Q9Y561 · LRP12_HUMAN
- ProteinLow-density lipoprotein receptor-related protein 12
- GeneLRP12
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids859 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | clathrin-coated pit | |
Cellular Component | membrane | |
Cellular Component | plasma membrane | |
Molecular Function | low-density lipoprotein particle receptor activity | |
Biological Process | endocytosis | |
Biological Process | neuron migration | |
Biological Process | neuron projection development | |
Biological Process | regulation of growth | |
Biological Process | signal transduction |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameLow-density lipoprotein receptor-related protein 12
- Short namesLDLR-related protein 12; LRP-12
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9Y561
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Features
Showing features for topological domain, transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Topological domain | 33-492 | Extracellular | ||||
Sequence: EHSENVHISGVSTACGETPEQIRAPSGIITSPGWPSEYPAKINCSWFIRANPGEIITISFQDFDIQGSRRCNLDWLTIETYKNIESYRACGSTIPPPYISSQDHIWIRFHSDDNISRKGFRLAYFSGKSEEPNCACDQFRCGNGKCIPEAWKCNNMDECGDSSDEEICAKEANPPTAAAFQPCAYNQFQCLSRFTKVYTCLPESLKCDGNIDCLDLGDEIDCDVPTCGQWLKYFYGTFNSPNYPDFYPPGSNCTWLIDTGDHRKVILRFTDFKLDGTGYGDYVKIYDGLEENPHKLLRVLTAFDSHAPLTVVSSSGQIRVHFCADKVNAARGFNATYQVDGFCLPWEIPCGGNWGCYTEQQRCDGYWHCPNGRDETNCTMCQKEEFPCSRNGVCYPRSDRCNYQNHCPNGSDEKNCFFCQPGNFHCKNNRCVFESWVCDSQDDCGDGSDEENCPVIVPTR | ||||||
Transmembrane | 493-513 | Helical | ||||
Sequence: VITAAVIGSLICGLLLVIALG | ||||||
Topological domain | 514-859 | Cytoplasmic | ||||
Sequence: CTCKLYSLRMFERRSFETQLSRVEAELLRREAPPSYGQLIAQGLIPPVEDFPVCSPNQASVLENLRLAVRSQLGFTSVRLPMAGRSSNIWNRIFNFARSRHSGSLALVSADGDEVVPSQSTSREPERNHTHRSLFSVESDDTDTENERRDMAGASGGVAAPLPQKVPPTTAVEATVGACASSSTQSTRGGHADNGRDVTSVEPPSVSPARHQLTSALSRMTQGLRWVRFTLGRSSSLSQNQSPLRQLDNGVSGREDDDDVEMLIPISDGSSDFDVNDCSRPLLDLASDQGQGLRQPYNATNPGVRPSNRDGPCERCGIVHTAQIPDTCLEVTLKNETSDDEALLLC |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Oculopharyngodistal myopathy 1 (OPDM1)
- Note
- DescriptionA form of oculopharyngodistal myopathy, a muscle disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. The myopathological features are presence of rimmed vacuoles in the muscle fibers and myopathic changes of differing severity. OPDM1 inheritance pattern is autosomal dominant.
- See alsoMIM:164310
Amyotrophic lateral sclerosis 28 (ALS28)
- Note
- DescriptionA form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS28 is an autosomal dominant form characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness. Facial involvement is rare, but some patients may have respiratory insufficiency.
- See alsoMIM:620452
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_049766 | 694 | in dbSNP:rs16871494 | |||
Sequence: S → G |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 943 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for signal, chain, disulfide bond, glycosylation, modified residue (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Signal | 1-32 | UniProt | |||||
Sequence: MACRWSTKESPRWRSALLLLFLAGVYGNGALA | |||||||
Chain | PRO_0000017339 | 33-859 | UniProt | Low-density lipoprotein receptor-related protein 12 | |||
Sequence: EHSENVHISGVSTACGETPEQIRAPSGIITSPGWPSEYPAKINCSWFIRANPGEIITISFQDFDIQGSRRCNLDWLTIETYKNIESYRACGSTIPPPYISSQDHIWIRFHSDDNISRKGFRLAYFSGKSEEPNCACDQFRCGNGKCIPEAWKCNNMDECGDSSDEEICAKEANPPTAAAFQPCAYNQFQCLSRFTKVYTCLPESLKCDGNIDCLDLGDEIDCDVPTCGQWLKYFYGTFNSPNYPDFYPPGSNCTWLIDTGDHRKVILRFTDFKLDGTGYGDYVKIYDGLEENPHKLLRVLTAFDSHAPLTVVSSSGQIRVHFCADKVNAARGFNATYQVDGFCLPWEIPCGGNWGCYTEQQRCDGYWHCPNGRDETNCTMCQKEEFPCSRNGVCYPRSDRCNYQNHCPNGSDEKNCFFCQPGNFHCKNNRCVFESWVCDSQDDCGDGSDEENCPVIVPTRVITAAVIGSLICGLLLVIALGCTCKLYSLRMFERRSFETQLSRVEAELLRREAPPSYGQLIAQGLIPPVEDFPVCSPNQASVLENLRLAVRSQLGFTSVRLPMAGRSSNIWNRIFNFARSRHSGSLALVSADGDEVVPSQSTSREPERNHTHRSLFSVESDDTDTENERRDMAGASGGVAAPLPQKVPPTTAVEATVGACASSSTQSTRGGHADNGRDVTSVEPPSVSPARHQLTSALSRMTQGLRWVRFTLGRSSSLSQNQSPLRQLDNGVSGREDDDDVEMLIPISDGSSDFDVNDCSRPLLDLASDQGQGLRQPYNATNPGVRPSNRDGPCERCGIVHTAQIPDTCLEVTLKNETSDDEALLLC | |||||||
Disulfide bond | 47↔76 | UniProt | |||||
Sequence: CGETPEQIRAPSGIITSPGWPSEYPAKINC | |||||||
Glycosylation | 75 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Disulfide bond | 103↔122 | UniProt | |||||
Sequence: CNLDWLTIETYKNIESYRAC | |||||||
Glycosylation | 146 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Disulfide bond | 166↔178 | UniProt | |||||
Sequence: CACDQFRCGNGKC | |||||||
Disulfide bond | 173↔191 | UniProt | |||||
Sequence: CGNGKCIPEAWKCNNMDEC | |||||||
Disulfide bond | 185↔200 | UniProt | |||||
Sequence: CNNMDECGDSSDEEIC | |||||||
Disulfide bond | 215↔232 | UniProt | |||||
Sequence: CAYNQFQCLSRFTKVYTC | |||||||
Disulfide bond | 222↔245 | UniProt | |||||
Sequence: CLSRFTKVYTCLPESLKCDGNIDC | |||||||
Disulfide bond | 239↔254 | UniProt | |||||
Sequence: CDGNIDCLDLGDEIDC | |||||||
Disulfide bond | 259↔285 | UniProt | |||||
Sequence: CGQWLKYFYGTFNSPNYPDFYPPGSNC | |||||||
Glycosylation | 284 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Glycosylation | 366 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Disulfide bond | 375↔388 | UniProt | |||||
Sequence: CLPWEIPCGGNWGC | |||||||
Disulfide bond | 382↔401 | UniProt | |||||
Sequence: CGGNWGCYTEQQRCDGYWHC | |||||||
Disulfide bond | 395↔410 | UniProt | |||||
Sequence: CDGYWHCPNGRDETNC | |||||||
Glycosylation | 409 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Disulfide bond | 413↔426 | UniProt | |||||
Sequence: CQKEEFPCSRNGVC | |||||||
Disulfide bond | 420↔439 | UniProt | |||||
Sequence: CSRNGVCYPRSDRCNYQNHC | |||||||
Disulfide bond | 433↔448 | UniProt | |||||
Sequence: CNYQNHCPNGSDEKNC | |||||||
Glycosylation | 441 | UniProt | N-linked (GlcNAc...) asparagine | ||||
Sequence: N | |||||||
Disulfide bond | 451↔463 | UniProt | |||||
Sequence: CQPGNFHCKNNRC | |||||||
Disulfide bond | 458↔476 | UniProt | |||||
Sequence: CKNNRCVFESWVCDSQDDC | |||||||
Disulfide bond | 470↔485 | UniProt | |||||
Sequence: CDSQDDCGDGSDEENC | |||||||
Modified residue (large scale data) | 652 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 655 | PRIDE | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 720 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 749 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 850 | PRIDE | Phosphothreonine | ||||
Sequence: T | |||||||
Modified residue (large scale data) | 851 | PRIDE | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Gene expression databases
Organism-specific databases
Interaction
Subunit
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9Y561 | NMRK2 Q9NPI5 | 2 | EBI-296693, EBI-514059 | |
BINARY | Q9Y561 | RACK1 P63244 | 2 | EBI-296693, EBI-296739 | |
BINARY | Q9Y561 | ZFYVE9 O95405 | 2 | EBI-296693, EBI-296817 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for domain, region, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Domain | 47-159 | CUB 1 | ||||
Sequence: CGETPEQIRAPSGIITSPGWPSEYPAKINCSWFIRANPGEIITISFQDFDIQGSRRCNLDWLTIETYKNIESYRACGSTIPPPYISSQDHIWIRFHSDDNISRKGFRLAYFSG | ||||||
Domain | 165-201 | LDL-receptor class A 1 | ||||
Sequence: NCACDQFRCGNGKCIPEAWKCNNMDECGDSSDEEICA | ||||||
Domain | 214-255 | LDL-receptor class A 2 | ||||
Sequence: PCAYNQFQCLSRFTKVYTCLPESLKCDGNIDCLDLGDEIDCD | ||||||
Domain | 259-372 | CUB 2 | ||||
Sequence: CGQWLKYFYGTFNSPNYPDFYPPGSNCTWLIDTGDHRKVILRFTDFKLDGTGYGDYVKIYDGLEENPHKLLRVLTAFDSHAPLTVVSSSGQIRVHFCADKVNAARGFNATYQVD | ||||||
Domain | 374-411 | LDL-receptor class A 3 | ||||
Sequence: FCLPWEIPCGGNWGCYTEQQRCDGYWHCPNGRDETNCT | ||||||
Domain | 412-449 | LDL-receptor class A 4 | ||||
Sequence: MCQKEEFPCSRNGVCYPRSDRCNYQNHCPNGSDEKNCF | ||||||
Domain | 450-486 | LDL-receptor class A 5 | ||||
Sequence: FCQPGNFHCKNNRCVFESWVCDSQDDCGDGSDEENCP | ||||||
Region | 623-678 | Disordered | ||||
Sequence: ADGDEVVPSQSTSREPERNHTHRSLFSVESDDTDTENERRDMAGASGGVAAPLPQK | ||||||
Compositional bias | 637-663 | Basic and acidic residues | ||||
Sequence: EPERNHTHRSLFSVESDDTDTENERRD | ||||||
Region | 693-723 | Disordered | ||||
Sequence: ASSSTQSTRGGHADNGRDVTSVEPPSVSPAR | ||||||
Region | 748-770 | Disordered | ||||
Sequence: SSLSQNQSPLRQLDNGVSGREDD | ||||||
Region | 801-823 | Disordered | ||||
Sequence: DQGQGLRQPYNATNPGVRPSNRD | ||||||
Compositional bias | 804-818 | Polar residues | ||||
Sequence: QGLRQPYNATNPGVR |
Sequence similarities
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
This entry describes 2 isoforms produced by Alternative splicing.
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.
- Name1
- Length859
- Mass (Da)94,984
- Last updated1999-11-01 v1
- Checksum41A8FD8121E32A92
Q9Y561-2
- Name2
- Differences from canonical
- 27-45: Missing
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
E5RIW8 | E5RIW8_HUMAN | LRP12 | 200 |
Features
Showing features for alternative sequence, compositional bias.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_040992 | 27-45 | in isoform 2 | |||
Sequence: Missing | ||||||
Compositional bias | 637-663 | Basic and acidic residues | ||||
Sequence: EPERNHTHRSLFSVESDDTDTENERRD | ||||||
Compositional bias | 804-818 | Polar residues | ||||
Sequence: QGLRQPYNATNPGVR |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF166350 EMBL· GenBank· DDBJ | AAD44360.1 EMBL· GenBank· DDBJ | mRNA | ||
AK289752 EMBL· GenBank· DDBJ | BAF82441.1 EMBL· GenBank· DDBJ | mRNA | ||
AK299374 EMBL· GenBank· DDBJ | BAG61364.1 EMBL· GenBank· DDBJ | mRNA | ||
AC087370 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC090827 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AP002847 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471060 EMBL· GenBank· DDBJ | EAW91897.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC032109 EMBL· GenBank· DDBJ | AAH32109.1 EMBL· GenBank· DDBJ | mRNA |