UniProtKB - Q96NW7 (LRRC7_HUMAN)
Protein
Leucine-rich repeat-containing protein 7
Gene
LRRC7
Organism
Homo sapiens (Human)
Status
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
GO - Biological processi
- cell-cell adhesion Source: GO_Central
- establishment or maintenance of epithelial cell apical/basal polarity Source: GO_Central
- MAPK cascade Source: Reactome
- neutrophil degranulation Source: Reactome
- positive regulation of neuron projection development Source: GO_Central
- receptor clustering Source: GO_Central
- receptor localization to synapse Source: GO_Central
- regulation of NMDA receptor activity Source: Reactome
Enzyme and pathway databases
PathwayCommonsi | Q96NW7 |
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 |
SIGNORi | Q96NW7 |
Names & Taxonomyi
Protein namesi | Recommended name: Leucine-rich repeat-containing protein 7Alternative name(s): Densin-180 Short name: Densin Protein LAP1 |
Gene namesi | Name:LRRC7 Synonyms:KIAA1365, LAP1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:18531, LRRC7 |
MIMi | 614453, gene |
neXtProti | NX_Q96NW7 |
VEuPathDBi | HostDB:ENSG00000033122.18 |
Subcellular locationi
Other locations
- Cytoplasm 1 Publication
- postsynaptic density By similarity
Cytoskeleton
- centrosome Source: HPA
Cytosol
- cytosol Source: HPA
Extracellular region or secreted
- extracellular region Source: Reactome
Nucleus
- nucleoplasm Source: HPA
Plasma Membrane
- basolateral plasma membrane Source: GO_Central
- plasma membrane Source: HPA
Other locations
- axon initial segment Source: GO_Central
- cell junction Source: GO_Central
- neuron projection Source: GO_Central
- postsynaptic density Source: GO_Central
- specific granule lumen Source: Reactome
- synapse Source: GO_Central
Keywords - Cellular componenti
Cell junction, Cytoplasm, SynapsePathology & Biotechi
Organism-specific databases
PharmGKBi | PA134879588 |
Miscellaneous databases
Pharosi | Q96NW7, Tbio |
Genetic variation databases
BioMutai | LRRC7 |
DMDMi | 50401129 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000188298 | 1 – 1537 | Leucine-rich repeat-containing protein 7Add BLAST | 1537 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 439 | PhosphoserineBy similarity | 1 | |
Modified residuei | 441 | PhosphoserineBy similarity | 1 | |
Modified residuei | 443 | PhosphoserineBy similarity | 1 | |
Modified residuei | 831 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 850 | PhosphoserineBy similarity | 1 | |
Modified residuei | 865 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 869 | PhosphoserineBy similarity | 1 | |
Modified residuei | 947 | PhosphoserineBy similarity | 1 | |
Modified residuei | 949 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1118 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1149 | Omega-N-methylarginineBy similarity | 1 | |
Modified residuei | 1233 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1335 | PhosphoserineBy similarity | 1 | |
Modified residuei | 1439 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Methylation, PhosphoproteinProteomic databases
EPDi | Q96NW7 |
jPOSTi | Q96NW7 |
MassIVEi | Q96NW7 |
MaxQBi | Q96NW7 |
PaxDbi | Q96NW7 |
PeptideAtlasi | Q96NW7 |
PRIDEi | Q96NW7 |
ProteomicsDBi | 77567 [Q96NW7-1] 77568 [Q96NW7-2] 77569 [Q96NW7-3] |
PTM databases
iPTMneti | Q96NW7 |
PhosphoSitePlusi | Q96NW7 |
SwissPalmi | Q96NW7 |
Expressioni
Tissue specificityi
Brain-specific. Isoform 3 is ubiquitously expressed.1 Publication
Gene expression databases
Bgeei | ENSG00000033122, Expressed in caudate nucleus and 138 other tissues |
Genevisiblei | Q96NW7, HS |
Organism-specific databases
HPAi | ENSG00000033122, Tissue enriched (brain) |
Interactioni
Subunit structurei
Binary interactionsi
Q96NW7
With | #Exp. | IntAct |
---|---|---|
Cnksr2 [Q9Z1T4] from Rattus norvegicus. | 2 | EBI-524275,EBI-8548356 |
Protein-protein interaction databases
BioGRIDi | 121610, 18 interactors |
CORUMi | Q96NW7 |
IntActi | Q96NW7, 9 interactors |
MINTi | Q96NW7 |
STRINGi | 9606.ENSP00000035383 |
Miscellaneous databases
RNActi | Q96NW7, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Repeati | 23 – 44 | LRR 1Add BLAST | 22 | |
Repeati | 47 – 68 | LRR 2Add BLAST | 22 | |
Repeati | 70 – 91 | LRR 3Add BLAST | 22 | |
Repeati | 93 – 114 | LRR 4Add BLAST | 22 | |
Repeati | 116 – 137 | LRR 5Add BLAST | 22 | |
Repeati | 139 – 161 | LRR 6Add BLAST | 23 | |
Repeati | 162 – 183 | LRR 7Add BLAST | 22 | |
Repeati | 185 – 206 | LRR 8Add BLAST | 22 | |
Repeati | 208 – 229 | LRR 9Add BLAST | 22 | |
Repeati | 231 – 253 | LRR 10Add BLAST | 23 | |
Repeati | 254 – 275 | LRR 11Add BLAST | 22 | |
Repeati | 277 – 298 | LRR 12Add BLAST | 22 | |
Repeati | 300 – 321 | LRR 13Add BLAST | 22 | |
Repeati | 323 – 344 | LRR 14Add BLAST | 22 | |
Repeati | 346 – 367 | LRR 15Add BLAST | 22 | |
Repeati | 369 – 391 | LRR 16Add BLAST | 23 | |
Repeati | 392 – 413 | LRR 17Add BLAST | 22 | |
Domaini | 1445 – 1535 | PDZPROSITE-ProRule annotationAdd BLAST | 91 |
Sequence similaritiesi
Belongs to the LAP (LRR and PDZ) protein family.Curated
Keywords - Domaini
Leucine-rich repeat, RepeatPhylogenomic databases
eggNOGi | KOG0619, Eukaryota |
InParanoidi | Q96NW7 |
OrthoDBi | 40683at2759 |
PhylomeDBi | Q96NW7 |
TreeFami | TF351429 |
Family and domain databases
Gene3Di | 2.30.42.10, 1 hit 3.80.10.10, 4 hits |
InterProi | View protein in InterPro IPR001611, Leu-rich_rpt IPR003591, Leu-rich_rpt_typical-subtyp IPR032675, LRR_dom_sf IPR001478, PDZ IPR036034, PDZ_sf |
Pfami | View protein in Pfam PF13855, LRR_8, 4 hits PF00595, PDZ, 1 hit |
SMARTi | View protein in SMART SM00369, LRR_TYP, 11 hits SM00228, PDZ, 1 hit |
SUPFAMi | SSF50156, SSF50156, 1 hit |
PROSITEi | View protein in PROSITE PS51450, LRR, 15 hits PS50106, PDZ, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A075B6E9 | A0A075B6E9_HUMAN | Leucine-rich repeat-containing prot... | LRRC7 | 1,495 | Annotation score: | ||
A0A494C1A4 | A0A494C1A4_HUMAN | Leucine-rich repeat-containing prot... | LRRC7 | 1,575 | Annotation score: | ||
F8WE45 | F8WE45_HUMAN | Leucine-rich repeat-containing prot... | LRRC7 | 821 | Annotation score: | ||
B1AKT2 | B1AKT2_HUMAN | Leucine-rich repeat-containing prot... | LRRC7 | 217 | Annotation score: | ||
K7ELH5 | K7ELH5_HUMAN | Leucine-rich repeat-containing prot... | LRRC7 | 61 | Annotation score: | ||
V9GYE1 | V9GYE1_HUMAN | Leucine-rich repeat-containing prot... | LRRC7 | 36 | Annotation score: | ||
V9GZ42 | V9GZ42_HUMAN | Leucine-rich repeat-containing prot... | LRRC7 | 25 | Annotation score: | ||
V9GY23 | V9GY23_HUMAN | Leucine-rich repeat-containing prot... | LRRC7 | 32 | Annotation score: |
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 373 | L → P (PubMed:17974005).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_035715 | 235 | L → M in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_049727 | 1054 | H → Y. Corresponds to variant dbSNP:rs12069888Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_010795 | 178 – 179 | KS → NI in isoform 3. 1 Publication | 2 | |
Alternative sequenceiVSP_010796 | 180 – 1537 | Missing in isoform 3. 1 PublicationAdd BLAST | 1358 | |
Alternative sequenceiVSP_010797 | 1286 – 1332 | Missing in isoform 2. 1 PublicationAdd BLAST | 47 |
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. |
RefSeqi | NP_065845.1, NM_020794.2 |
Genome annotation databases
UCSCi | uc001dep.4, human [Q96NW7-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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. |
RefSeqi | NP_065845.1, NM_020794.2 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 121610, 18 interactors |
CORUMi | Q96NW7 |
IntActi | Q96NW7, 9 interactors |
MINTi | Q96NW7 |
STRINGi | 9606.ENSP00000035383 |
PTM databases
iPTMneti | Q96NW7 |
PhosphoSitePlusi | Q96NW7 |
SwissPalmi | Q96NW7 |
Genetic variation databases
BioMutai | LRRC7 |
DMDMi | 50401129 |
Proteomic databases
EPDi | Q96NW7 |
jPOSTi | Q96NW7 |
MassIVEi | Q96NW7 |
MaxQBi | Q96NW7 |
PaxDbi | Q96NW7 |
PeptideAtlasi | Q96NW7 |
PRIDEi | Q96NW7 |
ProteomicsDBi | 77567 [Q96NW7-1] 77568 [Q96NW7-2] 77569 [Q96NW7-3] |
Genome annotation databases
UCSCi | uc001dep.4, human [Q96NW7-1] |
Organism-specific databases
GeneCardsi | LRRC7 |
HGNCi | HGNC:18531, LRRC7 |
HPAi | ENSG00000033122, Tissue enriched (brain) |
MIMi | 614453, gene |
neXtProti | NX_Q96NW7 |
PharmGKBi | PA134879588 |
VEuPathDBi | HostDB:ENSG00000033122.18 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0619, Eukaryota |
InParanoidi | Q96NW7 |
OrthoDBi | 40683at2759 |
PhylomeDBi | Q96NW7 |
TreeFami | TF351429 |
Enzyme and pathway databases
PathwayCommonsi | Q96NW7 |
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 |
SIGNORi | Q96NW7 |
Miscellaneous databases
BioGRID-ORCSi | 57554, 3 hits in 874 CRISPR screens |
ChiTaRSi | LRRC7, human |
GeneWikii | LRRC7 |
GenomeRNAii | 57554 |
Pharosi | Q96NW7, Tbio |
PROi | PR:Q96NW7 |
RNActi | Q96NW7, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000033122, Expressed in caudate nucleus and 138 other tissues |
Genevisiblei | Q96NW7, HS |
Family and domain databases
Gene3Di | 2.30.42.10, 1 hit 3.80.10.10, 4 hits |
InterProi | View protein in InterPro IPR001611, Leu-rich_rpt IPR003591, Leu-rich_rpt_typical-subtyp IPR032675, LRR_dom_sf IPR001478, PDZ IPR036034, PDZ_sf |
Pfami | View protein in Pfam PF13855, LRR_8, 4 hits PF00595, PDZ, 1 hit |
SMARTi | View protein in SMART SM00369, LRR_TYP, 11 hits SM00228, PDZ, 1 hit |
SUPFAMi | SSF50156, SSF50156, 1 hit |
PROSITEi | View protein in PROSITE PS51450, LRR, 15 hits PS50106, PDZ, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | LRRC7_HUMAN | |
Accessioni | Q96NW7Primary (citable) accession number: Q96NW7 Secondary accession number(s): Q5VXC2 Q9P2I2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 19, 2004 |
Last sequence update: | December 1, 2001 | |
Last modified: | February 10, 2021 | |
This is version 170 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants