Q9Y561 (LRP12_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 117.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Low-density lipoprotein receptor-related protein 12 Short name=LRP-12 Alternative name(s): Suppressor of tumorigenicity 7 protein | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference 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 | 859 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. May act as a tumor suppressor. Ref.6 |
| Subunit structure | May interact with GNB2L1, ZFYVE9 and NMRK2. |
| Subcellular location | Membrane; Single-pass type I membrane protein. Membrane › coated pit Ref.6. |
| Tissue specificity | Widely expressed in heart, skeletal muscle, brain, lung, placenta and pancreas, but not in tissues consisting of a large number of epithelial cells, such as liver and kidney. Expressed at very low levels in a number of tumor-derived cell lines. Ref.1 |
| Sequence similarities | Belongs to the LDLR family. Contains 2 CUB domains. Contains 5 LDL-receptor class A domains. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Endocytosis |
| Cellular component | Coated pit Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat Signal Transmembrane Transmembrane helix |
| Molecular function | Receptor |
| PTM | Disulfide bond Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | regulation of growth Non-traceable author statement Ref.1. Source: UniProtKB signal transductionNon-traceable author statement Ref.6. Source: UniProtKB |
| Cellular_component | coated pit Inferred from electronic annotation. Source: UniProtKB-SubCell integral to plasma membraneInferred from direct assay Ref.6. Source: UniProtKB |
| Molecular_function | low-density lipoprotein receptor activity Non-traceable author statement Ref.6. Source: UniProtKB |
| Complete GO annotation... | |
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| GNB2L1 | P63244 | 2 | EBI-296693,EBI-296739 | |
| NMRK2 | Q9NPI5 | 2 | EBI-296693,EBI-514059 | |
| ZFYVE9 | O95405 | 2 | EBI-296693,EBI-296817 |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9Y561-1) 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: Q9Y561-2) The sequence of this isoform differs from the canonical sequence as follows: 27-45: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 32 | 32 | Potential | ||||||||
| Chain | 33 – 859 | 827 | Low-density lipoprotein receptor-related protein 12 | PRO_0000017339 | |||||||
Regions | |||||||||||
| Topological domain | 33 – 492 | 460 | Extracellular Potential | ||||||||
| Transmembrane | 493 – 513 | 21 | Helical; Potential | ||||||||
| Topological domain | 514 – 859 | 346 | Cytoplasmic Potential | ||||||||
| Domain | 47 – 159 | 113 | CUB 1 | ||||||||
| Domain | 165 – 201 | 37 | LDL-receptor class A 1 | ||||||||
| Domain | 214 – 255 | 42 | LDL-receptor class A 2 | ||||||||
| Domain | 259 – 372 | 114 | CUB 2 | ||||||||
| Domain | 374 – 411 | 38 | LDL-receptor class A 3 | ||||||||
| Domain | 412 – 449 | 38 | LDL-receptor class A 4 | ||||||||
| Domain | 450 – 486 | 37 | LDL-receptor class A 5 | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 75 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 146 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 284 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 366 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 409 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 441 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 47 ↔ 76 | By similarity | |||||||||
| Disulfide bond | 103 ↔ 122 | By similarity | |||||||||
| Disulfide bond | 166 ↔ 178 | By similarity | |||||||||
| Disulfide bond | 173 ↔ 191 | By similarity | |||||||||
| Disulfide bond | 185 ↔ 200 | By similarity | |||||||||
| Disulfide bond | 215 ↔ 232 | By similarity | |||||||||
| Disulfide bond | 222 ↔ 245 | By similarity | |||||||||
| Disulfide bond | 239 ↔ 254 | By similarity | |||||||||
| Disulfide bond | 259 ↔ 285 | By similarity | |||||||||
| Disulfide bond | 375 ↔ 388 | By similarity | |||||||||
| Disulfide bond | 382 ↔ 401 | By similarity | |||||||||
| Disulfide bond | 395 ↔ 410 | By similarity | |||||||||
| Disulfide bond | 413 ↔ 426 | By similarity | |||||||||
| Disulfide bond | 420 ↔ 439 | By similarity | |||||||||
| Disulfide bond | 433 ↔ 448 | By similarity | |||||||||
| Disulfide bond | 451 ↔ 463 | By similarity | |||||||||
| Disulfide bond | 458 ↔ 476 | By similarity | |||||||||
| Disulfide bond | 470 ↔ 485 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 27 – 45 | 19 | Missing in isoform 2. | VSP_040992 | |||||||
| Natural variant | 694 | 1 | S → G. Corresponds to variant rs16871494 [ dbSNP | Ensembl ]. | VAR_049766 | |||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning and characterization of a novel gene encoding a putative transmembrane protein with altered expression in some human transformed and tumor-derived cell lines." Qing J., Wei D., Maher V.M., McCormick J.J. Oncogene 18:335-342(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Brain. |
| [3] | "DNA sequence and analysis of human chromosome 8." Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. Lander E.S.Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Retinal pigment epithelium. |
| [6] | "ST7 is a novel low-density lipoprotein receptor-related protein (LRP) with a cytoplasmic tail that interacts with proteins related to signal transduction pathways." Battle M.A., Maher V.M., McCormick J.J. Biochemistry 42:7270-7282(2003) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, POSSIBLE INTERACTION WITH GNB2L1; ZFYVE9 AND NMRK2. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF166350 mRNA. Translation: AAD44360.1. AK289752 mRNA. Translation: BAF82441.1. AK299374 mRNA. Translation: BAG61364.1. AC087370 Genomic DNA. No translation available. AC090827 Genomic DNA. No translation available. AP002847 Genomic DNA. No translation available. CH471060 Genomic DNA. Translation: EAW91897.1. BC032109 mRNA. Translation: AAH32109.1. |
| IPI | IPI00021027. IPI00914038. |
| RefSeq | NP_001129175.1. NM_001135703.2. NP_038465.1. NM_013437.4. |
| UniGene | Hs.600630. Hs.715867. |
3D structure databases | |
| ProteinModelPortal | Q9Y561. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9Y561. 6 interactions. |
| STRING | 9606.ENSP00000276654. |
PTM databases | |
| PhosphoSite | Q9Y561. |
Polymorphism databases | |
| DMDM | 25091287. |
Proteomic databases | |
| PaxDb | Q9Y561. |
| PRIDE | Q9Y561. |
Protocols and materials databases | |
| DNASU | 29967. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000276654; ENSP00000276654; ENSG00000147650. ENST00000424843; ENSP00000399148; ENSG00000147650. |
| GeneID | 29967. |
| KEGG | hsa:29967. |
| UCSC | uc003yma.3. human. uc003ymb.3. human. |
Organism-specific databases | |
| CTD | 29967. |
| GeneCards | GC08M105501. |
| HGNC | HGNC:31708. LRP12. |
| HPA | HPA017245. |
| neXtProt | NX_Q9Y561. |
| PharmGKB | PA134921850. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG242928. |
| HOGENOM | HOG000013017. |
| HOVERGEN | HBG103190. |
| InParanoid | Q9Y561. |
| OMA | PTCGQWL. |
| PhylomeDB | Q9Y561. |
Gene expression databases | |
| ArrayExpress | Q9Y561. |
| Bgee | Q9Y561. |
| CleanEx | HS_LRP12. HS_ST7. |
| Genevestigator | Q9Y561. |
| GermOnline | ENSG00000147650. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.60.120.290. 2 hits. 4.10.400.10. 5 hits. |
| InterPro | IPR000859. CUB_dom. IPR023415. LDLR_class-A_CS. IPR002172. LDrepeatLR_classA_rpt. [Graphical view] |
| Pfam | PF00431. CUB. 2 hits. PF00057. Ldl_recept_a. 3 hits. [Graphical view] |
| SMART | SM00042. CUB. 2 hits. SM00192. LDLa. 5 hits. [Graphical view] |
| SUPFAM | SSF49854. CUB. 2 hits. SSF57424. LDL_rcpt_classA_cys-rich. 5 hits. |
| PROSITE | PS01180. CUB. 2 hits. PS01209. LDLRA_1. 2 hits. PS50068. LDLRA_2. 5 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 29967. |
| NextBio | 52701. |
Entry information
| Entry name | LRP12_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9Y561 Secondary accession number(s): A8K137, B4DRQ2 | ||||||||
| Entry history |
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| Entry status | 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. | ||||||||
Relevant documents
| Human chromosome 8 Human chromosome 8: 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
