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Q96NW7 (LRRC7_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 91. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Leucine-rich repeat-containing protein 7
Alternative name(s):
Densin-180
Protein LAP1
Gene names
Name:LRRC7
Synonyms:KIAA1365, LAP1
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1537 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May be involved in the organization of synaptic cell-cell contacts. Ref.1

Subunit structure

Interacts with CAMKII, CNKSR2 and DLG4 By similarity. Interacts with CTNND2/Catenin delta-2. Forms a complex with N-cadherin through CTNND2. Ref.1

Subcellular location

Cytoplasm Ref.1.

Tissue specificity

Brain-specific. Isoform 3 is ubiquitously expressed. Ref.2

Sequence similarities

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

Contains 17 LRR (leucine-rich) repeats.

Contains 1 PDZ (DHR) domain.

Sequence caution

The sequence AAP06801.1 differs from that shown. Reason: Erroneous initiation.

The sequence BAA92603.1 differs from that shown. Reason: Frameshift at position 665.

The sequence CAH70975.1 differs from that shown. Reason: Erroneous initiation.

The sequence CAH73692.1 differs from that shown. Reason: Erroneous initiation.

The sequence CAH74019.1 differs from that shown. Reason: Erroneous initiation.

The sequence CAI22426.1 differs from that shown. Reason: Erroneous initiation.

The sequence CAI23423.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainLeucine-rich repeat
Repeat
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96NW7-1)

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.
Isoform 2 (identifier: Q96NW7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1286-1332: Missing.
Isoform 3 (identifier: Q96NW7-3)

Also known as: LRRC7;

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 15371537Leucine-rich repeat-containing protein 7
PRO_0000188298

Regions

Repeat23 – 4422LRR 1
Repeat47 – 6822LRR 2
Repeat70 – 9122LRR 3
Repeat93 – 11422LRR 4
Repeat116 – 13722LRR 5
Repeat139 – 16123LRR 6
Repeat162 – 18322LRR 7
Repeat185 – 20622LRR 8
Repeat208 – 22922LRR 9
Repeat231 – 25323LRR 10
Repeat254 – 27522LRR 11
Repeat277 – 29822LRR 12
Repeat300 – 32122LRR 13
Repeat323 – 34422LRR 14
Repeat346 – 36722LRR 15
Repeat369 – 39123LRR 16
Repeat392 – 41322LRR 17
Domain1445 – 153591PDZ

Amino acid modifications

Modified residue901Phosphoserine By similarity
Modified residue8501Phosphoserine By similarity
Modified residue8651Phosphothreonine By similarity
Modified residue9331Phosphoserine By similarity
Modified residue9491Phosphoserine By similarity
Modified residue14391Phosphoserine By similarity

Natural variations

Alternative sequence178 – 1792KS → NI in isoform 3.
VSP_010795
Alternative sequence180 – 15371358Missing in isoform 3.
VSP_010796
Alternative sequence1286 – 133247Missing in isoform 2.
VSP_010797
Natural variant2351L → M in a breast cancer sample; somatic mutation. Ref.6
VAR_035715
Natural variant10541H → Y.
Corresponds to variant rs12069888 [ dbSNP | Ensembl ].
VAR_049727

Experimental info

Sequence conflict3731L → P Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 1EB99AF133CD2925

FASTA1,537172,581
        10         20         30         40         50         60 
MTTKRKIIGR LVPCRCFRGE EEIISVLDYS HCSLQQVPKE VFNFERTLEE LYLDANQIEE 

        70         80         90        100        110        120 
LPKQLFNCQA LRKLSIPDND LSNLPTTIAS LVNLKELDIS KNGVQEFPEN IKCCKCLTII 

       130        140        150        160        170        180 
EASVNPISKL PDGFTQLLNL TQLYLNDAFL EFLPANFGRL VKLRILELRE NHLKTLPKSM 

       190        200        210        220        230        240 
HKLAQLERLD LGNNEFGELP EVLDQIQNLR ELWMDNNALQ VLPGSIGKLK MLVYLDMSKN 

       250        260        270        280        290        300 
RIETVDMDIS GCEALEDLLL SSNMLQQLPD SIGLLKKLTT LKVDDNQLTM LPNTIGNLSL 

       310        320        330        340        350        360 
LEEFDCSCNE LESLPSTIGY LHSLRTLAVD ENFLPELPRE IGSCKNVTVM SLRSNKLEFL 

       370        380        390        400        410        420 
PEEIGQMQKL RVLNLSDNRL KNLPFSFTKL KELAALWLSD NQSKALIPLQ TEAHPETKQR 

       430        440        450        460        470        480 
VLTNYMFPQQ PRGDEDFQSD SDSFNPTLWE EQRQQRMTVA FEFEDKKEDD ENAGKVKDLS 

       490        500        510        520        530        540 
CQAPWERGQR GITLQPARLS GDCCTPWARC DQQIQDMPVP QNDPQLAWGC ISGLQQERSM 

       550        560        570        580        590        600 
CTPLPVAAQS TTLPSLSGRQ VEINLKRYPT PYPEDLKNMV KSVQNLVGKP SHGVRVENSN 

       610        620        630        640        650        660 
PTANTEQTVK EKYEHKWPVA PKEITVEDSF VHPANEMRIG ELHPSLAETP LYPPKLVLLG 

       670        680        690        700        710        720 
KDKKESTDES EVDKTHCLNN SVSSGTYSDY SPSQASSGSS NTRVKVGSLQ TTAKDAVHNS 

       730        740        750        760        770        780 
LWGNRIAPSF PQPLDSKPLL SQREAVPPGN IPQRPDRLPM SDTFTDNWTD GSHYDNTGFV 

       790        800        810        820        830        840 
AEETTAENAN SNPLLSSKSR STSSHGRRPL IRQDRIVGVP LELEQSTHRH TPETEVPPSN 

       850        860        870        880        890        900 
PWQNWTRTPS PFEDRTAFPS KLETTPTTSP LPERKEHIKE STEIPSPFSP GVPWEYHDSN 

       910        920        930        940        950        960 
PNRSLSNVFS QIHCRPESSK GVISISKSTE RLSPLMKDIK SNKFKKSQSI DEIDIGTYKV 

       970        980        990       1000       1010       1020 
YNIPLENYAS GSDHLGSHER PDKMLGPEHG MSSMSRSQSV PMLDDEMLTY GSSKGPQQQK 

      1030       1040       1050       1060       1070       1080 
ASMTKKVYQF DQSFNPQGSV EVKAEKRIPP PFQHNPEYVQ QASKNIAKDL ISPRAYRGYP 

      1090       1100       1110       1120       1130       1140 
PMEQMFSFSQ PSVNEDAVVN AQFASQGARA GFLRRADSLV SATEMAMFRR VNEPHELPPT 

      1150       1160       1170       1180       1190       1200 
DRYGRPPYRG GLDRQSSVTV TESQFLKRNG RYEDEHPSYQ EVKAQAGSFP VKNLTQRRPL 

      1210       1220       1230       1240       1250       1260 
SARSYSTESY GASQTRPVSA RPTMAALLEK IPSDYNLGNY GDKPSDNSDL KTRPTPVKGE 

      1270       1280       1290       1300       1310       1320 
ESCGKMPADW RQQLLRHIEA RRLDRNAAYK HNTVNLGMLP YGGISAMHAG RSMTLNLQTK 

      1330       1340       1350       1360       1370       1380 
SKFDHQELPL QKTPSQQSNI LDNGQEDVSP SGQWNPYPLG RRDVPPDTIT KKAGSHIQTL 

      1390       1400       1410       1420       1430       1440 
MGSQSLQHRS REQQPYEGNI NKVTIQQFQS PLPIQIPSSQ ATRGPQPGRC LIQTKGQRSM 

      1450       1460       1470       1480       1490       1500 
DGYPEQFCVR IEKNPGLGFS ISGGISGQGN PFKPSDKGIF VTRVQPDGPA SNLLQPGDKI 

      1510       1520       1530 
LQANGHSFVH MEHEKAVLLL KSFQNTVDLV IQRELTV 

« Hide

Isoform 2 [UniParc].

Checksum: C9DFBE243559DD97
Show »

FASTA1,490167,386
Isoform 3 (LRRC7) [UniParc].

Checksum: 4DD81D9302A9CB0E
Show »

FASTA17920,546

References

« Hide 'large scale' references
[1]"Densin-180 interacts with delta-catenin/neural plakophilin-related armadillo repeat protein at synapses."
Izawa I., Nishizawa M., Ohtakara K., Inagaki M.
J. Biol. Chem. 277:5345-5350(2002) [PubMed: 11729199] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH CTNND2.
[2]"Cloning and characterization of a novel splice variant of the brain-specific protein densin-180."
Wang L., Xu J., Wu Q., Dai J., Ye X., Zeng L., Ji C., Gu S., Zhao R.C., Xie Y., Mao Y.
Int. J. Mol. Med. 11:257-260(2003) [PubMed: 12525888] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY.
Tissue: Brain.
[3]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed: 16710414] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 8-1537 (ISOFORM 1).
Tissue: Amygdala.
[5]"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:65-73(2000) [PubMed: 10718198] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 641-1537 (ISOFORM 2).
Tissue: Brain.
[6]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed: 16959974] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] MET-235.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF434715 mRNA. Translation: AAL28133.1.
AF498274 mRNA. Translation: AAP06801.1. Different initiation.
AL158840 expand/collapse EMBL AC list , AL391728, AL359412, AL157948 Genomic DNA. Translation: CAH70974.1.
AL158840 expand/collapse EMBL AC list , AL117353, AL157948, AL359412, AL391728 Genomic DNA. Translation: CAH70975.1. Different initiation.
AL391728 expand/collapse EMBL AC list , AL157948, AL359412, AL158840 Genomic DNA. Translation: CAH73691.1.
AL391728 expand/collapse EMBL AC list , AL117353, AL157948, AL158840, AL359412 Genomic DNA. Translation: CAH73692.1. Different initiation.
AL359412 expand/collapse EMBL AC list , AL158840, AL157948, AL391728 Genomic DNA. Translation: CAH74018.1.
AL359412 expand/collapse EMBL AC list , AL117353, AL157948, AL158840, AL391728 Genomic DNA. Translation: CAH74019.1. Different initiation.
AL157948 expand/collapse EMBL AC list , AL158840, AL391728, AL359412 Genomic DNA. Translation: CAI22425.1.
AL157948 expand/collapse EMBL AC list , AL117353, AL158840, AL359412, AL391728 Genomic DNA. Translation: CAI22426.1. Different initiation.
AL117353 expand/collapse EMBL AC list , AL157948, AL158840, AL359412, AL391728 Genomic DNA. Translation: CAI23423.1. Different initiation.
CR749629 mRNA. Translation: CAH18423.1.
AB037786 mRNA. Translation: BAA92603.1. Frameshift.
IPIIPI00384313.
IPI00426267.
IPI00426269.
RefSeqNP_065845.1. NM_020794.2.
UniGeneHs.479658.

3D structure databases

ProteinModelPortalQ96NW7.
SMRQ96NW7. Positions 14-410, 1368-1535.
ModBaseSearch...

Protein-protein interaction databases

IntActQ96NW7. 1 interaction.
MINTMINT-223197.
STRINGQ96NW7.

PTM databases

PhosphoSiteQ96NW7.

Polymorphism databases

DMDM50401129.

Proteomic databases

PRIDEQ96NW7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000035383; ENSP00000035383; ENSG00000033122.
GeneID57554.
KEGGhsa:57554.
UCSCuc001deo.1. human.
uc001dep.1. human.

Organism-specific databases

CTD57554.
GeneCardsGC01P069998.
H-InvDBHIX0000691.
HGNCHGNC:18531. LRRC7.
HPAHPA002314.
HPA005625.
neXtProtNX_Q96NW7.
PharmGKBPA134879588.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

GeneTreeENSGT00600000084222.
HOVERGENHBG052305.
InParanoidQ96NW7.
PhylomeDBQ96NW7.

Gene expression databases

ArrayExpressQ96NW7.
BgeeQ96NW7.
CleanExHS_LRRC7.
GenevestigatorQ96NW7.

Family and domain databases

InterProIPR001611. Leu-rich_rpt.
IPR001478. PDZ/DHR/GLGF.
[Graphical view]
PfamPF00560. LRR_1. 1 hit.
PF00595. PDZ. 1 hit.
[Graphical view]
SMARTSM00228. PDZ. 1 hit.
[Graphical view]
SUPFAMSSF50156. PDZ. 1 hit.
PROSITEPS51450. LRR. 15 hits.
PS50106. PDZ. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio64030.

Entry information

Entry nameLRRC7_HUMAN
AccessionPrimary (citable) accession number: Q96NW7
Secondary accession number(s): Q5VXC2 expand/collapse secondary AC list , Q5VXC3, Q68D07, Q86VE8, Q8WX20, Q9P2I2
Entry history
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: December 1, 2001
Last modified: January 25, 2012
This is version 91 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

SIMILARITY comments

Index of protein domains and families