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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-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

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

HGNCiHGNC:18531. LRRC7.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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 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.

Organism-specific databases

HPAiHPA002314.
HPA005625.

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 a different organism.

Protein-protein interaction databases

BioGridi121610. 9 interactors.
IntActiQ96NW7. 4 interactors.
MINTiMINT-223197.
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
Contains 17 LRR (leucine-rich) repeats.Curated
Contains 1 PDZ (DHR) domain.PROSITE-ProRule annotation

Keywords - Domaini

Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiENOG410KCZ0. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129686.
HOVERGENiHBG052305.
InParanoidiQ96NW7.
OrthoDBiEOG091G01EF.
PhylomeDBiQ96NW7.
TreeFamiTF351429.

Family and domain databases

Gene3Di2.30.42.10. 1 hit.
3.80.10.10. 3 hits.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR001478. PDZ.
[Graphical view]
PfamiPF13855. LRR_8. 4 hits.
PF00595. PDZ. 1 hit.
[Graphical view]
SMARTiSM00369. LRR_TYP. 11 hits.
SM00228. PDZ. 1 hit.
[Graphical view]
SUPFAMiSSF50156. SSF50156. 1 hit.
SSF52058. SSF52058. 1 hit.
PROSITEiPS51450. LRR. 15 hits.
PS50106. PDZ. 1 hit.
[Graphical view]

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 rs12069888dbSNPEnsembl.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

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.
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.

3D structure databases

ProteinModelPortaliQ96NW7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121610. 9 interactors.
IntActiQ96NW7. 4 interactors.
MINTiMINT-223197.
STRINGi9606.ENSP00000035383.

PTM databases

iPTMnetiQ96NW7.
PhosphoSitePlusiQ96NW7.

Polymorphism and mutation databases

BioMutaiLRRC7.
DMDMi50401129.

Proteomic databases

EPDiQ96NW7.
MaxQBiQ96NW7.
PaxDbiQ96NW7.
PeptideAtlasiQ96NW7.
PRIDEiQ96NW7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi57554.
DisGeNETi57554.
GeneCardsiLRRC7.
HGNCiHGNC:18531. LRRC7.
HPAiHPA002314.
HPA005625.
MIMi614453. gene.
neXtProtiNX_Q96NW7.
OpenTargetsiENSG00000033122.
PharmGKBiPA134879588.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410KCZ0. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00840000129686.
HOVERGENiHBG052305.
InParanoidiQ96NW7.
OrthoDBiEOG091G01EF.
PhylomeDBiQ96NW7.
TreeFamiTF351429.

Enzyme and pathway databases

ReactomeiR-HSA-6798695. Neutrophil degranulation.
SIGNORiQ96NW7.

Miscellaneous databases

ChiTaRSiLRRC7. human.
GeneWikiiLRRC7.
GenomeRNAii57554.
PROiQ96NW7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000033122.
CleanExiHS_LRRC7.
ExpressionAtlasiQ96NW7. baseline and differential.
GenevisibleiQ96NW7. HS.

Family and domain databases

Gene3Di2.30.42.10. 1 hit.
3.80.10.10. 3 hits.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR001478. PDZ.
[Graphical view]
PfamiPF13855. LRR_8. 4 hits.
PF00595. PDZ. 1 hit.
[Graphical view]
SMARTiSM00369. LRR_TYP. 11 hits.
SM00228. PDZ. 1 hit.
[Graphical view]
SUPFAMiSSF50156. SSF50156. 1 hit.
SSF52058. SSF52058. 1 hit.
PROSITEiPS51450. LRR. 15 hits.
PS50106. PDZ. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiLRRC7_HUMAN
AccessioniPrimary (citable) accession number: Q96NW7
Secondary accession number(s): Q5VXC2
, Q5VXC3, Q68D07, Q86VE8, Q8WX20, Q9P2I2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: December 1, 2001
Last modified: November 30, 2016
This is version 138 of the entry and version 1 of the sequence. [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

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.