Reviewed,
UniProtKB/Swiss-Prot Q96NW7 (LRRC7_HUMAN)
Last modified
February 9, 2010.
Version 73.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Leucine-rich repeat-containing protein 7 Alternative name(s): Protein LAP1 Densin-180 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1537 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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 | |
| Tissue specificity | |
| Sequence similarities | Belongs to the LAP (LRR and PDZ) protein family. Contains 18 LRR (leucine-rich) repeats. Contains 1 PDZ (DHR) domain. |
| Sequence caution | The sequence BAA92603.1 differs from that shown. Reason: Frameshift at position 665. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Leucine-rich repeat Repeat |
| PTM | Phosphoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Cellular component | cytoplasm Inferred from direct assay. Source: HPA focal adhesionInferred from direct assay. Source: HPA nucleolusInferred from direct assay. Source: HPA |
| Molecular function | protein binding Inferred from physical interaction. Source: IntAct |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| SSSCA1 | O60232 | 1 | EBI-524275,EBI-741415 | |
| TOR1A | O14656 | 1 | EBI-524275,EBI-524257 |
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1537 | 1537 | Leucine-rich repeat-containing protein 7 | PRO_0000188298 | |||||
Regions | |||||||||
| Repeat | 21 – 44 | 24 | LRR 1 | ||||||
| Repeat | 45 – 68 | 24 | LRR 2 | ||||||
| Repeat | 70 – 90 | 21 | LRR 3 | ||||||
| Repeat | 91 – 114 | 24 | LRR 4 | ||||||
| Repeat | 116 – 136 | 21 | LRR 5 | ||||||
| Repeat | 137 – 159 | 23 | LRR 6 | ||||||
| Repeat | 160 – 183 | 24 | LRR 7 | ||||||
| Repeat | 185 – 205 | 21 | LRR 8 | ||||||
| Repeat | 206 – 229 | 24 | LRR 9 | ||||||
| Repeat | 231 – 251 | 21 | LRR 10 | ||||||
| Repeat | 252 – 274 | 23 | LRR 11 | ||||||
| Repeat | 275 – 298 | 24 | LRR 12 | ||||||
| Repeat | 300 – 320 | 21 | LRR 13 | ||||||
| Repeat | 321 – 344 | 24 | LRR 14 | ||||||
| Repeat | 346 – 366 | 21 | LRR 15 | ||||||
| Repeat | 367 – 390 | 24 | LRR 16 | ||||||
| Repeat | 393 – 416 | 24 | LRR 17 | ||||||
| Repeat | 947 – 970 | 24 | LRR 18 | ||||||
| Domain | 1445 – 1535 | 91 | PDZ | ||||||
Amino acid modifications | |||||||||
| Modified residue | 90 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 850 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 865 | 1 | Phosphothreonine By similarity | ||||||
| Modified residue | 933 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 949 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 1439 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 178 – 179 | 2 | KS → NI in isoform 3. | VSP_010795 | |||||
| Alternative sequence | 180 – 1537 | 1358 | Missing in isoform 3. | VSP_010796 | |||||
| Alternative sequence | 1286 – 1332 | 47 | Missing in isoform 2. | VSP_010797 | |||||
| Natural variant | 235 | 1 | L → M in a breast cancer sample; somatic mutation. Ref.6 | VAR_035715 | |||||
| Natural variant | 1054 | 1 | H → Y: dbSNP rs12069888. | VAR_049727 | |||||
Experimental info | |||||||||
| Sequence conflict | 373 | 1 | L → P Ref.4 | ||||||
Sequences
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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. 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. 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 AL157948 Genomic DNA. Translation: CAH70974.1. AL158840 AL391728 Genomic DNA. Translation: CAH70975.1. Different initiation.AL391728 AL158840 Genomic DNA. Translation: CAH73691.1. AL391728 AL359412 Genomic DNA. Translation: CAH73692.1. Different initiation.AL359412 AL391728 Genomic DNA. Translation: CAH74018.1. AL359412 AL391728 Genomic DNA. Translation: CAH74019.1. Different initiation.AL157948 AL359412 Genomic DNA. Translation: CAI22425.1. AL157948 AL391728 Genomic DNA. Translation: CAI22426.1. Different initiation.AL117353 AL391728 Genomic DNA. Translation: CAI23423.1. Different initiation.CR749629 mRNA. Translation: CAH18423.1. AB037786 mRNA. Translation: BAA92603.1. Frameshift. |
| IPI | IPI00426267. IPI00426269. IPI00943337. |
| RefSeq | NP_065845.1. |
| UniGene | Hs.479658 |
3D structure databases | |
| SMR | Q96NW7. Positions 12-401, 1445-1536. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q96NW7. 2 interactions. |
| STRING | Q96NW7. |
PTM databases | |
| PhosphoSite | Q96NW7. |
Proteomic databases | |
| PRIDE | Q96NW7. |
Genome annotation databases | |
| Ensembl | ENST00000035383; ENSP00000035383; ENSG00000033122; Homo sapiens. [Genome view] |
| GeneID | 57554. |
| KEGG | hsa:57554. |
| UCSC | uc001deo.1. human. uc001dep.1. human. |
Organism-specific databases | |
| CTD | 57554. |
| GeneCards | GC01P069857. |
| H-InvDB | HIX0000691. |
| HGNC | HGNC:18531. LRRC7. |
| HPA | HPA002314. HPA005625. |
| PharmGKB | PA134879588. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q96NW7. |
| InParanoid | Q96NW7. |
| PhylomeDB | Q96NW7. |
Gene expression databases | |
| ArrayExpress | Q96NW7. |
| Bgee | Q96NW7. |
| CleanEx | HS_LRRC7. |
| Genevestigator | Q96NW7. |
Family and domain databases | |
| InterPro | IPR001611. Leu-rich_rpt. IPR001478. PDZ/DHR/GLGF. [Graphical view] |
| Pfam | PF00560. LRR_1. 2 hits. PF00595. PDZ. 1 hit. [Graphical view] |
| SMART | SM00228. PDZ. 1 hit. [Graphical view] |
| PROSITE | PS51450. LRR. 15 hits. PS50106. PDZ. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 64030. |
Entry information
| Entry name | LRRC7_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96NW7 Secondary accession number(s): Q5VXC2 Q9P2I2 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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. | ||||||||
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 |

Clusters with


