rich repeat-containing protein 7
Alternative name(s):
Densin-180
Short name:
Densin
Protein LAP1
<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:LRRC7
Synonyms:KIAA1365, LAP1
<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: Unplaced

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000033122.18

Human Gene Nomenclature Database

More...HGNCi		HGNC:18531, LRRC7

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		614453, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96NW7

<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

<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 junction, Cytoplasm, Synapse

<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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134879588

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96NW7, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		LRRC7

Domain mapping of disease mutations (DMDM)

More...DMDMi		50401129

<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_00001882981 – 1537Leucine-rich repeat-containing protein 7Add BLAST1537

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 residuei439PhosphoserineBy similarity1
Modified residuei441PhosphoserineBy similarity1
Modified residuei443PhosphoserineBy similarity1
Modified residuei831PhosphothreonineBy similarity1
Modified residuei850PhosphoserineBy similarity1
Modified residuei865PhosphothreonineBy similarity1
Modified residuei869PhosphoserineBy similarity1
Modified residuei947PhosphoserineBy similarity1
Modified residuei949PhosphoserineBy similarity1
Modified residuei1118PhosphoserineBy similarity1
Modified residuei1149Omega-N-methylarginineBy similarity1
Modified residuei1233PhosphoserineBy similarity1
Modified residuei1335PhosphoserineBy similarity1
Modified residuei1439PhosphoserineBy similarity1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96NW7

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96NW7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96NW7

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96NW7

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

More...PaxDbi		Q96NW7

PeptideAtlas

More...PeptideAtlasi		Q96NW7

PRoteomics IDEntifications database

More...PRIDEi		Q96NW7

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		77567 [Q96NW7-1]
77568 [Q96NW7-2]
77569 [Q96NW7-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96NW7

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

More...PhosphoSitePlusi		Q96NW7

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q96NW7

<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

Brain-specific. Isoform 3 is ubiquitously expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000033122, Expressed in caudate nucleus and 138 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96NW7, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000033122, 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">'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

Interacts with CNKSR2 and DLG4 (By similarity).

Interacts with CTNND2/Catenin delta-2.

Forms a complex with N-cadherin through CTNND2 (PubMed:11729199).

Interacts with CAMK2A (PubMed:28130356).

By similarity2 Publications

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		121610, 15 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q96NW7

Protein interaction database and analysis system

More...IntActi		Q96NW7, 9 interactors

Molecular INTeraction database

More...MINTi		Q96NW7

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000035383

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96NW7, protein

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the '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>Repeati23 – 44LRR 1Add BLAST22
Repeati47 – 68LRR 2Add BLAST22
Repeati70 – 91LRR 3Add BLAST22
Repeati93 – 114LRR 4Add BLAST22
Repeati116 – 137LRR 5Add BLAST22
Repeati139 – 161LRR 6Add BLAST23
Repeati162 – 183LRR 7Add BLAST22
Repeati185 – 206LRR 8Add BLAST22
Repeati208 – 229LRR 9Add BLAST22
Repeati231 – 253LRR 10Add BLAST23
Repeati254 – 275LRR 11Add BLAST22
Repeati277 – 298LRR 12Add BLAST22
Repeati300 – 321LRR 13Add BLAST22
Repeati323 – 344LRR 14Add BLAST22
Repeati346 – 367LRR 15Add BLAST22
Repeati369 – 391LRR 16Add BLAST23
Repeati392 – 413LRR 17Add BLAST22
<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>Domaini1445 – 1535PDZPROSITE-ProRule annotationAdd BLAST91

<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 LAP (LRR and PDZ) protein family.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0619, Eukaryota

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96NW7

Database of Orthologous Groups

More...OrthoDBi		40683at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96NW7

TreeFam database of animal gene trees

More...TreeFami		TF351429

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.30.42.10, 1 hit
3.80.10.10, 4 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001611, Leu-rich_rpt
IPR003591, Leu-rich_rpt_typical-subtyp
IPR032675, LRR_dom_sf
IPR001478, PDZ
IPR036034, PDZ_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF13855, LRR_8, 4 hits
PF00595, PDZ, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00369, LRR_TYP, 11 hits
SM00228, PDZ, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50156, SSF50156, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51450, LRR, 15 hits
PS50106, PDZ, 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 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96NW7-1) [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
MTTKRKIIGR LVPCRCFRGE EEIISVLDYS HCSLQQVPKE VFNFERTLEE 
        60         70         80         90        100
LYLDANQIEE LPKQLFNCQA LRKLSIPDND LSNLPTTIAS LVNLKELDIS 
       110        120        130        140        150
KNGVQEFPEN IKCCKCLTII EASVNPISKL PDGFTQLLNL TQLYLNDAFL 
       160        170        180        190        200
EFLPANFGRL VKLRILELRE NHLKTLPKSM HKLAQLERLD LGNNEFGELP 
       210        220        230        240        250
EVLDQIQNLR ELWMDNNALQ VLPGSIGKLK MLVYLDMSKN RIETVDMDIS 
       260        270        280        290        300
GCEALEDLLL SSNMLQQLPD SIGLLKKLTT LKVDDNQLTM LPNTIGNLSL 
       310        320        330        340        350
LEEFDCSCNE LESLPSTIGY LHSLRTLAVD ENFLPELPRE IGSCKNVTVM 
       360        370        380        390        400
SLRSNKLEFL PEEIGQMQKL RVLNLSDNRL KNLPFSFTKL KELAALWLSD 
       410        420        430        440        450
NQSKALIPLQ TEAHPETKQR VLTNYMFPQQ PRGDEDFQSD SDSFNPTLWE 
       460        470        480        490        500
EQRQQRMTVA FEFEDKKEDD ENAGKVKDLS CQAPWERGQR GITLQPARLS 
       510        520        530        540        550
GDCCTPWARC DQQIQDMPVP QNDPQLAWGC ISGLQQERSM CTPLPVAAQS 
       560        570        580        590        600
TTLPSLSGRQ VEINLKRYPT PYPEDLKNMV KSVQNLVGKP SHGVRVENSN 
       610        620        630        640        650
PTANTEQTVK EKYEHKWPVA PKEITVEDSF VHPANEMRIG ELHPSLAETP 
       660        670        680        690        700
LYPPKLVLLG KDKKESTDES EVDKTHCLNN SVSSGTYSDY SPSQASSGSS 
       710        720        730        740        750
NTRVKVGSLQ TTAKDAVHNS LWGNRIAPSF PQPLDSKPLL SQREAVPPGN 
       760        770        780        790        800
IPQRPDRLPM SDTFTDNWTD GSHYDNTGFV AEETTAENAN SNPLLSSKSR 
       810        820        830        840        850
STSSHGRRPL IRQDRIVGVP LELEQSTHRH TPETEVPPSN PWQNWTRTPS 
       860        870        880        890        900
PFEDRTAFPS KLETTPTTSP LPERKEHIKE STEIPSPFSP GVPWEYHDSN 
       910        920        930        940        950
PNRSLSNVFS QIHCRPESSK GVISISKSTE RLSPLMKDIK SNKFKKSQSI 
       960        970        980        990       1000
DEIDIGTYKV YNIPLENYAS GSDHLGSHER PDKMLGPEHG MSSMSRSQSV 
      1010       1020       1030       1040       1050
PMLDDEMLTY GSSKGPQQQK ASMTKKVYQF DQSFNPQGSV EVKAEKRIPP 
      1060       1070       1080       1090       1100
PFQHNPEYVQ QASKNIAKDL ISPRAYRGYP PMEQMFSFSQ PSVNEDAVVN 
      1110       1120       1130       1140       1150
AQFASQGARA GFLRRADSLV SATEMAMFRR VNEPHELPPT DRYGRPPYRG 
      1160       1170       1180       1190       1200
GLDRQSSVTV TESQFLKRNG RYEDEHPSYQ EVKAQAGSFP VKNLTQRRPL 
      1210       1220       1230       1240       1250
SARSYSTESY GASQTRPVSA RPTMAALLEK IPSDYNLGNY GDKPSDNSDL 
      1260       1270       1280       1290       1300
KTRPTPVKGE ESCGKMPADW RQQLLRHIEA RRLDRNAAYK HNTVNLGMLP 
      1310       1320       1330       1340       1350
YGGISAMHAG RSMTLNLQTK SKFDHQELPL QKTPSQQSNI LDNGQEDVSP 
      1360       1370       1380       1390       1400
SGQWNPYPLG RRDVPPDTIT KKAGSHIQTL MGSQSLQHRS REQQPYEGNI 
      1410       1420       1430       1440       1450
NKVTIQQFQS PLPIQIPSSQ ATRGPQPGRC LIQTKGQRSM DGYPEQFCVR 
      1460       1470       1480       1490       1500
IEKNPGLGFS ISGGISGQGN PFKPSDKGIF VTRVQPDGPA SNLLQPGDKI 
      1510       1520       1530 
LQANGHSFVH MEHEKAVLLL KSFQNTVDLV IQRELTV
Length:1,537
Mass (Da):172,581
Last modified:December 1, 2001 - v1
<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:i1EB99AF133CD2925
GO
Isoform 2 (identifier: Q96NW7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1286-1332: Missing.

Show »
Length:1,490
Mass (Da):167,386
Checksum:iC9DFBE243559DD97
GO
Isoform 3 (identifier: Q96NW7-3) [UniParc]FASTAAdd to basket
Also known as: LRRC7

The sequence of this isoform differs from the canonical sequence as follows:
     178-179: KS → NI
     180-1537: Missing.

Show »
Length:179
Mass (Da):20,546
Checksum:i4DD81D9302A9CB0E
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A075B6E9A0A075B6E9_HUMAN
Leucine-rich repeat-containing prot...
LRRC7
1,495Annotation 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>
A0A494C1A4A0A494C1A4_HUMAN
Leucine-rich repeat-containing prot...
LRRC7
1,575Annotation 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>
F8WE45F8WE45_HUMAN
Leucine-rich repeat-containing prot...
LRRC7
821Annotation 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>
B1AKT2B1AKT2_HUMAN
Leucine-rich repeat-containing prot...
LRRC7
217Annotation 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>
K7ELH5K7ELH5_HUMAN
Leucine-rich repeat-containing prot...
LRRC7
61Annotation 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>
V9GYE1V9GYE1_HUMAN
Leucine-rich repeat-containing prot...
LRRC7
36Annotation 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>
V9GZ42V9GZ42_HUMAN
Leucine-rich repeat-containing prot...
LRRC7
25Annotation 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>
V9GY23V9GY23_HUMAN
Leucine-rich repeat-containing prot...
LRRC7
32Annotation 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 AAP06801 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA92603 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 conflicti373L → P (PubMed:17974005).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_035715235L → M in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0497271054H → Y. Corresponds to variant dbSNP:rs12069888Ensembl.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_010795178 – 179KS → NI in isoform 3. 1 Publication2
Alternative sequenceiVSP_010796180 – 1537Missing in isoform 3. 1 PublicationAdd BLAST1358
Alternative sequenceiVSP_0107971286 – 1332Missing in isoform 2. 1 PublicationAdd BLAST47

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
AF434715 mRNA Translation: AAL28133.1
AF498274 mRNA Translation: AAP06801.1 Different initiation.
AL117353 Genomic DNA No translation available.
AL157948 Genomic DNA No translation available.
AL158840 Genomic DNA No translation available.
AL359412 Genomic DNA No translation available.
AL391728 Genomic DNA No translation available.
CR749629 mRNA Translation: CAH18423.1
AB037786 mRNA Translation: BAA92603.1 Frameshift.

NCBI Reference Sequences

More...RefSeqi		NP_065845.1, NM_020794.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000035383; ENSP00000035383; ENSG00000033122

UCSC genome browser

More...UCSCi		uc001dep.4, human [Q96NW7-1]

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
AF434715 mRNA Translation: AAL28133.1
AF498274 mRNA Translation: AAP06801.1 Different initiation.
AL117353 Genomic DNA No translation available.
AL157948 Genomic DNA No translation available.
AL158840 Genomic DNA No translation available.
AL359412 Genomic DNA No translation available.
AL391728 Genomic DNA No translation available.
CR749629 mRNA Translation: CAH18423.1
AB037786 mRNA Translation: BAA92603.1 Frameshift.
RefSeqiNP_065845.1, NM_020794.2

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGRIDi121610, 15 interactors
CORUMiQ96NW7
IntActiQ96NW7, 9 interactors
MINTiQ96NW7
STRINGi9606.ENSP00000035383

PTM databases

iPTMnetiQ96NW7
PhosphoSitePlusiQ96NW7
SwissPalmiQ96NW7

Polymorphism and mutation databases

BioMutaiLRRC7
DMDMi50401129

Proteomic databases

EPDiQ96NW7
jPOSTiQ96NW7
MassIVEiQ96NW7
MaxQBiQ96NW7
PaxDbiQ96NW7
PeptideAtlasiQ96NW7
PRIDEiQ96NW7
ProteomicsDBi77567 [Q96NW7-1]
77568 [Q96NW7-2]
77569 [Q96NW7-3]

Genome annotation databases

EnsembliENST00000035383; ENSP00000035383; ENSG00000033122
UCSCiuc001dep.4, human [Q96NW7-1]

Organism-specific databases

EuPathDBiHostDB:ENSG00000033122.18

GeneCards: human genes, protein and diseases

More...GeneCardsi		LRRC7
HGNCiHGNC:18531, LRRC7
HPAiENSG00000033122, Tissue enriched (brain)
MIMi614453, gene
neXtProtiNX_Q96NW7
PharmGKBiPA134879588

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0619, Eukaryota
InParanoidiQ96NW7
OrthoDBi40683at2759
PhylomeDBiQ96NW7
TreeFamiTF351429

Enzyme and pathway databases

PathwayCommonsiQ96NW7
ReactomeiR-HSA-438066, Unblocking of NMDA receptors, glutamate binding and activation
R-HSA-442982, Ras activation upon Ca2+ influx through NMDA receptor
R-HSA-5673001, RAF/MAP kinase cascade
R-HSA-6798695, Neutrophil degranulation
R-HSA-9609736, Assembly and cell surface presentation of NMDA receptors
R-HSA-9617324, Negative regulation of NMDA receptor-mediated neuronal transmission
R-HSA-9620244, Long-term potentiation
SIGNORiQ96NW7

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		57554, 3 hits in 871 CRISPR screens

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

More...ChiTaRSi		LRRC7, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		LRRC7

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

More...GenomeRNAii		57554
PharosiQ96NW7, Tbio

Protein Ontology

More...PROi		PR:Q96NW7
RNActiQ96NW7, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000033122, Expressed in caudate nucleus and 138 other tissues
GenevisibleiQ96NW7, HS

Family and domain databases

Gene3Di2.30.42.10, 1 hit
3.80.10.10, 4 hits
InterProiView protein in InterPro
IPR001611, Leu-rich_rpt
IPR003591, Leu-rich_rpt_typical-subtyp
IPR032675, LRR_dom_sf
IPR001478, PDZ
IPR036034, PDZ_sf
PfamiView protein in Pfam
PF13855, LRR_8, 4 hits
PF00595, PDZ, 1 hit
SMARTiView protein in SMART
SM00369, LRR_TYP, 11 hits
SM00228, PDZ, 1 hit
SUPFAMiSSF50156, SSF50156, 1 hit
PROSITEiView protein in PROSITE
PS51450, LRR, 15 hits
PS50106, PDZ, 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 nameiLRRC7_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: Q96NW7
Secondary accession number(s): Q5VXC2
, Q5VXC3, Q68D07, Q86VE8, Q8WX20, Q9P2I2
<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: July 19, 2004
Last sequence update: December 1, 2001
Last modified: October 7, 2020
This is version 168 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Reference proteome

Documents

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