Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Leucine-rich repeat-containing protein 7

Gene

LRRC7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

Enzyme and pathway databases

ReactomeiR-HSA-6798695 Neutrophil degranulation
SIGNORiQ96NW7

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine-rich repeat-containing protein 7
Alternative name(s):
Densin-180
Short name:
Densin
Protein LAP1
Gene namesi
Name:LRRC7
Synonyms:KIAA1365, LAP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000033122.18
HGNCiHGNC:18531 LRRC7
MIMi614453 gene
neXtProtiNX_Q96NW7

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Membrane, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Organism-specific databases

DisGeNETi57554
OpenTargetsiENSG00000033122
PharmGKBiPA134879588

Polymorphism and mutation databases

BioMutaiLRRC7
DMDMi50401129

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001882981 – 1537Leucine-rich repeat-containing protein 7Add BLAST1537

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

EPDiQ96NW7
MaxQBiQ96NW7
PaxDbiQ96NW7
PeptideAtlasiQ96NW7
PRIDEiQ96NW7

PTM databases

iPTMnetiQ96NW7
PhosphoSitePlusiQ96NW7

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000033122
CleanExiHS_LRRC7
ExpressionAtlasiQ96NW7 baseline and differential
GenevisibleiQ96NW7 HS

Interactioni

Subunit structurei

Interacts with CAMKII, CNKSR2 and DLG4 (By similarity). Interacts with CTNND2/Catenin delta-2. Forms a complex with N-cadherin through CTNND2.By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
Cnksr2Q9Z1T42EBI-524275,EBI-8548356From Rattus norvegicus.

Protein-protein interaction databases

BioGridi121610, 10 interactors
CORUMiQ96NW7
IntActiQ96NW7, 7 interactors
MINTiQ96NW7
STRINGi9606.ENSP00000035383

Structurei

3D structure databases

ProteinModelPortaliQ96NW7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
Domaini1445 – 1535PDZPROSITE-ProRule annotationAdd BLAST91

Sequence similaritiesi

Belongs to the LAP (LRR and PDZ) protein family.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiENOG410KCZ0 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00840000129686
HOVERGENiHBG052305
InParanoidiQ96NW7
OrthoDBiEOG091G01EF
PhylomeDBiQ96NW7
TreeFamiTF351429

Family and domain databases

Gene3Di3.80.10.10, 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

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96NW7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
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

Sequence cautioni

The sequence AAP06801 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA92603 differs from that shown. Reason: Frameshift at position 665.Curated
The sequence CAH70975 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAH73692 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAH74019 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAI22426 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAI23423 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti373L → P (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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:
EMBLi
GenBanki
DDBJi
Links Updated
AF434715 mRNA Translation: AAL28133.1
AF498274 mRNA Translation: AAP06801.1 Different initiation.
AL158840
, AL391728, AL359412, AL157948 Genomic DNA Translation: CAH70974.1
AL158840
, AL117353, AL157948, AL359412, AL391728 Genomic DNA Translation: CAH70975.1 Different initiation.
AL391728
, AL157948, AL359412, AL158840 Genomic DNA Translation: CAH73691.1
AL391728
, AL117353, AL157948, AL158840, AL359412 Genomic DNA Translation: CAH73692.1 Different initiation.
AL359412
, AL158840, AL157948, AL391728 Genomic DNA Translation: CAH74018.1
AL359412
, AL117353, AL157948, AL158840, AL391728 Genomic DNA Translation: CAH74019.1 Different initiation.
AL157948
, AL158840, AL391728, AL359412 Genomic DNA Translation: CAI22425.1
AL157948
, AL117353, AL158840, AL359412, AL391728 Genomic DNA Translation: CAI22426.1 Different initiation.
AL117353
, AL157948, AL158840, AL359412, AL391728 Genomic DNA Translation: CAI23423.1 Different initiation.
CR749629 mRNA Translation: CAH18423.1
AB037786 mRNA Translation: BAA92603.1 Frameshift.
CCDSiCCDS645.1 [Q96NW7-1]
RefSeqiNP_065845.1, NM_020794.2 [Q96NW7-1]
UniGeneiHs.479658
Hs.736929

Genome annotation databases

EnsembliENST00000035383; ENSP00000035383; ENSG00000033122 [Q96NW7-1]
GeneIDi57554
KEGGihsa:57554
UCSCiuc001dep.4 human [Q96NW7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiLRRC7_HUMAN
AccessioniPrimary (citable) accession number: Q96NW7
Secondary accession number(s): Q5VXC2
, Q5VXC3, Q68D07, Q86VE8, Q8WX20, Q9P2I2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: December 1, 2001
Last modified: March 28, 2018
This is version 148 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health